Although it is well known that myeloproliferative neoplasms occur in younger patients, few large cohorts of such patients have been reported. Thus, our knowledge about circumstances of diagnosis, outcome and treatment is limited, especially for children and young adults. We therefore performed a systematic review of cases, published since 2005, concerning patients aged below 20 years at the time of diagnosis of essential thrombocythemia or polycythemia vera. We identified 396 cases of essential thrombocythemia and 75 of polycythemia vera. The median age at diagnosis was 9.3 and 12 years, respectively, and females constituted 57.6% and 45% of the groups, respectively. Half of the patients were asymptomatic at diagnosis. The proportion of so-called triple negativity was high: 57% in essential thrombocythemia and 73% in polycythemia vera. The incidence of thrombosis during the follow-up was 9.3% in patients with polycythemia vera and less, 3.8%, in those with essential thrombocythemia. Venous events were predominant (84.2%), with hemorrhagic episodes being rarer (<5%). The risk of evolution also seemed low (2% to myelofibrosis and no reports of acute leukemia), but the median follow-up was only 50 months. Survival curves were not available. Half of the patients received an antithrombotic drug and 40.5% received a cytoreductive drug. All data should be analyzed with care because of the proportion of missing data (10.7% to 74.7%). This review highlights interesting points concerning this population of young patients with myeloproliferative neoplasms, including that such patients were identified as negative for all common driver mutations, but also shows the need for larger contemporary cohorts with longer follow-up to assess the true prognosis of these patients.

• MeSH
• asymptomatické nemoci MeSH
• časná diagnóza MeSH
• cytotoxiny terapeutické užití   MeSH
• dítě MeSH
• esenciální trombocytemie diagnóza   farmakoterapie   genetika   patologie   MeSH
• exprese genu MeSH
• fibrinolytika terapeutické užití   MeSH
• Janus kinasa 1 genetika   MeSH
• Janus kinasa 2 genetika   MeSH
• krvácení diagnóza   farmakoterapie   genetika   patologie   MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mutace MeSH
• polycythaemia vera diagnóza   farmakoterapie   genetika   patologie   MeSH
• prognóza MeSH
• splenomegalie diagnóza   farmakoterapie   genetika   patologie   MeSH
• trombóza diagnóza   farmakoterapie   genetika   patologie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• Publikační typ
• časopisecké články MeSH
• systematický přehled MeSH
• Názvy látek
• cytotoxiny MeSH
• fibrinolytika MeSH
• JAK1 protein, human MeSH Prohlížeč
• JAK2 protein, human MeSH Prohlížeč
• Janus kinasa 1 MeSH
• Janus kinasa 2 MeSH

Symptoms of human leishmaniasis range from subclinical to extensive systemic disease with splenomegaly, hepatomegaly, skin lesions, anemia and hyperglobulinemia, but the basis of this variation is unknown. Association of progression of the disease with Th2 lymphocyte response was reported in mice but not in humans. As most genetic studies in Leishmania major (L. major)-infected mice were restricted to skin lesions, we analyzed the symptomatology of leishmaniasis in mice by monitoring skin lesions, hepatomegaly, splenomegaly and seven immunological parameters. We detected and mapped 17 Leishmania major response (Lmr) gene loci that control the symptoms of infection. Surprisingly, the individual Lmr loci control 13 different combinations of pathological and immunological symptoms. Seven loci control both pathological and immunological parameters, 10 influence immunological parameters only. Moreover, the genetics of clinical symptoms is also very heterogeneous: loci Lmr13 and Lmr4 determine skin lesions only, Lmr5 and Lmr10 skin lesions and splenomegaly, Lmr14 and Lmr3 splenomegaly and hepatomegaly, Lmr3 (weakly) skin lesions, and Lmr15 hepatomegaly only. Only two immunological parameters, IgE and interferon-gamma serum levels, correlate partly with clinical manifestations. These findings extend the paradigm for the genetics of host response to infection to include numerous genes, each controlling a different set of organ-specific and systemic effects.

• MeSH
• chromozomy genetika   MeSH
• genetická predispozice k nemoci * MeSH
• hepatomegalie genetika   patologie   MeSH
• imunoglobulin E krev   MeSH
• inbrední kmeny myší MeSH
• interferon gama krev   MeSH
• kůže patologie   MeSH
• Leishmania major imunologie   MeSH
• leishmanióza genetika   imunologie   patologie   MeSH
• mapování chromozomů MeSH
• myši MeSH
• splenomegalie genetika   patologie   MeSH
• zvířata MeSH
• Check Tag
• myši MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• imunoglobulin E MeSH
• interferon gama MeSH

Using the genetic model of Prague recombinant congenic lines of chickens we found that incompatibility in the B-G region of the major histocompatibility complex (MHC) causes very severe graft-versus-host reaction (GVHR)-associated haemolytic anaemia in newly hatched chickens. Unexpectedly, mild or no signs of this GVH disease are elicited when a recipient chick and an adult donor of lymphocytes are incompatible in the whole B haplotype (B-F/L + B-G regions). On the other hand, the B-G region incompatibility alone (as has been described previously) is not sufficient to produce any GVH splenomegaly in embryos at 14 days of incubation. However, GVH splenomegaly in the donor-recipient combinations with the difference in the whole B haplotype (B-F/L + B-G regions) is significantly greater than in those with the B-F/L region difference only. These results confirm that the B-G region genes of chicken MHC are also involved in the histocompatibility reactions. Furthermore, a new hypothetical model for the structure of the chicken MHC is discussed.

• MeSH
• autoimunitní hemolytická anemie genetika   MeSH
• haplotypy MeSH
• hlavní histokompatibilní komplex * MeSH
• kur domácí MeSH
• kuřecí embryo MeSH
• nemoc štěpu proti hostiteli genetika   MeSH
• rekombinace genetická MeSH
• splenomegalie genetika   MeSH
• testování histokompatibility MeSH
• zvířata MeSH
• Check Tag
• kuřecí embryo MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH

• MeSH
• adjuvancia imunologická MeSH
• Brucella abortus imunologie   MeSH
• dominantní geny MeSH
• extrachromozomální dědičnost MeSH
• hybridizace genetická MeSH
• myši MeSH
• sexuální faktory MeSH
• slezina MeSH
• splenomegalie genetika   imunologie   patofyziologie   MeSH
• tvorba protilátek MeSH
• velikost orgánu MeSH
• zvířata MeSH
• Check Tag
• mužské pohlaví MeSH
• myši MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• adjuvancia imunologická MeSH