Showing papers by "Sabine Sarnacki published in 2007"
TL;DR: It is shown, by direct examination of blood monocyte functions in vivo, that a subset of monocytes patrols healthy tissues through long-range crawling on the resting endothelium, which initiated an early immune response and differentiated into macrophages.
Abstract: The cellular immune response to tissue damage and infection requires the recruitment of blood leukocytes. This process is mediated through a classical multistep mechanism, which involves transient rolling on the endothelium and recognition of inflammation followed by extravasation. We have shown, by direct examination of blood monocyte functions in vivo, that a subset of monocytes patrols healthy tissues through long-range crawling on the resting endothelium. This patrolling behavior depended on the integrin LFA-1 and the chemokine receptor CX(3)CR1 and was required for rapid tissue invasion at the site of an infection by this "resident" monocyte population, which initiated an early immune response and differentiated into macrophages.
1,790 citations
TL;DR: Several genes involved in SOA have been recently identified, namely N‐MYC, SOX2, and CHD7 involved in Feingold, anophthalmia‐oesophageal‐genital and CHARGE syndromes respectively, suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group.
Abstract: Oesophageal atresia (OA) and/or tracheo-oesophageal fistula (TOF) are frequent malformations observed in approximately one in 3500 births. OA/TOF can be divided clinically into isolated OA (IOA) and syndromic OA (SOA) when associated with other features, the most frequent being cardiac, limb and vertebral malformations or anal atresia. SOA is observed in 50% of patients and can be subdivided into several causative groups comprising environmental agents, chromosomal disorders, malformative associations (CHARGE syndrome and VATER/VACTERL association), and other multiple congenital anomaly disorders. The observation of chromosomal disorders with SOA, as well as mouse models of OA provide support for the involvement of genetic factors in OA. Yet, epidemiological data (twin and family studies) do not support the major role of genetic factors in the majority of cases of IOA but rather a multifactorial model. However, several genes involved in SOA have been recently identified, namely N-MYC, SOX2, and CHD7 involved in Feingold (MIM 164280), anophthalmia-oesophageal-genital (MIM 600992) and CHARGE syndromes respectively (MIM 214800), suggesting that OA/TOF, at least in their syndromic forms, may be a highly genetically heterogeneous group.
85 citations
TL;DR: Les principales indications sont representees par les biopsies diagnostiques de tumeurs mediastinales, pulmonaires, des masses abdominales retroperitoneales extrarenales, l’exerese des tumeur neuroblastiques abdominales ou thoraciques andl’evaluation des masses residuelles de lymphomes en fin de traitement.
Abstract: Minimally-invasive surgery, or video-assisted surgery, includes laparoscopy, retroperitoneoscopy and thoracoscopy, can be used for diagnosis (biopsies) and treatment (resections) in various malignant solid tumours in children. Potential advantages of MIS techniques include a decreased parietal trauma (cosmetic benefit, bowel adhesions) and less postoperative discomfort (postoperative pain, analgesics requirement, postoperative ileus, length of hospital stay). Main indications of MIS techniques are represented by diagnostic biopsies (mediastinal or lung tumors, retroperitoneal extrarenal masses), resection of the primary tumor in thoracic and abdominal neuroblastic tumors and in post-treatment residual mass in lymphoma.
16 citations
TL;DR: A prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene is reported on.
Abstract: The most frequent cause of ventriculomegaly is spina bifida when associated with Arnold-Chiari type II malformation. We report on a prenatal diagnosis of severe ventriculomegaly in association with spinal dysraphism that was indicative of a Currarino syndrome (CS) due to a c.584delA, p.H195fsX28 truncated mutation within the HLXB9 gene. Physiopathology of the ventriculomegaly is discussed in reference to the fetopathological examination and CS embryopathology. In the present case, prognosis was poor and pregnancy termination was authorized. However, such a decision may be controversial in fetuses with less severe malformations on sonographic examination, since mutations in the HLXB9 gene can predict neither the severity nor the long-term prognosis of the disease. Due to a lack of genotype-phenotype correlation and the broad variability of phenotype in heterozygotes, clinical and genetic investigations among relatives are mandatory in all HLXB9 gene mutation cases, to detect asymptomatic CS cases and to prevent the occurrence of severe complications.
16 citations