scholarly journals B.07 Review of patients with Spinal Muscular Atrophy treated with Nusinersen in Ontario

2018 ◽  
Vol 45 (s2) ◽  
pp. S13-S13
Author(s):  
S Remtulla ◽  
E Zapata-Aldana ◽  
H Gonorazky ◽  
J Boyd ◽  
C Scholtes ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Case Series ◽  
Type I ◽  
Retrospective Case ◽  
Policy Makers ◽  
Hospital Administrators ◽  
Post Marketing ◽  
Health Canada

Background: Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disease. In June 2017, Health Canada approved Nusinersen, currently the only available drug for SMA. Since 2016, patients in Ontario have been treated clinically with Nusinersen through different access programs. Methods: Retrospective case series of patients with SMA treated clinically with Nusinersen in Ontario, describing clinical characteristics and logistics of intrathecal Nusinersen administration. Results: Twenty patients have been treated across four centres. To date, we have reviewed 8 cases at one centre (seven SMA Type I, one SMA Type II). Age at first dose ranged from 3-156 months and disease duration 9-166 months. Patients had received 4-7 doses at last evaluation. Three patients with scoliosis (2 with spinal rods) required fluoroscopy-guided radiologist administration, and 4 required general anesthesia. No complications/adverse events were reported. At last follow up, 5/8 families reported improved daily activities. Of 5 patients with baseline and follow up motor function testing, 3 demonstrated improved scores. One patient died due to respiratory decline at age 9 months, despite improved motor outcome scores. Conclusions: We describe the first Canadian post-marketing experience with Nusinersen. Timely dissemination of this information is needed to guide clinicians, hospital administrators, and policy-makers.

scholarly journals Arthroscopic fixation of coronoid process fractures through coronoid tunnelling and capsular plication

Joints ◽  
2016 ◽  
Vol 04 (03) ◽  
pp. 153-158 ◽  
Author(s):  
Paolo Arrigoni ◽  
Riccardo D’Ambrosi ◽  
Davide Cucchi ◽  
Simone Nicoletti ◽  
Enrico Guerra
Keyword(s):  
Case Series ◽  
Coronoid Process ◽  
Anatomical Reconstruction ◽  
Type I ◽  
Type Ii ◽  
Joint Stability ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Capsular Plication

Purpose: the purpose of this study is to describe a new arthroscopic technique for reduction and fixation of coronoid process fractures (CPFs) and report clinical and functional results in 4 patients after a 24-month follow-up. Methods: four patients underwent arthroscopic reduction and fixation of isolated CPFs (acute or non-unions, type I or type II according to the Regan-Morrey classification) performed using a new technique based on coronoid tunnelling and capsular plication. The patients were evaluated 6, 12 and 24 months after surgery, using the Disability of the Arm, Shoulder and Hand scale (DASH), the Mayo Elbow Performance Index (MEPI), and a visual analog scale (VAS); elbow range of motion (ROM) and joint stability were also evaluated and the rate of complications was reported. Results: all 4 patients completed the follow-up. At 6, 12 and 24 months, respectively, they recorded mean DASH scores of 22, 14 and 7, mean MEPI scores of 74, 82 and 94, and mean VAS scores of 4, 2 and 1. The mean ROM increased in all directions (at 6, 12 and 24 months, respectively: flexion: 112°, 125°, 144°; extension: 3°, 5°, 6°; pronation: 76°, 84°, 91°; supination: 78°, 82°, 86°). No signs of instability were observed and no complications were reported. Conclusions: the new all-arthroscopic coronoid tunnelling and capsular plication technique here proposed can restore elbow function, ROM and stability and allows anatomical reconstruction of the joint after type I or type II CPFs. if performed by an experienced arthroscopist, it is a valid alternative to open reduction and external fixation. Level of evidence: Level IV, retrospective case series.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

scholarly journals THU0319 DEVELOPMENT AND OUTCOME OF AORTIC COMPLICATIONS DURING TOCILIZUMAB TREATMENT OF GCA AND HISTOPATHOLOGIC EVIDENCE OF RESIDUAL INFLAMMATION-A CASE SERIES.

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 388.2-389
Author(s):  
A. Rubbert-Roth ◽  
P. K. Bode ◽  
T. Langenegger ◽  
C. Pfofe ◽  
T. Neumann ◽  
...  
Keyword(s):  
Structural Changes ◽  
Case Series ◽  
Aortic Aneurysms ◽  
Imaging Data ◽  
Limited Data ◽  
Retrospective Case ◽  
Pet Ct ◽  
Fdg Pet Ct ◽  
Pet Ct Scan

Background:Giant cell arteritis (GCA) may affect the aorta and the large aortic branches and lead to dissections and aortic aneurysms. Tocilizumab (TCZ) treatment has the capacity to control aortic inflammation as has been demonstrated by CRP normalization and imaging data. However, limited data are available on the histopathological findings obtained from patients who underwent surgery because of aortic complications during TCZ treatment.Objectives:We report on 5 patients with aortitis who were treated with TCZ and developed aortic complications.Methods:We describe a retrospective case series of patients with GCA treated with TCZ, who presented in our clinic between 2011 and 2019. Three patients underwent surgery. Histopathologic examination was performed in specimen from all of them.Results:Five female patients were diagnosed with GCA (4/5) or Takaysu arteritis (1/5) involving the aorta, all them diagnosed by MR angiography and/or FDG PET CT scan. Three patients (one with aortic aneurysm, one with dissection) underwent surgery after having been treated with TCZ for seven weeks, nine months and four years, respectively. Imaging before surgery showed remission on MRI and/or PET-CT in all cases. At the time of surgery, all patients showed normalized CRP and ESR values. Histopathological evaluation of the aortic wall revealed infiltrates, consisting predominantly of CD3+CD4+ T cells. Enlargement of pre-existing aneuryms was observed in the other two patients 10 weeks and 4 months after discontinuation of TCZ, respectively. Both patients were not eligible for surgical intervention and died during follow-up.Conclusion:Our case series suggests that during treatment with TCZ, regular imaging is necessary in this patient population to detect development of structural changes such as aneurysms or dissections. Despite treatment, residual inflammation might persist which could contribute to eventual aortic complications.Disclosure of Interests:Andrea Rubbert-Roth Consultant of: Abbvie, BMS, Chugai, Pfizer, Roche, Janssen, Lilly, Sanofi, Amgen, Novartis, Peter Karl Bode: None declared, Thomas Langenegger: None declared, Claudia Pfofe: None declared, Thomas Neumann: None declared, Olaf Chan-Hi Kim: None declared, Johannes von Kempis Consultant of: Roche

scholarly journals Lateral open wedge calcaneus osteotomy with bony allograft augmentation in adult acquired flatfoot deformity. Clinical and radiological results

2021 ◽  
Author(s):  
Gabriele Colo’ ◽  
Mattia Alessio Mazzola ◽  
Giulio Pilone ◽  
Giacomo Dagnino ◽  
Lamberto Felli
Keyword(s):  
Range Of Motion ◽  
Case Series ◽  
Deformity Correction ◽  
Tibialis Posterior ◽  
Open Wedge ◽  
Foot And Ankle ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Adult Acquired Flatfoot Deformity

Abstract The aim of this study is to evaluate the results of patients underwent lateral open wedge calcaneus osteotomy with bony allograft augmentation combined with tibialis posterior and tibialis anterior tenodesis. Twenty-two patients underwent adult-acquired flatfoot deformity were retrospectively evaluated with a minimum 2-year follow-up. Radiographic preoperative and final comparison of tibio-calcaneal angle, talo–first metatarsal and calcaneal pitch angles have been performed. The Visual Analog Scale, American Orthopedic Foot and Ankle Score, the Foot and Ankle Disability Index and the Foot and Ankle Ability Measure were used for subjective and functional assessment. The instrumental range of motion has been also assessed at latest follow-up evaluation and compared with preoperative value. There was a significant improvement of final mean values of clinical scores (p < 0.001). Nineteen out of 22 (86.4%) patients resulted very satisfied or satisfied for the clinical result. There was a significant improvement of the radiographic parameters (p < 0.001). There were no differences between preoperative and final values of range of motion. One failure occurred 7 years after surgery. Adult-acquired flatfoot deformity correction demonstrated good mid-term results and low recurrence and complications rate. Level of evidence Level 4, retrospective case series.

Ultrasound Biomicroscopy Documented Anterior Uveal Melanoma Regression after Ruthenium-106 Plaque Therapy

2021 ◽  
pp. 1-9
Author(s):  
Biljana Kuzmanović Elabjer ◽  
Mladen Bušić ◽  
Andrej Pleše ◽  
Mirjana Bjeloš ◽  
Daliborka Miletić ◽  
...  
Keyword(s):  
Uveal Melanoma ◽  
Tumor Regression ◽  
Corneal Thickness ◽  
Case Series ◽  
Ultrasound Biomicroscopy ◽  
Close Monitoring ◽  
Single Institution ◽  
Retrospective Case ◽  
Caucasian Patients

<b><i>Introduction:</i></b> Ultrasound biomicroscopy (UBM) is the only widely used method for the evaluation of anterior uveal melanoma (AUM). <b><i>Objective:</i></b> Documentation of regression of AUM treated with ruthenium-106 (Ru-106) plaque types CCB and CCC using UBM. <b><i>Methods:</i></b> This single institution-based retrospective case series involved 10 Caucasian patients with AUM followed after brachytherapy with UBM from January 2014 until February 2019. The largest prominence of the tumor perpendicular to the sclera or the cornea (including scleral/corneal thickness) (<i>D</i>) and the largest basal dimension (<i>B</i>) were measured in millimeters with UBM for all patients prior to the brachytherapy and at 4-month interval follow-up. Tumor regression was calculated as a percentage of decrease in the initial <i>D</i> and <i>B</i> values. <b><i>Results:</i></b> The study involved 10 patients with a mean age of 64.4 years (yr) (range 46–80 yr). <i>D</i> ranged from 1.82 to 5.5 mm (median 2.99 mm) and <i>B</i> from 2.32 to 12.38 mm (median 4.18 mm). The apical radiation dose in all patients was 100 Gy. The median follow-up was 42.02 months. Regression for <i>D</i> was 21.11 ± 13.66%, 31.09 ± 14.66%, and 34.92 ± 19.86% at 1st, 2nd, and 3rd year of the follow-up, respectively, while for <i>B</i> it was 21.58 ± 16.05%, 28.98 ± 17.71%, and 32.06 ± 18.96%, respectively. Tumor recurrence was documented in 2/10 patients. <b><i>Conclusion:</i></b> The major regression of AUM, treated with Ru-106 plaque types CCB and CCC, was documented in the first 2 years after brachytherapy in our study group. In the following years, only minimal regression was documented that warns of the need for close monitoring and active search for local recurrences.

Bilateral ocular surface squamous neoplasia: A study of 25 patients and review of literature

2021 ◽  
pp. 112067212110071
Author(s):  
Vijitha S Vempuluru ◽  
Monalisha Pattnaik ◽  
Neha Ghose ◽  
Swathi Kaliki
Keyword(s):  
Risk Factors ◽  
Ocular Surface ◽  
Histopathological Examination ◽  
Topical Steroid ◽  
Case Series ◽  
Intraepithelial Neoplasia ◽  
Excisional Biopsy ◽  
Ocular Surface Squamous Neoplasia ◽  
Retrospective Case

Purpose: To describe the risk factors, clinical presentation, management, and outcomes of patients with bilateral ocular surface squamous neoplasia (OSSN). Methods: Retrospective case series. Results: Of the 25 patients with bilateral OSSN, the mean age at diagnosis of OSSN was 31 years (median, 24 years; range, 2–60 years). Risk factors for bilateral OSSN included xeroderma pigmentosum ( n = 15, 60%), human immunodeficiency virus infection ( n = 3, 12%), conjunctival xerosis ( n = 1, 4%), and topical steroid use ( n = 1, 4%). There were no identifiable ocular or systemic risk factors in 7 (28%) patients. Presentation was synchronous in 14 (56%) and metachronous in 11 (44%) patients. Tumor morphology was bilaterally similar in 12 (48%) patients. Histopathological examination ( n = 36) revealed conjunctival intraepithelial neoplasia (CIN) grade 1 in 4 (8%); grade 2 in 7 (14%); carcinoma in situ in 5 (10%), and invasive carcinoma in 20 (40%). Primary management of OSSN ( n = 49) included excisional biopsy ( n = 31, 62%), topical immunotherapy (IFN α2B) ( n = 11; 22%), topical Mitomycin C (MMC) ( n = 3, 6%), enucleation ( n = 1, 2%), orbital exenteration ( n = 2, 4%), and plaque brachytherapy (PBT) ( n = 1, 2%). One patient was lost to follow-up after detection of tumor in the second eye. Recurrent tumors were noted in 16 (32%) eyes and binocular globe salvage was achieved in 16 (64%) patients at a mean follow up of 41 months (median 30 months; range, 1–164 months). Conclusion: OSSN occurrence can be synchronous or metachronous. Meticulous examination of the fellow eye is important for an early diagnosis of OSSN.

Transmastoid Hydroxyapatite Resurfacing for Sigmoid Sinus Wall Anomalies Causing Pulsatile Tinnitus

2021 ◽  
pp. 000348942098740
Author(s):  
Ian Newberry ◽  
Julie Highland ◽  
Alvin DeTorres ◽  
Richard Gurgel
Keyword(s):  
Case Series ◽  
Sigmoid Sinus ◽  
Pulsatile Tinnitus ◽  
Retrospective Case ◽  
Tertiary Referral Center ◽  
Operative Outcomes ◽  
Sinus Wall ◽  
Objective Tinnitus ◽  
Materials Used

Objective: Comprising 4% of tinnitus, pulsatile tinnitus (PT) can be particularly difficult for affected patients as well as surgeons looking to address their symptoms. Often the cause is not identified but can be secondary to turbulent flow in or near the sigmoid sinus, particularly if there is an identifiable sigmoid sinus dehiscence (SSDe) and/or diverticulum (SSDi). These sigmoid sinus wall anomalies (SSWA) may be treated with transmastoid sigmoid sinus resurfacing; however, this intervention remains relatively novel and its technique, materials used, resolution success, and complications need to be continuously reviewed. Methods: A retrospective case series of patients with PT due to SSWA at a tertiary referral center was reviewed. A total of 6 patients (7 ears) treated by transmastoid resurfacing using hydroxyapatite (HA) were retrospectively assessed. Pre-operative demographics and symptoms, pre- and post-operative hearing results, and post-operative outcomes were reviewed. Results: All patients were female with an average BMI of 32.9 (±5.4) and a mean age of 45.5 years (±15.3). Mean follow-up was 648 days. Objective tinnitus was noted in all ears with SSDi (100%); however, no objective tinnitus was noted with purely SSDe. In 100% of ears, PT was diminished with ipsilateral jugular compression and was amplified with contralateral head turn. Pre-operative symptoms of PT resolved in all patients, but delayed recurrence (>1 year) occurred in 1 ear (14%). No patient had pre- or post-operative hearing loss. No major complications were encountered. Conclusions: Transmastoid resurfacing for SSWA with HA bone cement is a safe, reliable intervention in properly identified PT patients.

Plafond Malreduction and Talar Dome Impaction Accelerates Arthrosis After Supination-Adduction Ankle Fracture

2021 ◽  
pp. 107110072110060
Author(s):  
Michael F. Githens ◽  
Malcolm R. DeBaun ◽  
Kimberly A Jacobsen ◽  
Hunter Ross ◽  
Reza Firoozabadi ◽  
...  
Keyword(s):  
Case Series ◽  
High Energy ◽  
Ankle Fractures ◽  
Posttraumatic Arthritis ◽  
Retrospective Case ◽  
Level Of Evidence ◽  
Radiographic Findings ◽  
Posttraumatic Arthrosis ◽  
Patient Reported

Background: Supination-adduction (SAD) type II ankle fractures can have medial tibial plafond and talar body impaction. Factors associated with the development of posttraumatic arthritis can be intrinsic to the injury pattern or mitigated by the surgeon. We hypothesize that plafond malreducton and talar body impaction is associated with early posttraumatic arthrosis. Methods: A retrospective cohort of skeletally mature patients with SAD ankle fractures at 2 level 1 academic trauma centers who underwent operative fixation were identified. Patients with a minimum of 1-year follow-up were included. The presence of articular impaction identified on CT scan was recorded and the quality of reduction on final intraoperative radiographs was assessed. The primary outcome was radiographic ankle arthrosis (Kellgren-Lawrence 3 or 4), and postoperative complications were documented. Results: A total of 175 SAD ankle fractures were identified during a 10-year period; 79 patients with 1-year follow-up met inclusion criteria. The majority of injuries resulted from a high-energy mechanism. Articular impaction was present in 73% of injuries, and 23% of all patients had radiographic arthrosis (Kellgren-Lawrence 3 or 4) at final follow-up. Articular malreduction, defined by either a gap or step >2 mm, was significantly associated with development of arthrosis. Early treatment failure, infection, and nonunion was rare in this series. Conclusion: Malreduction of articular impaction in SAD ankle fractures is associated with early posttraumatic arthrosis. Recognition and anatomic restoration with stable fixation of articular impaction appears to mitigate risk of posttraumatic arthrosis. Investigations correlating postoperative and long-term radiographic findings to patient-reported outcomes after operative treatment of SAD ankle fractures are warranted. Level of Evidence: Level IV, retrospective case series.

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