Service users' experiences of obtaining and giving information about disorders of sex development

Objective  To quantify participants' experiences of obtaining and giving information about disorders of sex development (DSD).
Design  Cross-sectional survey study that asked people about their current and past experiences relating to DSD disclosure.
Setting  A large tertiary referral centre for DSD management in the UK.
Population  One hundred of 126 people with a confirmed diagnosis of DSD who were invited to participate in the study formed the usable sample.
Methods  All people who attended clinic for follow-up during the study period and members of a patient support group whose annual meeting fell within the study period were asked to complete the Middlesex Communication Survey.
Main outcome measures  The Middlesex Communication Survey.
Results  Younger participants were more likely to report having been appropriately informed about their diagnosis than older people. Nearly half of the former had been fully informed about their diagnosis by age 15 years, compared with 0% of the older age group. In terms of information sharing, mothers were most likely to be the person with whom the participant had shared (almost/all) DSD information (74%), followed by current partners (71%). Information relating to genital surgery, presence of testes and clitoral anomalies were the least likely aspects to have been unambiguously shared with even the most informed person.
Conclusions  Our results suggest that difficulties in obtaining DSD information from care providers were common, and that communication has improved for younger participants. The study also confirmed that many people with DSD continue to struggle with confiding, even in those closest to them, about aspects of their diagnosis. Care protocol needs to centralise psychological adaptation, which should also be a primary focus for future research.     

Relaxatio diaphragmatica nach künstlicher Zwerchfellähmung

Ohne Zusammenfassung     

Zur Klinik und Therapie der Zwerchfellbrüche

Ohne Zusammenfassung     

Human thrombopoietin levels are high when thrombocytopenia is due to megakaryocyte deficiency and low when due to increased platelet destruction

Thrombopoietin (TPO), the ligand for c-mpl, stimulates proliferation of committed megakaryocytic progenitors and induces maturation of megakaryocytes. To better understand factors regulating TPO levels, we measured blood levels of TPO in patients with impaired platelet production due to aplastic anemia (AA) and with platelet destructive disorders, including idiopathic thrombocytopenic purpura (ITP), posttransfusion purpura (PTP), drug purpura (DP), and X-linked thrombocytopenia (XLTP). The TPO receptor capture enzyme immunoassay (EIA) used had a detection limit of integral of approximately-150 to 200 pg/mL. TPO was undetectable in 88 of 89 normal individuals. Eighteen of 19 patients with AA and a mean platelet count (MPC) of 18,000/microliters (2,000 to 61,000/microliters) had markedly elevated TPO levels (mean, 1,467 pg/mL; range, 597 to 3,834 pg/mL). Eight AA patients who responded to immunosuppressive therapy with their MPC increasing to 140,000/microliters (92,000 to 175,000/microliters) had substantial decreases in TPO (mean, 440 pg/mL; range, 193 to 771 pg/mL). Initial TPO levels did not differ significantly between responders and nonresponders. In contrast, all 21 patients with ITP and an MPC of 16,000/microliters (1,000 to 51,000 /microliters) had undetectable TPO levels, as did 6 patients with acute PTP or DP and 2 patients with XLTP. Megakaryocyte mass, reflected in the rate of platelet production, appears to be the major determinant of TPO levels in thrombocytopenic patients rather than circulating platelet levels per se. Measurement of serum TPO may be useful in differentiating thrombocytopenias due to peripheral destruction from those due to thrombopoietic failure.     

REPAIR OF ABDOMINAL AORTIC ANEURYSM AFTER RENAL TRANSPLANTATION WITHOUT RENAL PROTECTION

SUMMARY The successful resection is reported of an abdominal aortic aneurysm after renal transplantation without the use of bypass or cooling procedure to preserve the kidney.     

JunB as a potential mediator of PTHrP actions: new gene targets Ephrin B1 and VCAM‐1

Parathyroid hormone‐related protein (PTHrP) is an integral mediator of physiologic and pathologic processes and has demonstrated actions in the periodontium. PTHrP functions via AP‐1, and specifically through JunB. This study identified JunB‐dependent downstream mediators of PTHrP using OCCM cementoblastic transfectants with JunB over‐ or reduced expression. Over‐expressing cells showed an increase in proliferation, while the opposite was seen in siRNA transfected cells. Microarray analysis of over‐expressing cells revealed more than 1000 regulated genes. Three genes were investigated in more detail. The PTH/PTHrP receptor (PTHR1) and ephrin B1 (EfnB1) were down‐regulated, and vascular cell adhesion molecule‐1 (VCAM‐1) was up‐regulated with JunB over‐expression. JunB siRNA transfectants had increased PTHR1, but reduced ephrin B1 and unaltered VCAM‐1 in vitro. To validate these targets, parental OCCM cells and primary osteoblasts were treated with PTHrP, resulting in reduced PTHR1 and ephrin B1, and increased VCAM‐1. Cell transfectants were implanted subcutaneously in vivo, and microarray analysis and RT‐PCR performed. Over‐expression of JunB down‐regulated PTHR1 and ephrin B1, and increased VCAM‐1. JunB siRNA transfectant implants had increased PTHR1 and ephrin B1, but no altered VCAM‐1. These data highlight new gene targets for PTHrP and indicate JunB is a critical mediator of PTHrP actions.