Descending thoracic aortic mural ulceration is associated with postoperative spinal cord ischemia after branched endovascular aortic aneurysm repair.

OBJECTIVE: Paraplegia is one of the most feared complications after thoracoabdominal aortic aneurysm repair. The purpose of this study is to determine whether aortic thrombus characteristics are associated with spinal cord ischemia (SCI) after branched endovascular aneurysm repair (BEVAR). METHODS: From April 2011 to April 2020, 62 patients underwent elective BEVAR for thoracoabdominal aortic aneurysm and pararenal aortic aneurysms using a low-profile device and had a complete preoperative computed tomography angiography of the aorta from the sinotubular junction to the aortic bifurcation. Aortic thrombus was evaluated for thrombus thickness ≥5 mm, thrombus >2/3 of aortic circumference, and the presence of an ulcer-like thrombus. One point was assigned at each 5 mm axial image if all 3 criteria were met, resulting in a total "shaggy score" for the entire aorta. Data on demographics, procedural details, and outcomes were collected prospectively. All patients underwent a standard spinal cord protection protocol, including routine cerebrospinal fluid drainage. In July 2016, an insulin infusion protocol (IIP) was initiated to maintain postoperative blood glucose levels <120 mg/dL for 48 hours. The primary clinical end point was postoperative SCI. RESULTS: 10 (16%) patients developed postoperative SCI: 6 with transient paraparesis, 2 with persistent paraparesis, and 2 with persistent paraplegia. Patients with SCI were older, had higher shaggy scores, and were less likely to have been on an IIP. There were no significant differences in demographics, aneurysm type, or operative parameters. In a logistic multivariate regression model for SCI, age (odds ratio [OR]: 1.2 [1.1-1.4], P = .02) and shaggy score (OR: 1.2 [1.1-1.4], P = .02) were independently associated with increased risk of SCI, whereas treatment with the IIP was associated with lower risk of SCI (OR: 0.04 [0.006-0.50], P = .05). Of the individual components of the shaggy score, higher descending thoracic aortic ulcer scores were the most strongly associated with postoperative SCI (P = .009). CONCLUSIONS: Preoperative characterization of aortic wall thrombus is an important adjunctive tool for individualized clinical decision-making and patient counseling about the risk of SCI after BEVAR.

Adjunctive hyperbaric oxygen therapy for spinal cord ischemia after complex aortic repair.

OBJECTIVE: Spinal cord ischemia (SCI) with paraplegia or paraparesis is a devastating complication of complex aortic repair (CAR). Treatment includes cerebrospinal fluid drainage, maintenance of hemoglobin concentration (>10 g/L), and elevating mean arterial blood pressure. Animal and human case series have reported improvements in SCI outcomes with hyperbaric oxygen therapy (HBOT). We reviewed our center's experience with HBOT as a rescue treatment for spinal cord ischemia post-CAR in addition to standard treatment. METHODS: A retrospective review of the University Health Network's Hyperbaric Medicine Unit treatment database identified HBOT sessions for patients with SCI post-CAR between January 2013 and June 2021. Mean estimates of overall motor function scores were determined for postoperative, pre-HBOT, post-HBOT (within 4 hours of the final HBOT session), and at the final assessment (last available in-hospital evaluation) using a linear mixed model. A subgroup analysis compared the mean estimates of overall motor function scores between improvement and non-improvement groups at given timepoints. Improvement of motor function was defined as either a ≥2 point increase in overall muscle function score in patients with paraparesis or an upward change in motor deficit categorization (para/monoplegia, paraparesis, and no deficit). Subgroup analysis was performed by stratifying by improvement or non-improvement of motor function from pre-HBOT to final evaluation. RESULTS: Thirty patients were treated for SCI. Pre-HBOT, the motor deficit categorization was 10 paraplegia, three monoplegia, 16 paraparesis, and one unable to assess. At the final assessment, 14 patients demonstrated variable degrees of motor function improvement; eight patients demonstrated full motor function recovery. Seven of the 10 patients with paraplegia remained paraplegic despite HBOT. The estimated mean of overall muscle function score for pre-HBOT was 16.6 ± 2.9 (95% confidence interval [CI], 10.9-22.3) and for final assessment was 23.4 ± 2.9 (95% CI, 17.7-29.1). The estimated mean difference between pre-HBOT and final assessment overall muscle function score was 6.7 ± 3.1 (95% CI, 0.6-16.1). The estimated mean difference of the overall muscle function score between pre-HBOT and final assessment for the improved group was 16.6 ± 3.5 (95% CI, 7.5-25.7) vs -4.9 ± 4.2 (95% CI, -16.0 to 6.2) for the non-improved group. CONCLUSIONS: HBOT, in addition to standard treatment, may potentially improve recovery in spinal cord function following SCI post-CAR. However, the potential benefits of HBOT are not equally distributed among subgroups.

Minimal clinically important difference (MCID) and minimal detectable change (MDC) of Spinal Cord Ability Ruler (SCAR).

STUDY DESIGN: Retrospective cohort study. OBJECTIVES: To find minimal clinically important difference (MCID) and minimal detectable change (MDC) of Spinal Cord Ability Ruler (SCAR) in Thai participants with spinal cord injury (SCI). SETTING: Rehabilitation ward at Maharaj Nakorn Chiang Mai Hospital. METHODS: Data of individuals with SCI who were not diagnosed with central cord syndrome and were admitted for the first time for rehabilitation were analyzed. Upper extremities motor score, self-care and mobility items of Spinal Cord Independence Measure version III were collected and used to calculate SCAR difference between data on date of admission and discharge. MCID and MDC were calculated by distribution-based method and categorized for each subgroup according to SCI characteristics. RESULTS: From data of 311 individuals, MCID of SCAR is approximately 4 for individual with tetraplegia AIS A, B, C; and individual with AIS D at any level, and 2 for individual with paraplegia AIS A, B, C. MDC of SCAR should be 1 for individual with tetraplegia AIS A, B, C; and individual with AIS D at any level and 0.5 for individual with paraplegia AIS A, B, C. CONCLUSION: This study provides MCID and MDC of SCAR in each subgroup. These values could be used as a benchmark for clinicians and researchers to determine whether participant has significant improvement or not after receiving an intervention.

[A case of spastic paraplegia with SPG4 and SPG3 associated mutations]. / Sluchai spasticheskoi paraplegii s mutatsiyami v genakh dvukh form: SPG4 i SPG3.

A rare case of autosomal dominant spastic paraplegia in a 36-year-old female with two reported earlier mutations of most common spastic paraplegia forms: SPG4 (mutation p.Cys28Leufs*20 in SPAST gene) and SPG3 (mutation p.Val405Met in ATL1 gene) is presented. The mutations detected by massively parallel sequencing (MPS) panel were inherited from affected mother and clinically unaffected father, respectively. The proband, her 61-year-old mother and deceased grandfather had 'uncomplicated' paraplegia with onset in 4th decade. The 67-year-old father had no even minimal subclinical signs of the disease and no affected relatives, detection of his low-penetrating ATL1 mutation was unexpected. MPS methods are the most informative for identifying a patient and/or family members with a combined hereditary neurological pathology, especially a combination of similar forms of heterogeneous groups, such as spastic paraplegia.

Spinal cord ischemia rates and prophylactic spinal drainage in patients treated with fenestrated/branched endovascular repair for thoracoabdominal aneurysms.

OBJECTIVE: Spinal cord ischemia (SCI) is a devastating complication after thoracoabdominal aortic aneurysm (TAAA) repair. The benefit of prophylactic cerebrospinal fluid drainage (pCSFD) to prevent SCI is still under investigation. The aim of this study was to evaluate the SCI rate and the impact of pCSFD following complex endovascular repair (fenestrated or branched endovascular repair [F/BEVAR]) for type I to IV TAAA. METHODS: The STrengthening the Reporting of OBservational studies in Epidemiology (STROBE) statement was followed. A single-center retrospective study was conducted, including all consecutive patients, managed for TAAA type I to IV using F/BEVAR, between January 1, 2018, and November 1, 2022, for degenerative and post-dissection aneurysms. Patients with juxta- or pararenal aneurysms were excluded, as well as cases managed urgently for aortic rupture or acute dissection. After 2020, pCSFD in type I to III TAAAs was abandoned and replaced by therapeutic CSFD (tCSFD), performed only in patients presenting SCI. The primary outcome was the perioperative SCI rate for the entire cohort and the role of pCSFD for type I to III TAAAs. RESULTS: In total, 198 patients were included (mean age, 71.1±3.4 years; 81.8% males), including 50.5% with type I to III TAAA. The primary technical success was 94.9%. The perioperative mortality was 2.5%. and the major adverse cardiovascular event (MACE) rate was 10.6%; 4.5% presented SCI of any type (2.5% paraplegia). When comparing the SCI group with the remaining cohort, patients with SCI presented higher MACE (66.7% vs 7.9%; P < .001) rate and longer intensive care unit stay (3.5 vs 1 day; P = .002). Following type I to III repair, similar SCI, paraplegia, and paraplegia with no recovery rates were reported in the pCSFD and tCSFD groups (7.3% vs 5.1%; P = .66; 4.8% vs 3.3%; P = .72; and 2% vs 0%; P = .37). CONCLUSIONS: The incidence of SCI after TAAA I to IV endovascular repair was low. SCI was associated with significantly increased MACE and intensive care unit stay. The prophylactic use of CSFD in type I to III TAAAs was not associated with lower SCI rates and may not be justified routinely.

Spinal drain-related complications after complex endovascular aortic repair using a prophylactic automated volume-directed drainage protocol.

OBJECTIVE: A common measure to lower the risk for spinal cord ischemia (SCI) during complex endovascular aortic repair (cEVAR) is prophylactic cerebrospinal fluid drainage (CSFD). This method has caused controversy because of drain-related complications. Spinal drains are usually pressure directed. The objective of this study was to evaluate the risk of CSFD-related complications and SCI within the context of an automated volume-directed drain protocol. METHODS: This is a retrospective, single-center study of all cEVARs with CSFD at a tertiary vascular center between January 2014 and December 2020. Demographics, complications, and spinal drain data were recorded. All drainages were volume based using an automatic drainage system (LiquoGuard7; Möller Medical GmbH). Spinal drain complications were categorized as disabling and nondisabling according to the modified Rankin scale. The primary end point was any CSFD-related complication. RESULTS: A total of 448 cEVAR patients were identified, of whom 147 (32.8%) had prophylactic CSFD. The mean age was 69 years (63% male). The most common pathology (61%) was thoracoabdominal aortic aneurysm, and the most common procedure was branched EVAR (55.1%). Eighteen (12.2%) patients developed a CSFD-related complication, whereof three (2%) were disabling. Nineteen (13%) patients developed SCI: 12 (8.4%) paraparetic, 5 (3.4%) paraplegic, and 2 (1.4%) paresthesias. Of these, 13 (68%) had full reversal of symptoms, whereas 6 patients (4%) had residual symptoms and were deemed disabling. Drain-related complications were more common in patients with SCI (31.6%) compared with those without (9.4%, P = .014). In the latter group, only two patients (1.6%) developed a disabling drain-related complication. CONCLUSIONS: Selective use of prophylactic, automated volume-directed CSFD in patients at high risk for SCI was associated with a high incidence of complications and should be used with caution. Among those developing SCI, reversal was achieved frequently with increased CSFD volume, but at the price of more bleeding complications.

Validity and reliability of the 2-minute walk test in individuals with spinal cord injury.

STUDY DESIGN: Multicentre-observational study. OBJECTIVES: The 6-minute walk test (6mWT) is an established assessment of walking function in individuals with spinal cord injury (SCI). However, walking 6 min can be demanding for severely impaired individuals. The 2-minute walk test (2mWT) could be an appropriate alternative that has already been validated in other neurological disorders. The aim of this study was to assess construct validity and test-rest reliability of the 2mWT in individuals with SCI. In addition, the influence of walking performance on sensitivity to change of the 2mWT was assessed. SETTING: Swiss Paraplegic Center Nottwil, Switzerland; Balgrist University Hospital, Zürich, Switzerland. METHODS: Fifty individuals (aged 18-79) with SCI (neurological level of injury: C1-L3, AIS: A-D) were assessed on two test days separated by 1 to 7 days. The first assessment consisted of a 2mWT familiarization, followed by a 2mWT and 10-meter walk test (10MWT) (including the Walking Index for Spinal Cord Injury (WISCI II)) in randomized order. The second assessment consisted of 2mWT and 6mWT in randomized order. Tests were separated by at least 30 min of rest. RESULTS: The interclass correlation coefficient between the 2mWT assessed on the first and second test day was excellent (r = 0.980, p < 0.001). The 2mWT correlated very strongly with the 6mWT (r = 0.992, p < 0.001) and the 10MWT (r = 0.964, p < 0.001), and moderately with the WISCI II (r = 0.571, p < 0.001). Sensitivity to change was slightly affected by walking performance. CONCLUSION: The 2mWT is a valid and reliable alternative to the 6mWT to measure walking function in individuals with SCI. TRIAL REGISTRATION: NCT04555759.

Kjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.

Kjellin's syndrome is a rare autosomal recessive hereditary neuro-ophthalmologic syndrome. The diagnosis of Kjellin's syndrome is based on the retinal appearance in a patient with spastic paraplegia, learning difficulties, amyotrophy and thin corpus callosum. We present the case of a 42-years-old man without visual symptoms, referred to study from the Neurology Service due to a degenerative condition. On ophthalmologic examination is found a multifocal pattern dystrophy simulating fundus flavimaculatus and a delay in the visual evoked potential responses. The performed tests are reviewed and a genetic analysis for subtypes 11 and 15 of hereditary spastic paraplegia are requested. These subtypes are associated with macular changes. A pathogenic variant in the SPG 11 gene is identified, which explains the patient's clinical manifestations. Ophthalmological findings were key in the diagnosis of this rare syndrome.

Extensive Spinal Epidural Abscess Resulting in Complete Paraplegia Treated by Selective Laminectomies and Irrigation.

BACKGROUND: Spinal epidural abscess (SEA) is an uncommon clinical entity that is often subject to delayed diagnosis and suboptimal treatment. Untreated disease leads to compression of the spinal cord, resulting in devastating complications. CASE PRESENTATION: A 56-year-old man visited our hospital for progressive lower back and lower extremity pain of several days' duration. Significant pyrexia (39.5°C) and elevated C-reactive protein (89.2 mg/L) were detected during admission, but no positive neurological examination findings were observed. Magnetic resonance imaging revealed pyogenic discitis at L3-4. Despite the administration of directed antibiotic therapy, the patient's condition rapidly deteriorated, culminating in complete paraplegia secondary to an extensive SEA from L4 to C7. Emergency spinal decompression surgery was canceled due to his poor clinical condition and refusal of informed consent. After further deterioration, he consented to two-level selective laminectomies and irrigation. CONCLUSIONS: In contrast with prior case reports, this case illustrates the natural history of an extensive SEA during conservative and late surgical treatment. Early diagnosis and timely surgical decompression are of great importance for extensive SEA.

Clinical and molecular characterization of hereditary spastic paraplegia in a spanish Southern region.

INTRODUCTION: Spastic paraplegia (SPG) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations. Despite of the new molecular technologies, many patients remain yet undiagnosed. OBJECTIVE: The purpose of this study was to describe the clinical presentation and molecular characteristics of a cohort of 27 patients from 18 different families with SPG in the south of Spain. METHODS: We used a targeted next-generation sequencing (NGS) approach to study a proband from each family. RESULTS: Variants in SPG11 gene were the most common cause of SPG in our area. We made a genetic diagnosis in 52% of cases, identified 3 novel variants and reclassified one uncertain variant in SPG11 gene as pathogenic variant. We identified a patient with two truncanting mutations in SPG11 gene and late onset disease and report another missense mutation outside of motor domain of KIF1A gene in a family with pure SPG. CONCLUSION: Our study contributes to enhance the scientific knowledge of SPG. It is important to note the large group of cases (48%) that were not genetically diagnosed in our cohort. Therefore NGS approach is an efficient diagnostic tool, but it still large the number of non-diagnosed subjects, suggesting further genetic heterogeneity.

A case of paraplegia due to asymptomatic varicella-zoster virus infection in AIDS patient unexpectedly diagnosed by CSF metagenomic next-generation sequencing.

BACKGROUND: Varicella-zoster virus (VZV) infection may induce central nervous system complications in HIV/AIDS patients. However, it is rare to have paraplegia caused by VZV infection but no herpes zoster clinically. Asymptomatic VZV infection in HIV/AIDS patient increased the difficulty of diagnosis. CASE PRESENTATION: We reported a 41-year-old male AIDS patient with rare asymptomatic VZV infection-induced paraplegia after his anti-retroviral therapy initiation. MRI of the spinal cord showed the morphology of the thoracic spinal cord was irregular and locally inflated. The patient was confirmed as VZV induced thoracic myelomyelitis by using the cerebrospinal fluid for metagenomic next-generation sequencing (mNGS). CONCLUSIONS: mNGS may contribute to disease diagnosis for asymptomatic VZV infection-induced myelitis.

[The paraplegic patient-Characteristics of diagnostics and treatment in visceral surgery]. / Der querschnittgelähmte Patient ­ Besonderheiten der viszeralchirurgischen Diagnostik und Therapie.

BACKGROUND: Patients with paraplegia develop syndrome-specific complications relevant to visceral surgery, which occur in the context of the acute spinal shock or as a consequence of the progressive neurogenic bowel dysfunction (NBD) with the formation of an elongated colon and/or megacolon. Moreover, acute abdominal emergencies, such as acute appendicitis, cholecystitis, diverticulitis and ileus images, pose particular challenges for the clinician when the clinical signs are atypical or even absent. The expansion of indications for obesity surgery to include patients with a paraplegic syndrome, whose independence and quality of life can be impaired due to the restricted mobility, especially by obesity, is becoming increasingly more important. OBJECTIVE: This article provides an overview of the special requirements and aspects in the treatment of this special patient collective and to show the evidence of paraplegia-specific visceral surgery treatment. MATERIAL AND METHODS: Targeted literature search in Medline and Cochrane library (German and English, 1985-2020). RESULTS AND CONCLUSION: The clinical treatment of paraplegic patients requires in-depth knowledge of the pathophysiological changes at the different height of the paraplegia (upper versus lower motor neuron) and the phase of the disease (spinal shock versus long-term course). Missing or atypical clinical symptoms of acute diseases delay a quick diagnosis and make early diagnosis essential. The evidence for surgical treatment of the acute and chronic consequences of NBD is based on small retrospective series and case reports, as is that for special indications such as obesity surgery.

Early surgical intervention for active thoracic spinal tuberculosis patients with paraparesis and paraplegia.

BACKGROUND: To explore the therapeutic effect of early surgical intervention for active thoracic spinal tuberculosis (TB) patients with paraparesis and paraplegia. METHODS: Data on 118 active thoracic spinal TB patients with paraparesis and paraplegia who had undergone surgery at an early stage (within three weeks of paraparesis and paraplegia) from January 2008 to December 2014 were retrospectively analyzed. The operation duration, blood loss, perioperative complication rate, VAS score, ASIA grade and NASCIS score of neurological status rating, Erythrocyte Sedimentation Rate (ESR), C-reactive protein (CRP), kyphotic Cobb's angle, and duration of bone graft fusion were analyzed to evaluate the therapeutic effects of surgery. RESULTS: The mean operating time was 194.2 minutes, and the mean blood loss was 871.2 ml. The perioperative complication rate was 5.9 %. The mean preoperative VAS score was 5.3, which significantly decreased to 3.2 after the operation and continued decreasing to 1.1 at follow up (P<0.05). All cases achieved an increase of at least one ASIA grade after operation. The rate of full neurological recovery for paraplegia (ASIA grade A and B) was 18.0 % and was significantly lower than the rate (100 %) for paraparesis (ASIA grade C and D) (P<0.05). On the NASCIS scale, the difference in the neurological improvement rate between paraplegia (22.2 % ± 14.1 % in sensation and 52.2 % ± 25.8 % in movement) and paraparesis (26.7 % ± 7.5 % in sensation and 59.4 % ± 7.3 % in movement) was remarkable (P<0.05). Mean preoperative ESR and CRP were 73.1 mm /h and 82.4 mg/L, respectively, which showed a significant increase after operation (P>0.05), then gradually decreased to 11.5 ± 1.8 mm/h and 2.6 ± 0.82 mg/L, respectively, at final follow up (P<0.05). The mean preoperative kyphotic Cobb's angle was 21.9º, which significantly decreased to 6.5º after operation (P<0.05) while kyphotic correction was not lost during follow up (P>0.05). The mean duration of bone graft fusion was 8.6 ± 1.3 months. CONCLUSIONS: Early surgical intervention may be beneficial for active thoracic spinal TB patients with paraparesis and paraplegia, with surgical intervention being more beneficial for recovery from paraparesis than paraplegia.

Outcomes and prognostic indicators in 59 paraplegic medium to large breed dogs with extensive epidural hemorrhage secondary to thoracolumbar disc extrusion.

OBJECTIVE: To evaluate outcomes and prognostic factors after decompressive hemilaminectomy in paraplegic medium to large breed dogs with extensive epidural hemorrhage (DEEH) and thoracolumbar intervertebral disc extrusion (TL-IVDE). STUDY DESIGN: Retrospective, cohort, descriptive study. ANIMALS: Fifty-nine client-owned dogs. METHODS: Medical records and advanced imaging were reviewed for paraplegic dogs with DEEH. Ambulatory status 6 months after surgery and postoperative complications were recorded. Multiple logistic regression models were constructed to explore prognostic factors. RESULTS: Records of 22 dogs with and 37 dogs without pelvic limb pain perception at presentation were included. Median age of dogs was 5 years (interquartile range, 4-7), and mean weight was 26.9 kg (SD, ±9.71). Labradors and Labrador mixes were most common (17/59 [28.8%]). Recovery of ambulation occurred in 17 of 22 (77.3%) dogs with and in 14 of 37 (37.8%) dogs without pain perception prior to surgery. Progressive myelomalacia was recorded in three of 59 (5.1%) dogs, one with pain perception and two without pain perception at presentation. Postoperative complications (14/59 [23.7%]) were common. Factors independently associated with outcome included clinical severity (odds ratio [OR] 0.179, P = .005), number of vertebrae with signal interruption in half Fourier single-shot turbo spin-echo sequences (HASTEi; OR, 0.738; P = .035), and ratio of vertebral sites decompressed to HASTEi (OR, 53.79; P = .03). CONCLUSION: Paraplegic medium to large breed dogs with DEEH have a less favorable outcome after surgical decompression than paraplegic dogs with TL-IVDE. CLINICAL SIGNIFICANCE: Dogs with DEEH can have severe postoperative complications. Loss of pain perception and increased HASTEi are associated with a poor outcome, while more extensive decompression improves outcome.

Effect of the urgency and landing zone on rates of in-hospital death, stroke, and paraplegia after thoracic endovascular aortic repair in Japan.

OBJECTIVE: The present study used data from the Japanese Committee for Stentgraft Management's national registry, which contains unique surgical data, including surgical timing, anatomic factors, and pathologic factors, to determine the generalized community experience with thoracic endovascular abdominal aortic repair (TEVAR). METHODS: The medical background and short-term outcomes were reviewed for patients who had undergone TEVAR for a thoracic aortic aneurysm (TAA; 14,235 cases) or aortic dissection (AD; 990 type A and 4259 type B) from 2008 to 2015. TEVAR for AD was separated from that for TAAs; only the background and short-term outcomes were evaluated. The technical outcomes of TEVAR for TAA were also evaluated. All the cases were categorized as follows: elective, urgent (within 24 hours after admission), or emergent (immediately after admission). The outcomes included in-hospital mortality and persistent stroke and paraplegia diagnosed at discharge. The number of debranching bypasses, proximal landing zone (0, 1, 2, ≥3), and zone length were included in the logistic regression analysis. RESULTS: The mortality, stroke, and paraplegia rates in the TAA and AD groups were 4.4%, 4.6%, and 3.7% and 4.0%, 2.9%, and 2.8%, respectively. After analyzing the TAA cohort, we found that urgent and emergent cases were associated with all adverse outcomes. The rate of paraplegia increased drastically in the patients with stent graft coverage that extended for six or more zones. Massive atheroma was associated with stroke and paraplegia. The cumulative survival rate of the TAA group was stratified by the urgency (ie, elective, urgent, emergent; P < .001). We found that the more proximal (0, 1, and 2) the landing zone, the greater the risk of stroke. Likewise, the longer (six or more zones) the coverage, the greater the risk of paraplegia. CONCLUSIONS: Urgency was strongly associated with mortality, stroke, and paraplegia, and the classification of urgent and emergent, according to the surgical timing after admission, successfully stratified the population in the long-term overall survival analysis. A proximal landing zone involving the aortic arch and debranching bypasses were associated with the occurrence of stroke, and the length of stent graft coverage for six or more zones was associated with paraplegia. Identifying these risk factors will help operators of TEVAR develop appropriate operative strategies to mitigate patient risk.

Preimplantation Genetic Testing for Spastic Paraplegia Type 3.

INTRODUCTION: Spastic paraplegia type 3 (SPG3) is a common autosomal dominant neurogenetic disease, presenting during childhood with symptoms of mildly progressive spasticity and weakness of the lower limbs. SPG3 develops due to mutations of the ATL1 gene that encodes atlastin-1, a GTPase crucial for the function of dendrites of corticospinal neurons. Here we present a case of preimplantation genetic testing for SPG3. PATIENT AND METHODS: A 30-year-old woman with clinical symptoms of autosomal dominant spastic paraplegia since her first year of life asked for genetic counselling. DNA sequencing revealed the existence of mutation c.715C>T (p. R239C) in the ATL1 gene, confirming the diagnosis of SPG3. The patient asked for preimplantation testing for SPG3 after in vitro fertilization. An allele-specific method of PCR amplification was created in order to distinguish the mutant and the normal allele in the patient and her mother who also had SPG3, while her normal father served as control. The same nested PCR approach was used for the preimplantation testing of 11 available embryos. RESULTS: The presence of the c.715C>T (p. R239C) mutation in the ATL1 gene was found in five embryos while six embryos carried normal alleles and were selected for IVF implantation. After three failed gestation attempts and one pregnancy ended by a spontaneous miscarriage in the first trimester due to a chromosomal abnormality, there was an achieved pregnancy with a totally normal embryo. CONCLUSION: SPG3 may be degrading to a patient's quality of life; therefore, appropriate genetic counselling and preimplantation molecular testing may be provided as an option of prevention in offspring.