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1.
Br J Haematol ; 204(2): 683-693, 2024 02.
Artículo en Inglés | MEDLINE | ID: mdl-37779259

RESUMEN

Poikiloderma with neutropenia (PN) Clericuzio type (OMIM #604173) is a rare disease with areas of skin hyper- and hypopigmentation caused by biallelic USB1 variants. The current study was spurred by poor healing of a perianal tear wound in one affected child homozygous for c.266-1G>A (p.E90Sfster8) mutation, from a family reported previously. Treatment with G-CSF/CSF3 or GM-CSF/CSF2 transiently increased neutrophil/monocytes count with no effect on wound healing. Analysis of peripheral blood revealed a lack of non-classical (CD14+/- CD16+ ) monocytes, associated with a systemic inflammatory cytokine profile, in the two affected brothers. Importantly, despite normal expression of cognate receptors, monocytes from PN patients did not respond to M-CSF or IL-34 in vitro, as determined by cytokine secretion or CD16 expression. RNAseq of monocytes showed 293 differentially expressed genes, including significant downregulation of GATA2, AKAP6 and PDE4DIP that are associated with leucocyte differentiation and cyclic adenosine monophosphate (cAMP) signalling. Notably, the plasma cAMP was significantly low in the PN patients. Our study revealed a novel association of PN with a lack of non-classical monocyte population. The defects in monocyte plasticity may contribute to disease manifestations in PN and a defective cAMP signalling may be the primary effect of the splicing errors caused by USB1 mutation.


Asunto(s)
Neutropenia , Anomalías Cutáneas , Masculino , Niño , Humanos , Monocitos/metabolismo , Anomalías Cutáneas/genética , Anomalías Cutáneas/metabolismo , Neutropenia/genética , Citocinas , Receptores de IgG , Hidrolasas Diéster Fosfóricas/genética
2.
Pediatr Emerg Care ; 25(9): 594-6, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19755899

RESUMEN

Tarsometatarsal joint injuries are well described in adults. In children, these injuries have been less described and have been reported only as small case series. They frequently go unrecognized in children because of skeletal immaturity and lack of awareness among health care providers. However, these injuries if untreated can result in significant pain and deformity in children. It is important that treating physicians recognize the symptoms and signs of these injuries and initiate further diagnostic workup, especially when there is persistent foot pain in the absence of radiographic signs of a fracture. We present a case of an 11-month-old female infant who presented with foot pain after a fall.


Asunto(s)
Traumatismos del Tobillo/diagnóstico , Fracturas Óseas/diagnóstico , Articulación Metatarsofalángica/lesiones , Accidentes Domésticos , Traumatismos del Tobillo/cirugía , Diagnóstico Diferencial , Femenino , Estudios de Seguimiento , Fijación de Fractura/métodos , Fracturas Óseas/cirugía , Humanos , Lactante , Imagen por Resonancia Magnética , Articulación Metatarsofalángica/diagnóstico por imagen , Articulación Metatarsofalángica/patología , Radiografía , Férulas (Fijadores)
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