English Journal Articles: Recent submissions
Now showing items 1-20 of 52
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Berkjuskúlk – yfirlitBerkjuskúlk er sjúkdómur þar sem berkjur verða óeðlilega víðar og um er að ræða viðvarandi ástand. Þetta getur verið staðbundið eða dreift um bæði lungu. Sjúkdómurinn kemur á öllum aldri og veldur hósta með uppgangi og endurteknum sýkingum. Tíðni er hærri hjá konum og vex með aldri. Hann einkennist af endurteknum tímabilum þar sem einkenni versna mikið og gerist það oftast vegna sýkinga. Berkjuskúlk getur verið af óþekktum orsökum en getur tengst fjöldamörgum sjúkdómum bæði í lungum og utan þeirra. Sem dæmi um slíka sjúkdóma eru astmi, langvinn lungnateppa og liðagigt auk þess sem brestir í ónæmiskerfi tengjast berkjuskúlki. Þannig er sjúkdómsmynd ólík milli einstaklinga. Greining fæst með tölvusneiðmynd af lungum til viðbótar við klínísk einkenni. Uppvinnsla til að greina aðra sjúkdóma sem hafa tengsl við berkjuskúlk er mikilvæg. Í því sambandi er sögutaka, líkamsskoðun og frekari rannsóknir mikilvægar. Sjúklingar með berkjuskúlk hafa skert heilsutengd lífsgæði og styttar lífslíkur. Meðferð er fólgin í meðferð undirliggjandi sjúkdóma, sýklalyfjum og loftvegahreinsun. Lungnaendurhæfing og reglulegt eftirlit eru einnig mikilvæg. Í þessari grein verður gefið yfirlit um berkjuskúlk sem nýtist mörgum læknum í daglegu starfi því sjúkdómurinn sést víða, bæði hjá heimilislæknum, á sjúkrahúsum og utan sjúkrahúsa.
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Long-term Outcome of Implantable Cardioverter/Defibrillator Lead Failure.This study compares outcomes of a recalled implantable cardioverter/defibrillator lead with a control lead in individuals in Iceland.
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Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.
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T cell receptor gene therapy targeting WT1 prevents acute myeloid leukemia relapse post-transplant.Relapse after allogeneic hematopoietic cell transplantation (HCT) is the leading cause of death in patients with acute myeloid leukemia (AML) entering HCT with poor-risk features1-3. When HCT does produce prolonged relapse-free survival, it commonly reflects graft-versus-leukemia effects mediated by donor T cells reactive with antigens on leukemic cells4. As graft T cells have not been selected for leukemia specificity and frequently recognize proteins expressed by many normal host tissues, graft-versus-leukemia effects are often accompanied by morbidity and mortality from graft-versus-host disease5. Thus, AML relapse risk might be more effectively reduced with T cells expressing receptors (TCRs) that target selected AML antigens6. We therefore isolated a high-affinity Wilms' Tumor Antigen 1-specific TCR (TCRC4) from HLA-A2+ normal donor repertoires, inserted TCRC4 into Epstein-Bar virus-specific donor CD8+ T cells (TTCR-C4) to minimize graft-versus-host disease risk and enhance transferred T cell survival7,8, and infused these cells prophylactically post-HCT into 12 patients ( NCT01640301 ). Relapse-free survival was 100% at a median of 44 months following infusion, while a concurrent comparative group of 88 patients with similar risk AML had 54% relapse-free survival (P = 0.002). TTCR-C4 maintained TCRC4 expression, persisted long-term and were polyfunctional. This strategy appears promising for preventing AML recurrence in individuals at increased risk of post-HCT relapse.
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Anaplastic thyroid carcinoma transformation in a lateral neck node metastasis - A case report and a review of the literatureAnaplastic thyroid carcinoma is thought to be derived from previous existing papillary or follicular thyroid carcinoma that dedifferentiates into its anaplastic counterpart. We present a case where this type of dedifferentiation occurs at a metastatic site in a regional lymph node, years after the primary papillary thyroid tumor had metastasized.
