Palmino Sacco

18q- syndrome and ectodermal dysplasia syndrome: Description of a child and his family

The 18q‐ syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine‐year‐old boy possessing a simple 18q‐ deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31−qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q‐ deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.

Hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia

We report a 30‐year‐old woman with hypertelorism, ptosis, and myopia associated with drug‐resistant epilepsy (DRE, Lennox–Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.

Polydactyly With Ectodermal Defect, Osteopenia, and Mental Delay

Five members from 3 generations, including a 35-year-old woman and her 2 sons, both mentally impaired to a different degree, were studied in a tertiary care hospital. Anamnestic, clinical, neurological, and radiological evaluations were used to describe phenotypes. A and B postaxial polydactyly, transmitted likely as autosomal dominant, was associated with an extensive variability of phenotypic features: (1) cutaneous syndactyly, (2) nail–teeth dysplasia, (3) osteopenia, and (4) mental delay. The likelihood that the constellation of observations we report here is caused by mutation of a single gene that subsequently affects multiple physiological activities, although fascinating, remains to be proven. Instead, we hypothesize that it likely develops as a contiguous gene syndrome.

Follow-up of endovascular aortic aneurysm repair: Preliminary validation of digital tomosynthesis and contrast enhanced ultrasound in detection of medium- to long-term complications

AIM To validate the feasibility of digital tomosynthesis of the abdomen (DTA) combined with contrast enhanced ultrasound (CEUS) in assessing complications after endovascular aortic aneurysm repair (EVAR) by using computed tomography angiography (CTA) as the gold standard. METHODS For this prospective study we enrolled 163 patients (123 men; mean age, 65.7 years) referred for CTA for EVAR follow-up. CTA, DTA and CEUS were performed at 1 and 12 mo in all patients, with a maximum time interval of 2 d. RESULTS Among 163 patients 33 presented complications at CTA. DTA and CTA correlated for the presence of complications in 32/33 (96.96%) patients and for the absence of complications in 127/130 (97.69%) patients; the sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy of DTA were 97%, 98%, 91%, 99%, and 98%, respectively. CEUS and CTA correlated for the presence of complications in 19/33 (57.57%) patients and for the absence of complications in 129/130 (99.23%) patients; the sensitivity, specificity, PPV, NPV and accuracy of CEUS were 58%, 99%, 95%, 90%, and 91%, respectively. Sensitivity, specificity and accuracy of combining DTA and CEUS together in detecting EVAR complications were 77%, 98% and 95%, respectively. CONCLUSION Combining DTA and CEUS in EVAR follow-up has the potential to limit the use of CTA only in doubtful cases.

CT colonography: Project of High National Interest No. 2005062137 of the Italian Ministry of Education, University and Research (MIUR).

PurposeThe aim of this paper is to describe the Web site of the Italian Project on CT Colonography (Research Project of High National Interest, PRIN No. 2005062137) and present the prototype of the online database.Materials and methodsThe Web site was created with Microsoft Office Publisher 2003 software, which allows the realisation of multiple Web pages linked through a main menu located on the home page. The Web site contains a database of computed tomography (CT) colonography studies in the Digital Imaging and Communications in Medicine (DICOM) standard, all acquired with multidetector-row CT according to the parameters defined by the European Society of Abdominal and Gastrointestinal Radiology (ESGAR). The cases present different bowel-cleansing and tagging methods, and each case has been anonymised and classified according to the Colonography Reporting and Data System (C-RADS).ResultsThe Web site is available at http address www.ctcolonography.org and is composed of eight pages. Download times for a 294-Mbyte file were 33 min from a residential ADSL (6 Mbit/s) network, 200 s from a local university network (100 Mbit/s) and 2 h and 50 min from a remote academic site in the USA. The Web site received 256 accesses in the 22 days since it went online.ConclusionsThe Web site is an immediate and up-to-date tool for publicising the activity of the research project and a valuable learning resource for CT colonography.RiassuntoObiettivoDescrivere il sito web del Progetto Italiano sulla Colonscopia Virtuale (CV), PRIN 2005062137 e, presentare il prototipo del database online.Materiali e metodiIl sito web è stato realizzato con il software Microsoft Office Publisher 2003 che consente la realizzazione di pagine web multiple, tra loro collegate attraverso un menu principale localizzato nella home page. Nel suo interno sono archiviati studi DICOM di CV, acquisiti con apparecchiature multistrato seguendo i parametri di qualità definiti dall’ESGAR; i casi presentano differenti metodi di pulizia intestinale. Tutti sono stati anonimizzati e classificati secondo il sistema C-RADS.RisultatiIl sito è disponibile all’indirizzo www.ctcolonography.org ed è costituito da 8 pagine web. Nelle prove di scaricamento dei dati TC da tecnologia ADSL (6 Mbit/s), un file di 294 Mbytes è stato scaricato in 33 minuti, da rete universitaria (100 Mbit/s) in 200 secondi, da sito remoto accademico negli USA in 2 ore e 50 minuti. Il monitoraggio del numero di accessi in 22 giorni, dal giorno di pubblicazione, ha evidenziato 220 accessi.ConclusioniIl sito web è uno strumento immediato e aggiornato per la divulgazione dell’attività di ricerca progettuale e una risorsa didattica di CV.

Colonscopia virtuale: progetto PRIN (Progetto di Rilevante Interesse Nazionale) del MIUR (Ministero dell'Università e della Ricerca), numero 2005062137

PurposeThe aim of this paper is to describe the Web site of the Italian Project on CT Colonography (Research Project of High National Interest, PRIN No. 2005062137) and present the prototype of the online database.Materials and methodsThe Web site was created with Microsoft Office Publisher 2003 software, which allows the realisation of multiple Web pages linked through a main menu located on the home page. The Web site contains a database of computed tomography (CT) colonography studies in the Digital Imaging and Communications in Medicine (DICOM) standard, all acquired with multidetector-row CT according to the parameters defined by the European Society of Abdominal and Gastrointestinal Radiology (ESGAR). The cases present different bowel-cleansing and tagging methods, and each case has been anonymised and classified according to the Colonography Reporting and Data System (C-RADS).ResultsThe Web site is available at http address www.ctcolonography.org and is composed of eight pages. Download times for a 294-Mbyte file were 33 min from a residential ADSL (6 Mbit/s) network, 200 s from a local university network (100 Mbit/s) and 2 h and 50 min from a remote academic site in the USA. The Web site received 256 accesses in the 22 days since it went online.ConclusionsThe Web site is an immediate and up-to-date tool for publicising the activity of the research project and a valuable learning resource for CT colonography.RiassuntoObiettivoDescrivere il sito web del Progetto Italiano sulla Colonscopia Virtuale (CV), PRIN 2005062137 e, presentare il prototipo del database online.Materiali e metodiIl sito web è stato realizzato con il software Microsoft Office Publisher 2003 che consente la realizzazione di pagine web multiple, tra loro collegate attraverso un menu principale localizzato nella home page. Nel suo interno sono archiviati studi DICOM di CV, acquisiti con apparecchiature multistrato seguendo i parametri di qualità definiti dall’ESGAR; i casi presentano differenti metodi di pulizia intestinale. Tutti sono stati anonimizzati e classificati secondo il sistema C-RADS.RisultatiIl sito è disponibile all’indirizzo www.ctcolonography.org ed è costituito da 8 pagine web. Nelle prove di scaricamento dei dati TC da tecnologia ADSL (6 Mbit/s), un file di 294 Mbytes è stato scaricato in 33 minuti, da rete universitaria (100 Mbit/s) in 200 secondi, da sito remoto accademico negli USA in 2 ore e 50 minuti. Il monitoraggio del numero di accessi in 22 giorni, dal giorno di pubblicazione, ha evidenziato 220 accessi.ConclusioniIl sito web è uno strumento immediato e aggiornato per la divulgazione dell’attività di ricerca progettuale e una risorsa didattica di CV.

CT colonography: Project of High National Interest No. 2005062137 of the Italian Ministry of Education, University and Research (MIUR) RID A-2343-2011

PurposeThe aim of this paper is to describe the Web site of the Italian Project on CT Colonography (Research Project of High National Interest, PRIN No. 2005062137) and present the prototype of the online database.Materials and methodsThe Web site was created with Microsoft Office Publisher 2003 software, which allows the realisation of multiple Web pages linked through a main menu located on the home page. The Web site contains a database of computed tomography (CT) colonography studies in the Digital Imaging and Communications in Medicine (DICOM) standard, all acquired with multidetector-row CT according to the parameters defined by the European Society of Abdominal and Gastrointestinal Radiology (ESGAR). The cases present different bowel-cleansing and tagging methods, and each case has been anonymised and classified according to the Colonography Reporting and Data System (C-RADS).ResultsThe Web site is available at http address www.ctcolonography.org and is composed of eight pages. Download times for a 294-Mbyte file were 33 min from a residential ADSL (6 Mbit/s) network, 200 s from a local university network (100 Mbit/s) and 2 h and 50 min from a remote academic site in the USA. The Web site received 256 accesses in the 22 days since it went online.ConclusionsThe Web site is an immediate and up-to-date tool for publicising the activity of the research project and a valuable learning resource for CT colonography.RiassuntoObiettivoDescrivere il sito web del Progetto Italiano sulla Colonscopia Virtuale (CV), PRIN 2005062137 e, presentare il prototipo del database online.Materiali e metodiIl sito web è stato realizzato con il software Microsoft Office Publisher 2003 che consente la realizzazione di pagine web multiple, tra loro collegate attraverso un menu principale localizzato nella home page. Nel suo interno sono archiviati studi DICOM di CV, acquisiti con apparecchiature multistrato seguendo i parametri di qualità definiti dall’ESGAR; i casi presentano differenti metodi di pulizia intestinale. Tutti sono stati anonimizzati e classificati secondo il sistema C-RADS.RisultatiIl sito è disponibile all’indirizzo www.ctcolonography.org ed è costituito da 8 pagine web. Nelle prove di scaricamento dei dati TC da tecnologia ADSL (6 Mbit/s), un file di 294 Mbytes è stato scaricato in 33 minuti, da rete universitaria (100 Mbit/s) in 200 secondi, da sito remoto accademico negli USA in 2 ore e 50 minuti. Il monitoraggio del numero di accessi in 22 giorni, dal giorno di pubblicazione, ha evidenziato 220 accessi.ConclusioniIl sito web è uno strumento immediato e aggiornato per la divulgazione dell’attività di ricerca progettuale e una risorsa didattica di CV.

CT colonography: Project of High National Interest No. 2005062137 of the Italian Ministry of Education, University and Research (MIUR)@@@Colonscopia virtuale: progetto PRIN (Progetto di Rilevante Interesse Nazionale) del MIUR (Ministero dell’Università e della Ricerca), numero 2005062137

PurposeThe aim of this paper is to describe the Web site of the Italian Project on CT Colonography (Research Project of High National Interest, PRIN No. 2005062137) and present the prototype of the online database.Materials and methodsThe Web site was created with Microsoft Office Publisher 2003 software, which allows the realisation of multiple Web pages linked through a main menu located on the home page. The Web site contains a database of computed tomography (CT) colonography studies in the Digital Imaging and Communications in Medicine (DICOM) standard, all acquired with multidetector-row CT according to the parameters defined by the European Society of Abdominal and Gastrointestinal Radiology (ESGAR). The cases present different bowel-cleansing and tagging methods, and each case has been anonymised and classified according to the Colonography Reporting and Data System (C-RADS).ResultsThe Web site is available at http address www.ctcolonography.org and is composed of eight pages. Download times for a 294-Mbyte file were 33 min from a residential ADSL (6 Mbit/s) network, 200 s from a local university network (100 Mbit/s) and 2 h and 50 min from a remote academic site in the USA. The Web site received 256 accesses in the 22 days since it went online.ConclusionsThe Web site is an immediate and up-to-date tool for publicising the activity of the research project and a valuable learning resource for CT colonography.RiassuntoObiettivoDescrivere il sito web del Progetto Italiano sulla Colonscopia Virtuale (CV), PRIN 2005062137 e, presentare il prototipo del database online.Materiali e metodiIl sito web è stato realizzato con il software Microsoft Office Publisher 2003 che consente la realizzazione di pagine web multiple, tra loro collegate attraverso un menu principale localizzato nella home page. Nel suo interno sono archiviati studi DICOM di CV, acquisiti con apparecchiature multistrato seguendo i parametri di qualità definiti dall’ESGAR; i casi presentano differenti metodi di pulizia intestinale. Tutti sono stati anonimizzati e classificati secondo il sistema C-RADS.RisultatiIl sito è disponibile all’indirizzo www.ctcolonography.org ed è costituito da 8 pagine web. Nelle prove di scaricamento dei dati TC da tecnologia ADSL (6 Mbit/s), un file di 294 Mbytes è stato scaricato in 33 minuti, da rete universitaria (100 Mbit/s) in 200 secondi, da sito remoto accademico negli USA in 2 ore e 50 minuti. Il monitoraggio del numero di accessi in 22 giorni, dal giorno di pubblicazione, ha evidenziato 220 accessi.ConclusioniIl sito web è uno strumento immediato e aggiornato per la divulgazione dell’attività di ricerca progettuale e una risorsa didattica di CV.

Posterior knee pain: primary symptom of a small non-occlusive venous clot

A healthy 9 year old girl presented with severe posterior knee pain and a small segmental non-occlusive popliteal venous thrombosis. The case is relevant for its unique presentation and symptoms. Lack of recanalisation persisted at one year follow up.