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Mutations in <i>MAPKBP1</i> Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Macia, Maxence S.,Halbritter, Jan,Delous, Marion,Bredrup, Cecilie,Gutter, Arthur,Filhol, Emilie,Mellgren, Anne E.C.,Leh, Sabine,Bizet, Albane,Braun, Daniela A.,Gee, Heon Y.,Silbermann, Flora,Henry, Ch University of Chicago Press [etc.] 2017 American journal of human genetics Vol.100 No.2
<P>Nephronophthisis (NPH), an autosomal-recessive tubulointerstitial nephritis, is the most common cause of hereditary end-stage renal disease in the first three decades of life. Since most NPH gene products (NPHP) function at the primary cilium, NPH is classified as a ciliopathy. We identified mutations in a candidate gene in eight individuals from five families presenting late-onset NPH with massive renal fibrosis. This gene encodes MAPKBP1, a poorly characterized scaffolding protein for JNK signaling. Immunofluorescence analyses showed that MAPKBP1 is not present at the primary cilium and that fibroblasts from affected individuals did not display ciliogenesis defects, indicating that MAPKBP1 may represent a new family of NPHP not involved in cilia-associated functions. Instead, MAPKBP1 is recruited to mitotic spindle poles (MSPs) during the early phases of mitosis where it colocalizes with its paralog WDR62, which plays a key role at MSP. Detected mutations compromise recruitment of MAPKBP1 to the MSP and/or its interaction with JNK2 or WDR62. Additionally, we show increased DNA damage response signaling in fibroblasts from affected individuals and upon knockdown of <I>Mapkbp1</I> in murine cell lines, a phenotype previously associated with NPH. In conclusion, we identified mutations in <I>MAPKBP1</I> as a genetic cause of juvenile or late-onset and cilia-independent NPH.</P>
A First Case of Human Trichuriasis from a Roman Lead Coffin in France
Benjamin Dufour,Maxence Segard,Matthieu Le Bailly 대한기생충학열대의학회 2016 The Korean Journal of Parasitology Vol.54 No.5
A paleoparasitological study was carried out on 2 lead coffins recovered from the Roman site of Jaunay-Clan (near Poitiers, France). For the first time, this particular type of burial gave positive parasitological results, and eggs of the whipworm Trichuris trichiura were identified in 1 individual. In the present case, thanatomorphose associated with funerary practices may explain the scarcity of the recovered eggs. However, human whipworm has now been observed in 9 individuals dated to the Roman period. The very high frequency of Trichuris sp. eggs in Roman archaeological sites (up to 80%) suggests that fecal peril, hygiene, and waste management were problematic during this period. Finally, due to the fact that very few analyses have been conducted on human bodies dated to the Roman period, more analyses must be performed in the future to provide further information about diseases in the Roman world.
Masamichi Kodera,Kosuke Watanabe,Maxence Lassiège,Saman Alavi,Ryo Ohmura 한국공업화학회 2020 Journal of Industrial and Engineering Chemistry Vol.81 No.-
Interfacial tension is one of the most important physical properties for high-precision simulations todevelop the methods of preventing plugging of pipelines in the oil and natural gas industry. This paperreports experimental data with the pendant drop method for the interfacial tension of adecane + methane + water system at temperatures between 278.2 K to 298.2 K and pressures up to10 MPa. The data show that in this temperature range the interfacial tension in the decane + methane+ water system decreases almost linearly with increasing temperature. The results also show that byincreasing the pressure of methane, the interfacial tension decreases from 53.98 mN m 1 to50.23 mN m 1 at 283.2 K and 52.23 mN m 1 to 49.74 mN m 1 at 288.2 K. The nature of the methanepressure dependence of the interfacial tension changes for pressures above around 2.00 MPa. Theinterfacial tension decreases with the pressure up to 2.00 MPa, but has no pressure dependence above2.00 MPa. It may be inferred that the decane/water interface is saturated with methane at pressuresaround 2.00 MPa and at higher pressure the interfacial tension is no longer affected by the presence ofmethane.
Loic Larguier,Adrien-Maxence Hespel,Nathalie Jamet,Elise Mercier,Daniel Jouan,Nicolas Jardel,Sylvain Larrat 대한수의학회 2019 Journal of Veterinary Science Vol.20 No.3
The preoperative contouring of plates decreases the duration of surgery and improves the quality of the reduction of pelvic fractures. Patient-tailored three-dimensionally printed pelvises might be an interesting tool for achieving that purpose. Currently, no study has evaluated the accuracy of measurements performed on three-dimensional printed models in comparison with computed tomography data for complex bones, such as the pelvis. Thisstudy examined whether the measurements obtained on pelvises printed using dual-material fused deposition modeling technology are not significantly different from those obtained on computed tomography images. The computed tomography images of the pelvic region from 10 dogs were used to produce three-dimensionally printed models with a dual-material fused deposition-modeling process. Four segments were measured on both three-dimensionally printed models and computed tomography images. The measurements were performedby three observers and repeated twice. Concordance correlation coefficients were used to assess the precision and accuracy of the measurements as well as evaluate the agreement between the methods. The accuracy of measurements between the methods was > 0.99 for all measurements. The precision was almost perfect for AE (0.996), substantial for BD and BC (0.963 and 0.958, respectively), and moderate for CD (0.912). These results indicate that, despite some minor variations, the measurements performed on printed models reproduced the computed tomography data reliably.
Stress Fracture after Arthroscopic Lesser Trochanter Resection: Diagnosis and Therapy
Baert Matthieu,Vandekerckhove Maxence,Vanlommel Jan 대한고관절학회 2024 Hip and Pelvis Vol.36 No.1
We report on the case of a 52-year-old female who presented with a stress fracture after undergoing an endoscopic resection of the lesser trochanter in ischiofemoral impingement, which was resistant to maximal conservative treatment. To the best of our knowledge, this complication has not been previously described. Non–weight-bearing and intravenous alendronic acid were prescribed for management. No additional surgery was required. The patient was pain free with the ability to perform sports on the same level as before and had no complaints.
Justine Lacroix,Jean-Christophe Daviet,Jean-Yves Salle,Benoit Borel,Maxence Compagnat,Stephane Mandigout 대한재활의학회 2019 Annals of Rehabilitation Medicine Vol.43 No.3
Objective To determine whether post-stroke patient’s perceived exertion correlates with effort intensity score as measured by a wearable sensor and to assess whether estimates of perceived exertion are correlated to the cerebral hemisphere involved in the stroke. Methods We evaluated the effort intensity score during physiotherapy sessions using a wearable sensor and subjects assessed their perceived exertion using the modified Borg CR10 Scale. Results Fifty-seven subacute stroke patients participated in the study. The correlation between perceived exertion rating and measured effort intensity was insignificant—mean (r=-0.04, p=0.78) and peak (r=-0.05, p=0.70). However, there was a significant difference (p<0.02) in the perceived exertion ratings depending on the cerebral hemisphere where the stroke occurred. Patients with left-hand side lesions rated their perceived exertion as 4.5 (min–max, 0.5–8), whereas patients with right-hand side lesions rated their perceived exertion as 5.0 (2–8). Conclusion While there was an insignificant correlation between perceived exertion and effort intensity measured by a wearable sensor, a consistent variations in perceived exertion estimates according to the side of the cerebral lesion was identified and established.
Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum
Loukman Omarjee,Jacques-Olivier Fortrat,Antoine Larralde,Estelle Le Pabic,Gilles Kauffenstein,Maxence Laot,Nastassia Navasiolava,Pierre-Jean Mention,Juan Luis Carrillo Linares,Pedro Valdivielso,Olivie 대한뇌졸중학회 2019 Journal of stroke Vol.21 No.1
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A facile approach to enhance antigen response for personalized cancer vaccination
Li, Aileen Weiwei,Sobral, Miguel C.,Badrinath, Soumya,Choi, Youngjin,Graveline, Amanda,Stafford, Alexander G.,Weaver, James C.,Dellacherie, Maxence O.,Shih, Ting-Yu,Ali, Omar A.,Kim, Jaeyun,Wucherpfen Nature Publishing Group UK 2018 Nature materials Vol.17 No.6
<P>Existing strategies to enhance peptide immunogenicity for cancer vaccination generally require direct peptide alteration, which, beyond practical issues, may impact peptide presentation and result in vaccine variability. Here, we report a simple adsorption approach using polyethyleneimine (PEI) in a mesoporous silica microrod (MSR) vaccine to enhance antigen immunogenicity. The MSR-PEI vaccine significantly enhanced host dendritic cell activation and T-cell response over the existing MSR vaccine and bolus vaccine formulations. Impressively, a single injection of the MSR-PEI vaccine using an E7 peptide completely eradicated large, established TC-1 tumours in about 80% of mice and generated immunological memory. When immunized with a pool of B16F10 or CT26 neoantigens, the MSR-PEI vaccine eradicated established lung metastases, controlled tumour growth and synergized with anti-CTLA4 therapy. Our findings from three independent tumour models suggest that the MSR-PEI vaccine approach may serve as a facile and powerful multi-antigen platform to enable robust personalized cancer vaccination.</P>