Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene

Upshaw–Schulman syndrome (USS) is due to severe congenital deficiency of von Willebrand factor (VWF)‐cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26‐year‐old man, had attacks of thrombotic thrombocytopenic purpura (TTP) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had ADAMTS13 activity of <1% of normal plasma without the presence of inhibitors of ADAMTS13. ADAMTS13 deficiency was caused by two new mutations of the ADAMTS13 gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift (K681C fs X16), and a missense mutation in exon 25 (c.3368G>A) leading to p.R1123H. This case report confirms the importance of the analysis of the ADAMTS13 activity and its inhibitor in patients who have episodes of TTP, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis.     

The Preoperative Sexual Functioning and Quality of Sexual Life in Colorectal Cancer: A Study among Patients and Their Partners

IntroductionEven though the body of literature on sexual functioning is growing, information on the preoperative sexual functioning and the quality of sexual life after colorectal cancer is lacking. Research focusing on female patients and on partners is also rather scarce.AimThis cross‐sectional study aimed to describe the preoperative sexual functioning, quality of sexual life, and relationship functioning for male and female colorectal cancer patients and their partners. In addition, the mean scores of the patients and partners were compared with mean norm scores.MethodsPatients diagnosed with colorectal cancer (N = 136) and their partners (N = 106) were recruited before surgical treatment in six Dutch hospitals.Main Outcome MeasuresMen completed the International Index of Erectile Functioning, while women completed the Female Sexual Function Index. All partnered participants completed the Golombok‐Rust Inventory of Sexual Satisfaction and the Maudsley Marital Questionnaire. The mean scores were compared with mean norm scores derived from the manuals of the questionnaires.ResultsAll participants were in a heterosexual relationship. Female patients reported a lower quality of sexual life compared with male patients. Male partners reported a lower sexual functioning and a lower quality of sexual life compared with male patients. Colorectal cancer patients and partners (both sexes) reported a lower sexual functioning and a lower quality of sexual life compared with norm populations but scored similar on relationship functioning.ConclusionA lower sexual functioning and a lower quality of sexual life are already reported preoperatively; however, relationship functioning was comparable with a norm population. Therefore, all the impairment seen after treatment should not be solely attributed to the effects of treatment. Traa MJ, De Vries J, Roukema JA, and Den Oudsten BL. The preoperative sexual functioning and quality of sexual life in colorectal cancer: A study among patients and their partners. J Sex Med 2012;9:3247–3254.     

Rolle,Arbeitsweise und Empfehlungen der Ständigen Impfkommission (STIKO) im Kontext der COVID-19-Pandemie

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Die Ständige Impfkommission (STIKO) ist ein ehrenamtliches Gremium, dessen 18&nbsp;ExpertInnen vom Bundesministerium...     

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout

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A three‐dimensional skin equivalent reflecting some aspects of in vivo aged skin

Human skin undergoes morphological, biochemical and functional modifications during the ageing process. This study was designed to produce a 3‐dimensional (3D) skin equivalent in vitro reflecting some aspects of in vivo aged skin. Reconstructed skin was generated by co‐culturing skin fibroblasts and keratinocytes on a collagen–glycosaminoglycan–chitosan scaffold, and ageing was induced by the exposition of fibroblasts to Mitomycin‐C (MMC). Recently published data showed that MMC treatment resulted in a drug‐induced accelerated senescence (DIAS) in human dermal fibroblast cultures. Next to established ageing markers, histological changes were analysed in comparison with in vivo aged skin. In aged epidermis, the filaggrin expression is reduced in vivo and in vitro. Furthermore, in dermal tissue, the amount of elastin and collagen is lowered in aged skin in vivo as well as after the treatment of 3D skin equivalents with MMC in vitro. Our results show histological signs and some aspects of ageing in a 3D skin equivalent in vitro, which mimics aged skin in vivo.     

An evaluation of two conducted electrical weapons and two probe designs using a swine comparative cardiac safety model

Despite human laboratory and field studies that have demonstrated a reasonable safety profile for TASER brand conducted electrical weapons (CEW), the results of some swine studies and arrest related deaths temporal to the use of the CEWs continue to raise questions regarding cardiac safety. TASER International, Inc., has released a new CEW, the TASER X2, touted to have a better safety profile than its long-standing predecessor, the TASER X26. We have developed a model to assess the relative cardiac safety of CEWs and used it to compare the TASER X2 and the TASER X26. This safety model was also used to assess the relative safety of an experimental probe design as compared to the standard steel probe. Our results suggest that the TASER X2 has an improved safety margin over the TASER X26. The new probe design also has promise for enhanced cardiac safety, although may have some disadvantages when compared to the existing design which would make field use impractical.