Recent Follow-up Research Articles

Lumbar Vertebral Body Tethering: Single Center Outcomes and Reoperations in a Consecutive Series of 106 Patients.

Retrospective cohort study. To evaluate the outcomes and reoperation rates in patients with adolescent idiopathic scoliosis (AIS) undergoing lumbar anterior vertebral body tethering (AVBT). Anterior vertebral body tethering (AVBT) is a viable option in growing children. The benefit of motion preservation must be balanced by a higher reoperation rate. A paucity of reports has addressed lumbar AVBT. A single-center retrospective study was conducted to identify all patients who underwent lumbar AVBT (lowest instrumented vertebra L3 or L4) with a minimum 2 years of follow-up. Clinical and radiographic parameters, including complications and reoperations, were also collected. Statistical analysis was performed using Student's t-test for qualitative variables. From a dataset of 551 patients, we identified 106 patients (89% female) who underwent a lumbar AVBT (33 lumbar only, 73 bilateral thoracic/lumbar) with mean follow-up of 4.1±1.6 years at which point 85% (90/106) had reached skeletal maturity. Preoperatively, these patients were skeletally immature (age: 12.8±1.3y, Sanders: 3.3±0.8, R=0.6±0.9) with a lumbar coronal curve angle of 49.6°±11.2 which corrected to 19.9°±11.2 (P <0.0001) at most recent follow-up. At the latest follow-up, 76.4% (81/106) of the patients harbored a coronal curve angle of < 30°. Twenty patients (18.9%) underwent 23 reoperations, with overcorrection being the most common (10/23, 43%). Broken tethers led to reoperation in 3 instances (3/23, 13%). Six patients in the cohort needed a posterior spinal fusion (6/106, 5.4%). Vertebral body tethering is a viable treatment option for skeletally immature patients with idiopathic scoliosis. This report is the largest to date for lumbar AVBT, highlighting that 84% of patients harbored a curve < 35° at the latest follow-up but with an 18.9% reoperation rate. 3.

Pathways from prenatal cocaine exposure to adult substance use and behavior

This is a report from the most recent adult follow-up of the longest running cohort study of prenatal cocaine exposure (PCE), in which women were enrolled prenatally and offspring were assessed in infancy, childhood, adolescence, and young adulthood. In previous studies, PCE was linked to offspring behavior problems such as early substance use and externalizing behavior problems. The current analyses examine pathways from PCE to behavioral outcomes in offspring at the 25-year assessment. Prenatal cocaine exposure was moderate in this cohort; most women decreased or discontinued use after the first trimester. During the first and third trimesters, 38% and 11% used cocaine, respectively. This represents the most common pattern of PCE in non-treatment samples. At this phase, the adult offspring were, on average, 27.3 years old (range = 25–30), had 13.4 years of education, 83% were employed, 55% were Black, and 55% were female. Offspring who were exposed to cocaine during the first trimester were significantly more likely to use marijuana in the past year, report more arrests, and have poorer scores on a decision-making task, controlling for other prenatal substance exposure, demographic, and socioeconomic factors. In mediation analyses, there were indirect pathways from PCE to current marijuana use through early initiation of marijuana use and 21-year marijuana use, and through 15-year status offenses and 21-year marijuana use. There was also an indirect pathway from PCE to lifetime arrests through early initiation of marijuana use and 21-year Conduct Disorder, although the direct pathway from PCE to arrests also remained significant. These findings are consistent with those from previous phases and are an indication that there are detrimental associations with PCE that persist across developmental stages and into adulthood.

Suppressive antibiotic therapy for infectious endocarditis

ObjectivesSuppressive antibiotic therapy (SAT) is a long-term antibiotic strategy at times applied when an indicated surgical management of infective endocarditis (IE) is not possible. Our aim was to describe the characteristics and outcomes of patients having received SAT for IE. MethodsWe conducted a retrospective, observational study at Strasbourg University Hospital, France between January 2020 and May 2023. We reviewed all medical files taken into consideration at weekly meetings of the local Multidisciplinary Endocarditis Team (MET) during the study period. We included patients having received SAT following the MET evaluation. The primary endpoint was all-cause mortality at most recent follow-up. Secondary endpoints included all-cause mortality at 3 and 6 months, infection relapse, and tolerance issues attributed to SAT. ResultsThe MET considered 251 patients during the study time, among whom 22 (9 %) had received SAT. Mean age was 77.2 ± 12.3 years. Patients were highly comorbid with a mean Charlson index score of 6.6 ± 2.5. Main indication for SAT was surgery indicated but not performed or an infected device not removed (20/22). Fourteen patients had prosthetic valve IE, including 9 TAVIs. Six patients had IE affecting cardiac implantable electronic devices. Staphylococcus aureus and enterococci were the main bacteria involved (6/22 each). Median follow-up time was 249 days (IQR 95–457 days). Mortality at most recent follow-up was 23 % (5/22). Three patients (14 %) presented tolerance issues attributed to SAT, and two patients suffered late infectious relapse. ConclusionMortality at most recent follow-up was low and tolerance issues were rare for patients under SAT, which might be a palliative approach to consider when optimal surgery or device removal is not possible.

Old for young kidney transplantation: a responsible option for our patients to reduce waiting time?

PurposeThe Eurotransplant Senior program allocating grafts from donors ≥ 65 years to recipients aged ≥ 65 years has proven good results within the last 20 years. However, “old” grafts are also allocated to younger recipients < 65 years, and this outcome of “old for young” kidney transplantations (KT) still lacks detailed investigations.MethodsAll “old for young” KT performed at four tertiary referral centers were retrospectively compared including a recent follow-up, stratifying for “old for young” (donor ≥ 65 years to recipient < 65 years) vs. “very old for young” KT (donor ≥ 70 years to recipient < 65 years).ResultsOverall, 99 patients were included with 56 (56.6%) “old for young” and 43 (43.4%) “very old for young” KT. The median waiting time did not differ (60.7 vs. 45.8 months, respectively) at comparable living donation rates (57.1% vs. 44.2%) as well as intra- and postoperative results. At a median follow-up of 44 months (range 1; 133), the 3-year graft survival of 91% vs. 87% did not significantly vary. In subgroup analyses assessing living donation or donation after brain death (DBD) KT only, the graft survival was significantly longer for “old for young” KT within the living donation subgroup. In multivariate Cox regression analyses, the presence of panel-reactive antibodies was the only significant impact factor on graft survival (HR 8.32, p = 0.001).ConclusionThis analysis clearly demonstrates the effectiveness of the "old for young" approach, enabling favorable perioperative results as well as comparable data of graft- and overall survival, while reducing waiting time for eligible patients.

A172 A CLASSIC CASE OF WHIPPLE'S DISEASE

Abstract Background Whipple’s disease is a systemic disorder caused by the Gram-positive bacillus Tropheryma whippelii. It is classically defined by the four cardinal clinical manifestations of arthralgias, weight loss, diarrhea and abdominal pain. Classic Whipple’s disease is considered extremely rare, with an estimated global incidence of 30 cases per year, though this may be an underestimate. Aims To present a case of classic Whipple’s disease, so as to raise awareness and clinical suspicion for this rare condition. Methods We performed a retrospective chart review of a case of classic Whipple’s disease diagnosed in Saint John, NB, in 2020. Results A 55-year-old female presented to hospital with intractable weakness and diarrhea. Her history was notable for several years of right leg weakness, myalgias and low-grade fevers. More acutely, she presented to hospital due to worsening secretory diarrhea resulting in 15kg weight loss. Initial investigations were remarkable for an elevated C-reactive protein. The patient was admitted for coordinated evaluation for possible rheumatologic and infectious causes. As part of that workup, colonoscopy was performed. Colonoscopy revealed an abnormal ileum, with villi described as edematous with a mosaic pattern alternating between erythematous and “white tipped”. On histologic assessment, ileal biopsies showed macrophages with PAS-positive diastase resistant granules suspicious for Whipple’s disease. A follow-up esophagogastroduodenoscopy with duodenal biopsies was thus performed to gain further tissue for confirmatory testing. The duodenal mucosa was also noted to have a mosaic pattern with hypertrophic villi alternating between pale and erythematous in appearance. Duodenal biopsies were taken and sent for PCR testing. This testing was positive for T. whippelii, confirming the diagnosis of Whipple’s disease. The patient was initiated on long-term antibiotic therapy with ceftriaxone transitioning to trimethoprim-sulfamethoxazole prior to discharge. She unfortunately re-presented one month post-discharge with recurrent fevers, malaise and arthralgias. Given suspicion that her disease may be resistant to trimethoprim-sulfamethoxazole, she was transitioned to doxycycline and hydroxychloroquine as second-line therapy. She clinically improved on this regimen, and was able to be de-escalated to long-term doxycycline monotherapy after one year. At a recent follow-up, nearly three years from her initial diagnosis, she was doing well with essentially no ongoing symptoms of her Whipple’s disease. Conclusions Whipple’s disease is a rare infection presenting with intractable diarrhea and abdominal discomfort. Our case highlights the excellent clinical response that can be achieved with successful diagnosis and management of this otherwise debilitating disease. Funding Agencies None

A 12-year experience in the management of blunt thoracic aortic injury in Otautahi Christchurch.

Blunt thoracic aortic injury (BTAI) is associated with a high mortality and is the second most common cause of death from trauma. The approach to major trauma, imaging technology and advancement in endovascular therapy have revolutionised the management of BTAI. Endovascular therapy has now become the gold standard technique replacing surgery with its high mortality and morbidity in unstable patients. We aim to assess the outcomes following management of BTAI. This is a retrospective study of all patients with BTAI between 1 January 2010 and 1 January 2022. Data were obtained from electronic health records. The grading of BTAI severity was done based on the Society of Vascular Surgery (SVS) Criteria. Fifty patients were included in the study analysis. The most common cause of BTAI was due to high-speed motor vehicle accidents (MVA) (36 patients, 72%). Grade 1 and grade 3 BTAI injuries were mostly encountered in 40% and 30% of the study cohort, respectively. Twenty-three patients (46%) underwent thoracic endovascular aortic repair (TEVAR). There was no secondary aortic re-intervention, conversion to open surgery or aortic-related deaths at 30days or at most recent follow-up. Management of BTAI in our centre compares well with currently published studies. Long-term studies are warranted to guide clinicians in areas of controversy in BTAI management.

One-stage posterior transpedicular debridement, hemi-interbody and unilateral-posterior bone grafting, and instrumentation for the treatment of thoracic spinal tuberculosis: a retrospective study.

To investigate the clinical efficacy and feasibility of the surgical treatment of thoracic spinal tuberculosis using one-stage posterior instrumentation, transpedicular debridement, and hemi-interbody and unilateral posterior bone grafting. Fifty-six patients with thoracic spinal tuberculosis who underwent surgery performed by a single surgeon between September 2009 and August 2020 were enrolled in this study. Based on data from the erythrocyte sedimentation rate (ESR), Visual Analog Scale (VAS), and Cobb angle before surgery, after surgery, and at the most recent follow-up, clinical effectiveness was assessed using statistical analysis. The variables investigated included operating time, blood loss, complications, neurological function, and hemi-interbody fusion. None of the patients experienced significant surgery-associated complications. At the last follow-up, 23 of the 25 patients (92%) with neurological impairment showed improvement. The thoracic kyphotic angle was significantly decreased from 24.1 ± 9.9° to 13.4 ± 8.6° after operation (P < 0.05), and the angle was 14.44 ± 8.8° at final follow-up (P < 0.05). The Visual Analog Scale significantly decreased from 6.7 ± 1.4 preoperatively to 2.3 ± 0.8 postoperatively (P < 0.05) and finally to 1.2 ± 0.7 at the last follow-up (P < 0.05). Bone fusion was confirmed in 56 patients at 3-6 months postoperatively. One-stage posterior transpedicular debridement, hemi-interbody and unilateral posterior bone grafting, and instrumentation are effective and feasible treatment methods for thoracic spinal tuberculosis.

Extraskeletal osteosarcoma misdiagnosed as metastatic breast cancer: A case report

IntroductionExtraskeletal osteosarcomas are rare tumors with poor overall survival and a high propensity for recurrence. It frequently arises in the lower extremities and has been reported to metastasize commonly in the lungs. Controversy exists as to whether it should be treated as a soft tissue sarcoma or an osteosarcoma. Various adjuvant treatment approaches have also been studied with conflicting results. Case reportWe present a 73-year-old female with a painless, gradually enlarging right upper arm mass for 2 months. She previously underwent a left mastectomy 5 years ago for a stage II breast cancer. Preoperative imaging showed a resectable, heterogenous right upper arm mass. She subsequently underwent radical excision with frozen section revealing spindle cell neoplasm. Final histopathology was consistent with extraskeletal osteosarcoma. The patient remains disease-free as of most recent follow-up. DiscussionThere are several proposed mechanisms for extraskeletal osteosarcomas. Based on the history and location of the tumor, we initially thought that this was metastatic breast cancer. Preoperative imaging determines resectability and surgical approach. Radical surgery is frequently performed which largely depends on the site of the tumor. Complete primary resection with adequate margins remains to be the treatment of choice to prevent recurrence or metastasis. The role of adjuvant radiotherapy or chemotherapy is still to be established. ConclusionThis case highlights the various treatment options and the need for further research on its clinical behavior and potential targeted therapies.

Thoracic Reirradiation with Stereotactic Body Radiation Therapy (SBRT) for Recurrent Advanced Non-Small Cell Lung Cancer (NSCLC)

BackgroundNon-small cell lung cancer (NSCLC) local control remains suboptimal with rates around 75%. Stereotactic body radiation therapy (SBRT) is an option for isolated local recurrences of small volume recurrences. This study investigates the safety and efficacy of 60 Gy in eight fractions in large volume local recurrences. MethodsA retrospective chart review of patients treated with salvage SBRT for NSCLC lung parenchymal recurrence between July 2013 and February 2020. Reirradiation prescribed dose was 60 Gy in eight fractions utilizing SBRT technique. The primary endpoint was local control at most recent follow-up or death. Secondary endpoints included overall survival, disease-free interval, cancer-specific survival, and treatment related toxicities. ResultsSeven patients met criteria. Median follow up time was 38 months (18.1-72.4). Median age was 67 years (63-80). The median time to reirradiation was 18.2 months (7.3-28.6). Retreatment median ITV was 57.9cc (15.8-344.6) and PTV median was 113.6cc (38.3-506.9). Local control was maintained in four of seven patients (57.1%). Two of the seven patients (28.6%) remained alive. Median disease-free interval was 22.5 months (11-65). Three of seven patients (42.9%) had grade two toxicities. One patient (14.3%) had a grade 3 rib/chest wall toxicity with concurrent disease recurrence invading the chest wall. ConclusionThis study reports that SBRT of 60 Gy in eight fractions was delivered safely and effectively to large volume recurrent NSCLC previously treated with radiation therapy. The disease-free interval of nearly 2 years is meaningful for patients’ quality of life and duration of time off of systemic therapy.

Reconstruction of Chronic Quadriceps Tendon Rupture: The Quadriceps Advancement and Imbrication Technique

BackgroundChronic extensor mechanism disruption after total knee arthroplasty (TKA) is a rare but challenging condition. There are several surgical approaches for quadriceps tendon repairs. In this report, we present a modified surgical technique for quadriceps tendon repair in chronic extensor mechanism disruption without the use of allografts or mesh augmentation. MethodsWe retrospectively reviewed 12 consecutive cases of chronic extensor mechanism with complete quadriceps tendon ruptures after TKA that underwent the advancement and imbrication technique. Patient outcomes were evaluated using the Knee Injury and Osteoarthritis Outcome Score for Joint Replacement, the range of motion and extensor lag measurements, and standardized lateral radiographs were reviewed for Insall-Salvati-Ratio preoperatively and at their most recent follow-up visit. ResultsThere were 12 knees from patients who had a mean age of 72 years (range, 62 to 81) and were evaluated with a mean follow-up of 15.9 months (range, 11.4 to 50.9). The extensor lag significantly improved from 40.8 ± 31.9° (range, 10 to 90°) to 2.9 ± 6.9° (P = .014), the Insall-Salvati-Ratio significantly changed from 0.87 to 1.07 (P = .010), and the Knee Injury and Osteoarthritis Outcome Score for Joint Replacement showed a significant difference: a raw score of 13.0 ± 5.8 versus 8.7 ± 5.6 (P = .002) and an interval score of 54.1 ± 14.0 versus 66.2 ± 15.6 (P = .001). ConclusionsReconstruction of extensor mechanism in chronic quadriceps tendon ruptures after TKA with the advancement and imbrication technique showed excellent functional outcomes with no extensor lag and excellent restoration of motion. This technique can be combined with TKA revision surgery or used on its own. To ensure successful outcomes, the authors favor rigid immobilization for 12 weeks before starting mobilization.

Danazol's use for menstrual suppression in transgender individuals: A retrospective multi-site cohort study.

Danazol is a synthetic progestin with androgenic effects that is approved by the Food and Drug Administration for treatment of endometriosis, benign fibrocystic breast disease, and hereditary angioedema. In recent years, increasing numbers of transgender and nonbinary individuals seeking menstrual suppression have been offered danazol due to its potential to both induce amenorrhea and cause reversible androgenic side effects including pigmentation of vellus hairs and voice changes, which may be desirable in this population. There are currently no studies assessing use of danazol within the transgender population for menstrual suppression. This study's primary aim was to evaluate the use of danazol as a menstrual suppression agent in transgender patients. This was a retrospective multisite cohort study of all individuals who had been on danazol at two tertiary care centers between 2000 and 2022. All patients prescribed danazol were identified using a search of the electronic medical records. For demographic purposes, comparisons were made between those who did and did not use danazol for the purpose of menstrual suppression. A detailed chart review was then performed to analyze the experiences of menstrual suppression in transgender and nonbinary patients. Most transgender and nonbinary patients on danazol for menstrual suppression remained on it at their most recent follow-up visit, and many charts noted improvements in gender dysphoria, pelvic pain, dysmenorrhea, endometriosis, and heavy menstrual bleeding. Most transgender patients achieved amenorrhea. Danazol may be a reasonable option for menstrual suppression in transgender and nonbinary patients. Our findings show its potential to not only induce amenorrhea but cause desired androgenic symptoms and improve gender dysphoria, pelvic pain, dysmenorrhea, endometriosis, and heavy bleeding. While the androgenic effects of danazol are less desirable in cisgender populations, it is an attractive option for menstrual suppression in transgender and nonbinary patients.

The Relationship Between Choroidal Abnormalities and Visual Outcomes in Pediatric Patients With NF1-Associated Optic Pathway Gliomas.

Choroidal abnormalities (CAs) visualized on near-infrared reflectance (NIR) imaging are a new diagnostic criterion for neurofibromatosis type 1 (NF1), but the association between the presence of CAs and visual function remains unknown. This study evaluated the relationship between visual acuity (VA) with the presence, number, or total area of CAs visualized by NIR in children with NF1-associated optic pathway gliomas (NF1-OPGs). Patients (<18 years) enrolled in a prospective longitudinal study of children with NF1-associated OPGs from 3 institutions were eligible if they had optical coherence tomography (OCT) of the macula (Heidelberg Spectralis) with ≥1 year of follow-up. The central 30° NIR images were reviewed by 2 neuro-ophthalmologists who manually calculated the number and total area of CAs. VA (logMAR) was measured using a standardized protocol. Cross-sectional associations of presence, number, and total area of CAs with VA, retinal nerve fiber layer thickness (RNFL), and ganglion cell-inner plexiform layer thickness were evaluated at the first and most recent visits using regression models. Intereye correlation was accounted for using generalized estimating equations. Eighty-two eyes of 41 children (56% female) were included. The mean ± SD age at the first OCT was 10.1 ± 3.3 years, with a mean follow-up of 20.4 ± 7.2 months. At study entry, CAs were present in 46% of eyes with a mean number of 2.1 ± 1.7 and a mean total area of 2.0 ± 1.7 mm 2 per eye. At the most recent follow-up, CAs were present in 48% of eyes with a mean number of 2.2 ± 1.8 lesions and a mean total area of 2.3 ± 2.1 mm 2 per eye. Neither VA nor OCT parameters at first and follow-up visits were associated with the presence, number, or total area of CAs (all P > 0.05). CAs are prevalent but not ubiquitous, in children with NF1-OPGs. Although CAs are a diagnostic criterion for NF1, their presence and size do not appear to be associated with visual function.

Surgical management of pediatric spinal aneurysmal bone cysts: patient series.

Aneurysmal bone cysts (ABCs) are rare, highly vascular osteolytic bone lesions that predominantly affect pediatric populations. This report evaluates the clinicopathological data of pediatric patients with spinal ABCs. The medical records for all patients at Children's Hospital Los Angeles with biopsy-proven ABCs of the spine between 1998 and 2018 were evaluated. Seventeen patients, 6 males and 11 females, were identified. The mean age at surgery was 10.4 years (range, 3.5-20 years). The most common presenting complaint was pain at the lesion site 16/17 (94%), followed by lower-extremity weakness 8/17 (47%). Resection and intralesional curettage were performed in all patients. Three (18%) of 17 patients underwent selective arterial embolization prior to resection. Spinal stability was compromised in 15 of 17 patients (88%), requiring instrumented fusion. Five (29%) of the 17 patients received additional therapy including radiation, calcitonin-methylprednisolone, or phenol. Four (23.5%) of 17 patients experienced a recurrence, and the mean time to recurrence was 15 months. The postoperative follow-up ranged from 6 to 108 months (median, 28 months). Reoperation occurred after an average of 35 months. At the recent follow-up, patients were free of disease. Gross-total resection by intralesional curettage with case-dependent instrumented spinal fusion for instability remains an effective strategy for managing pediatric spinal ABCs. Long-term follow-up is necessary to detect tumor recurrence.

Sinonasal Glomangiopericytoma with Skull Base Involvement: A Diagnostic Dilemma.

Introduction: Glomangiopericytoma (GPC) is a rare type of neoplasm with hemangiopericytoma-like vasculature and perivascular hyalinization of capillary-sized veins. CD34 and S100 protein staining might be positive in a small percentage of GPC. Solitary fibrous tumors (SFTs) present clinically like GPC. However, challenges remain when differentiating GPC from SFT. Case Presentation: A 37-year-old male, smoker, presented with 3 years history of right-sided epistaxis and nasal congestion. He was also complaining of hyposmia but no headaches or visual complaints. On nasal endoscopy, he was found to have a right-sided nasal mass occupying the ethmoid cavity. Computed tomography showed a right sinonasal mass abutting the anterior skull base and magnetic resonance imaging demonstrated a hyperintense, enhancing mass within the right ethmoid cavity, superior septum, and anterior skull base. The patient underwent endoscopic resection with gross total resection and skull base reconstruction. Postoperative pathology initially was thought to be an SFT; however, subsequent STAT6 expression was negative, and therefore GPC diagnosis was confirmed. At the most recent follow-up (6 months), the patient remained free of local disease. Discussion: SFT, unlike GPC, stains strongly for CD34, in this case, due to strong CD34, the diagnosis of SFT was initially made. Nuclear STAT6 expression is highly specific and sensitive for SFT. This later returned as negative; therefore, GPC was confirmed. Conclusion: We present a case of sinonasal GPC with skull base involvement that was treated with endoscopic resection. At the most recent follow-up (6 months), the patient remained free of local disease.

Socioeconomic Disadvantage Predicts Decreased Likelihood of Maintaining a Functional Knee Arthroplasty Following Treatment for Prosthetic Joint Infection

BackgroundProsthetic joint infection (PJI) carries major morbidity and mortality as well as a complicated and lengthy treatment course. In patients who have high degrees of socioeconomic disadvantage, this may be a particularly devastating complication. Our study sought to evaluate the impact of socioeconomic deprivation on outcomes following treatment for PJI of the knee. MethodsWe conducted a retrospective review of revision total knee arthroplasty (TKA) procedures performed for the treatment of initial PJI between 2008 and 2020 at a single tertiary care center in the United States. The Area Deprivation Index (ADI) was used to quantify socioeconomic deprivation. The primary outcome measure was presence of a functional knee joint at the time of most recent follow-up defined as TKA components or an articulating spacer. A total of 96 patients were included for analysis. The median follow-up duration was 26.5 months. ResultsThere was no significant difference in the rate of treatment failure (P = .63). However, the proportion of patients who had a functional knee arthroplasty (in contrast to having undergone arthrodesis, amputation, or retention of a static spacer) declined significantly with increasing ADI index (81.8% for the least disadvantaged group, 58.7% for the middle group, 42.9% for the most disadvantaged group, P = .021). ConclusionsPatients who have a higher socioeconomic disadvantage as measured by ADI are less likely to maintain a functional knee arthroplasty following treatment for TKA PJI. These findings support continued efforts to improve access to care and optimize treatment plans for patients who have socioeconomic disadvantage.

Predicting radiographic outcomes of vertebral body tethering in adolescent idiopathic scoliosis patients using machine learning.

Anterior Vertebral Body Tethering (AVBT) is a growing alternative treatment for adolescent idiopathic scoliosis (AIS), offering an option besides spinal fusion. While AVBT aims to correct spinal deformity through growth correction, its outcomes have been mixed. To improve surgical outcomes, this study aimed to develop a machine learning-based tool to predict short- and midterm spinal curve correction in AIS patients who underwent AVBT surgery, using the most predictive clinical, radiographic, and surgical parameters. After institutional review board approval and based on inclusion criteria, 91 AIS patients who underwent AVBT surgery were selected from the Shriners Hospitals for Children, Philadelphia. For all patients, longitudinal standing (PA or AP, and lateral) and side bending spinal Radiographs were retrospectively obtained at six visits: preop and first standing, one year, two years, five years postop, and at the most recent follow-up. Demographic, radiographic, and surgical features associated with curve correction were collected. The sequential backward feature selection method was used to eliminate correlated features and to provide a rank-ordered list of the most predictive features of the AVBT correction. A Gradient Boosting Regressor (GBR) model was trained and tested using the selected features to predict the final correction of the curve in AIS patients. Eleven most predictive features were identified. The GBR model predicted the final Cobb angle with an average error of 6.3 ± 5.6 degrees. The model also provided a prediction interval, where 84% of the actual values were within the 90% prediction interval. A list of the most predictive features for AVBT curve correction was provided. The GBR model, trained on these features, predicted the final curve magnitude with a clinically acceptable margin of error. This model can be used as a clinical tool to plan AVBT surgical parameters and improve outcomes.

Response to PD-1 inhibitor in SMARCB1‑deficient undifferentiated rectal carcinoma with low TMB, proficient MMR and BRAF V600E mutation: a case report and literature review

Background Despite major advancements, effective treatment for patients with SMARCB1-deficient cancers has remained elusive. Here, we report the first case of a SMARCB1-deficient undifferentiated carcinoma in the rectum expressing high PD-L1 and responding to a PD-1 inhibitor, as well as with low tumor mutation burden (TMB), proficient mismatch repair (MMR) and BRAF V600E mutation.Case presentation A 35-year-old man visited our hospital complaining of increased defecation frequency, bloody stools and weight loss of 3 kg for one month. Colonoscopy revealed an ulcerated and irregular mass approximately 8–12 cm from the anus. Surgical resection was performed. Histopathological findings revealed that the tumor cells had poor connectivity with each other; each cell had eosinophilic cytoplasm and a polymorphic nucleus. Brisk mitotic activity and necrosis were frequently observed in the tumor cells. Immunohistochemical examination showed that the tumor cells were negative for SMARCB1. The tumor proportion score (TPS) of PD-L1 (22C3) expression was 95%, and the combined positive score (CPS) was 100; the tumor was mismatch repair (MMR) proficient. Next-generation sequencing showed a low tumor mutation burden (TMB), as well as the BRAF V600E mutation. The final diagnosis was SMARCB1-deficient undifferentiated carcinoma. Chemotherapy was useless in this case. His tumor recurred during chemotherapy, and he then received targeted therapy with tirelizumab, an inhibitor of PD-1. At present, his general condition is good. A recent computed tomography (CT) scan showed that the tumor had disappeared, indicating that the immunotherapy was effective. Astonishingly, his most recent follow-up was in August, and his condition continued to improve with the tumor has disappeared.ConclusionSMARCB1‑deficient undifferentiated carcinoma in the rectum is extremely rare, and it has aggressive histological malignancy and poor progression. The observed response to PD-1 inhibitors suggests a role for prospective use of SMARCB1 alterations as a predictive marker for immune checkpoint blockade.

Outcomes of surgically managed adult traumatic brachial plexus injuries in an upper-middle-income country

BackgroundTraumatic brachial plexus injuries (TBPIs) are debilitating and complex to treat. The last five decades have seen advances in surgical management, and consequently improved functional outcomes in patients with these injuries. There is limited data available describing the outcomes of surgically managed TBPIs within the South African context. This study aimed to identify the common causes of injury, injury characteristics, and functional outcomes of surgically managed patients with TBPIs. MethodsWe conducted a retrospective chart review of all adult patients that underwent surgery for TBPIs over a period of ten years at a specialised hand unit in South Africa. The minimum follow-up period was one year. Patient demographic details, injury characteristics and functional outcomes were collected. Statistical analysis was performed to determine factors associated with functional outcomes. A good functional outcome for recovery was defined as a Medical Research Council (MRC) grade of three or more for the affected elements of the plexus at the most recent follow-up. ResultsForty-seven patients of median age 32 years were included in the final analysis. Most patients were male (87.2 %). The majority of patients were injured in motor vehicle accidents (MVAs) or from penetrating stab wounds (48.9 % and 38.3 % respectively). The median pre-operative MRC grade of the affected elements of the brachial plexus was 0.0, and post-operatively was 2.0. Fourteen patients (14 of 47, 29.8 %) had a good outcome and 33 had a poor outcome (33 of 47, 70.2 %). There was no difference in outcome comparing penetrating injury mechanisms to closed traction or blunt injuries, (p = 0.386, OR 1.75, 95 % CI 0.49–6.20). All patients with pan-plexal injuries had a poor outcome (15 of 33, 46 %). All patients who received intercostal (6 of 33, 18 %) or phrenic nerve transfers (3 of 33, 9 %) had a poor outcome. ConclusionAdult traumatic BPIs in this South African sample typically presented more than two months after injury and were comprised of a high proportion of penetrating injuries. Just under a third of surgically managed patients had a good outcome. Pan plexal injuries have uniformly poor outcomes. We recommend early referral for all TBPIs to a unit that manages BPI to improve outcomes.

Buspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study

ABSTRACT Background Williams syndrome (WS) is a rare genetic disorder associated with a high prevalence of anxiety disorders. Evidence-based pharmacologic treatments for anxiety in WS are lacking. The purpose of this study is to provide naturalistic data on the use of buspirone for the treatment of anxiety in WS. Research design and methods Medical records of 24 individuals with Williams syndrome (ages 7–47 years) and anxiety who received treatment with buspirone were reviewed. Treatment response to buspirone was rated by assigning a retrospective Clinical Global Impression Improvement subscale (CGI-I) score. Results Twenty-three of 24 (96%) patients completed at least a 16-week treatment course with buspirone. Sixteen patients (67%; 95% CI 47%, 82%) were treatment responders (CGI-I ≤ 2). Only 1 (4%) patient discontinued buspirone due to a treatment-emergent side effect (nausea and vomiting). The most common side effect was nausea (13%). Twenty (84%) patients remained on buspirone at the time of their most recent follow-up visit. Conclusions In this retrospective study, the majority of patients responded to a 16-week course of buspirone. Prospective studies are warranted to further assess the efficacy and tolerability of buspirone for anxiety in WS.

Unicompartmental knee replacement combined with anterior cruciate ligament reconstruction provides comparable results to total knee replacement with no increased risk of complications.

There is controversy about the management of unicompartmental knee osteoarthritis (OA) in young, active patients with anterior cruciate ligament (ACL) insufficiency. This study compares the subjective, radiological, and functional results of total knee replacement (TKR) vs. combined medial unicompartmental knee replacement (UKR) with ACL reconstruction. Twelve patients suffering from medial OA and ACL deficiency with varus knee deformity and/or tibial slope<10° and absence of patellofemoral-related problems were eligible for combined UKR and ACL reconstruction (Group A). Twenty-six patients matched for age, male/female ratio and body mass index who received TKR in the same time frame were included as a control group (Group B). Oxford Knee Score (OKS), WOMAC index of osteoarthritis, Knee Osteoarthritis Outcome Score (KOOS), and routine X-rays were used for assessment. Ten years after surgery, the mean overall KOOS score, OKS, WOMAC index increased from preoperatively, showing a statistically significant difference (p<0.001). In terms of KOOS, OKS, or WOMAC scores at the most recent follow-up, there was no discernible difference between the groups (p=n.s.). Three years following surgery, one female patient in group A received revision TKR due to the lateral compartment's osteoarthritis developing and the patient's pain persisting. Concerning radiographic assessment, at the most recent follow-up (average 7.9years in group A and 8.8years in group B), there were no radiographic indications of implant loosening or proof of pathologic radiolucent lines. UKR combined with ACL restoration offers clinical and radiographic outcomes comparable to TKR 10years following surgery with no elevated risk of complications.