Thrombotic Thrombocytopenic Purpura and Systemic Lupus Erythematosus: A Rare and Life-threatening Association

Introduction: The association between thrombotic thrombocytopenic purpura (TTP) and systemic lupus erythematosus (SLE) is uncommon. Diagnosis is often difficult because of their clinical and biologicalsimilarities. The presence of TTP in SLE worsens the prognosis and causes high mortality in the absence of early therapeutic interventions.Case report: We report the case of a 20 year-old man, admitted with nephrotic range proteinuria, hematuria and rapidly progressive renal failure. He also had anemia, thrombocytopenia and pericardial effusion.The diagnosis of SLE was made based on these clinical findings along with positive antinuclear and anti dsDNA antibodies. Renal biopsy revealed class IV/ V lupus nephritis (LN) with active lesions of thrombotic microangiopathy. The evolution of neurological deficit, persistent thrombocytopenia and active microangiopathic changes suggested the diagnosis of associated TTP. The patient was treated initially with corticosteroids and cyclophosphamide. Plasmapheresis could only be started 16 days later. Mycophenolate mofetil and rituximab weresuccessively tried in the absence of improvement in renal function and persistent thrombocytopenia. The patient’s neurological condition deteriorated necessitating transfer to the intensive care unit and mechanical ventilation. There he developed pneumonia and died of septic shock two months after presentation.Conclusion: The coexistence of TTP and SLE needs to be considered early in SLE patients with complicated course. It may not respond to the conventional immunosuppressive treatment of SLE

Histopathological Study of Pure Primary Nephrotic Syndrome in Adolescents and Young Moroccan Adults

Introduction: The primary nephrotic syndrome (PNS) is the most common glomerular nephropathy in children. Its diagnosis and management don’t require histopathological study. It occurs mainly in the form of minimal glomerular lesion and in most cases respond to corticosteroids. The literature on histological lesions of pure PNS in adolescents and young adults is rare. Thus, there are no criteria or recommendations regarding the indications for renal biopsy in patients aged 12-18 years. Methods: This is a retrospective study in which we encountered a total of 386 patients aged 12 to 25 years who were admitted and biopsied at the Nephrology Unit of Ibn Roshd Hospital in Casablanca during the period from January 1st, 2000 to September 30th, 2009 . Patients with pure PNS were 77 (20%), all were included in this study. Results: The average incidence of pure PNS was 7.7 cases per year. The study included 47 males (61%) and 30 females (39%). Patients were sent from all parts of Morocco and the average length of hospital stay was four days. Renal biopsies showed the following morphological lesions: minimal glomerular lesions in 61 cases (79.20%), focal segmental hyalinosis in 7 cases (9.10%), extramembranous glomerulonephritis in 7 cases (9.10%) and 2 cases of renal amyloidosis (2.6%). Conclusion: The minimal glomerular lesions were the most common cause of pure primary nephrotic syndrome in patients aged 12-25 years. Initial renal biopsy may not be indicated in this age group, and an empiric therapeutic trial with corticosteroids may be initially considered.Keywords: Glomerular Disease; Children; Nephrotic Syndrome; Renal Biops

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are described, and we emphasise the importance of computerised tomography to characterize the craniocervical malformation complex. To the best of our knowledge, this is the first clinical report of a child with spondylocarpotarsal synostosis associated with atlanto-axial rotatory fixation

Analysis of mass spectrometry data from the secretome of an explant model of articular cartilage exposed to pro-inflammatory and anti-inflammatory stimuli using machine learning

Background: Osteoarthritis (OA) is an inflammatory disease of synovial joints involving the loss and degeneration of articular cartilage. The gold standard for evaluating cartilage loss in OA is the measurement of joint space width on standard radiographs. However, in most cases the diagnosis is made well after the onset of the disease, when the symptoms are well established. Identification of early biomarkers of OA can facilitate earlier diagnosis, improve disease monitoring and predict responses to therapeutic interventions. Methods: This study describes the bioinformatic analysis of data generated from high throughput proteomics for identification of potential biomarkers of OA. The mass spectrometry data was generated using a canine explant model of articular cartilage treated with the pro-inflammatory cytokine interleukin 1 β (IL-1β). The bioinformatics analysis involved the application of machine learning and network analysis to the proteomic mass spectrometry data. A rule based machine learning technique, BioHEL, was used to create a model that classified the samples into their relevant treatment groups by identifying those proteins that separated samples into their respective groups. The proteins identified were considered to be potential biomarkers. Protein networks were also generated; from these networks, proteins pivotal to the classification were identified. Results: BioHEL correctly classified eighteen out of twenty-three samples, giving a classification accuracy of 78.3% for the dataset. The dataset included the four classes of control, IL-1β, carprofen, and IL-1β and carprofen together. This exceeded the other machine learners that were used for a comparison, on the same dataset, with the exception of another rule-based method, JRip, which performed equally well. The proteins that were most frequently used in rules generated by BioHEL were found to include a number of relevant proteins including matrix metalloproteinase 3, interleukin 8 and matrix gla protein. Conclusions: Using this protocol, combining an in vitro model of OA with bioinformatics analysis, a number of relevant extracellular matrix proteins were identified, thereby supporting the application of these bioinformatics tools for analysis of proteomic data from in vitro models of cartilage degradation