Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.

• Klíčová slova
• children, hypertension, juxtaglomerular cell tumor, kidney, reninoma, spindle cell hemangioendothelioma,
• MeSH
• genetická predispozice k nemoci * MeSH
• hemangiom diagnóza   genetika   patologie   MeSH
• juxtaglomerulární aparát patologie   MeSH
• ledviny metabolismus   patologie   MeSH
• lidé MeSH
• proteiny FANC genetika   MeSH
• RNA-helikasy genetika   MeSH
• zárodečné mutace genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• práce podpořená grantem MeSH
• Názvy látek
• BRIP1 protein, human MeSH Prohlížeč
• proteiny FANC MeSH
• RNA-helikasy MeSH

Memory B cells (MBCs) epitomize the adaptation of the immune system to the environment. We identify two MBC subsets in peripheral blood, CD27dull and CD27bright MBCs, whose frequency changes with age. Heavy chain variable region (VH) usage, somatic mutation frequency replacement-to-silent ratio, and CDR3 property changes, reflecting consecutive selection of highly antigen-specific, low cross-reactive antibody variants, all demonstrate that CD27dull and CD27bright MBCs represent sequential MBC developmental stages, and stringent antigen-driven pressure selects CD27dull into the CD27bright MBC pool. Dynamics of human MBCs are exploited in pregnancy, when 50% of maternal MBCs are lost and CD27dull MBCs transit to the more differentiated CD27bright stage. In the postpartum period, the maternal MBC pool is replenished by the expansion of persistent CD27dull clones. Thus, the stability and flexibility of human B cell memory is ensured by CD27dull MBCs that expand and differentiate in response to change.

• Klíčová slova
• CD27, VH repertoire, aging, germinal center, immunodeficiency, immunological memory, memory B cells, pregnancy, spleen, vaccine,
• MeSH
• antigeny CD27 metabolismus   MeSH
• B-lymfocyty imunologie   MeSH
• dárci tkání MeSH
• dítě MeSH
• dospělí MeSH
• genetická transkripce MeSH
• imunologická paměť * genetika   MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• modely imunologické MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• přesmyk imunoglobulinových tříd genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• somatická hypermutace imunoglobulinových genů genetika   MeSH
• stanovení celkové genové exprese MeSH
• těhotenství MeSH
• variabilní oblast imunoglobulinu genetika   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé středního věku MeSH
• lidé MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• antigeny CD27 MeSH
• variabilní oblast imunoglobulinu MeSH

WNTs are lipid-modified proteins that control multiple functions in development and disease via short- and long-range signaling. However, it is unclear how these hydrophobic molecules spread over long distances in the mammalian brain. Here we show that WNT5A is produced by the choroid plexus (ChP) of the developing hindbrain, but not the telencephalon, in both mouse and human. Since the ChP produces and secretes the cerebrospinal fluid (CSF), we examine the presence of WNT5A in the CSF and find that it is associated with lipoprotein particles rather than exosomes. Moreover, since the CSF flows along the apical surface of hindbrain progenitors not expressing Wnt5a, we examined whether deletion of Wnt5a in the ChP controls their function and find that cerebellar morphogenesis is impaired. Our study thus identifies the CSF as a route and lipoprotein particles as a vehicle for long-range transport of biologically active WNT in the central nervous system.

• MeSH
• biologický transport MeSH
• lidé MeSH
• lipoproteiny mozkomíšní mok   MeSH
• morfogeneze MeSH
• myši inbrední ICR MeSH
• plexus chorioideus metabolismus   MeSH
• protein Wnt 5a genetika   metabolismus   MeSH
• rombencefalon embryologie   metabolismus   MeSH
• signální transdukce MeSH
• zvířata MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• lipoproteiny MeSH
• protein Wnt 5a MeSH
• WNT5A protein, human MeSH Prohlížeč
• Wnt5a protein, mouse MeSH Prohlížeč