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- [Wiskott-Aldrich syndrome. A report of a new mutation.] [JOURNAL ARTICLE]
- Rev Alerg Mex 2014 Jul-Sep; 61(3):219-23.
Wiskott-Aldrich syndrome was first reported clinically in 1937, and in 1954 the classic triad was identified: eccema, recurrent infections and thrombocytopenia with an X-linked transmission. Its incidence is estimated at 1 to 10 in one million live births per year. Wiskott Aldrich syndrome is caused by mutations in a gene in the short arm of chromosome X that encodes the Wiskott-Aldrich syndrome protein (WASp), which identification and sequencing was first performed in 1994, and since then about 300 mutations have been reported. This paper describes the case of a boy with Wiskott-Aldrich syndrome, with clinical and genetic diagnosis, with a considerable diagnostic delay attributable to an atypical presentation misdiagnosed as immune thrombocytopenia.
- Alemtuzumab plus cyclosporine treatment of the autoimmune hemolytic anemia in an adult bowel transplant. [Journal Article]
- Case Rep Transplant 2014.:262953.
An adult male underwent a bowel transplant for tufting enteropathy, receiving alemtuzumab, tacrolimus, and steroids as immunosuppressants. Five years later, he developed an autoimmune hemolytic anemia (AIHA), anti-IgG positive, with reduced reticulocyte count, leukopenia, and thrombocytopenia with antiplatelet antibodies. After an unsuccessful initial treatment with high dose steroids, reduction in tacrolimus dose, and intravenous immunoglobulin (IVIG), a bone marrow biopsy revealed absence of erythroid maturation with precursor hyperplasia. The patient was switched to sirolimus and received four doses of rituximab plus two courses of plasmapheresis, which decreased his transfusion requirements. After a febrile episode one month later, the AIHA relapsed with corresponding decreases in platelet and leukocyte count: cyclosporine A (CsA) was started with a second course of rituximab and IVIG without response, even though repeat bone marrow biopsy did not reveal morphology correlated to an acquired pure red cell aplasia (APRCA). Considering the similarity in his clinical and laboratory findings to APRCA, alemtuzumab was added (three doses over a week) with CsA followed by steroids. The patient was eventually discharged transfusion-independent, with increasing hemoglobin (Hb) levels and normal platelet and leukocyte count. One year later he is still disease-free with functioning graft.
- The influence of folate pathway polymorphisms on high-dose methotrexate-related toxicity and survival in children with non-Hodgkin malignant lymphoma. [Journal Article]
- Radiol Oncol 2014 Sep; 48(3):289-92.
We evaluated the influence of folate pathway polymorphisms on high-dose methotrexate (HD-MTX) related toxicity in paediatric patients with T-cell non-Hodgkin lymphoma (NHL).In total, 30 NHL patients were genotyped for selected folate pathway polymorphisms.Carriers of at least one MTHFR 677T allele had significantly higher MTX area under the time-concentration curve levels at third MTX cycle (P = 0.003). These patients were also at higher odds of leucopoenia (P = 0.006) or thrombocytopenia (P = 0.041) and had higher number of different HD-MTX-related toxicity (P = 0.035) compared to patients with wild-type genotype.Our results suggest an important role of MTHFR 677C>T polymorphism in the development of HD-MTX-related toxicity in children with NHL.
- Drug utilization evaluation of meropenem and correlation of side effects with renal status of patients in a teaching based hospital. [JOURNAL ARTICLE]
- Pak J Pharm Sci 2014 Sep; 27(5(Special)):1503-1508.
Meropenem is a restricted, broad spectrum and expensive antibiotic. The major consequences of irrational use of restricted antibiotics are increase drug resistance and drug expenditure. The use of antibiotics, specifically restricted antibiotics, must be monitored continuously to increase its adherence to the standard guidelines to avoid such problems. The objective of this study was to evaluate the appropriateness of meropenem use with respect to renal status of patients in a teaching based hospital. A retrospective study was carried out from 1st January 2013 to 30th June 2013 to determine the evaluation of meropenem use in accordance to the criteria developed through national (Infectious disease society of Pakistan) and international guidelines (Health care infection control practices advisory committee). The data was recorded on data collection form by thorough reviewing of patients' medical records. Main outcomes measured were indication, dose, interval, duration, creatinine clearance, complete blood count and culture sensitivity test. Correlation of different variable (side effects and generalized health) was also observed with reference to renal status of patients. Statistical analyses were performed using descriptive statistics. A total of 201 cases of meropenem prescription were identified during the study period. The variable, which was most consistent with the criteria was 'indication', in which 97.52% of meropenem prescription was indicated in diseases encouraged by guidelines. However, the use of meropenem as an empirical therapy was the major problem reported in this study as it adhered to in only 43% of the cases. It was also noted that prevalence of side effects increased when meropenem was prescribed in renal compromised patients, and also observed that generalized health of patients decreased with meronem use in renal unstable patients. Thrombocytopenia was the major problem associated with the meropenem use (37.81%). The study detected various areas where use of meropenem was not according to the standards. Strict policies and procedures need to be implemented to use meropenem in line with the standard guidelines.
- Gigantic ossified chronic epidural haematoma and contralateral postoperative subdural haematoma: A case report and literature review. [JOURNAL ARTICLE]
- Br J Neurosurg 2014 Aug 31.:1-2.
A 21-year-old woman was found to have a dramatic intracranial space-occupying lesion found via CT scan performed to investigate headache. Craniotomy was performed and the mass found to be a chronic extradural haematoma, whose aetiology was likely to have been spontaneous, due to thrombocytopenia in infancy. Although this was removed, her recovery was complicated by the need to treat a contralateral delayed subdural haematoma.
- Steroid-induced femoral head osteonecrosis in immune thrombocytopenia treatment with osteochondral autograft transplantation. [JOURNAL ARTICLE]
- Knee Surg Sports Traumatol Arthrosc 2014 Aug 31.
Osteonecrosis of the femoral head is a devastating complication of steroid administration and has rarely been observed in the treatment of immune thrombocytopenia. The treatment of osteochondral defects in advanced stages of avascular necrosis (AVN), characterized by collapse of the subchondral bone, remains an unsolved burden in orthopedic surgery. In this report, we present a case of a 19-year-old female that was admitted in the Emergency Department with walking disability and painful hip joint movement due to steroid-induced femoral head osteonecrosis. Two years before she was diagnosed with immune thrombocytopenia, for which she received pulse steroid therapy with high dose of dexamethasone and underwent a splenectomy. This case report is the first to describe the use of osteochondral autograft transplantation as a treatment of steroid-induced AVN of the femoral head due to immune thrombocytopenia at the age of 19 years with very good clinical and radiological results 3 years postoperatively. Level of evidence V.
- Inherited Macrothrombocytopenias. [JOURNAL ARTICLE]
- Semin Thromb Hemost 2014 Aug 31.
Inherited macrothrombocytopenias are a clinically heterogeneous group of disorders, many of which cause moderate-to-severe bleeding tendencies in affected individuals, but which remain under-recognized and are frequently misdiagnosed as immune thrombocytopenia purpura. Diagnostic strategies to date have included a predominant phenotypic approach. The emergence of genetic testing and the implementation of next generation sequencing strategies in the investigation and diagnosis of these disorders have broadened our understanding of their pathogenesis, classification, and presentation. This review describes the increasingly expanding group of recognized inherited macrothrombocytopenias and highlights their pathophysiology and the role of phenotypic and genetic testing in their description and diagnosis.
- [Immune thrombocytopenia and pregnancy: State of knowledge and unanswered questions.] [JOURNAL ARTICLE]
- Rev Med Interne 2014 Aug 26.
Pregnancy is a common problem in women with immune thrombocytopenia (ITP). It could be a source of anxiety for the patients and their family, nurses and medical doctors and many questions are unresolved in this setting. Most of published recommendations were based on experts' opinion rather than on evidence-based medicine and randomized studies. The objectives of this article are to remind the known recommendations and to discuss the unresolved questions and the prospective.
- Clinical characteristics and risk factors for low dose methotrexate toxicity: A cohort of 28 patients. [REVIEW]
- Autoimmun Rev 2014 Aug 27.
Low dose (10-25mg/week) methotrexate is widely used for the management of systemic inflammatory diseases, and is considered to be relatively safe. Toxicity due to low dose MTX has been reported but is poorly characterized. We describe the clinical features, risk factors, and outcomes of low dose MTX toxicity in a large case series at our center.We conducted a retrospective case series of all adult (>18years) patients hospitalized at Sheba Medical Center, between 2005 and 2012 for low dose MTX toxicity.We identified 28 patients (age: 70.4±13.7years, range: 33-88; 20 (71%) females) hospitalized for low dose MTX toxicity. Indications for MTX therapy included: rheumatoid arthritis (39.2%), psoriasis±arthritis (21.5%), polymyalgia rheumatica (10.8%) and other inflammatory conditions (28.5%). Pancytopenia was the most common manifestation of low dose MTX toxicity detected in 78.5% of the patients. Potential risk factors included acute renal failure, hypoalbuminemia, concurrent use of drugs known to interact with MTX, and dose errors. Serum MTX concentrations (n=20, mean 0.04±0.07μg/mL range: 0-0.3) did not correlate with the degree of either neutropenia (r=-0.36; p=0.18) or thrombocytopenia (r=0.44; p=0.10). Seven (25%) patients died, all from pancytopenia followed by sepsis. Serum MTX concentrations did not differ between the patients who died from MTX toxicity (n=6; mean: 0.05±0.04μg/mL) and those who survived the toxicity (n=14 mean 0.04±0.08; p=0.45).Low-dose MTX toxicity can be life threatening, mainly due to myelosuppression. There is no rationale for MTX therapeutic drug monitoring in the setting of low-dose toxicity.
- Trends in Parenteral Direct Thrombin Inhibitor Use in Pediatric Patients: Analysis of a Large Administrative Database. [JOURNAL ARTICLE]
- Arch Pathol Lab Med 2014 Sep; 138(9):1229-1232.
Context.-Parenteral direct thrombin inhibitors (DTIs) may be used in pediatric patients with contraindications to heparin therapy, such as heparin-induced thrombocytopenia. Few data exist regarding the use of DTIs in pediatric patients. Objective.-To characterize the use of DTIs in pediatric patients, including monitoring strategies and bleeding complications. Design.-A retrospective descriptive study was designed and the Pediatric Health Information System database was queried from 2004 to 2011 for pediatric patients receiving a parenteral DTI. Patient demographic and hospital data, mortality, disease state, and procedure information (from International Classification of Diseases, Ninth Revision codes) were collected from the query. DTI monitoring information was also collected. Patients were divided into 2 time periods (2004-2007, 2008-2011) to evaluate trends. Results.-Two hundred eight patients met study criteria (50.9% male, 64.4% white), and children (2-12 years of age) represented 34.6% of the population. Congenital heart disease was present in 43.8% and cardiovascular surgical procedure occurred in 28.4%. Argatroban was most commonly used (73.1%) and bivalirudin use increased (P < .001). Bleeding complications were present in 37.9% of patients and mortality was 19.7%. Bleeding complications were associated with lepirudin (62.5%) and argatroban (41.7%) more often as compared with bivalirudin (18.8%) (P < .001). Activated partial thromboplastin time and prothrombin time were used more often in patients receiving argatroban and lepirudin in comparison with bivalirudin, and thrombin time was used more often in patients receiving lepirudin (P < .001). Activated clotting time use increased over time (5.1% versus 17.5%, P = .02). Conclusion.-Pediatric use of DTIs is infrequent and occurs in patients with high morbidity and mortality.