Cholelithiase du nouveau -NÉ

BACKGROUND: Cholelithiasis in neonates and infants has been rarely reported, but with the current widespread use of diagnostic abdominal ultrasonography more neonates may be found with gallstones. The clinical situations include symptomless cases with spontaneous resolution and relatively rare cases with serious complications due to choledocholithiasis.AIM: To determine the incidence, spontaneous course and the complications of cholelithiasis in neonates. A review on the various form of cholelithiasis in neonatal age has been also carried out.PATIENTS AND METHODS: Three hundred and thirty nine neonates were screened during 4 months (March - June 2005) by abdominal ultrasound (Aloka SSD-1400, sonde 7,5 MHz). There were 273 physiologic newborns (otherwise healthy newborns with no medical history of factors potentially predisposing to stones) and 66 pathologic neonates (pathologic course of perinatal periode). Abdominal ultrasonography was performed at the first 5 days of life (physiologic newborns) or as soon as possible (pathologic newborns). Neonates with the diagnosis of the echogenic material in the gallbladder were prospectively followed up in 1-month periods until this US finding was present.RESULTS: The presence of the echogenic material in the gallbladder were diagnosed in five physiologic newborns (1,8%, 3 girls and 2 boys). True gallstones with acoustic shadow, sludge-balls and sludge were diagnosed in one, three and one of them, respectively. The presence of the echogenic material in the gallbladder were also found in four pathologic newborns (6,1%, 2 girls and 2 boys). True gallstones, sludge-balls and sludge were diagnosed in two, one and one of them, respectively. No significant sex predominancy were found (5 girls and 4 boys). At follow-up the biliary stones in all five physiologic infants had spontaneously completely resolved at the age of 1 months with no symptoms. In three of four pathologic newborns this findings has reminded in the third month of theirs life. All children were asymptomatic from the biliary system. CONCLUSIONS: The present study suggests that idiopathic neonatal cholelithiasis seems to be more common phenomenon than previously suspected - our research showed an incidence of 0,36% of true gallstones and 1,8% of the presence of echogenic material in the gallbladder in physiologic newborns. There could be the maternal and delivery predisposing factors whose disappear after delivery and so the connatal gallstones often disappear spontaneously. The incidence of “pathologic” neonatal cholelithiasis related to the predisposing factors (prematurity, total parenteral nutrition, neonatal sepsis, dehydratation, furosemid therapy etc.) has been estimated also higher than expected - incidence of 3,0% of true gallstones and 6,1% of the presence of echogenic material in the gallbladder in pathologic newborns. Difference of incidence in physiologic vs. pathologic newborns confirm that predisposing factors plays an important role in the pathogenesis of neonatal cholelithiasis. The most frequent evolution is spontaneous resolution of the biliary echogenic images in absence of clinical manifestations. The complications are rare. Thus we conclude that the incidentally diagnosed neonatal cholelithiasis can be considered as a relatively common phenomenon, with good prognosis and rare complications. If it is asymptomatic, no treatment is needed except for abdominal sonography follow-up until this finding is present. In the symptomatic cases the therapy is to be chosen in each case in accordance with clinical features

Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling

Frank-Ter Haar syndrome (FTHS), Winchester syndrome (WS), and multicentric osteolysis, nodulosis, and arthropathy (MONA) are ultra-rare multisystem disorders characterized by craniofacial malformations, reduced bone density, skeletal and cardiac anomalies, and dermal fibrosis. These autosomal recessive syndromes are caused by homozygous mutation or deletion of respectively SH3PXD2B (SH3 and PX Domains 2B), MMP14 (matrix metalloproteinase 14), or MMP2. Here, we give an overview of the clinical features of 63 previously reported patients with an SH3PXD2B, MMP14, or MMP2 mutation, demonstrating considerable clinical overlap between FTHS, WS, and MONA. Interestingly, the protein products of SH3PXD2B, MMP14, and MMP2 directly cooperate in collagen remodeling. We review animal models for these three disorders that accurately reflect the major clinical features and likewise show significant phenotypical similarity with each other. Furthermore, they demonstrate that defective collagen remodeling is central in the underlying pathology. As such, we propose a nosological revision, placing these SH3PXD2B, MMP14, and MMP2 related syndromes in a novel “defective collagen-remodelling spectrum (DECORS)”. In our opinion, this revised nosology better reflects the central role for impaired collagen remodeling, a potential target for pharmaceutical intervention

Velocity asymmetry of Dzyaloshinskii domain walls in the creep and flow regimes

International audienceWe have carried out measurements of domain wall dynamics in a Pt/Co/GdOx(t) wedge sample with perpendicular magnetic anisotropy. When driven by an easy-axis field Hz in the presence of an in-plane field Hx, the domain wall expansion along x is anisotropic, as expected for samples presenting Dzyaloshinskii-Moriya interaction. In the creep regime, the sign and the value of the domain wall velocity asymmetry changes along the wedge. We show that in our samples the domain wall speed vs. Hx curves in the creep regime cannot be explained simply in terms of the variation of the domain wall energy with Hx, as suggested by previous works. For this reason the strength and the sign of the Dzyaloshinskii-Moriya interaction (DMI) cannot be extracted from these measurements. To obtain reliable information on the DMI strength using magnetic field-induced domain wall dynamics, measurements have been performed with high fields, bringing the DW close to the flow regime of propagation. In this case, the large values of DMI are coherent with those obtained from current-driven domain wall dynamics