Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.

Background: Variants in RYR1 are associated with the majority of cases of malignant hyperthermia (MH), a form of heat illness pharmacogenetically triggered by general anesthetics, and they have also been associated with exertional heat illness (EHI). CACNA1S has also been implicated in MH. The authors applied a targeted next-generation sequencing approach to identify variants in RYR1 and CACNA1S in a cohort of unrelated patients diagnosed with MH susceptibility.

The role of IL-6, IL-10, TNF-alpha and its receptors TNFR1 and TNFR2 in the local regulatory system of normal and impaired human spermatogenesis.

Problem: To investigate the expression of genes coding for selected cytokines with antagonistic functions (IL-6, IL-10, TNF-alpha) as well as TNF-alpha receptors (TNFR1 and TNFR2) in correct spermatogenesis (normal proliferation), maturation arrest (proliferation inhibited) and testicular tumors (overgrowth).

Method Of Study: Transcription levels of genes coding for IL-6, IL-10, TNF-alpha, TNFR1 and TNFR2 were quantitatively examined using a real-time RT-PCR.

Results: Significantly higher amounts of IL-6 mRNA were observed in testicular tumor samples than in normal spermatogenesis or in some syndromes with maturation arrest (MA at spermatid level or SCOS), while IL-10 gene levels were fairly stable.

Specific Fab fragments recovered by phage display technique recognizing human spermatozoa.

Human hybridoma cell lines are often unstable and loose ability for antibody production. Sometimes, they show low and varying levels of heavy and light chains synthesis. Therefore it is reasonable to preserve generated specificities of light and heavy chains by cloning them to phagemid vector and creating phage display library.

Crem activator isoforms in normal and impaired human spermatogenesis analyzed by real time RT-PCR.

cAMP responsive element modulator (CREM) activator isoforms are involved in mammalian spermatogenesis and spermiogenesis. CREM proteins are highly expressed in postmeiotic germ cells of rodents and primates. Homozygous CREM inactivated mice exhibit round spermatid maturation arrest.

Identification of IL-18RAP mRNA truncated splice variants in human testis and the other human tissues.

IL-18 is a pleiotropic cytokine involved in the regulation of both innate and adaptive immunity. It plays a key role in the autoimmune, inflammatory and infectious diseases. IL-18 acts via a receptor complex that closely resembles that of IL-1, consisting of a ligand binding protein, IL-18Ralpha, and an accessory protein, IL-18RAP (IL-18Rbeta).

Percutaneous trans-coronary-venous transplantation of autologous skeletal myoblasts in the treatment of post-infarction myocardial contractility impairment: the POZNAN trial.

Aims: Several experimental studies and the initial clinical experience have shown that autologous skeletal myoblast transplantation into the area of post-infarction left ventricular injury results in an increase in segmental contractile performance. This phase I clinical trial was designed to assess the feasibility and safety of autologous skeletal myoblast transplantation performed via a percutaneous trans-coronary-venous approach in patients with post-infarction left ventricular dysfunction.

Methods And Results: Ten patients with heart failure and presence of an akinetic or a dyskinetic post-infarction injury with no viable myocardium were included in the study.

[Function of the interleukin-1 gene system in immunomodulation, apoptosis and proliferation in the male gonad].

Spermatogenesis is a phenomenon where two main processes proliferation and apoptosis, meet. Slight changes in their activities could lead to different pathologies, such as fertility disorder (excessive apoptosis) or testicular cancer (overproliferation). The IL-1 gene family includes genes which play important roles in both these processes and consists of IL-1?, IL-1ss, IL-18, the IL-1 receptor antagonist (IL-1RA), two IL-1 receptors (IL-1RI, IL-1RII), the IL-18 receptor (IL-18R?), and the receptor-associated proteins - IL-1RAcP and IL-18Rss.

Autologous skeletal myoblast transplantation for the treatment of postinfarction myocardial injury: phase I clinical study with 12 months of follow-up.

Background: Experimental studies have shown that skeletal myoblast transplantation into an area of postinfarction left ventricular injury results in an increase of segmental contractile performance that could be related to transplanted myoblasts. Initial experience with autologous skeletal myoblast transplantation in patients with postinfarction myocardial injury has also been obtained.

Methods: Patients who survived an acute myocardial infarction and were scheduled to undergo coronary artery bypass grafting were screened by means of dobutamine stress echocardiography and included into the study when no contractility changes within akinetic/dyskinetic segments were observed.

Autologous bone marrow stem cell transplantation in acute myocardial infarction-report of two cases.

The results of numerous experimental and clinical studies evaluating transplantation of bone marrow-derived pluripotential stem cells into the area of postinfarction myocardial injury, including direct myocyte precursors, are very encouraging. We have previously reported our clinical experience with transplantation of autologous skeletal myoblasts in the treatment of postinfarction myocardial injury. Currently, we report on two cases of intracoronary autologous bone marrow - derived CD34+ stem cells transplantation during acute phase of myocardial infarction.

Percutaneous autologous myoblast transplantation in the treatment of post-infarction myocardial contractility impairment--report on two cases.

Numerous animal experimental studies as well as the initial human experience have shown that autologous skeletal myoblast transplantation into area of post-infarction left ventricular injury results in an increase in segmental contractile performance related to contraction of cells differentiated from transplanted myoblasts. We have previously introduced skeletal myoblast transplantation performed at the time of coronary artery bypass grafting. Currently, we report the first two cases in Poland of percutaneous autologous myoblast transplantation in the treatment of post-infarction heart failure.