28 research outputs found
Plum pudding random medium model of biological tissue toward remote microscopy from spectroscopic light scattering
Biological tissue has a complex structure and exhibits rich spectroscopic
behavior. There is \emph{no} tissue model up to now able to account for the
observed spectroscopy of tissue light scattering and its anisotropy. Here we
present, \emph{for the first time}, a plum pudding random medium (PPRM) model
for biological tissue which succinctly describes tissue as a superposition of
distinctive scattering structures (plum) embedded inside a fractal continuous
medium of background refractive index fluctuation (pudding). PPRM faithfully
reproduces the wavelength dependence of tissue light scattering and attributes
the "anomalous" trend in the anisotropy to the plum and the powerlaw dependence
of the reduced scattering coefficient to the fractal scattering pudding. Most
importantly, PPRM opens up a novel venue of quantifying the tissue architecture
and microscopic structures on average from macroscopic probing of the bulk with
scattered light alone without tissue excision. We demonstrate this potential by
visualizing the fine microscopic structural alterations in breast tissue
(adipose, glandular, fibrocystic, fibroadenoma, and ductal carcinoma) deduced
from noncontact spectroscopic measurement
Thérapies innovantes et organisation des structures de soins
Comment les Ă©tablissements de santĂ© peuvent-ils sâorganiser pour se mettre en capacitĂ© de proposer une innovation thĂ©rapeutique Ă tous les patients concernĂ©s dĂšs son arrivĂ©e sur le marchĂ©, sans sĂ©lection et dans de bonnes conditions ? Ă partir de lâexpĂ©rience du MyozymeÂź et du SpinrazaÂź, une solution se dessine qui mĂȘle agilitĂ©, flexibilitĂ© et compĂ©tences dĂ©diĂ©es
Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene
International audienc
Rituximab in the Treatment of Refractory Anti-HMGCR Immune-mediated Necrotizing Myopathy
Macroglossia: A potentially severe complication of late-onset Pompe disease
International audienceBackground: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD). Methods: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry. Clinical, functional, and radiological data were collected during periodic follow-up and analyzed retrospectively. These cases were compared with 15 previously reported cases. Results: Five patients, three females and two males, aged 71â88 years, were included in this study. All but one of the patients suffered from symptoms related to macroglossia before the diagnosis of Pompe disease. Three had localized tongue atrophy and one had significant localized tongue hypertrophy which led to glossectomy 10 years before diagnosis. Two patients had severe dysphagia, one of whom underwent gastrostomy for enteral nutritional support. One patient experienced the persistence of numerous sleep apneas despite nocturnal bilevel positive airway pressure (BiPAP) ventilation. All our patients had dysarthria, and two required speech therapy. Four patients had a tongue hypersignal on magnetic resonance imaging (MRI) T1 sequences. Conclusions: Detection of macroglossia should be part of the clinical diagnosis and follow-up of patients with LOPD, with a careful evaluation of its main consequences. Macroglossia can have severe functional impacts on speech, swallowing, and sleep. Whole-body MRI with facial sections may facilitate the early diagnosis of Pompe disease with the âbright tongue signâ