First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Due to their common underlying pathogenetic etiology, all these syndromes have significant phenotypic overlap of which one common feature include a predisposition to tumors, which may be benign or malignant. Together as a group, they represent one of the most common multiple congenital anomaly syndromes estimating to affect approximately one in 1000 individuals worldwide. The subcontinent of India represents one of the largest populations in the world, yet remains underserved from an aspect of clinical genetics services. In an effort to bridge this gap, the First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and Advances of New Therapeutics was held in Kochi, Kerala, India. These proceedings chronicle this timely and topical international symposium directed at discussing the best practices and therapies for individuals with neurofibromatoses and RASopathies.

Correction of Thoracic Hypokyphosis in Adolescent Scoliosis Using Patient-Specific Rod Templating.

The emphasis of surgical correction in adolescent idiopathic scoliosis (AIS) has been given to coronal plane correction of deformity without addressing the sagittal plane thoracic hypokyphosis. Thoracic hypokyphosis has been implicated in cervical malalignment, increased incidence of proximal and distal junctional kyphosis, spinopelvic incongruence, and increased incidence of low back pain. The surgeon, variability in surgical technique, and difference in rod contouring have been implicated as factors resulting in less-than-adequate restoration of thoracic kyphosis. We hypothesised that predictable correction of hypokyphosis could be achieved by using a reproducible surgical technique with patient-specific rod templating. We describe a technique of correction of AIS with dual differential rod contouring (DDC) using patient-specific rod templating to guide intraoperative rod contouring. The pre- and post-operative radiographs of 61 patients treated using this technique were reviewed to compare correction of hypokyphosis achieved with that predicted. Analysis revealed that we achieved a kyphosis within +/- 5.5 of the predicted value. The majority of patients had a post-operative kyphosis within the optimal range of 20-40 degrees. We concluded that patient-specific rod templating in DDC helps surgeons to consistently achieve sagittal correction in AIS close to a predicted value while achieving a very good coronal plane correction.

Adolescent idiopathic scoliosis : a review of aetiological theories of a multifactorial disease.

Adolescent idiopathic scoliosis (AIS), defined by an age at presentation of 11 to 18 years, has a prevalence of 0.47% and accounts for approximately 90% of all cases of idiopathic scoliosis. Despite decades of research, the exact aetiology of AIS remains unknown. It is becoming evident that it is the result of a complex interplay of genetic, internal, and environmental factors. It has been hypothesized that genetic variants act as the initial trigger that allow epigenetic factors to propagate AIS, which could also explain the wide phenotypic variation in the presentation of the disorder. A better understanding of the underlying aetiological mechanisms could help to establish the diagnosis earlier and allow a more accurate prediction of deformity progression. This, in turn, would prompt imaging and therapeutic intervention at the appropriate time, thereby achieving the best clinical outcome for this group of patients. Cite this article: Bone Joint J 2022;104-B(8):915-921.

Medium-term outcome of posterior surgery in the treatment of non-tuberculous bacterial spinal infection.

OBJECTIVE: to evaluate the outcome of posterior spinal stabilization surgery for the management of bacterial spinal infection. METHODS: 21 patients with bacterial infection were managed surgically with posterior stabilization. Outcome measures included neurological status. Follow-up data collected using Spine Tango COMI questionnaires and Euro Qol EQ-5D. RESULTS: The mean improvement in neurological deficits was 0.91 Frankel grade. Residual symptoms of pain had no or minor effect on the work or usual activities in 52% of subjects, with 88% reported having either no or mid problems with mobility. CONCLUSION: Posterior surgery can improve neurological outcome in approximately half of the patients.

Is radiolunate fusion a viable option in advanced Kienböck disease?

The management of Kienböck's disease in the advanced stages (Lichtman stages 3B and 4) remains controversial. The aim of this study was to report the results of radiolunate fusion (Chamay) in patients with advanced Kienböck with localised radiolunate chondral changes. There were six patients. The average age was 40 years and the mean follow-up was 67 months. The average postoperative visual analogue pain score was 6, which was not a significant improvement on the preoperative score. The average postoperative carpal height achieved using the Modified Bauman's Index was 1.32, significantly less than normal. The average postoperative DASH score was 41.02, not significantly better than the preoperative score. The average grip strength and satisfaction rating were 0.55 and 3.83 respectively. Three of the six patients who had radiolunate fusions were clinically defined as failures and underwent total wrist fusion. Based on these findings, although radiolunate fusion appears as an attractive proposition in patients with localised chondral changes, we do not recommend its routine use in advanced Kienböck's disease.

Dual growing rod technique followed for three to eleven years until final fusion: the effect of frequency of lengthening.

STUDY DESIGN: Retrospective case review of children completing dual growing rod treatment at our institutions. Patients had a minimum of 2 years follow-up. OBJECTIVE: To identify the factors influencing dual growing rod treatment outcome followed to final fusion. SUMMARY OF BACKGROUND DATA: Published reports on dual growing rod technique results for early onset scoliosis demonstrate it to be safe and effective in curve correction and maintenance as well as in allowing spinal growth. METHODS: Between 1990 and 2003, 13 patients with no previous surgery and noncongenital curves underwent final fusion. All had preoperative curve progression over 10 degrees after unsuccessful nonoperative treatment. There were 10 females and 3 males. Average age was 6.6 +/- 2.9 years at initial surgery. There were 3 idiopathic, 1 nonspine congenital anomaly, and 9 syndromic patients. Analysis included age at initial surgery and final fusion, number and frequency of lengthenings, and complications. Radiographic evaluation included changes in Cobb angle, T1-S1 length, and instrumentation length over the treatment period. RESULTS: Cobb angle improved from 81.0 +/- 23 degrees to 35.8 +/- 15 degrees postinitial and 27.7 +/- 17 degrees after final fusion. Average number of lengthenings was 5.2 +/- 3 at an interval of 9.4 +/- 5 months. T1-S1 length increased from 24.4 +/- 3.4 to 29.3 +/- 3.6 cm postinitial and 35.0 +/- 3.7 cm postfinal fusion. Average growth was 1.46 +/- 0.66 cm/year. Those lengthened at