Lombardy diagnostic and therapeutic network of thrombotic microangiopathy.

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is a rare, life-threatening thrombotic microangiopathy (TMA) requiring urgent treatment. Standardization of its diagnosis and optimal management is challenging. This study aimed to evaluate the role of centralized, rapid testing of ADAMTS13 in patients experiencing acute TMAs requiring plasma-exchange (PEX) and to estimate the incidence of TTP in a large Italian Region. METHODS: We perfomed a cohort study in the frame of the project "Set-up of a Lombardy network for the study and treatment of patients undergoing apheresis", including 11 transfusion centers in the Region. Consecutive patients referred from 2014 to 2016 with acute TMAs requiring PEX were enrolled. Centralized ADAMTS13 activity testing was performed at the Milan Hemophilia and Thrombosis Center within 24 h. RESULTS: Forty-three TMA patients (44 events) were enrolled, of whom 35 (81%) had severe ADAMTS13 deficiency. Patients with severe ADAMTS13 deficiency were younger, mainly women, with a higher prevalence of autoimmune disorders and a lower prevalence of cancer. Clinical and laboratory characteristics of patients with and without severe ADAMTS13 deficiency largely overlapped, with a lower platelet count being the only baseline marker that significantly differed between the two patient groups (ADAMTS13 activity < 10% vs ≥ 10%: median difference of -27 × 109/l, 95% CI - 37 to - 3). PEX treatment was initiated in all patients, but soon discontinued in cases without severe ADAMTS13 deficiency. In this group, the mortality rate was higher and no episode exacerbations or relapses within 6 months occured. The estimated average annual incidence of acute acquired TTP events was 1.17 [0.78-1.55] per million people. CONCLUSIONS: Severe ADAMTS13 deficiency distinguished two groups of patients with largely overlapping clinical features but different treatment and disease course. This study provides a feasible model implemented in a large Italian region for the practical clinical approach to TMAs and underlines the importance of urgent ADAMTS13 activity testing for an accurate differential diagnosis and therapeutic approach.

Long constructs in the thoracic and lumbar spine with a minimally invasive technique.

BACKGROUND: Literature about long implants used together with a minimally invasive spine surgery (MISS) technique is scarce. Our objective is to contribute our surgical experience in this field and to specifically focus on several technical details. PATIENTS AND METHODS: A digitally-dissected canal along the paravertebral muscles was created linking the stab wounds on each side in relation with the pedicles to be cannulated. Screws were inserted following the percutaneous technique. Long rods were modelled, threaded through the extender sleeves along the paravertebral canal and pushed into the screw heads with the reduction forceps. When fusion was needed, the facet complex was decorticated with a drill. To insert a cross-link, a canal between the 2 rods was digitally created and the spinous process was drilled. RESULTS: 8 patients underwent surgery (age range: 25-77 years). Indications were postosteomyelitis kyphosis in 3 patients, bone tumor in 3, and spine fracture in 2. No blood transfusions were necessary during or after surgery. A cross-link was inserted in 2 patients. Posterolateral bone fusion was attempted in 4, but radiologically identifiable in none. In one patient a cantilever manoeuvre was done to correct kyphosis. Mean duration of surgery was 4 h. There were no clinical complications related to the operation or the hardware (mean follow-up of 7.14 months, range: 1-15 months). CONCLUSION: The application of MISS techniques can be broadened to long spinal constructs to assess fractures, tumors or deformity, especially in elderly or debilitated patients. Nevertheless, posterolateral fusion is still a challenge through these limited exposures.

Choroid plexus papilloma with stromal deposition of amyloid and elastic material.

Congophilic birefringent amyloid deposits, with immunostaining for transthyretin (TTR) and amyloid P, associated with numerous coarse, enlarged and thick elastic fibres, are reported in the stroma of two choroid plexus papillomas, a finding not previously described in choroid plexus tumours. TTR was expressed as aggregates of 'doughnut-shaped' bodies, in which the TTR-positive peripheral area encircled the elastic fibre (TTR-negative core). Ultrastructurally, the amyloid microfibrils surrounded the elastic fibres and appeared to continue into the microfibrillar mantle of the latter. The stromal TTR-amyloid deposits associated with abundant elastic fibres in tumours that occur in the choroid plexus may be related to the alteration (production/accumulation, insufficient breakdown and/or extracellular matrix modifications) of some of the choroid plexus functions (removal, target and source of polypeptides, including TTR synthesis) and may be of interest for future studies on choroid plexus polypeptide activity and on protein development into elastomeric and amyloidogenic microfibrils.

[Intraoperative neurophysiological monitoring of the spinal cord: our experience]. / Monitorización neurofisiológica intraoperatoria de la médula espinal: nuestra experiencia.

INTRODUCTION: The main objective of intraoperative monitoring of the spinal cord is to detect any neurological damage that may occur (and which would otherwise go unnoticed) while it is still reversible. AIM: To retrospectively evaluate the effectiveness of neurophysiological monitoring in spine and spinal cord surgery since the time such procedures were first implemented within our centre. PATIENTS AND METHODS: The patients were divided into three groups, according to their pathologies. They were clinically evaluated with the McCormick scale before surgery, on discharge from hospital and at six months after the operation. Neurophysiological monitoring was performed with motor evoked potentials, somatosensory potentials and screw stimulation, when appropriate. RESULTS: The sample finally consisted of 49 subjects, with a mean age of 51 +/- 19.4 years. Distribution by groups was 53.1% spinal cord tumours, 22.4% traumatic injuries to the spinal cord and 24.5% bone/disc pathologies. During surgery potentials improved in 4.08% of patients, in 63.26% they remained intact, 20.41% were alerted by the neurophysiologist with intact potentials, 10.2% suffered a transitory decline and in one case there was permanent loss. All the patients who were submitted to a follow-up at six months displayed a clinical status that was the same or better than the one before their operation. CONCLUSIONS: Neurophysiological monitoring is a valuable tool that prevented, in 30.61% of our patients, damage that could otherwise have occurred. From the clinical point of view, its high predictive value is also worth highlighting.

[Bilateral lower limb compartment syndrome after lumbar schwannoma surgery in genupectoral position]. / Síndrome compartimental bilateral en miembros inferiores tras cirugía deschwannoma lumbar en posición genupectoral.

Lower limb compartment syndrome is an unusual complication of the genu-pectoral position in lumbar spine surgery. We report a case of compartment syndrome in a patient who was operated in the genu- pectoral position for lumbar schwannoma resection. Overweigth and long time surgery could be important predisposing factors. Early diagnosis and treatment are mandatory to prevent permanent neurological deficits and other possible complications.

Rare bleeding disorders.

Deficiencies of coagulation factors other than factor VIII and factor IX (afibrinogenemia, FII, FV, FV+FVIII, FVII, FX, FXI, FXIII) that cause bleeding disorders (RBDs) are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500,000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecular defects, and the actual management of bleeding episodes are not as well established as for hemophilia A and B. The study of the genetic basis of these disorders could represent an important tool for prevention through prenatal diagnosis. Treatment of patients with RBDs during bleeding episodes or surgery is a challenge because of the lack of experience and the paucity of data. For some deficiency factor concentrates are still non available and severe complications can occur. These complications can be minimized by assessment of risks of bleeding and thrombosis, use of haemostatic means other than blood components or no therapy at all. The RBDs pose a problem for guideline writers because there are no suitable clinical trials to supply good evidence for how these people are best treated. The lack of adequate information on clinical manifestations, treatment and genetic basis of RBDs could be improved by the collection of data in an International Database (http://www.rbdd.org), linkable to others previously published. This could be a useful tool to fill the gap between clinical data and clinical practice. This article reviews the genetic basis of RBDs, problems and complications of treatment, problems in the preparation of suitable guidelines for treatment and the future perspectives of the International Registry on RBDs.