- Lupus anticoagulant hypoprothrombinemia syndrome associated with systemic lupus erythematosus in children: report of two cases and systematic review of the literature. [Review]
- RIRheumatol Int 2018 Aug 11
- We report two children with systemic lupus erythematosus (SLE) having severe bleeding manifestations and lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) along with a review of published case...
We report two children with systemic lupus erythematosus (SLE) having severe bleeding manifestations and lupus anticoagulant hypoprothrombinemia syndrome (LAHPS) along with a review of published cases of childhood SLE and LAHPS. We report clinical and laboratory profile of two children diagnosed with childhood SLE and LAHPS. We also conducted literature search to identify similar published cases and a review was performed. An 8-year-old girl had presented with fever, arthralgia, alopecia, anasarca and bleeding from multiple sites. She was diagnosed to have SLE based on laboratory investigations which showed anemia, thrombocytopenia, low complements, positive anti-nuclear antibody (ANA) and double standard DNA (dsDNA) antibodies. She was also found to have prolonged prothrombin time (PT) and activated partial thromboplastin time (aPTT), positive lupus anticoagulant (LA) and low factor II levels. She was diagnosed to have SLE with LAHPS and treated with intravenous methylprednisolone, intravenous immunoglobulin and cyclophosphamide with good outcome. Patient 2 was a 7-year-old-boy who was diagnosed to have SLE when he presented with fever, anasarca, malar rash, arthritis and bleeding from skin and mucosa. Laboratory investigations revealed anemia, proteinuria, low complements, positive ANA and anti-dsDNA titre. Coagulation studies showed deranged PT and aPTT, positive LA and low factor II levels. He was diagnosed to have SLE with LAHPS and was treated with intravenous methylprednisolone and oral mycophenolate mofetil. Review of literature of cases with childhood SLE and LAHPS showed that there are 32 cases have been reported till date which have been summarized. LAHPS is an uncommonly identified cause of bleeding in patients with SLE and must be suspected while evaluating these children.
- Late-Onset Systemic Lupus Erythematosus With Lupus Nephritis in a 74-Year-Old Male: A Brief Case and Review. [Journal Article]
- CJCan J Kidney Health Dis 2018; 5:2054358118793397
- Late-onset systemic lupus erythematosus (SLE) represents a specific subgroup of SLE, and although there is no strict age cut-off, 50 years is commonly used as the minimum age for disease onset. In th...
Late-onset systemic lupus erythematosus (SLE) represents a specific subgroup of SLE, and although there is no strict age cut-off, 50 years is commonly used as the minimum age for disease onset. In this report, we present a case of a 74-year-old male with late-onset SLE and biopsy-proven lupus nephritis (LN).
- Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. [Journal Article]
- AJAm J Hum Genet 2018 Aug 02; 103(2):221-231
- Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predispositi...
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIα), which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination. We also identify a homozygous truncating variant in RMI1, which encodes another component of the BTRR complex, in two individuals with microcephalic dwarfism. The TOP3A mutations substantially reduce cellular levels of TopIIIα, and consequently subjects' cells demonstrate elevated rates of SCE. Unresolved DNA recombination and/or replication intermediates persist into mitosis, leading to chromosome segregation defects and genome instability that most likely explain the growth restriction seen in these subjects and in Bloom syndrome. Clinical features of mitochondrial dysfunction are evident in several individuals with biallelic TOP3A mutations, consistent with the recently reported additional function of TopIIIα in mitochondrial DNA decatenation. In summary, our findings establish TOP3A mutations as an additional cause of prenatal-onset short stature with increased cytogenetic SCEs and implicate the decatenation activity of the BTRR complex in their pathogenesis.
- Partial small intestinal resection for successful surgical management of refractory protein-losing gastroenteropathy in systemic lupus erythematosus: A case report and literature review. [Case Reports]
- MMedicine (Baltimore) 2018; 97(30):e11357
- CONCLUSIONS: Timely surgical treatment can be successful in managing therapy-resistant and refractory PLE in patients with SLE.
- A malar rash from inner Rio de Janeiro State, Brazil. [Journal Article]
- IIDCases 2018; 12:99-100
- A 49-year-old previously healthy woman from Rio de Janeiro State, Brazil, presented with a right malar rash that started as a tiny pustule and progressed to an ulcerated papulonodular lesion within t...
A 49-year-old previously healthy woman from Rio de Janeiro State, Brazil, presented with a right malar rash that started as a tiny pustule and progressed to an ulcerated papulonodular lesion within ten weeks. A presumptive diagnosis of zoonotic sporotrichosis was made based on excellent response to treatment and epidemiological linkage with a diseased cat.
- Pediatric systemic lupus erythematosus. Retrospective analysis of clinico-laboratory parameters and their association with Systemic Lupus Erythematosus Disease Activity Index score. [Journal Article]
- SMSaudi Med J 2018; 39(6):627-631
- CONCLUSIONS: Pediatric systemic lupus erythematosus patients with higher SLEDAI score were most significantly associated with pyuria, high ANA titers, and elevated ESR.
- STAT4 gene polymorphism in two major autoimmune diseases (multiple sclerosis and juvenile onset systemic lupus erythematosus) and its relation to disease severity. [Journal Article]
- EJEgypt J Neurol Psychiatr Neurosurg 2018; 54(1):16
- CONCLUSIONS: STAT4 polymorphism was significantly associated with MS and JO-SLE. Though homozygous JO-SLE patients are more risky for severe disease manifestations, homozygous MS patients are not risky for severe disease disability.
- Pediatric Systemic Lupus Erythematosus: Learning From Longer Follow Up to Adulthood. [Journal Article]
- FPFront Pediatr 2018; 6:144
- Background: Pediatric systemic lupus erythematosus (pSLE) is a rare condition, representing approximately 10% of SLE cases. The aim of this study was to identify variables to improve the diagnostic ...
Background: Pediatric systemic lupus erythematosus (pSLE) is a rare condition, representing approximately 10% of SLE cases. The aim of this study was to identify variables to improve the diagnostic awareness and management of pSLE patients. Methods: This retrospective study included 25 patients diagnosed with pSLE and followed at the University of Pisa. We collected data about clinical profile at disease onset and during a long-term follow-up, including disease activity, organ damage development, and treatments received. Results: The mean patient age at disease onset was 14.6 ± 1.6 years, and the mean follow-up period was 14.17 ± 8.04 years. The most common initial manifestations were arthritis, malar rash, and cytopenias. The median time to diagnosis since the first symptoms was 6 months, and was significantly longer in patients with hematological onset (54 months). During follow-up, the number of patients with renal involvement showed a significant increase, from 36% at diagnosis to 72.2% after 10 years of disease evolution. Patients who developed chronic organ damage maintained a higher time-averaged disease activity during follow-up and received a significantly higher dose of corticosteroids. Conclusion: Patients with immune cytopenia represent a group deserving strict clinical follow-up for the risk of evolution to SLE. Intense surveillance of renal function, early treatment and steroid-sparing strategies should be strongly considered in the management of pSLE patients.
- Systemic Lupus Erythematosus for Primary Care. [Review]
- PCPrim Care 2018; 45(2):257-270
- Systemic lupus erythematosus is a chronic autoimmune condition with variable organ system involvement; manifestations can range from mild to potentially life threatening. Early diagnosis is important...
Systemic lupus erythematosus is a chronic autoimmune condition with variable organ system involvement; manifestations can range from mild to potentially life threatening. Early diagnosis is important, as progression of disease can be halted. Diagnosis is made by review of signs and symptoms, imaging, and serology.
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- Approach to Patients with Suspected Rheumatic Disease. [Review]
- PCPrim Care 2018; 45(2):169-180
- Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detai...
Patients with rheumatic disease may present with a myriad of symptoms, from joint pain and rashes to more subtle findings, such as dry eyes and dry mouth. In this article, the authors review in detail the common presenting symptoms of rheumatic disease along with key features in the history and physical examination to help distinguish these from other disease processes.