Early Development of Spinal Deformities in Children Severely Affected with Spinal Muscular Atrophy after Gene Therapy with Onasemnogene Abeparvovec-Preliminary Results.

Spinal muscular atrophy (SMA) is a rare genetic disorder, with the most common form being 5q SMA. Survival of children with severe SMA is poor, yet major advances have been made in recent years in pharmaceutical treatment, such as gene-therapy, which has improved patient survival. Therefore, clinical problems, such as the development of spinal deformities in these genetically treated SMA children represent an unknown challenge in clinical work. In a retrospective case series, the development of spinal deformities was analyzed in 16 SMA children (9 male, 7 female) treated with onasemnogene abeparvovec in two institutions during the years 2020 to 2022. Ten out of sixteen patients had a significant kyphosis, and nine out of sixteen patients had significant scoliosis, with the mean curvature angles of 24 ± 27° for scoliosis, and 69 ± 15° for kyphosis. Based on these preliminary data, it can be assumed that early-onset kyphosis presents a clinical challenge in gene-therapy-treated SMA children. Larger datasets with longer follow-up times need to be collected in order to verify these preliminary observations.

Continuous Wear of Night and Day Orthosis Is a Key Factor for Improvement of Fixed Equinus Deformity after the Transverse Vulpius Procedure.

Background: Equinus foot deformity is secondary to either spasticity or contracture of the gastrocnemius-soleus complex. The plantar flexion is basically treated conservatively; several different surgical methods have been discussed. This paper focuses on the improvement of passive ankle dorsiflexion after a transverse Vulpius procedure in equinus foot deformity. Additionally, the influence of consequent postoperative wear of orthosis on the improvement of ankle range of motion was investigated. Methods: In total, 41 patients with neuromuscular impairment and 59 equinus feet deformities were surgically treated by using a transverse Vulpius procedure. A total of 19 female patients and 22 male patients with a mean age at surgery of 10.18 years (2 to 31) were included. Mean follow-up took place 12.26 ± 7.95 months after surgery. Passive ankle dorsiflexion was measured and subjective patients' satisfaction was assessed. Results: Range of motion, measured as the maximum of passive ankle joint dorsiflexion, improved significantly from -8° ± 5.9° to 11.1° ± 6.7° directly after surgery to 16.2° ± 10.7° at follow-up. The improvement of passive ankle dorsiflexion was significantly associated with the continuous wearing of night and day orthosis (p = 0.0045). Patient subjective satisfaction was very high. Conclusion: A transverse Vulpius procedure for aponeurotic gastrocnemius and soleus muscle lengthening of equinus foot deformity resulted in a significant improvement of passive ankle dorsiflexion. Positive surgical results correlated to a continuous use of orthotic devices.

Surgical Treatment of Spinal Deformities in Young Paraplegic Children with Intraspinal Tumors.

Bilateral vertical expandable prosthetic titanium rib (VEPTR) treatment using rib-to-pelvis constructs without touching the spine is a safe surgical technique to correct scoliosis while still allowing further MRI or neurosurgical interventions. In this retrospective cohort study, 4 paraplegic children with spinal deformity after intraspinal tumors and 4 children with neuromuscular diseases were compared. VEPTR treatment was able to considerably reduce the main scoliotic curve in both patient groups (41 vs. 40%). However, the tumor group constantly showed more severe curve progression over time and less favorable pelvic obliquity control. In conclusion, bilateral VEPTR can be expected to be less satisfying in children with tumors.

Detection of Bacteria Colonizing Titanium Spinal Implants in Children.

BACKGROUND: Bacterial colonization of spinal implants may cause severe complications in patients with early-onset scoliosis. Correct diagnosis and detection of microbiologic formation is crucial to prevent delayed infections caused by bacterial colonization. The purposes of this study were to estimate the rate and risk factors of colonization of vertical expandable prosthetic titanium rib (VEPTR) implants in children and to compare the different methods for detecting microbiologic formation on the spinal implants. METHODS: We evaluated prospectively a group of 42 children with spinal deformities with an overall of 95 lengthening surgeries and applied different methods to detect potential bacterial colonization of VEPTR implants: swab of the implant, swab with culture of tissue, analysis of the removed lock, polymerase chain reaction (PCR), and confocal microscopy. Potential risk factors were evaluated. RESULTS: Of 42 patients, 17 (40%) were rated positive for bacterial colonization with Propionibacterium acnes and coagulase-negative staphylococci being the most commonly found bacteria. Risk factors for colonization were increasing age, body height, and weight. The swab with culture of removed tissue yielded most positive results, whereas direct microscopy and PCR were the least sensitive detection methods. Furthermore, commonly used infectious blood parameters were inconclusive. CONCLUSIONS: Although the impact of bacterial colonized implants on the health of the patients is not fully elucidated, clinicians aim for prevention of microbiologic formation on implanted devices. Therefore, reliable, inexpensive, and easy to apply diagnostic tools are indispensable to detect colonization. Based on our data, the swab together with tissue culture has the potential to become the method of choice for future diagnosis.

Biographic Characteristics and Factors Perceived as Affecting Female and Male Careers in Academic Surgery: The Tenured Gender Battle to Make It to the Top.

PURPOSE: Given the high attrition rate in the field of academic surgery, we aimed to characterise the professional and personal situations of female and male academic surgeons as well as to gather data on their respective perceptions of career advancement and work satisfaction. METHODS: We conducted a cross-sectional survey in Germany, inviting all identifiable academically highly qualified female surgeons and their male counterparts in a 1:2 ratio to participate. An anonymous 103-item online questionnaire was designed and the data collected between July and September 2014. RESULTS: The questionnaire was sent to 93 female and 200 male surgeons, of whom 63 women (67.7%) and 70 men (35.0%) replied. The average age was 47.5 and 47.1 years, respectively. Respondents identified 'high degree of expertise', 'ambition', and 'clarity of one's professional aims' as important factors affecting professional career development. Both groups felt 'workload', 'working hours/shifts', and 'gender' to be a hindrance, the latter of significantly greater importance to female surgeons. The mean work satisfaction scores were high in both female (69.5%) and male (75.7%) surgeons. The predictors 'support from superiors' (standardised ß coefficient = 0.41) and 'manual aptitude' (ß = 0.41) contributed incrementally to the variance in 'high degree of work satisfaction' (90-100%) observed for female surgeons. However, childcare provided by 'kindergarten/crèche/after-school care' had the greatest negative predictive value (ß = -1.33). CONCLUSIONS: Although there are many parallels, female faculty members experience the culture of academic surgery to some extent differently from their male counterparts, especially when impacted by parenthood and childcare. Faculty development programmes need to develop strategies to improve perceived equality in career opportunities by respecting individuals' requirements as well as offering gender-appropriate career guidance.