Clinical Response to Olaparib in a Patient With Leptomeningeal Carcinomatosis in Newly Diagnosed Breast Cancer With Germline Mutation.

Case of LMC in a BRCA2-mutated breast cancer patient shows clinical improvement with Olaparib therapy.

Biopsychosocial Factors Associated With Pain and Pain-Related Outcomes in Adults and Children With Sickle Cell Disease: A Multivariable Analysis of the GRNDaD Multicenter Registry.

Pain is the primary symptomatic manifestation of sickle cell disease (SCD), an inherited hemoglobinopathy. The characteristics that influence pain experiences and outcomes in SCD are not fully understood. The primary objective of this study was to use multivariable modeling to examine associations of biopsychosocial variables with a disease-specific measure of pain interference known as pain impact.

Quality of life in a large multinational haemophilia B cohort (The B-Natural study) - Unmet needs remain.

Introduction: The B-Natural study is a multicentre, multinational, observational study of haemophilia B (HB) designed to increase understanding of clinical manifestations, treatment and quality of life (QoL).

Aim: To characterise and compare QoL in HB across disease severity groups and individuals with inhibitors to identify gaps in treatment.

Methods: A total of 224 individuals from 107 families were enrolled from a total of 24 centres in North America (n = 16), Europe (n = 7) and Asia (n = 1).

North American Physician Practice Patterns in the Management of Anticoagulation in Pregnancy.

During pregnancy and in the postpartum period women are at increased risk of venous thromboembolism (VTE) owing to hypercoagulability and mechanical issues, as well as nonpregnancy conditions including inherited and acquired thrombophilia. Although guidelines exist for the use of thromboprophylaxis in this setting, there are differences in the specifics of the recommendations among expert societies. We assessed the current practice patterns of North American providers in the prevention of pregnancy-associated VTE in women with thrombophilia.

Regional variation and cost implications of prescribed extended half-life factor concentrates among U.S. Haemophilia Treatment Centres for patients with moderate and severe haemophilia.

Background: Extended half-life (EHL) factor VIII (FVIII) and IX (FIX) products are intended to decrease the burden of prophylaxis for patients with haemophilia A or B. Whether these newer concentrates have led to meaningful clinical practice change remains vague.

Aim: To characterize the longitudinal use of standard (SHL) and EHL factor concentrates at haemophilia treatment centres (HTCs), using the ATHNdataset, a US database of 138 ATHN-affiliated HTCs.

Linking community-based monitoring to water policy: Perceptions of citizen scientists.

This paper examines the relationships between Community-Based Water Monitoring (CBM) and government-led water initiatives. Drawing on a cross-Canada survey of over one hundred organizations, we explore the reasons why communities undertake CBM, the monitoring protocols they follow, and the extent to which CBM program members feel their findings are incorporated into formal (i.e.

Aging in Sickle Cell Disease: Co-morbidities and New Issues in Management.

Availability of hydroxyurea (HU) coupled with early therapeutic interventions has increased the life expectancy of patients with sickle cell disease. Hence, the sickle cell community needs to be aware of common diseases of aging that survivors are predisposed to. We chose to investigate the sickle cell disease-related complications as well as non sickle cell disease-related medical problems of aging in 45 sickle cell patients over the age of 40 years.

Adult-Onset Ligneous Conjunctivitis with Detection of a Novel Plasminogen Gene Mutation and Anti-Plasminogen IgA Antibody: A Clinicopathologic Study and Review of Literature.

Purpose: To report a novel plasminogen gene mutation and detection of anti-plasminogen antibodies in a patient with ligneous conjunctivitis successfully treated with 60% fresh frozen plasma (FFP).

Methods: Retrospective data collected on a 45-year-old Caucasian female presenting with unilateral chronic membranous lesions.

Results: Laboratory investigation demonstrated decreased plasminogen antigen level, plasminogen activity, and rate of plasminogen activation by u-PA or t-PA, and elevated plasminogen activator inhibitor-1.

Golgi-located NTPDase1 of Leishmania major is required for lipophosphoglycan elongation and normal lesion development whereas secreted NTPDase2 is dispensable for virulence.

Parasitic protozoa, such as Leishmania species, are thought to express a number of surface and secreted nucleoside triphosphate diphosphohydrolases (NTPDases) which hydrolyze a broad range of nucleoside tri- and diphosphates. However, the functional significance of NTPDases in parasite virulence is poorly defined. The Leishmania major genome was found to contain two putative NTPDases, termed LmNTPDase1 and 2, with predicted NTPDase catalytic domains and either an N-terminal signal sequence and/or transmembrane domain, respectively.

Consensus review of the treatment of cardiovascular disease in people with hemophilia A and B.

With advances in care, increasing numbers of people with hemophilia (PWH) achieve near-normal life expectancies and present with typical age-related cardiovascular conditions. Evidence-based guidelines for medical or surgical management of cardiovascular conditions in individuals with hemophilia are limited. Published recommendations exist for the management of some common cardiovascular conditions (eg, ischemic heart disease, atrial fibrillation), but identifying optimal strategies for anticoagulant or antithrombotic therapy constitutes the primary challenge of managing nonoperative cardiovascular disease (CVD) in PWH.

T-cell lymphoblastic leukemia/lymphoma: relapse 16 years after first remission.

Little information is available regarding late relapse in patients with T-lymphoblastic leukemia/lymphoma (T-LBL). Because of the aggressive nature of this disease, relapse is common and often happens early. Late relapses are rare and generally occur within a few years after initial remission.

Management of pregnancy in a patient with severe hemophilia type a.

Hemophilia type A is a rare inherited bleeding disorder with a diversity of clinical manifestations ranging from persistent bleeding after minor trauma, spontaneous deep muscle or joint hemorrhage, to intracranial hemorrhage. As an X-linked disorder, hemophilia is rare in females and therefore there is little experience with pregnancy and no standardized guidelines to prevent bleeding antepartum, at delivery, and postpartum. We report the clinical course and management of a woman with severe hemophilia A who on two occasions had uncomplicated pregnancies and vaginal deliveries at term utilizing bolus recombinant factor VIII concentrate.

A case of imported severe plasmodium falciparum malaria in the emergency department and the current role of exchange transfusion treatment.

Background: The role of exchange transfusion in the management of severe malaria is not well documented in Emergency Medicine literature.

Objectives: The goal of this article is to review the importance of considering malaria in the differential diagnosis of the febrile returned traveler and to discuss the role of exchange transfusion in the management of severe Plasmodium falciparum malaria.

Case Report: A 59-year-old woman presented to the Emergency Department (ED) with severe P.

Activation of the endogenous coagulation system in patients with atrial flutter: relationship to echocardiographic markers of thromboembolic risk.

Background: Atrial thrombus formation in patients with atrial flutter raises concerns of stroke risk. We investigated patients with isthmus-dependent atrial flutter for coagulation abnormalities before and after cardioversion to sinus rhythm by catheter ablation, and evaluated the relationship of the abnormalities to the echocardiographic risk markers of stroke.

Methods And Results: Plasma samples were drawn prior to insertion of catheters, immediately after the procedure, and 24 hours afterwards.

Abiotrophia spp. and Staphylococcus epidermidis endocarditis treated with daptomycin.

Endocarditis due to Abiotrophia spp. occurs in about 5% of endocarditis cases. Most of the cases respond to a combination of penicillin and gentamicin, or vancomycin.

Developing positive behavior at camp: contain-discuss-plan.

Effective work with children is the cornerstone of camper retention in any summer program. The quality of this work depends, in part, upon an effective program for maximizing positive behavior and minimizing behavioral difficulties or crises. This article describes the unique context of the camp environment in relation to the establishment of good child-centered practices for behavior and prosocial development.

Fresh frozen plasma prepared with amotosalen HCl (S-59) photochemical pathogen inactivation: transfusion of patients with congenital coagulation factor deficiencies.

Background: Photochemical treatment (PCT) with amotosalen HCl (S-59) was developed to inactivate pathogens and white blood cells in plasma (PCT-FFP) used for transfusion support.

Study Design And Methods: An open-label, multicenter trial was conducted in patients with congenital coagulation factor deficiencies (factors [F]I, FII, FV, FVII, FX, FXI, and FXIII and protein C) to measure the kinetics of specific coagulation factors, hemostatic efficacy, and safety of PCT-FFP. Posttransfusion prothrombin time (PT), partial thromboplastin time (PTT), and clinical hemostasis were evaluated before and after PCT-FFP transfusions.

The safety and efficacy of recombinant human blood coagulation factor IX in previously untreated patients with severe or moderately severe hemophilia B.

This international clinical trial evaluated the safety and efficacy of recombinant factor IX (rFIX) in previously untreated patients (PUPs) with severe or moderately severe hemophilia B (FIX activity, < or = 3 IU/dL). Sixty-three PUPs aged younger than 1 month to 14 years received rFIX (median treatment duration, 37 months; range, 4-64 months). Mean rFIX recovery (0.