Long-term sequelae of normocephalic pansynostosis: a rare but insidious entity.

OBJECTIVE: Patients with normocephalic pansynostosis, who have a grossly normal head shape, are often overlooked early in life and present late with elevated intracranial pressure (ICP) requiring timely cranial vault expansion. This study evaluates the long-term clinical outcomes of patients with normocephalic pansynostosis. METHODS: We retrospectively reviewed patients with a clinical and radiographic diagnosis of primary pansynostosis who underwent vault reconstruction between 2000 and 2023. Clinical and treatment course after craniofacial interventions was followed in patients with normocephaly to assess outcomes. RESULTS: Thirty-five patients with primary pansynostosis were identified, of which eight (23.5%) had normocephaly and underwent initial vault expansion at a mean age of 5.0 ± 2.4 years. All eight patients (50.0% male) presented with symptoms of elevated ICP including headaches (50.0%), nausea and vomiting (50.0%), and developmental delay (62.5%) and/or signs of elevated ICP including papilledema (75.0%) and radiologic thumbprinting on head computed tomography scan (87.5%). Three of the four normocephalic patients who had over 7 years of postoperative follow-up developed subjective headaches, vision changes, or learning and behavioral issues in the long-term despite successful vault reconstruction. CONCLUSIONS: Our longitudinal experience with this rare but insidious entity demonstrates the importance of timely intervention and frequent postoperative monitoring, which are critical to limiting long-term neurological sequelae. Multidisciplinary care by craniofacial surgery, neurosurgery, ophthalmology, and neuropsychology with follow-up into adolescence are recommended to assess for possible recurrence of elevated ICP secondary to cranio-cerebral disproportion.

A National 20-year Analysis of Weight Lifting-related Injuries and Fractures Among Adolescents.

BACKGROUND: Increasing strength through weightlifting has become a core component of competitive sports training, recreational exercise programs, and school physical education classes. Although many health benefits exist, there is concern for injury, especially with improper supervision and accelerated progression of training loads. Though organizations have advocated safe training practices, trends in the national health burden of injuries, specifically fractures, associated with weightlifting in the adolescent population have not been investigated. METHODS: The National Electronic Injury Surveillance System database was queried between 2002 and 2021 for patients aged 11 to 21 years presenting to US Emergency Departments with weight lifting-related injuries. The narrative component of each case identified was analyzed to include only patients noted to be using weightlifting equipment or free weights at the time of injury. Estimates and analyses were performed with 95% CIs. RESULTS: Although there has been some variability in weight lifting-related injuries, the incidence remained roughly constant over the 20 years (R2=0.0364). 14,497 cases were identified, reflecting a national estimate of 540,986 total injuries and an annual estimate of 27,049 injuries. Most injuries occurred among 15-to-18-year olds (44.1%±1.6%) and 19-to-21-year olds (38.3%±2.0%). The most common injuries were sprain/strain (36.7%±1.3%), contusion/abrasion (15.7%±0.7%), and fracture (9.9%±0.3%). There were 53,813 estimated fractures, giving an annual incidence of 2,691 fractures. As a portion of all injuries, the number of fractures decreased significantly as patients got older, accounting for 26.8%±3.3% at age 11 and only 8.3%±0.9% at age 21 (R2=0.6626). Fingers (37.1%±1.8%) and toes (27.9%±1.4%) were the most fractured body parts. Overall, fractures mainly occurred either at school (25.3%±2.0%) or places of recreation (24.7%±2.2%). CONCLUSIONS: Despite the guidelines to improve safety, the national health burden of weight lifting-related injuries among adolescents has remained constant over the past 20 years. Given that most of the fractures occur in the distal extremities, such as toes and fingers, at school and places of recreation, there may be an opportunity to promote safer weightlifting practices and the development of weightlifting equipment with in-built safety mechanisms, especially at gyms and schools. LEVEL OF EVIDENCE: Level III-prognostic.

Trends in Blood Mosaicism and Clinical Phenotype Score in Patients with Beckwith-Wiedemann Syndrome Evaluated for Tongue Reduction Surgery.

INTRODUCTION: Most patients with Beckwith-Wiedemann syndrome (BWS) have macroglossia with some requiring tongue reduction surgery (TRS). This study reports correlations between levels of affected cells (mosaicism) and BWS clinical score in patients evaluated for TRS. We also show correlations of clinical score and mosaicism with obstructive sleep apnea (OSA) severity. METHODS: Blood mosaicism levels and BWS clinical score were recorded in patients with macroglossia referred to plastic surgery for evaluation. Associations among blood mosaicism, BWS clinical score, TRS, and OSA were assessed with appropriate statistics. RESULTS: Of the 225 patients included, BWS blood testing was available in 128 (56.9%). Mosaicism levels were higher in those who underwent TRS compared to those who did not (85.9 85.9 (56.5-95.9)% vs. 29.7 (2.8-73.1)%, p<0.001). BWS clinical score was also higher in those requiring TRS (9.0 (8.0-11.0) versus 7.0 (6.0-9.0), p<0.001). There was a positive correlation between clinical score and obstructive apnea-hypopnea index (r=0.320, p=0.011). Receiver operating characteristic curve analysis showed a clinical score ≥11 had 100% specificity and 36.4% sensitivity for detecting patients requiring TRS. Blood mosaicism ≥80% had 63.6% sensitivity and 83.6% specificity for predicting surgery. A combined criteria of BWS clinical score ≥11 or mosaicism ≥80% had 72.7% sensitivity and 83.6% specificity for predicting TRS. CONCLUSION: Blood mosaicism levels and higher BWS clinical scores appear associated with a greater frequency of having surgery in patients with macroglossia referred for surgical evaluation. Elevations in BWS clinical scoring are associated with increased OSA severity while increased blood mosaicism is not.

Long-Term Orbito-ocular Outcomes Following LeFort III and Monobloc Distraction Osteogenesis in Patients with Syndromic Craniosynostosis.

INTRODUCTION: Exorbitism in patients with syndromic craniosynostosis is often managed by LeFort III (LF3) or Monobloc (MB) distraction osteogenesis (DO). This study compared short- and long-term orbital craniometrics after LF3DO/MBDO and related these findings to symptom relief. METHODS: Patients undergoing LF3DO or MBDO from 2000-2021 with pre- and postoperative imaging were included. Postoperative CTs were categorized as early (<1 year) or late (>1 year), and age-matched control CTs were compared to late postoperative scans. Superior/inferior orbital rim position, relative globe position, and orbital volume were analyzed. Symptoms were assessed by a patient-reported outcome (PRO) analysis. RESULTS: Thirty-four patients (16 LF3DO, 18 MBDO) were matched by age at surgery, sex, syndrome, and age at imaging. Time to late CT was 6.2 years (LF3DO) and 7.5 years (MBDO). Between early and late postoperative time points, LF3DO patients experienced no change in inferior rim position. MBDO patients experienced a decrease in inferior orbital rim position of 4.7mm (p=0.005), but superior orbital rim distance remained stable. Comparison of late scans and age-matched controls revealed no difference in inferior or superior orbital rim position in LF3DO patients, but the superior orbital rim distance was longer in MBDO patients (p=0.015). PRO response rate was 76% with a median follow up of 13.7 years. Most (81%) symptomatic patients improved, 19% remained symptomatic, and no patients worsened. CONCLUSIONS: LF3DO and MBDO achieved stable orbital craniometric changes, with improved stability at the inferior orbital rim after LF3DO. Craniometric changes were associated with long-term exorbitism symptom relief.

Is It Really Mandatory to Harvest the Contralateral Saphenous Vein for Use in Repair of Traumatic Injuries?

Since the transition time in surgical technique of vascular repair to current civilian practice, the great saphenous vein (GSV) remains unarguably the preferred conduit for surgical reconstruction in the lower extremity. With qualities such as accessibility, expendability, and long-term durability, it is easy to understand the enthusiasm with using the GSV in arterial or venous vascular injuries. However, the question does arise whether these detailed benefits of the GSV warrant harvest from an uninjured limb for vascular reconstruction on an injured limb. For those ardent followers of surgical dogma, harvest of contralateral vein from the uninjured lower extremity traumatic vascular repair is mandated. Unfortunately, this principle is not supported by high-quality data and remains folklore at best.

Repair of Delayed Type 1a Endoleak using Fenestrated and Parallel Endografts.

Endovascular aneurysm repair has become the first-line treatment modality for infrarenal aortic aneurysms. However, obtaining successful long-term results frequently requires reinterventions. Particularly, delayed type 1a endoleaks pose a challenging problem, as they are often associated with proximal extension of the aneurysmal process to juxtarenal or pararenal aortic segments. We describe 2 remedial techniques to repair delayed type 1a endoleak by extending the seal zone to the suprarenal aorta, while incorporating the renal arteries. In the first case, a commercially available fenestrated stent graft was used. Parallel grafting technique was used in the other case. Both cases were technically successful. Follow-up imaging revealed endoleak resolution with patent renal arteries for both patients. In addition, we describe the difference between the 2 techniques, as well as relevant anatomic and device-specific considerations.

Spatially addressed combinatorial protein libraries for recombinant antibody discovery and optimization.

Antibody discovery typically uses hybridoma- or display-based selection approaches, which lack the advantages of directly screening spatially addressed compound libraries as in small-molecule discovery. Here we apply the latter strategy to antibody discovery, using a library of ∼10,000 human germline antibody Fabs created by de novo DNA synthesis and automated protein expression and purification. In multiplexed screening assays, we obtained specific hits against seven of nine antigens. Using sequence-activity relationships and iterative mutagenesis, we optimized the binding affinities of two hits to the low nanomolar range. The matured Fabs showed full and partial antagonism activities in cell-based assays. Thus, protein drug leads can be discovered using surprisingly small libraries of proteins with known sequences, questioning the requirement for billions of members in an antibody discovery library. This methodology also provides sequence, expression and specificity information at the first step of the discovery process, and could enable novel antibody discovery in functional screens.