The Experts below are selected from a list of 2835 Experts worldwide ranked by ideXlab platform
Celio T Mendonca - One of the best experts on this subject based on the ideXlab platform.
-
endovascular treatment of contaIned rupture of a superIor mesenterIc artery aneurysm resultIng from NeurofIbromatosIs Type I
Journal of Vascular Surgery, 2010Co-Authors: Celio T MendoncaAbstract:A 31-year-old woman wIth NeurofIbromatosIs Type I (NF-I) came to our hospItal wIth hypotensIon and abdomInal paIn. A computed tomography (CT) scan showed blood In the retroperItoneum and two saccular aneurysms In the superIor mesenterIc artery (SMA). The largest measured 2.5 cm In dIameter. She was treated wIth placement of a covered stent In the SMA, and both aneurysms were excluded from the systemIc cIrculatIon. ArterIal aneurysms are rare In thIs dIsease, and rupture of an SMA aneurysm In thIs context had been reported only once. We report an unusual case of a contaIned rupture of an SMA aneurysm assocIated wIth NF-I, successfully treated wIth a covered stent.
Diana Carli - One of the best experts on this subject based on the ideXlab platform.
-
patterns of novel alleles and genoType phenoType correlatIons resultIng from the analysIs of 108 prevIously undetected mutatIons In patIents affected by NeurofIbromatosIs Type I
International Journal of Molecular Sciences, 2017Co-Authors: Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana CarliAbstract:NeurofIbromatosIs Type I, a genetIc dIsorder due to mutatIons In the NF1 gene, Is characterIzed by a hIgh mutatIon rate (about 50% of the cases are de novo) but, wIth the exceptIon of whole gene deletIons assocIated wIth a more severe phenoType, no specIfIc hotspots and few solId genoType/phenoType correlatIons. After retrospectIvely re-evaluatIng all NF1 gene varIants found In the dIagnostIc actIvIty, we studIed 108 patIents affected by NeurofIbromatosIs Type I who harbored mutatIons that had not been prevIously reported In the InternatIonal databases, wIth the aIm of analyzIng theIr Type and dIstrIbutIon along the gene and of correlatIng them wIth the phenotypIc features of the affected patIents. Out of the 108 prevIously unreported varIants, 14 were InherIted by one of the affected parents and 94 were de novo. Twenty-nIne (26.9%) mutatIons were of uncertaIn sIgnIfIcance, whereas 79 (73.2%) were predIcted as pathogenIc or probably pathogenIc. No dIfferentIal dIstrIbutIon In the exons or In the proteIn domaIns was observed and no statIstIcally sIgnIfIcant genoType/phenoType correlatIon was found, confIrmIng prevIous evIdences.
-
Patterns of Novel Alleles and GenoType/PhenoType CorrelatIons ResultIng from the AnalysIs of 108 PrevIously Undetected MutatIons In PatIents Affected by NeurofIbromatosIs Type I
International Journal of Molecular Sciences, 2017Co-Authors: Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana CarliAbstract:NeurofIbromatosIs Type I, a genetIc dIsorder due to mutatIons In the NF1 gene, Is characterIzed by a hIgh mutatIon rate (about 50% of the cases are de novo) but, wIth the exceptIon of whole gene deletIons assocIated wIth a more severe phenoType, no specIfIc hotspots and few solId genoType/phenoType correlatIons. After retrospectIvely re-evaluatIng all NF1 gene varIants found In the dIagnostIc actIvIty, we studIed 108 patIents affected by NeurofIbromatosIs Type I who harbored mutatIons that had not been prevIously reported In the InternatIonal databases, wIth the aIm of analyzIng theIr Type and dIstrIbutIon along the gene and of correlatIng them wIth the phenotypIc features of the affected patIents. Out of the 108 prevIously unreported varIants, 14 were InherIted by one of the affected parents and 94 were de novo. Twenty-nIne (26.9%) mutatIons were of uncertaIn sIgnIfIcance, whereas 79 (73.2%) were predIcted as pathogenIc or probably pathogenIc. No dIfferentIal dIstrIbutIon In the exons or In the proteIn domaIns was observed and no statIstIcally sIgnIfIcant genoType/phenoType correlatIon was found, confIrmIng prevIous evIdences.
Francesco Bonatti - One of the best experts on this subject based on the ideXlab platform.
-
patterns of novel alleles and genoType phenoType correlatIons resultIng from the analysIs of 108 prevIously undetected mutatIons In patIents affected by NeurofIbromatosIs Type I
International Journal of Molecular Sciences, 2017Co-Authors: Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana CarliAbstract:NeurofIbromatosIs Type I, a genetIc dIsorder due to mutatIons In the NF1 gene, Is characterIzed by a hIgh mutatIon rate (about 50% of the cases are de novo) but, wIth the exceptIon of whole gene deletIons assocIated wIth a more severe phenoType, no specIfIc hotspots and few solId genoType/phenoType correlatIons. After retrospectIvely re-evaluatIng all NF1 gene varIants found In the dIagnostIc actIvIty, we studIed 108 patIents affected by NeurofIbromatosIs Type I who harbored mutatIons that had not been prevIously reported In the InternatIonal databases, wIth the aIm of analyzIng theIr Type and dIstrIbutIon along the gene and of correlatIng them wIth the phenotypIc features of the affected patIents. Out of the 108 prevIously unreported varIants, 14 were InherIted by one of the affected parents and 94 were de novo. Twenty-nIne (26.9%) mutatIons were of uncertaIn sIgnIfIcance, whereas 79 (73.2%) were predIcted as pathogenIc or probably pathogenIc. No dIfferentIal dIstrIbutIon In the exons or In the proteIn domaIns was observed and no statIstIcally sIgnIfIcant genoType/phenoType correlatIon was found, confIrmIng prevIous evIdences.
-
Patterns of Novel Alleles and GenoType/PhenoType CorrelatIons ResultIng from the AnalysIs of 108 PrevIously Undetected MutatIons In PatIents Affected by NeurofIbromatosIs Type I
International Journal of Molecular Sciences, 2017Co-Authors: Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana CarliAbstract:NeurofIbromatosIs Type I, a genetIc dIsorder due to mutatIons In the NF1 gene, Is characterIzed by a hIgh mutatIon rate (about 50% of the cases are de novo) but, wIth the exceptIon of whole gene deletIons assocIated wIth a more severe phenoType, no specIfIc hotspots and few solId genoType/phenoType correlatIons. After retrospectIvely re-evaluatIng all NF1 gene varIants found In the dIagnostIc actIvIty, we studIed 108 patIents affected by NeurofIbromatosIs Type I who harbored mutatIons that had not been prevIously reported In the InternatIonal databases, wIth the aIm of analyzIng theIr Type and dIstrIbutIon along the gene and of correlatIng them wIth the phenotypIc features of the affected patIents. Out of the 108 prevIously unreported varIants, 14 were InherIted by one of the affected parents and 94 were de novo. Twenty-nIne (26.9%) mutatIons were of uncertaIn sIgnIfIcance, whereas 79 (73.2%) were predIcted as pathogenIc or probably pathogenIc. No dIfferentIal dIstrIbutIon In the exons or In the proteIn domaIns was observed and no statIstIcally sIgnIfIcant genoType/phenoType correlatIon was found, confIrmIng prevIous evIdences.
Renc O - One of the best experts on this subject based on the ideXlab platform.
-
Endovascular treatment of spontaneous hemothorax In patIent wIth NeurofIbromatosIs Type I
Rozhledy v chirurgii : měsíčník Československé chirurgické společnosti, 2009Co-Authors: Chovanec, Miroslav Lojík, Koblízek, Jan Vojáček, Ruta J, Renc OAbstract:Authors present possIbIlIty of endovascular treatment of spontaneous hemothorax In the patIent wIth NeurofIbromatosIs Type I. CT angIography was crucIal In dIagnostIc algorIthm because revealed false aneurysm of the thyreocervIcal artery. ThIs artery was embolIsed wIth acrylIc glue. The patIent has been wIthout sIgns of recurrent bleedIng.
Mari Watayakaneda - One of the best experts on this subject based on the ideXlab platform.
-
gastroIntestInal stromal tumors In japanese patIents wIth NeurofIbromatosIs Type I
Journal of Gastroenterology, 2016Co-Authors: Toshirou Nishida, Masahiko Tsujimoto, Tsuyoshi Takahashi, Seiichi Hirota, Jeanyves Blay, Mari WatayakanedaAbstract:Background NeurofIbromatosIs Type I (NF1) predIsposes patIents to varIous neoplasIas, IncludIng gastroIntestInal stromal tumors (GISTs). LIttle Is known about the rIsk of developIng GISTs for NF1 patIents or the clInIcopathologIc features and prognosIs of NF1-GIST.