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Improving georeferencing accuracy of Very High Resolution satellite imagery using freely available ancillary data at global coverage

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International Journal of Digital Earth 2017年第10期10卷 1055-1069页

作者： Manuel A.Aguilar Abderrahim Nemmaoui Fernando J.Aguilar antonio novelli Andrés García Lorca Department of Engineering University of AlmeríaAlmeríaSpain DICATECh Politecnico di BariBariItaly Department of Geography University of AlmeríaAlmeríaSpain

While impressive direct geolocation accuracies better than 5.0 m CE90(90%of circular error)can be achieved from the last DigitalGlobe’s Very High Resolution(VHR)satellites(***-1 and WorldView-1/2/3/4),it is insufficient for many precise geodetic *** these sensors,the best horizontal geopositioning accuracies(around 0.55 m CE90)can be attained by using third-order 3D rational functions with vendor’s rational polynomial coefficients data refined by a zero-order polynomial adjustment obtained from a small number of very accurate ground control points(GCPs).However,these high-quality GCPs are not always *** this work,two different approaches for improving the initial direct geolocation accuracy of VHR satellite imagery are *** of them are based on the extraction of three-dimensional GCPs from freely available ancillary data at global coverage such as multi-temporal information of Google Earth and the Shuttle Radar Topography Mission 30 m digital elevation *** application of these approaches on WorldView-2 and GeoEye-1 stereo pairs over two different study sites proved to improve the horizontal direct geolocation accuracy values around of 75%.

关键词： Very High Resolution satellite images Google Earth WorldView-2 GeoEye-1 geometric accuracy

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Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature

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World Journal of Hepatology 2020年第2期12卷 64-71页

作者： Mariano Piazzolla Nicola Castellaneta antonio novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo Section of Gastroenterology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Section of Pathology Department of Emergency and Organ TransplantationUniversity of BariBari 70124Italy

BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular ***,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC *** SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal *** and chronic liver diseases with viral,metabolic and autoimmune etiology were *** intra/extra-hepatic bile ducts were demonstrated by magnetic *** biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary *** satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was ***,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in *** variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal *** confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th *** A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field.

关键词： Benign recurrent intrahepatic cholestasis ATP8B1/ABCB11 genes Jaundice Heterozygous variant of ATP8B1 gene(c.1558A>T) Familial inheritance Case report

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Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype:A case report

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World Journal of Medical Genetics 2023年第2期11卷 21-27页

作者： Roberto Franceschi Francesca Rivieri antonio novelli Daniele Ferretti Adriano Anesi Massimo Soffiati Giulia Porretti Evelina Maines Mafalda Mucciolo Giorgio Radetti Department of Pediatrics S.Chiara Hospital of TrentoAPSSTrento 38122Italy Genetic Unit Laboratory of Clinical PathologyDepartment of LaboratoriesAPSSTrento 38122Italy Laboratory of Medical Genetics Ospedale Pediatrico Bambino GesùRome 00165Italy Human Genetics Laboratory Ospedale Pediatrico Bambino GesùRome 00165Italy Department of Pediatrics S.Chiara General HospitalAPSSTrento 38122Italy Department of Radiology S.Chiara General HospitalAPSSTrento 38122Italy Department of Pediatrics General Hospital BolzanoMarienklinikBolzano 39100Italy

BACKGROUND KBG syndrome is likely underdiagnosed because of mild and non-specific features in some affected patients especially before the upper permanent central incisors eruption at about the age of 7-8 *** mosaicisms are usually recognized in the parents only after a typically affected son is diagnosed with KBG *** describe for the first time the mosaicism of a novel variant in a child with a mild KBG *** SUMMARY Our patient presented at 24 mo of age with short stature,hand abnormalities,facial dysmorphism and mild developmental *** hypoplasia and central hypothyroidism were also *** next generation sequencing(NGS)analysis we found a novel deletion in the ANKRD11 gene(c.4880_4893del.),that can be classified as likely pathogenic for the syndrome,with the percentage of mutated allele of 36%.We considered this finding as causative of the mild and non-specific phenotype for KBG syndrome in our patient,as previously reported in adults.A heterozygous variant in HESX1 gene,classified as variant of uncertain significance,but suspected of causing pituitary hypoplasia and hormonal deficiency,was also *** patient started levothyroxine and growth hormone *** The increased use of NGS analysis may expand the phenotypic spectrum of KBG syndrome because it allows genetic diagnosis of somatic mosaicisms also in children.

关键词： ANKRD11 KBG Mosaic HESX1 Child Case report

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