Training in vascular trauma surgery for non-vascular surgeons: Vascular trauma surgery skills course.

Background: The experience of general and trauma surgeons in vascular trauma management has decreased with sub-specialization of surgery and working hours restrictions. We introduce a vascular trauma surgery skills course established to train German military surgeons prior to their deployment to conflict areas. Methods: The intention and implementation of the vascular trauma course for non-vascular surgeons is described in detail. Results: In hands-on courses, participants learn and train basic vascular surgical techniques on more realistic extremity, neck, and abdominal models with pulsatile vessels. A fundamental and an advanced course each provide military as well as civilian surgeons from different non-vascular specialties with a surgical skill set including direct vessel sutures, patch angioplasty, anastomosis, thrombectomy, and resuscitative endovascular balloon occlusion of the aorta (REBOA) in order to render them capable of managing major vascular injuries. Conclusion: The experiences of this vascular trauma surgical skills course, initially established for military surgeons, can also be of use to all civilian general, visceral, and trauma surgeons occasionally facing traumatic or iatrogenic vascular injuries. Thus, the introduced vascular trauma course is valuable for all surgeons working in trauma centers.

[The marginal vein-Still a rare entity: case series of 16 patients]. / Die Marginalvene ­ nach wie vor eine seltene Entität: Fallserie von 16 Patienten.

BACKGROUND: The marginal vein (MV) is a congenital, predominantly venous vascular malformation, which is based on a lack of regression of the embryonic venous system in the lower extremities and is associated with a variety of complications. So far, no uniform treatment regimens have been described in the literature. OBJECTIVE: What are the treatment strategies and outcomes in patients with a MV? MATERIAL AND METHODS: In the period from 1 January 2008 to 31 December 2020, all patients treated at the University Hospital Augsburg with MV were retrospectively reviewed. RESULTS: The median age at the time of diagnosis was 14.8 years (3-42 years). Out of 16 patients 12 had a leg length difference, 75% of patients (12/16) already had chronic venous insufficiency (CVI) at the time of diagnosis of MV. Open surgical removal of MV was performed as first-line treatment in 31.3% (5/16) patients. The MV was primarily closed by endovenous laser therapy (EVLT) in 1/16 patients, 15/16 patients were treated with redo procedures and 2.6 ± 2.4 (mean±SD) redo procedures were performed per patient in follow-up. The mean follow-up was 8.1 years. DISCUSSION: In order to prevent/avoid progression of CVI and thrombosis prophylaxis, the MV should be closed/removed promptly after diagnosis. The use of conventional surgical techniques for the removal of MV seems to have an advantage over treatment with minimally invasive procedures in terms of the number of secondary interventions required.

[Resource requirements in the surgical treatment of COVID­19 patients at a university clinic of maximum care]. / Ressourcenbedarf bei der chirurgischen Behandlung von COVID­19-Patienten in der universitären Maximalversorgung.

BACKGROUND: Surgical procedures in patients suffering from coronavirus disease 2019 (COVID­19) are possible under strict hygiene and protective measures and are currently carried out regularly. This study examined how much additional work this involves. MATERIAL AND METHODS: A structured evaluation of 71 surgical procedures performed at the Augsburg University Hospital between 1 November 2020 until 31 December 2020 was carried out. The operations on COVID­19 patients were compared to procedures on non-COVID­19 patients with respect to temporal, structural and staff resources, exemplified by four interventions: transbrachial embolectomy, total hip arthroplasty (H-TEP), proximal femoral nail antirotation (PFN-A) and new implantations of cardiac pacemakers. RESULTS: The incision to suture times between the interventions in patients with COVID­19 and non-COVID­19 patients did not show any significant differences in any of the four interventions evaluated. The postoperative monitoring in the operating room, which is identified as time-consuming in many interventions, was often circumvented by postoperative transfer to the intensive care unit or by the use of local anesthetic procedures. For major operations, such as H­TEP, the preparation time was shown to be significantly longer (p = 0.037). Furthermore, there was a significantly higher requirement for anesthesia nursing personnel of 1.5 vs. 1.0 (p = 0.02). CONCLUSION: A quantification of the additional effort of operative treatment is difficult due to the already complex care of COVID­19 patients; however, it can be assumed that there is an increased need for additional human and structural resources due to the supply of material from outside the operating room, which is not documented in the standard recording.

Prognostic value of longitudinal strain and ejection fraction in Friedreich's ataxia.

BACKGROUND: Friedreich's ataxia (FA) is a rare autosomal recessive mitochondrial disease most commonly due to a triplet repeat expansion guanine-adenine-adenine (GAA) in the FXN gene. Cardiac disease is the major cause of death, patients with reduced left ventricular ejection fraction (LVEF) having the worse prognosis. Longitudinal strain (LS) appeared to be a better predictor of outcome than LVEF in different diseases. We compared the prognostic value of LS measured from the 4 chambers view to LVEF. METHODS: From 2003 to 2017 consecutive patients with FA were included and LS analysis was retrospectively performed. RESULTS: We studied 140 patients, with a median age of 34 (26-41) years (Q1-Q3) with age at onset of 14 (11-19) years and GAA repeats on the shorter allele of 600 (467-783) pb. Mean LS was 19.9 ± 5.0% and LVEF 64 ± 8%. After a mean follow-up of 7.4 ± 3.9 years, 14 patients died. In univariate Cox analysis, all-cause mortality was associated with: LS (HR 0.83; 95%CI, 0.75-0.91, p = 0.0002), LVEF (HR 0.30; 95%CI, 0.19-0.49, p < 0.0001), GAA repeats on the shorter allele (HR 1.29; 95%CI, 1.10-1.51, p = 0.002), age at onset (HR 0.87; 95%CI, 0.77-0.98, p = 0.018), LVSystolic Diameter (HR 1.17; 95%CI, 1.09-1.26, p < 0.0001), LVMass index (HR 1.02; 95%CI, 1.00-1.04, p = 0.027), and LVDiastolic Diameter (HR1.12; 95%CI, 1.01-1.23, p = 0.028). In multivariate analysis, LVEF was the only independent predictor of mortality (HR 0.41; 95%CI, 0.23-0.74, p = 0.0029). CONCLUSION: In FA, LS was not an independent predictor of mortality, LVEF remained the only independent predictor in the present study.

[Treatment strategies and outcomes for injection-associated inguinal perivascular abscesses in intravenous drug addicts]. / Behandlungsstrategien und Ergebnisse bei injektionsassoziierten inguinalen perivaskulären Abszessen bei intravenös Drogenabhängigen.

BACKGROUND: Long-term drug users regularly present with deep inguinal vascular-associated abscesses due to continued drug injections utilizing superficial veins. The treatment of these complications continues to be a major medical challenge. So far no uniform treatment regimens have been described in the literature. OBJECTIVE: What are the treatment strategies and outcomes of injection-associated inguinal perivascular abscesses in drug addicts? MATERIAL AND METHODS: All drug users treated at the Augsburg University Hospital in the period between 1 January 2004 and 31 May 2019 were retrospectively reviewed and compared with the currently available literature. RESULTS: In this study 37 cases (male = 25, female = 12) could be included in the data collection after implementation of the inclusion criteria. The median age in the investigated patient population was 34.3 years. The 30-day mortality was 2.7% (1/37). The amputation rate was 2.8%. In the investigated collective 13 patients had arterial involvement, in 5 cases a ligature of arteries was primarily used and in another 5 cases a reconstruction using an autologous conduit graft was primarily performed. In another 3 cases an obturator bypass (1/3) was placed and a patch plasty (2/3). The patency rate after arterial reconstruction was 87.5% with a mean follow-up of 421 days. The overall complication rate was 51.4%. CONCLUSION: For vascular involvement an approach appropriate for the situation is meaningful. In addition to the elimination of complicated septic venous thromboses, the correction of arterial hemorrhages using autologous reconstruction measures seems promising.

Apathy predicts rate of cognitive decline over 24 months in premanifest Huntington's disease.

BACKGROUND: Cognitive impairment is a core feature of Huntington's disease (HD), however, the onset and rate of cognitive decline is highly variable. Apathy is the most common neuropsychiatric symptom of HD, and is associated with cognitive impairment. The aim of this study was to investigate apathy as a predictor of subsequent cognitive decline over 2 years in premanifest and early HD, using a prospective, longitudinal design. METHODS: A total of 118 premanifest HD gene carriers, 111 early HD and 118 healthy control participants from the multi-centre TRACK-HD study were included. Apathy symptoms were assessed at baseline using the apathy severity rating from the Short Problem Behaviours Assessment. A composite of 12 outcome measures from nine cognitive tasks was used to assess cognitive function at baseline and after 24 months. RESULTS: In the premanifest group, after controlling for age, depression and motor signs, more apathy symptoms predicted faster cognitive decline over 2 years. In contrast, in the early HD group, more motor signs, but not apathy, predicted faster subsequent cognitive decline. In the control group, only older age predicted cognitive decline. CONCLUSIONS: Our findings indicate that in premanifest HD, apathy is a harbinger for cognitive decline. In contrast, after motor onset, in early diagnosed HD, motor symptom severity more strongly predicts the rate of cognitive decline.

Clinical and genetic update of hereditary spastic paraparesis.

Hereditary spastic paraparesis is a group of inherited neurological diseases characterized by underlying wide genetic heterogeneity. It should be suspected if there is a positive familial history, a common genetic alteration (i.e. SPG4, the most overall frequent form), or association with other signs, such as cerebellar ataxia (i.e. SPG7), early cognitive impairment or even cognitive deficit (i.e. SPG11), or peripheral neuropathy (i.e. SACS). The natural history is known for certain genetic subgroups, with genotype-phenotype correlations partially explaining childhood or late onset. However, the search for genetic modifying factors, in addition to the causal pathogenic variant or environmental influencers, is still needed. Novel approaches to provide etiological treatment are in the pipeline for SPG11. Symptomatic treatments are available but would benefit from randomized controlled trials.

Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56.

PURPOSE: Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABCC6, as illustrated in a large French PXE series of 220 cases. We searched for new PXE gene(s) to solve the ABCC6-negative patients. METHODS: First, family-based exome sequencing was performed, in one ABCC6-negative PXE patient with additional neurological features, and her relatives. CYP2U1, involved in hereditary spastic paraplegia type 56 (SPG56), was selected based on this complex phenotype, and the presence of two candidate variants. Second, CYP2U1 sequencing was performed in a retrospective series of 46 additional ABCC6-negative PXE probands. Third, six additional SPG56 patients were evaluated for PXE skin and eye phenotype. Additionally, plasma pyrophosphate dosage and functional analyses were performed in some of these patients. RESULTS: 6.4% of ABCC6-negative PXE patients (n = 3) harboured biallelic pathogenic variants in CYP2U1. PXE skin lesions with histological confirmation, eye lesions including maculopathy or angioid streaks, and various neurological symptoms were present. CYP2U1 missense variants were confirmed to impair protein function. Plasma pyrophosphate levels were normal. Two SPG56 patients (33%) presented some phenotypic overlap with PXE. CONCLUSION: CYP2U1 pathogenic variants are found in unsolved PXE patients with neurological findings, including spastic paraplegia, expanding the SPG56 phenotype and highlighting its overlap with PXE. The pathophysiology of ABCC6 and CYP2U1 should be explored to explain their respective role and potential interaction in ectopic mineralization.

[COVID-19 infection-Risk of thromboembolic complications]. / COVID-19-Infektion ­ Risiko für thrombembolische Komplikationen.

While the COVID-19 syndrome triggered by the SARS CoV­2 was initially seen predominantly as a pulmonary disease, the number of reports of vascular complications has recently increased. The aim of the present review article is to summarize the most relevant vascular complications in COVID-19 patients. These include venous and arterial thromboembolic events as well as local thromboses, which can form directly on the endothelium at the site of cytokine release. A generalized coagulopathy also appears to promote this thrombogenic condition. With a rate of approximately 20%, deep vein thrombosis (DVT) of the leg is one of the most common thromboembolic events in COVID-19 patients requiring intensive care treatment. In addition, arterial events, such as stroke or acute coronary syndrome were also observed in COVID-19 patients with pre-existing vascular disease. Children rarely have vascular complications, but a systemic immune response similar to the Kawasaki syndrome and toxic shock syndrome has been reported. According to current data, the risk of thromboembolic events in hospitalized COVID-19 patients is significantly increased, making thrombosis prophylaxis with low molecular weight or unfractionated heparin necessary. If pharmaceutical thrombosis prophylaxis is contraindicated, intermittent pneumatic compression should be used. In addition, in patients admitted to the hospital with suspected or proven SARS-CoV­2 infection, the determination of D­dimers and, in the case of positive results, broad indication for compression sonography of the deep leg veins are recommended. This allows to detect and treat DVT at an early stage. The treatment of thromboses should be carried out according to current guidelines with therapeutic anticoagulation. Further studies and registries are needed to improve the understanding of the relationship between COVID-19 infection and the occurrence of thromboembolic events.

[Increased risk of deep vein thrombosis in intensive care unit patients with CoViD-19 infections?-Preliminary data]. / Erhöhtes Risiko für tiefe Beinvenenthrombosen bei Intensivpatienten mit CoViD-19-Infektion? ­ Erste Daten.

BACKGROUND: The incidence of deep vein thrombosis (DVT) in CoViD-19 patients in intensive care units (ICU) has so far been investigated in only a few studies. Prospective comparative studies with non-CoViD-19 ICU patients are completely lacking. OBJECTIVE: Evaluation of the incidence of DVT in ICU patients with CoViD-19 compared to non-CoViD-19 ICU patients who were treated in the University Hospital Augsburg during the same period. In addition, the aim was to investigate what type of anticoagulation was present in CoViD-19 patients at the time the DVT occurred and to what extent DVT is associated with increased mortality in this patient population. MATERIAL AND METHODS: In this prospective single center study, which was conducted between 18 April 2020 and 30 April 2020, 20 SARS-CoV2 positive patients were compared with 20 non-CoVid-19 patients in the ICU with respect to the occurrence of DVT. For this purpose, demographic data, laboratory parameters, and clinical outcomes were recorded and evaluated. RESULTS: The rate of DVT in the investigated patient collective was markedly higher in patients with SARS-CoV2 (CoViD-19 patients 20% vs. non-CoViD-19 patients 5%). Both DVT and elevated D­dimer levels were associated with increased mortality in the present study. CONCLUSION: We recommend the determination of D­dimer levels and, in the case of elevated levels, the broad indication for compression sonography of the deep leg veins on admission of patients with suspected or confirmed SARS-CoV2. In this way DVT in the setting of CoViD-19 can be recognized early and therapeutic anticoagulation can be started. All inpatient CoViD-19 patients should receive thrombosis prophylaxis with low molecular weight heparin. Further studies on point of care methods (TEG®, ROTEM®) for the detection of hypercoagulability in SARS-CoV2 are necessary.

Deciphering the natural history of SCA7 in children.

BACKGROUND AND PURPOSE: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history. METHODS: We collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG. RESULTS: We identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death. CONCLUSION: SCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.

Implementation of the North Carolina HIV Bridge Counseling Program to Facilitate Linkage and Reengagement in Care for Individuals Infected with HIV/AIDS.

BACKGROUND Statewide interventions are critical to meeting the goals of the National HIV/AIDS Strategy in this country. In 2012, the North Carolina Division of Public Health developed the North Carolina State Bridge Counselor program to improve linkage to and reengagement in care for newly diagnosed persons and persons living with HIV who were out-of-care.METHODS We reviewed the planning process for the North Carolina State Bridge Counselor program, which involved a review of existing strengths-based counseling models for persons living with HIV, implementation of these models, and communication strategies with other providers. State bridge counselor responsibilities were delineated from the role of disease intervention specialists while retaining the fieldwork capability of disease intervention specialists to conduct outreach and provide services for persons living with HIV throughout the state.RESULTS Program implementation required extensive planning with stakeholders, incorporation of strengths-based counseling models, development of performance standards, and utilization of CAREWare, an HIV care software program to document referrals and data-sharing between state bridge counselors and clinics. By the end of 2014, state bridge counselor services were provided to approximately 60 of the 400 persons living with HIV (15%) who are diagnosed each quarter in North Carolina, with increasing utilization of the program.LIMITATIONS We assessed the development of this intervention specific to the North Carolina Division of Public Health, which may limit its generalizability. However, the State Bridge Counselor program was implemented in both urban and rural areas throughout the state, which increases its applicability to different public health programs throughout the country.CONCLUSION We demonstrated that a statewide State Bridge Counselor program for linkage and reengagement activities can be implemented by leveraging existing infrastructures, electronic medical records, HIV care networks, and fieldwork activities.

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.

Whether the recessive ataxias, Ataxia with oculomotor apraxia type 1 (AOA1) and 2 (AOA2) and Ataxia telangiectasia (AT), can be distinguished by video-oculography and alpha-fetoprotein level remains unknown. We compared 40 patients with AOA1, AOA2 and AT, consecutively referred between 2008 and 2015 with 17 healthy subjects. Video-oculography revealed constant impairments in patients such as cerebellar signs, altered fixation, impaired pursuit, hypometric saccades and abnormal antisaccades. Horizontal saccade latencies could be highly increased reflecting oculomotor apraxia in one third of patients. Specific distinctive alpha-fetoprotein thresholds were determined for AOA1 (7-15 µg/L), AOA2 (15-65 µg/L) and AT (>65 µg/L). Early age onset, severe walking disability, movement disorders, sensori-motor neuropathy and cerebellar atrophy were all shared. In conclusion, alpha-fetoprotein level seems to permit a distinction while video-oculography does not and therefore is not mandatory, even if an appropriate oculomotor examination remains crucial. Our findings are that AOA1, AOA2 and AT form a particular group characterized by ataxia with complex oculomotor disturbances and elevated AFP for which the final diagnosis is relying on genetic analysis. These findings could guide genetic analysis, assist reverse-phenotyping and provide background for the interpretation of the numerous variants of unknown significance provided by next-generation sequencing.

The reliability of commonly used electrophysiology measures.

BACKGROUND: Electrophysiological measures can help understand brain function both in healthy individuals and in the context of a disease. Given the amount of information that can be extracted from these measures and their frequent use, it is essential to know more about their inherent reliability. OBJECTIVE/HYPOTHESIS: To understand the reliability of electrophysiology measures in healthy individuals. We hypothesized that measures of threshold and latency would be the most reliable and least susceptible to methodological differences between study sites. METHODS: Somatosensory evoked potentials from 112 control participants; long-latency reflexes, transcranial magnetic stimulation with resting and active motor thresholds, motor evoked potential latencies, input/output curves, and short-latency sensory afferent inhibition and facilitation from 84 controls were collected at 3 visits over 24 months at 4 Track-On HD study sites. Reliability was assessed using intra-class correlation coefficients for absolute agreement, and the effects of reliability on statistical power are demonstrated for different sample sizes and study designs. RESULTS: Measures quantifying latencies, thresholds, and evoked responses at high stimulator intensities had the highest reliability, and required the smallest sample sizes to adequately power a study. Very few between-site differences were detected. CONCLUSIONS: Reliability and susceptibility to between-site differences should be evaluated for electrophysiological measures before including them in study designs. Levels of reliability vary substantially across electrophysiological measures, though there are few between-site differences. To address this, reliability should be used in conjunction with theoretical calculations to inform sample size and ensure studies are adequately powered to detect true change in measures of interest.

Hereditary spastic paraplegia: More than an upper motor neuron disease.

Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases characterized by extreme heterogeneity in both their clinical manifestations and genetic backgrounds. Based on symptoms, HSPs can be divided into pure forms, presenting with pyramidal signs leading to lower-limb spasticity, and complex forms, when additional neurological or extraneurological symptoms are detected. The clinical diversity of HSPs partially reflects their underlying genetic backgrounds. To date, 76 loci and 58 corresponding genes [spastic paraplegia genes (SPGs)] have been linked to HSPs. The genetic diagnosis is further complicated by the fact that causative mutations of HSP can be inherited through all possible modes of transmission (autosomal-dominant and -recessive, X-linked, maternal), with some genes showing multiple inheritance patterns. The pathogenic mutations of SPGs primarily lead to progressive degeneration of the upper motor neurons (UMNs) comprising corticospinal tracts. However, it is possible to observe lower-limb muscle atrophy and fasciculations on clinical examination that are clear signs of lower motor neuron (LMN) involvement. The purpose of this review is to classify HSPs based on their degree of motor neuron involvement, distinguishing forms in which only UMNs are affected from those involving both UMN and LMN degeneration, and to describe their differential diagnosis from diseases such as amyotrophic lateral sclerosis.

Vascular reconstruction after retroperitoneal and lower extremity sarcoma resection.

PURPOSE: Soft tissue sarcomas (STS) of the retroperitoneum and the lower limb with invasion of major blood vessels are very rare malignancies. This study analyses the outcome of patients with vascular replacement during resection of STS of the retroperitoneum and the lower extremity with either arterial or concomitant arterial and venous infiltration. METHODS: Patients with vascular replacement during resection of sarcoma of the retroperitoneum and the lower extremity between 1990 and 2014 were included in this retrospective single center study. Patients with a sole infiltration of a major vein were excluded. The follow up was obtained from medical records, the general practitioner and a clinical examination whenever possible. The main endpoints were survival, graft patency and the rate of major amputations. RESULTS: Fourty seven patients were included in this study. Twenty patients have received an operation for a retroperitoneal STS, twenty seven for a STS of the lower extremity. The median follow-up was 24.5 months. The median survival was 113 months with a median tumor-free survival of 25 months. The two-year patency for arterial bypasses in the retroperitoneum and the lower extremity was 88% and 66%, respectively. Limb salvage rate was 89%. CONCLUSIONS: Invasion of major blood vessels is no contraindication for a resection of a STS in the retroperitoneum and the lower extremity, but it is accompanied by a high postoperative morbidity. Since surgical resection is the only curative therapy in these patients, it should also be offered to patients with infiltration of major blood vessels.

[Prevention of aortic erosion by a bone cement skid : Thoracic endovascular aortic repair following kyphoplasty]. / Pelottierung der A. thoracica descendens durch einen Zementsporn : Endovaskuläre Behandlung nach Kyphoplastie.

The underlying case report describes the successful endovascular prevention of an aortic injury by a bone cement skid after kyphoplasty. The intervention was performed in order to prohibit fatal aortic rupture or embolisation and underlines the role of vascular surgery techniques in interdisciplinary clinical networks.