Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.

PubMed

Johnston, Jennifer J; Lee, Chanjae; Wentzensen, Ingrid M; Parisi, Melissa A; Crenshaw, Molly M; Sapp, Julie C; Gross, Jeffrey M; Wallingford, John B; Biesecker, Leslie G

2017-07-01

Disruption of normal ciliary function results in a range of diseases collectively referred to as ciliopathies. Here we report a child with a phenotype that overlapped with Joubert, oral-facial-digital, and Pallister-Hall syndromes including brain, limb, and craniofacial anomalies. We performed exome-sequence analysis on a proband and both parents, filtered for putative causative variants, and Sanger-verified variants of interest. Identified variants in CLUAP1 were functionally analyzed in a Xenopus system to determine their effect on ciliary function. Two variants in CLUAP1 were identified through exome-sequence analysis, Chr16:g.3558407T>G, c.338T>G, p.(Met113Arg) and Chr16:g.3570011C>T, c.688C>T, p.(Arg230Ter). These variants were rare in the Exome Aggregation Consortium (ExAC) data set of 65,000 individuals (one and two occurrences, respectively). Transfection of mutant CLUAP1 constructs into Xenopus embryos showed reduced protein levels p.(Arg230Ter) and reduced intraflagellar transport p.(Met113Arg). The genetic data show that these variants are present in an affected child, are rare in the population, and result in reduced, but not absent, intraflagellar transport. We conclude that biallelic mutations in CLUAP1 resulted in this novel ciliopathy syndrome in the proband. © 2017 Johnston et al.; Published by Cold Spring Harbor Laboratory Press.

Mutations in CSPP1 lead to classical Joubert syndrome.

PubMed

Akizu, Naiara; Silhavy, Jennifer L; Rosti, Rasim Ozgur; Scott, Eric; Fenstermaker, Ali G; Schroth, Jana; Zaki, Maha S; Sanchez, Henry; Gupta, Neerja; Kabra, Madhulika; Kara, Majdi; Ben-Omran, Tawfeg; Rosti, Basak; Guemez-Gamboa, Alicia; Spencer, Emily; Pan, Roger; Cai, Na; Abdellateef, Mostafa; Gabriel, Stacey; Halbritter, Jan; Hildebrandt, Friedhelm; van Bokhoven, Hans; Gunel, Murat; Gleeson, Joseph G

2014-01-02

Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six individuals affected by classical JSRDs. CSPP1 encodes a protein localized to centrosomes and spindle poles, as well as to the primary cilium. Despite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affected individuals in our cohort presented with kidney disease, and further, screening of a large cohort of individuals with nephronophthisis demonstrated no mutations. CSPP1 is broadly expressed in neural tissue, and its encoded protein localizes to the primary cilium in an in vitro model of human neurogenesis. Here, we show abrogated protein levels and ciliogenesis in affected fibroblasts. Our data thus suggest that CSPP1 is involved in neural-specific functions of primary cilia. Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

PubMed Central

Romani, Marta; Micalizzi, Alessia; Valente, Enza Maria

2013-01-01

Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hypotonia evolving into ataxia, global developmental delay, ocular motor apraxia and breathing dysregulation. These are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton and liver. To date, 21 causative genes have been identified, all encoding for proteins of the primary cilium or its apparatus. This is a subcellular organelle that plays key roles in development and in many cellular functions, making JS part of the expanding family of ciliopathies. There is marked clinical and genetic overlap among distinct ciliopathies, which may co-occur even within families. Such variability is likely explained by an oligogenic model of inheritance, in which mutations, rare variants and polymorphisms at distinct loci interplay to modulate the expressivity of the ciliary phenotype. PMID:23870701

[Joubert's syndrome. Presentation of two adult siblings with favorable evolution].

PubMed

Pascual-Castroviejo, I; Pascual-Pascual, S I

2004-01-01

We present the case of two siblings with Joubert's syndrome. They had breathing problems of unknown origin during the neonatal period. Their evolution has been followed-up from the first years of age until the present. They are now 26 and 22 years old, respectively. Both patients have a "borderline" mental level, are apparently normal, but have had progressive evolution and psychic and motor improvement. They can read, write and use the four operations in mathematics and can work with the computer. Both siblings are working in the familial agriculture, can play football at an elemental level with other young people of their village, and ride a bicycle and motorcycle. Both patients show normal gait and have difficulty running. Their language is normal, although somewhat slow. They perform their personal self-care that includes independent bathing, independent dressing, independent toileting and independent shaving. Their contact with other people is good. They are shy with women. They manage money. They have good social integration. One patient has bilateral strabismus and the other has unilateral ptosis.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

PubMed Central

Ben-Salem, Salma; Al-Shamsi, Aisha M; Gleeson, Joseph G; Ali, Bassam R; Al-Gazali, Lihadh

2014-01-01

Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, recurrent hyperventilation and intellectual disability. Most cases display a broad spectrum of additional features, including polydactyly, retinal dystrophy and renal abnormalities, which define different subtypes of JS-related disorders (JSRDs). To date, 23 genes have been shown to cause JSRDs, and although most of the identified genes encode proteins involved in cilia function or assembly, the molecular mechanisms associated with ciliary signaling remain enigmatic. Arab populations are ethnically diverse with high levels of consanguinity (20–60%) and a high prevalence of AR disorders. In addition, isolated communities with very-high levels of inbreeding and founder mutations are common. In this article, we review the 70 families reported thus far with JS and JSRDs that have been studied at the molecular level from all the Arabic countries and compile the mutations found. We show that JS and the related JSRDs are genetically heterogeneous in Arabs, with 53 mutations in 15 genes. Thirteen of these mutations are potentially founder mutations for the region. PMID:27081510

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).

PubMed

Rosati, Jessica; Altieri, Filomena; Tardivo, Silvia; Turco, Elisa Maria; Goldoni, Marina; Spasari, Iolanda; Ferrari, Daniela; Bernardini, Laura; Lamorte, Giuseppe; Valente, Enza Maria; Vescovi, Angelo Luigi

2018-03-01

Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

PubMed

Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D'Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G; Valente, Enza Maria

2009-02-01

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the "molar tooth sign", a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. (c) 2008 Wiley-Liss, Inc.

MKS3/TMEM67 Mutations Are a Major Cause of COACH Syndrome, a Joubert Syndrome Related Disorder with Liver Involvement

PubMed Central

Brancati, Francesco; Iannicelli, Miriam; Travaglini, Lorena; Mazzotta, Annalisa; Bertini, Enrico; Boltshauser, Eugen; D’Arrigo, Stefano; Emma, Francesco; Fazzi, Elisa; Gallizzi, Romina; Gentile, Mattia; Loncarevic, Damir; Mejaski-Bosnjak, Vlatka; Pantaleoni, Chiara; Rigoli, Luciana; Salpietro, Carmelo D.; Signorini, Sabrina; Stringini, Gilda Rita; Verloes, Alain; Zabloka, Dominika; Dallapiccola, Bruno; Gleeson, Joseph G.; Valente, Enza Maria

2008-01-01

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients present the “molar tooth sign”, a midbrain-hindbrain malformation pathognomonic for Joubert Syndrome (JS) and Related Disorders (JSRDs). The main feature of COACH is congenital hepatic fibrosis (CHF), resulting from malformation of the embryonic ductal plate. CHF is invariably found also in Meckel syndrome (MS), a lethal ciliopathy already found to be allelic with JSRDs at the CEP290 and RPGRIP1L genes. Recently, mutations in the MKS3 gene (approved symbol TMEM67), causative of about 7% MS cases, have been detected in few Meckel-like and pure JS patients. Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). Features such as colobomas and nephronophthisis were found only in a subset of mutated cases. These data confirm COACH as a distinct JSRD subgroup with core features of JS plus CHF, which major gene is MKS3, and further strengthen gene-phenotype correlates in JSRDs. PMID:19058225

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

PubMed Central

Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G

2015-01-01

Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating ciliogenesis as candidates for JS. We analyzed results with a supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, a centriole siRNA screen and the GTex project, identifying 591 likely candidates. Intersection of this data with whole exome results from 145 individuals with unexplained JS identified six families with predominantly compound heterozygous mutations in KIAA0586. A c.428del base deletion in 0.1% of the general population was found in trans with a second mutation in an additional set of 9 of 163 unexplained JS patients. KIAA0586 is an orthologue of chick Talpid3, required for ciliogenesis and Sonic hedgehog signaling. Our results uncover a relatively high frequency cause for JS and contribute a list of candidates for future gene discoveries in ciliopathies. DOI: http://dx.doi.org/10.7554/eLife.06602.001 PMID:26026149

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

PubMed Central

Slaats, Gisela G.; Isabella, Christine R.; Kroes, Hester Y.; Dempsey, Jennifer C.; Gremmels, Hendrik; Monroe, Glen R.; Phelps, Ian G.; Duran, Karen J.; Adkins, Jonathan; Kumar, Sairam A.; Knutzen, Dana M.; Knoers, Nine V.; Mendelsohn, Nancy J.; Neubauer, David; Mastroyianni, Sotiria D.; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A.; Parisi, Melissa A.; Otto, Edgar A.; Johnson, Colin A.; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H.; Doherty, Dan

2016-01-01

Background Joubert syndrome (JS) is a recessive ciliopathy characterized by a distinctive brain malformation “the molar tooth sign”. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. Methods We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1-related JS and in a 3D spheroid rescue assay to test the effects of disease-related MKS1 mutations. Results We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1-related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥1 non-truncating mutation. Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. Conclusions MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalization, is a key mechanism underlying JS, downstream of MKS1 and ARL13B. PMID:26490104

Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.

PubMed

Itoh, Masayuki; Iwasaki, Yuji; Ohno, Kohsaku; Inoue, Takehiko; Hayashi, Masaharu; Ito, Shuichi; Matsuzaka, Tetsuo; Ide, Shuhei; Arima, Masataka

2014-05-01

We have never known any epidemiological study of Arima syndrome since it was first described in 1971. To investigate the number of Arima syndrome patients and clarify the clinical differences between Arima syndrome and Joubert syndrome, we performed the first nationwide survey of Arima syndrome, and herein report its results. Furthermore, we revised the diagnostic criteria for Arima syndrome. As a primary survey, we sent out self-administered questionnaires to most of the Japanese hospitals with a pediatric clinic, and facilities for persons with severe motor and intellectual disabilities, inquiring as to the number of patients having symptoms of Arima syndrome, including severe psychomotor delay, agenesis or hypoplasia of cerebellar vermis, renal dysfunction, visual dysfunction and with or without ptosis-like appearance. Next, as the second survey, we sent out detailed clinical questionnaires to the institutes having patients with two or more typical symptoms. The response rate of the primary survey was 72.7% of hospitals with pediatric clinic, 63.5% of national hospitals and 66.7% of municipal and private facilities. The number of patients with 5 typical symptoms was 13 and that with 2-4 symptoms was 32. The response rate of the secondary survey was 52% (23 patients). After reviewing clinical features of 23 patients, we identified 7 Arima syndrome patients and 16 Joubert syndrome patients. Progressive renal dysfunction was noticed in all Arima syndrome patients, but in 33% of those with Joubert syndrome. It is sometimes difficult to distinguish Arima syndrome from Joubert syndrome. Some clinicians described a patient with Joubert syndrome and its complications of visual dysfunction and renal dysfunction, whose current diagnosis was Arima syndrome. Thus, the diagnosis of the two syndromes may be confused. Here, we revised the diagnostic criteria for Arima syndrome. Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

PubMed

Slaats, Gisela G; Isabella, Christine R; Kroes, Hester Y; Dempsey, Jennifer C; Gremmels, Hendrik; Monroe, Glen R; Phelps, Ian G; Duran, Karen J; Adkins, Jonathan; Kumar, Sairam A; Knutzen, Dana M; Knoers, Nine V; Mendelsohn, Nancy J; Neubauer, David; Mastroyianni, Sotiria D; Vogt, Julie; Worgan, Lisa; Karp, Natalya; Bowdin, Sarah; Glass, Ian A; Parisi, Melissa A; Otto, Edgar A; Johnson, Colin A; Hildebrandt, Friedhelm; van Haaften, Gijs; Giles, Rachel H; Doherty, Dan

2016-01-01

Joubert syndrome (JS) is a recessive ciliopathy characterised by a distinctive brain malformation 'the molar tooth sign'. Mutations in >27 genes cause JS, and mutations in 12 of these genes also cause Meckel-Gruber syndrome (MKS). The goals of this work are to describe the clinical features of MKS1-related JS and determine whether disease causing MKS1 mutations affect cellular phenotypes such as cilium number, length and protein content as potential mechanisms underlying JS. We measured cilium number, length and protein content (ARL13B and INPP5E) by immunofluorescence in fibroblasts from individuals with MKS1-related JS and in a three-dimensional (3D) spheroid rescue assay to test the effects of disease-related MKS1 mutations. We report MKS1 mutations (eight of them previously unreported) in nine individuals with JS. A minority of the individuals with MKS1-related JS have MKS features. In contrast to the truncating mutations associated with MKS, all of the individuals with MKS1-related JS carry ≥ 1 non-truncating mutation. Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. Additionally, MKS1 mutant alleles have similar effects in 3D spheroids. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content, through an ARL13B-dependent mechanism. Mutations in INPP5E also cause JS, so our findings in patient fibroblasts support the notion that loss of INPP5E function, due to either mutation or mislocalisation, is a key mechanism underlying JS, downstream of MKS1 and ARL13B. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

PubMed Central

Doherty, D; Parisi, M A; Finn, L S; Gunay-Aygun, M; Al-Mateen, M; Bates, D; Clericuzio, C; Demir, H; Dorschner, M; van Essen, A J; Gahl, W A; Gentile, M; Gorden, N T; Hikida, A; Knutzen, D; Özyurek, H; Phelps, I; Rosenthal, P; Verloes, A; Weigand, H; Chance, P F; Dobyns, W B; Glass, I A

2011-01-01

Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrain malformation called the molar tooth sign (MTS), making COACH a Joubert syndrome related disorder (JSRD). Methods In a cohort of 251 families with JSRD, 26 subjects in 23 families met criteria for COACH syndrome, defined as JSRD plus clinically apparent liver disease. Diagnostic criteria for JSRD were clinical findings (intellectual impairment, hypotonia, ataxia) plus supportive brain imaging findings (MTS or cerebellar vermis hypoplasia). MKS3/TMEM67 was sequenced in all subjects for whom DNA was available. In COACH subjects without MKS3 mutations, CC2D2A, RPGRIP1L and CEP290 were also sequenced. Results 19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease. Two other families with COACH carried CC2D2A mutations, one family carried RPGRIP1L mutations, and one lacked mutations in MKS3, CC2D2A, RPGRIP1L and CEP290. Liver biopsies from three subjects, each with mutations in one of the three genes, revealed changes within the congenital hepatic fibrosis/ductal plate malformation spectrum. In JSRD with and without liver disease, MKS3 mutations account for 21/232 families (9%). Conclusions Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L; therefore, MKS3 should be the first gene tested in patients with JSRD plus liver disease and/or coloboma, followed by CC2D2A and RPGRIP1L. PMID:19574260

Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

PubMed Central

R, Bachmann-Gagescu; JC, Dempsey; IG, Phelps; BJ, O’Roak; DM, Knutzen; TC, Rue; GE, Ishak; CR, Isabella; N, Gorden; J, Adkins; EA, Boyle; N, de Lacy; D, O’Day; A, Alswaid; AR, Devi; L, Lingappa; C, Lourenço; L, Martorell; À, Garcia-Cazorla; H, Ozyürek; G, Haliloğlu; B, Tuysuz; M, Topçu; P, Chance; MA, Parisi; I, Glass; J, Shendure; D, Doherty

2016-01-01

Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances, and a distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability and genetic heterogeneity. This study provides a comprehensive view of the current genetic basis, phenotypic range and gene-phenotype associations in JS. Methods We sequenced 27 JS-associated genes in 440 affected individuals (375 families) from a cohort of 532 individuals (440 families) with JS, using molecular inversion probe-based targeted capture and next generation sequencing. Variant pathogenicity was defined using the Combined Annotation Dependent Depletion (CADD) algorithm with an optimized score cut-off. Results We identified presumed causal variants in 62% of pedigrees, including the first B9D2 mutations associated with JS. 253 different mutations in 23 genes highlight the extreme genetic heterogeneity of JS. Phenotypic analysis revealed that only 34% of individuals have a “pure JS” phenotype. Retinal disease is present in 30% of individuals, renal disease in 25%, coloboma in 17%, polydactyly in 15%, liver fibrosis in 14% and encephalocele in 8%. Loss of CEP290 function is associated with retinal dystrophy, while loss of TMEM67 function is associated with liver fibrosis and coloboma, but we observe no clear-cut distinction between JS-subtypes. Conclusion This work illustrates how combining advanced sequencing techniques with phenotypic data addresses extreme genetic heterogeneity to provide diagnostic and carrier testing, guide medical monitoring for progressive complications, facilitate interpretation of genome-wide sequencing results in individuals with a variety of phenotypes, and enable gene-specific treatments in the future. PMID:26092869

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

PubMed Central

Stephen, Louise A; Tawamie, Hasan; Davis, Gemma M; Tebbe, Lars; Nürnberg, Peter; Nürnberg, Gudrun; Thiele, Holger; Thoenes, Michaela; Boltshauser, Eugen; Uebe, Steffen; Rompel, Oliver; Reis, André; Ekici, Arif B; McTeir, Lynn; Fraser, Amy M; Hall, Emma A; Mill, Pleasantine; Daudet, Nicolas; Cross, Courtney; Wolfrum, Uwe; Jamra, Rami Abou; Davey, Megan G; Bolz, Hanno J

2015-01-01

Joubert syndrome (JBTS) is a severe recessive neurodevelopmental ciliopathy which can affect several organ systems. Mutations in known JBTS genes account for approximately half of the cases. By homozygosity mapping and whole-exome sequencing, we identified a novel locus, JBTS23, with a homozygous splice site mutation in KIAA0586 (alias TALPID3), a known lethal ciliopathy locus in model organisms. Truncating KIAA0586 mutations were identified in two additional patients with JBTS. One mutation, c.428delG (p.Arg143Lysfs*4), is unexpectedly common in the general population and may be a major contributor to JBTS. We demonstrate KIAA0586 protein localization at the basal body in human and mouse photoreceptors, as is common for JBTS proteins, and also in pericentriolar locations. We show that loss of TALPID3 (KIAA0586) function in animal models causes abnormal tissue polarity, centrosome length and orientation, and centriolar satellites. We propose that JBTS and other ciliopathies may in part result from cell polarity defects. DOI: http://dx.doi.org/10.7554/eLife.08077.001 PMID:26386247

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.

PubMed

Summers, Angela C; Snow, Joseph; Wiggs, Edythe; Liu, Alexander G; Toro, Camilo; Poretti, Andrea; Zein, Wadih M; Brooks, Brian P; Parisi, Melissa A; Inati, Sara; Doherty, Dan; Vemulapalli, Meghana; Mullikin, Jim C; Vilboux, Thierry; Gahl, William A; Gunay-Aygun, Meral

2017-05-12

Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease. On average, participants manifested Full Scale Intelligence Quotients (FSIQ) in the moderately to profoundly low range (M = 64.3 ± 15.3). Of the Wechsler index scores, verbal comprehension was least affected and processing speed was most affected. Receptive language was rated as better than expressive language on the Vineland Adaptive Behavior Scales-Second Edition. Those with abnormal EEG had a significantly lower FSIQ (n = 15; M = 50.7 ± 12.9) compared to participants with normal EEG (n = 39; M = 64.7 ± 16.3; p = .004). Participants taking psychiatric medications manifested a lower FSIQ (n = 20; M = 54.8 ± 13.2) than those not taking them (n = 42; M = 65.0 ± 17.2; p = .022). These correlations were also present in the TMEM67-related JS sub-cohort (n = 14). Based on parental assessment, psychiatric and behavioral problems were significantly more common than in the general population for all measures (p < .004 for all). The majority (65%) of individuals with JS have some degree of intellectual disability. Abnormal EEG is associated with lower neuropsychological function. Processing speed is a weakness, while verbal comprehension and receptive language are relative strengths. These findings may guide parents, teachers, therapists, and doctors to determine appropriate therapies, accommodations, and academic goals

Regulation of ciliary retrograde protein trafficking by the Joubert syndrome proteins ARL13B and INPP5E.

PubMed

Nozaki, Shohei; Katoh, Yohei; Terada, Masaya; Michisaka, Saki; Funabashi, Teruki; Takahashi, Senye; Kontani, Kenji; Nakayama, Kazuhisa

2017-02-01

ARL13B (a small GTPase) and INPP5E (a phosphoinositide 5-phosphatase) are ciliary proteins encoded by causative genes of Joubert syndrome. We here showed, by taking advantage of a visible immunoprecipitation assay, that ARL13B interacts with the IFT46 -: IFT56 (IFT56 is also known as TTC26) dimer of the intraflagellar transport (IFT)-B complex, which mediates anterograde ciliary protein trafficking. However, the ciliary localization of ARL13B was found to be independent of its interaction with IFT-B, but dependent on the ciliary-targeting sequence RVEP in its C-terminal region. ARL13B-knockout cells had shorter cilia than control cells and exhibited aberrant localization of ciliary proteins, including INPP5E. In particular, in ARL13B-knockout cells, the IFT-A and IFT-B complexes accumulated at ciliary tips, and GPR161 (a negative regulator of Hedgehog signaling) could not exit cilia in response to stimulation with Smoothened agonist. This abnormal phenotype was rescued by the exogenous expression of wild-type ARL13B, as well as by its mutant defective in the interaction with IFT-B, but not by its mutants defective in INPP5E binding or in ciliary localization. Thus, ARL13B regulates IFT-A-mediated retrograde protein trafficking within cilia through its interaction with INPP5E. © 2017. Published by The Company of Biologists Ltd.

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

PubMed

Sanjeev, Rama Krishna; Kapoor, Seema; Goyal, Manisha; Kapur, Rajiv; Gleeson, Joseph Gerard

2015-01-01

We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).

PET/CT in a Patient Diagnosed With Dandy-Walker Syndrome.

PubMed

Infante, Jose R; Garcia, Lucia; Rayo, Juan I; Serrano, Justo; Dominguez, Maria L; Moreno, Manuel

2016-01-01

The Dandy-Walker syndrome (DWS) is a rare congenital posterior fossa malformation characterized by aplasia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. We present a 52-year-old Caucasian man diagnosed with gastrointestinal stromal tumor and submitted to 18F-FDG PET/CT as a staging procedure. The patient was previously diagnosed with DWS in brain CT scan. PET/CT images revealed an ametabolic large cyst in the posterior fossa and hypoplasia of cerebellar vermis. The case is presented with the aim to show the appearance of this syndrome on PET/CT study.

CT of the ear in Pendred syndrome.

PubMed

Goldfeld, Moshe; Glaser, Benjamin; Nassir, Elias; Gomori, John Moshe; Hazani, Elitsur; Bishara, Nassir

2005-05-01

To prospectively determine the structural anomalies of the inner ear by using thin-section computed tomography (CT) in an extended family with Pendred syndrome. Ethics committee approved the study, and informed consent was obtained from every patient or from parents of patients under legal age. Twelve patients (three females and nine males aged 7-47 years) with Pendred syndrome (all from the same ethnic isolate and with the same mutation in the PDS gene) were evaluated for inner-ear malformation at thin-section CT. Both ears were evaluated. Presence or absence of interscalar septum between upper and middle turns of the cochlea was evaluated, and vestibule and vestibular aqueduct were examined for enlargement. Modiolus was determined to be present or absent (modiolar deficiency). CT scans were evaluated in consensus by two radiologists (M.G., J.M.G.). All patients had inner ear malformation on both sides. Modiolus was absent and vestibule was enlarged on both sides in all 12 patients. Interscalar septum was absent in 18 (75%) of 24 ears. In eight patients, interscalar septum was absent in both ears, whereas in two patients, it was absent on only one side. Aqueduct was enlarged in 20 (80%) of 24 ears. In nine patients, both ears had enlarged aqueducts, while in two patients, only one side was abnormal. Inner ear malformation is an invariable finding in Pendred syndrome. Modiolus deficiency and vestibular enlargement were the most consistent anomalies in this population with Pendred syndrome. (c) RSNA, 2005.

Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia.

PubMed

Enokizono, Mikako; Aida, Noriko; Niwa, Tetsu; Osaka, Hitoshi; Naruto, Takuya; Kurosawa, Kenji; Ohba, Chihiro; Suzuki, Toshifumi; Saitsu, Hirotomo; Goto, Tomohide; Matsumoto, Naomichi

2017-05-15

Little is known regarding neuroimaging-genotype correlations in Joubert syndrome (JBTS). To elucidate one of these correlations, we investigated the neuroimaging findings of JBTS patients with C5orf42 mutations. Neuroimaging findings in five JBTS patients with C5orf42 mutations were retrospectively assessed with regard to the infratentorial and supratentorial structures on T1-magnetization prepared rapid gradient echo (MPRAGE), T2-weighted images, and color-coded fractional anisotropy (FA) maps; the findings were compared to those in four JBTS patients with mutations in other genes (including three with AHI1 and one with TMEM67 mutations). In C5orf42-mutant patients, the infratentorial magnetic resonance (MR) images showed normal or minimally thickened and minimally elongated superior cerebellar peduncles (SCP), normal or minimally deepened interpeduncular fossa (IF), and mild vermian hypoplasia (VH). However, in other patients, all had severe abnormalities in the SCP and IF, and moderate to marked VH. Supratentorial abnormalities were found in one individual in other JBTS. In JBTS with all mutations, color-coded FA maps showed the absence of decussation of the SCP (DSCP). The morphological neuroimaging findings in C5orf42-mutant JBTS were distinctly mild and made diagnosis difficult. However, the absence of DSCP on color-coded FA maps may facilitate the diagnosis of JBTS. Copyright © 2017 Elsevier B.V. All rights reserved.

Crowned dens syndrome diagnosed on ¹⁸F-FDG PET/CT.

PubMed

Monet, Antoine; Massonnat, Richard; Merino, Bertrand; Riviere, Annalisa; Richez, Christophe

2014-12-01

An 87-year-old woman with corticosteroid-resistant polymyalgia rheumatica underwent ¹⁸F-FDG PET/CT for suspected giant cell arteritis or neoplastic disease. FDG uptake in the immediate vicinity of the odontoid process, with a crownlike calcification, was identified on the CT scan on the posterior side of the dens, thus confirming the diagnosis of crowned dens syndrome. Because this rare syndrome is frequently misdiagnosed, nuclear physicians should be aware of the signs and symptoms of this condition, which may call for the use of PET/CT imagery.

Transnodal lymphangiography and post-CT for protein-losing enteropathy in Noonan syndrome.

PubMed

Matsumoto, Tomohiro; Kudo, Takahiro; Endo, Jun; Hashida, Kazunobu; Tachibana, Nao; Murakoshi, Takatsugu; Hasebe, Terumitsu

2015-01-01

Noonan syndrome, which is a multiple congenital disorder, may be associated with lymphatic abnormalities. Protein-losing enteropathy (PLE) developing in Noonan syndrome is rare. We performed transnodal lymphangiography by directly accessing bilateral inguinal nodes under ultrasound guidance in a 17-year-old female with PLE developing in Noonan syndrome to assess detailed anatomical findings regarding lymphatic vessels. There have been no reports on transnodal lymphangiography for Noonan syndrome. Post-lymphangiographic CT images revealed multiple lymphatic abnormalities and lipiodol extravasation into the duodenum and the proximal jejunum. Transnodal lymphangiography was easy and safe for PLE developing in Noonan syndrome, and post-lymphangiographic CT provided invaluable information.

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

PubMed

De Mori, Roberta; Romani, Marta; D'Arrigo, Stefano; Zaki, Maha S; Lorefice, Elisa; Tardivo, Silvia; Biagini, Tommaso; Stanley, Valentina; Musaev, Damir; Fluss, Joel; Micalizzi, Alessia; Nuovo, Sara; Illi, Barbara; Chiapparini, Luisa; Di Marcotullio, Lucia; Issa, Mahmoud Y; Anello, Danila; Casella, Antonella; Ginevrino, Monia; Leggins, Autumn Sa'na; Roosing, Susanne; Alfonsi, Romina; Rosati, Jessica; Schot, Rachel; Mancini, Grazia Maria Simonetta; Bertini, Enrico; Dobyns, William B; Mazza, Tommaso; Gleeson, Joseph G; Valente, Enza Maria

2017-10-05

The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is mediated by the primary cilium, and genetic defects affecting either SHH pathway members or ciliary proteins cause a spectrum of developmental disorders. SUFU is the main negative regulator of the SHH pathway and is essential during development. Indeed, Sufu knock-out is lethal in mice, and recessive pathogenic variants of this gene have never been reported in humans. Through whole-exome sequencing in subjects with Joubert syndrome, we identified four children from two unrelated families carrying homozygous missense variants in SUFU. The children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. Two siblings also showed polymicrogyria. Molecular dynamics simulation predicted random movements of the mutated residues, with loss of the native enveloping movement of the binding site around its ligand GLI3. Functional studies on cellular models and fibroblasts showed that both variants significantly reduced SUFU stability and its capacity to bind GLI3 and promote its cleavage into the repressor form GLI3R. In turn, this impaired SUFU-mediated repression of the SHH pathway, as shown by altered expression levels of several target genes. We demonstrate that germline hypomorphic variants of SUFU cause deregulation of SHH signaling, resulting in recessive developmental defects of the CNS and limbs which share features with both SHH-related disorders and ciliopathies. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

PubMed Central

Huang, Lijia; Szymanska, Katarzyna; Jensen, Victor L.; Janecke, Andreas R.; Innes, A. Micheil; Davis, Erica E.; Frosk, Patrick; Li, Chunmei; Willer, Jason R.; Chodirker, Bernard N.; Greenberg, Cheryl R.; McLeod, D. Ross; Bernier, Francois P.; Chudley, Albert E.; Müller, Thomas; Shboul, Mohammad; Logan, Clare V.; Loucks, Catrina M.; Beaulieu, Chandree L.; Bowie, Rachel V.; Bell, Sandra M.; Adkins, Jonathan; Zuniga, Freddi I.; Ross, Kevin D.; Wang, Jian; Ban, Matthew R.; Becker, Christian; Nürnberg, Peter; Douglas, Stuart; Craft, Cheryl M.; Akimenko, Marie-Andree; Hegele, Robert A.; Ober, Carole; Utermann, Gerd; Bolz, Hanno J.; Bulman, Dennis E.; Katsanis, Nicholas; Blacque, Oliver E.; Doherty, Dan; Parboosingh, Jillian S.; Leroux, Michel R.; Johnson, Colin A.; Boycott, Kym M.

2011-01-01

Joubert syndrome related disorders (JSRDs) have broad but variable phenotypic overlap with other ciliopathies. The molecular etiology of this overlap is unclear but probably arises from disrupting common functional module components within primary cilia. To identify additional module elements associated with JSRDs, we performed homozygosity mapping followed by next-generation sequencing (NGS) and uncovered mutations in TMEM237 (previously known as ALS2CR4). We show that loss of the mammalian TMEM237, which localizes to the ciliary transition zone (TZ), results in defective ciliogenesis and deregulation of Wnt signaling. Furthermore, disruption of Danio rerio (zebrafish) tmem237 expression produces gastrulation defects consistent with ciliary dysfunction, and Caenorhabditis elegans jbts-14 genetically interacts with nphp-4, encoding another TZ protein, to control basal body-TZ anchoring to the membrane and ciliogenesis. Both mammalian and C. elegans TMEM237/JBTS-14 require RPGRIP1L/MKS5 for proper TZ localization, and we demonstrate additional functional interactions between C. elegans JBTS-14 and MKS-2/TMEM216, MKSR-1/B9D1, and MKSR-2/B9D2. Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes. PMID:22152675

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

PubMed Central

Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L.M.; Letteboer, Stef J.F.; van Beersum, Sylvia E.C.; Mans, Dorus A.; Hikida, Abigail; Eckert, Melissa; Knutzen, Dana; Alswaid, Abdulrahman F.; Özyurek, Hamit; Dibooglu, Sel; Otto, Edgar A.; Liu, Yangfan; Davis, Erica E.; Hutter, Carolyn M.; Bammler, Theo K.; Farin, Frederico M.; Dorschner, Michael; Topçu, Meral; Zackai, Elaine H.; Rosenthal, Phillip; Owens, Kelly N.; Katsanis, Nicholas; Vincent, John B.; Hildebrandt, Friedhelm; Rubel, Edwin W.; Raible, David W.; Knoers, Nine V.A.M.; Chance, Phillip F.; Roepman, Ronald; Moens, Cecilia B.; Glass, Ian A.; Doherty, Dan

2008-01-01

Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. Variable features include retinal dystrophy, cystic kidney disease, and liver fibrosis. JSRD are included in the rapidly expanding group of disorders called ciliopathies, because all six gene products implicated in JSRD (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67, and ARL13B) function in the primary cilium/basal body organelle. By using homozygosity mapping in consanguineous families, we identify loss-of-function mutations in CC2D2A in JSRD patients with and without retinal, kidney, and liver disease. CC2D2A is expressed in all fetal and adult tissues tested. In ciliated cells, we observe localization of recombinant CC2D2A at the basal body and colocalization with CEP290, whose cognate gene is mutated in multiple hereditary ciliopathies. In addition, the proteins can physically interact in vitro, as shown by yeast two-hybrid and GST pull-down experiments. A nonsense mutation in the zebrafish CC2D2A ortholog (sentinel) results in pronephric cysts, a hallmark of ciliary dysfunction analogous to human cystic kidney disease. Knockdown of cep290 function in sentinel fish results in a synergistic pronephric cyst phenotype, revealing a genetic interaction between CC2D2A and CEP290 and implicating CC2D2A in cilium/basal body function. These observations extend the genetic spectrum of JSRD and provide a model system for studying extragenic modifiers in JSRD and other ciliopathies. PMID:18950740

Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome.

PubMed

Ginat, D T; Ferro, L; Gluth, M B

2016-12-01

We describe the temporal bone computed tomography (CT) findings of an unusual case of branchio-oto-renal syndrome with ectopic ossicles that are partially located in the middle cranial fossa. We also describe quantitative temporal bone CT assessment pertaining to cochlear implantation in the setting of anomalous cochlear anatomy associated with this syndrome.

Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.

PubMed

Koyama, Shingo; Sato, Hidenori; Wada, Manabu; Kawanami, Toru; Emi, Mitsuru; Kato, Takeo

2017-03-27

Joubert syndrome and related disorders (JSRD) is a clinically and genetically heterogeneous condition with autosomal recessive or X-linked inheritance, which share a distinctive neuroradiological hallmark, the so-called molar tooth sign. JSRD is classified into six clinical subtypes based on associated variable multiorgan involvement. To date, 21 causative genes have been identified in JSRD, which makes genetic diagnosis difficult. We report here a case of a 28-year-old Japanese woman diagnosed with JS with oculorenal defects with a novel compound heterozygous mutation (p.Ser219*/deletion) in the NPHP1 gene. Whole-exome sequencing (WES) of the patient identified the novel nonsense mutation in an apparently homozygous state. However, it was absent in her mother and heterozygous in her father. A read depth-based copy number variation (CNV) detection algorithm using WES data of the family predicted a large heterozygous deletion mutation in the patient and her mother, which was validated by digital polymerase chain reaction, indicating that the patient was compound heterozygous for the paternal nonsense mutation and the maternal deletion mutation spanning the site of the single nucleotide change. It should be noted that analytical pipelines that focus purely on sequence information cannot distinguish homozygosity from hemizygosity because of its inability to detect large deletions. The ability to detect CNVs in addition to single nucleotide variants and small insertion/deletions makes WES an attractive diagnostic tool for genetically heterogeneous disorders.

Joubert Syndrome

MedlinePlus

... developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored ... developing methods of treatment and prevention. NINDS, in conjunction with the NIH Office of Rare Disorders, sponsored ...

F-18 FDG PET/CT in 26 patients with SAPHO syndrome: a new vision of clinical and bone scintigraphy correlation.

PubMed

Sun, Xiaochuan; Li, Chen; Cao, Yihan; Shi, Ximin; Li, Li; Zhang, Weihong; Wu, Xia; Wu, Nan; Jing, Hongli; Zhang, Wen

2018-05-22

Whole-body bone scintigraphy (WBBS) and MRI are widely used in assessment of patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. However, the value of F-18 fluorodeoxyglucose-positron emission tomography/computed tomography ( 18 F-FDG PET/CT) in SAPHO syndrome was unclear. The aim of this study was to characterize the manifestation of SAPHO syndrome on 18 F-FDG PET/CT and explore its relationship with clinical symptoms and WBBS. Twenty-six patients who suffered from SAPHO syndrome and had undergone whole-body 18 F-FDG PET/CT were recruited in Peking Union Medical College Hospital from 2004 to 2016. Clinical manifestations and laboratory findings were recorded for all patients. Imaging data on 18F-FDG PET/CT and WBBS were collected and analyzed retrospectively. All the 26 patients (20 females and 6 males) exhibited skeletal abnormalities on 18 F-FDG PET/CT. Multiple skeletal lesions affecting the anterior chest wall or spine with low to moderate 18 F-FDG uptake and coexistence of osteolysis and osteosclerosis presented as the typical features of SAPHO syndrome. Sixteen (61.5%) patients had abnormal 18 F-FDG uptake outside the osteoarticular system. PET scan had moderate to substantial agreement with CT and WBBS in revealing lesions in the anterior chest wall and axial skeleton. Nonetheless, the correlation between increased 18 F-FDG uptake and clinical symptoms was weak. SAPHO syndrome exhibits characteristic features on 18 F-FDG PET/CT. It showed comparable capacity in revealing skeletal lesions with bone scintigraphy.

Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident

PubMed Central

2009-01-01

Introduction Gorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management. Case presentation We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries. Conclusion Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases. PMID:20062724

Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident.

PubMed

Kalogeropoulou, Christina; Zampakis, Petros; Kazantzi, Santra; Kraniotis, Pantelis; Mastronikolis, Nicholas S

2009-11-25

Gorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management. We report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries. Radiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.

CT and MRI imaging of the brain in MELAS syndrome.

PubMed

Pauli, Wojciech; Zarzycki, Artur; Krzyształowski, Adam; Walecka, Anna

2013-07-01

MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a rare, multisystem disorder which belongs to a group of mitochondrial metabolic diseases. As other diseases in this group, it is inherited in the maternal line. In this report, we discussed a case of a 10-year-old girl with clinical and radiological picture of MELAS syndrome. We would like to describe characteristic radiological features of MELAS syndrome in CT, MRI and MR spectroscopy of the brain and differential diagnosis. The rarity of this disorder and the complexity of its clinical presentation make MELAS patients among the most difficult to diagnose. Brain imaging studies require a wide differential diagnosis, primarily to distinguish between MELAS and ischemic stroke. Particularly helpful are the MRI and MR spectroscopy techniques.

CT and MRI imaging of the brain in MELAS syndrome

PubMed Central

Pauli, Wojciech; Zarzycki, Artur; Krzyształowski, Adam; Walecka, Anna

2013-01-01

Summary Background: MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) is a rare, multisystem disorder which belongs to a group of mitochondrial metabolic diseases. As other diseases in this group, it is inherited in the maternal line. Case Report: In this report, we discussed a case of a 10-year-old girl with clinical and radiological picture of MELAS syndrome. We would like to describe characteristic radiological features of MELAS syndrome in CT, MRI and MR spectroscopy of the brain and differential diagnosis. Conclusions: The rarity of this disorder and the complexity of its clinical presentation make MELAS patients among the most difficult to diagnose. Brain imaging studies require a wide differential diagnosis, primarily to distinguish between MELAS and ischemic stroke. Particularly helpful are the MRI and MR spectroscopy techniques. PMID:24115962

Confounding of the association between radiation exposure from CT scans and risk of leukemia and brain tumors by cancer susceptibility syndromes.

PubMed

Meulepas, Johanna M; Ronckers, Cécile M; Merks, Johannes; Weijerman, Michel E; Lubin, Jay H; Hauptmann, Michael

2016-12-01

Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of pediatric CT scans. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk. Since empirical evidence is lacking in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about patterns of CT scans among CSS patients. We estimate that radiation-related RRs for leukemia are not meaningfully confounded by Down syndrome, Noonan syndrome and other CSS. Moreover, tuberous sclerosis complex, von Hippel-Lindau disease, neurofibromatosis type 1 and other CSS do not meaningfully confound RRs for brain tumors. Empirical data on the use of CT scans among CSS patients is urgently needed. Our assessment indicates that associations with radiation exposure from pediatric CT scans and leukemia or brain tumors reported in previous studies are unlikely to be substantially confounded by unmeasured CSS.

UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource

ClinicalTrials.gov

2017-09-15

Hepato/Renal Fibrocystic Disease; Autosomal Recessive Polycystic Kidney Disease; Joubert Syndrome; Bardet Biedl Syndrome; Meckel-Gruber Syndrome; Congenital Hepatic Fibrosis; Caroli Syndrome; Oro-Facial-Digital Syndrome Type I; Nephronophthisis; Glomerulocystic Kidney Disease

Clinical and Molecular Investigations Into Ciliopathies

ClinicalTrials.gov

2018-03-27

Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

[(18)F-FDG PET/CT in the evaluation of patients suspected of paraneoplastic neurological syndrome].

PubMed

García Vicente, A M; Vega Caicedo, C H; Mondéjar Solís, R; de Ayala Fernández, J Á; Garrido Robles, J A; Pena Pardo, F J; Muñoz Pasadas, M; Del Saz Saucedo, P; Jiménez Londoño, G A; León Martín, A; Soriano Castrejón, Á

2015-01-01

This study aimed to determine the diagnostic impact of (18)F-FDG PET/CT based on the clinical features of paraneoplastic neurological syndrome (PNS). Multicenter retrospective and longitudinal study of patients with suspicion of PNS. The clinical picture was classified into classic (CS) and non-classic syndrome (NCS). After the follow-up, the definitive or possible diagnosis of PNS was established. The pictures that did not match any of the previous criteria were categorized as non-classifiable. The state of the onco-neural antibodies was studied. The PET/CT was classified as positive or negative for the detection of malignancy. The relationship between PET/CT findings and the final diagnosis was determined. The differences between variables (Pearson test X(2)) and the relationship between the results of the PET/CT and the final diagnosis were analyzed. A total of 64 patients were analyzed, classifying 30% as CS and 42% as NCS. After the follow-up, 20% and 16% of subjects were diagnosed as possible and definitive PNS, respectively. Positive onco-neural antibodies were found in 13% of the patients. A definitive diagnosis of PNS was associated with a positive PET/CT (P=.08). A significant relation between antibodies expression and final diagnosis of neoplasia (P=.04) was demonstrated. The PET/CT correctly localized malignancy in 5/7 cases of invasive cancer. The PET/CT showed a higher percentage of positive results in patients with definitive diagnosis of PNS. Despite the low prevalence of malignancy in our series, the PET/CT detected malignancy in a significant proportion of patients with invasive cancer. Copyright © 2014 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

Somatostatin receptor positron emission tomography/computed tomography (PET/CT) in the evaluation of opsoclonus-myoclonus ataxia syndrome.

PubMed

Joshi, Prathamesh; Lele, Vikram

2013-04-01

Opsoclonus-myoclonus ataxia (OMA) syndrome is the most common paraneoplastic neurological syndrome of childhood, associated with occult neuroblastoma in 20%-50% of all cases. OMA is the initial presentation of neuroblastoma in 1%-3% of children. Conventional radiological imaging approaches include chest radiography and abdominal computed tomography (CT). Nuclear medicine techniques, in form of (123)I/(131)I-metaiodobenzylguanidine (MIBG) scintigraphy have been incorporated in various diagnostic algorithms for evaluation of OMA. We describe use of somatostatin receptor PET/CT with (68)Gallium- DOTA-DPhe(1), Tyr(3)-octreotate (DOTATATE) in diagnosis of neuroblastoma in two cases of OMA.

Confounding of the Association between Radiation Exposure from CT Scans and Risk of Leukemia and Brain Tumors by Cancer Susceptibility Syndromes.

PubMed

Meulepas, Johanna M; Ronckers, Cécile M; Merks, Johannes; Weijerman, Michel E; Lubin, Jay H; Hauptmann, Michael

2016-01-01

Recent studies linking radiation exposure from pediatric computed tomography (CT) to increased risks of leukemia and brain tumors lacked data to control for cancer susceptibility syndromes (CSS). These syndromes might be confounders because they are associated with an increased cancer risk and may increase the likelihood of CT scans performed in children. We identify CSS predisposing to leukemia and brain tumors through a systematic literature search and summarize prevalence and risk estimates. Because there is virtually no empirical evidence in published literature on patterns of CT use for most types of CSS, we estimate confounding bias of relative risks (RR) for categories of radiation exposure based on expert opinion about the current and previous patterns of CT scans among CSS patients. We estimate that radiation-related RRs for leukemia are not meaningfully confounded by Down syndrome, Noonan syndrome, or other CSS. In contrast, RRs for brain tumors may be overestimated due to confounding by tuberous sclerosis complex (TSC) while von Hippel-Lindau disease, neurofibromatosis type 1, or other CSS do not meaningfully confound. Empirical data on the use of CT scans among CSS patients are urgently needed. Our assessment indicates that associations with leukemia reported in previous studies are unlikely to be substantially confounded by unmeasured CSS, whereas brain tumor risks might have been overestimated due to confounding by TSC. Future studies should identify TSC patients in order to avoid overestimation of brain tumor risks due to radiation exposure from CT scans. ©2015 American Association for Cancer Research.

CT correlation with outcomes in 15 patients with acute Middle East respiratory syndrome coronavirus.

PubMed

Das, Karuna M; Lee, Edward Y; Enani, Mushira A; AlJawder, Suhaila E; Singh, Rajvir; Bashir, Salman; Al-Nakshbandi, Nizar; AlDossari, Khalid; Larsson, Sven G

2015-04-01

The purpose of this article is to retrospectively analyze chest CT findings for 15 patients with Middle East respiratory syndrome coronavirus and to identify features associated with survival. Patients were assigned to group 1 if they died (n=9) and to group 2 if they made a full recovery (n=6). Two reviewers scored chest radiographs and CT examinations for segmental involvement, ground-glass opacities, consolidation, and interstitial thickening. Eight patients had ground-glass opacity (53%), five had ground-glass and consolidation in combination (33%), five had pleural effusion (33%), and four patients had interlobular thickening (27%). Of 281 CT findings, 151 (54%) were peripheral, 68 (24%) were central, and 62 (22%) had a mixed location. The number of involved lung segments was higher in group 1. The lower lobe was more commonly involved (mean, 12.2 segments) than in the upper and middle lobes combined (mean, 6.3 segments). The mean number of lung segments involved was 12.3 segments in group 1 and 3.4 segments in group 2. The CT lung score (mean±SD, 15.78±7.9 vs 7.3±5.7, p=0.003), chest radiographic score (20.8±1.7 vs 5.6±5.4; p=0.001), and mechanical ventilation duration (13.11±8.3 vs 0.5±1.2 days; p=0.002) were higher in group 1. All nine group 1 patients and three of six group 2 patients had pleural effusion (p=0.52). CT of patients with Middle East respiratory syndrome coronavirus predominantly showed ground-glass opacities, with peripheral lower lobe preference. Pleural effusion and higher CT lung and chest radiographic scores correlate with poor prognosis and short-term mortality.

CNS changes in Usher's syndrome with mental disorder: CT, MRI and PET findings.

PubMed Central

Koizumi, J; Ofuku, K; Sakuma, K; Shiraishi, H; Iio, M; Nawano, S

1988-01-01

CNS changes in a case of Usher's syndrome associated with schizophrenia-like mental disorder were observed by CT, MRI and PET. The neuro-radiological findings of the case demonstrate the degenerative and metabolic alterations in various regions of cortex, white matter and subcortical areas in the brain. Mental disorder of the case is almost indistinguishable from that of schizophrenia, but the psychotic feature is regarded as an atypical or mixed organic brain syndrome according to the classification in the third edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-III). Images PMID:3264568

Single-Session CT-Guided Percutaneous Microwave Ablation of Bilateral Adrenal Gland Hyperplasia Due to Ectopic ACTH Syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sarma, Asha, E-mail: ashasarma@gmail.com; Shyn, Paul B., E-mail: pshyn@partners.org; Vivian, Mark A.

Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.

Genetic, chromosomal, and syndromic causes of neural tube defects.

PubMed

Seidahmed, Mohammed Z; Abdelbasit, Omer B; Shaheed, Meeralebbae M; Alhussein, Khalid A; Miqdad, Abeer M; Samadi, Abdulmohsen S; Khalil, Mohammed I; Al-Mardawi, Elham; Salih, Mustafa A

2014-12-01

To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions.

Bilateral symmetrical adrenal hypermetabolism on FDG PET/CT due to Cushing syndrome in well differentiated neuroendocrine carcinoma.

PubMed

Aktas, G E; Soyluoglu Demir, S; Sarikaya, A

2016-01-01

The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.

Comparison of 68Ga-DOTANOC PET/CT and contrast-enhanced CT in localisation of tumours in ectopic ACTH syndrome

PubMed Central

Jadhav, Swati S; Lila, Anurag R; Kasaliwal, Rajeev; Khare, Shruti; Yerawar, Chaitanya G; Hira, Priya; Phadke, Uday; Shah, Hina; Lele, Vikram R; Malhotra, Gaurav; Bandgar, Tushar; Shah, Nalini S

2016-01-01

Background Localising ectopic adrenocorticotrophic hormone (ACTH) syndrome (EAS) tumour source is challenging. Somatostatin receptor-based PET imaging has shown promising results, but the data is limited to case reports and small case series. We reviewed here the performance of 68Ga-DOTANOC positron emission tomography (PET)/computed tomography (CT) and contrast-enhanced CT (CECT) in our cohort of 12 consecutive EAS patients. Materials and methods Retrospective data analysis of 12 consecutive patients of EAS presenting to a single tertiary care centre in a period between January 2013 and December 2014 was done. CECT and 68Ga-DOTANOC PET/CT were reported (blinded) by an experienced radiologist and a nuclear medicine physician, respectively. The performance of CECT and 68Ga-DOTANOC PET/CT was compared. Results Tumours could be localised in 11 out of 12 patients at initial presentation (overt cases), whereas in one patient, tumour remained occult. Thirteen lesions were identified in 11 patients as EAS source (true positives). CECT localised 12 out of these 13 lesions (sensitivity 92.3%) and identified five false-positive lesions (positive predictive value (PPV) 70.5%). Compared with false-positive lesions, true-positive lesions had greater mean contrast enhancement at 60s (33.2 vs 5.6 Hounsfield units (HU)). 68Ga-DOTANOC PET/CT was able to identify 9 out of 13 lesions (sensitivity 69.2%) and reported no false-positive lesions (PPV 100%). Conclusion CECT remains the first-line investigation in localisation of EAS. The contrast enhancement pattern on CECT can further aid in characterisation of the lesions. 68Ga-DOTANOC PET/CT can be added to CECT, to enhance positive prediction of the suggestive lesions. PMID:27006371

Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

PubMed

Zhai, Wei; Jin, Xin; Gong, Yan; Qu, Ling-Hui; Zhao, Chen; Li, Zhao-Hui

2015-01-01

To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2). The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing. The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls. We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT.

PubMed

Zhang, Yin; Chen, Yue; Huang, Zhanwen; Zhou, Fan

2015-11-01

A 45-year-old woman with pathologically confirmed adenocarcinoma of the cervix uteri and endometrium underwent FDG PET/CT for staging. No metastasis was found. However, the images revealed bronchiectasis, sinusitis, and situs inversus totalis, which are the triad of Kartagener syndrome.

Coronary involvement in Churg-Strauss syndrome: a case report with CT findings.

PubMed

Doo, Kyung Won; Yong, Hwan Seok; Kang, Eun-Young

2013-12-01

We report a case of Churg-Strauss syndrome (CSS) associated with coronary artery involvement, as demonstrated on coronary CT angiography (CCTA), without specific cardiac symptoms. A 69-year-old male had an 8-year history of bronchial asthma and chronic sinusitis with hypereosinophilia (35 %), polyneuropathy, and a positive antineutrophil cytoplasmic antibody titer, so he was diagnosed with CSS. The patient had no specific cardiac symptoms, but CCTA showed vasculitis and a saccular aneurysm involving the proximal coronary arteries. The 3-year follow-up CCTA demonstrated an increase in the extent of soft-tissue wall thickening and infiltration involving the coronary arteries. Although vasculitis of the major coronary arteries is not a prominent feature of CSS, our case suggests that the coronary arteries may also be targeted in this syndrome.

Resolution of Postural Orthostatic Tachycardia Syndrome After CT-Guided, Percutaneous T2 Ethanol Ablation for Hyperhidrosis.

PubMed

Brock, Malcolm; Chung, Tae Hwan; Gaddam, Sathvika Reddy; Kathait, Anjaneya Singh; Ober, Cecily; Georgiades, Christos

2016-12-01

Postural orthostatic tachycardia syndrome is characterized by orthostatic intolerance. Orthostasis (or other mild physical stress) triggers a cascade of inappropriate tachycardia, lightheadedness, palpitations, and often fainting. The underlying defect is sympathetic dysregulation of the heart, which receives its sympathetic tone from the cervical and upper thoracic sympathetic ganglia. Primary hyperhidrosis is also thought to be the result of sympathetic dysregulation. We present the case of a patient treated with CT-guided, percutaneous T2 EtOH sympatholysis for craniofacial hyperhidrosis. The patient also suffered from postural orthostatic tachycardia syndrome for many years and was unresponsive to treatment. Immediately after sympatholysis, the patient experienced resolution of both craniofacial hyperhidrosis and postural orthostatic tachycardia syndrome.

Resolution of Postural Orthostatic Tachycardia Syndrome After CT-Guided, Percutaneous T2 Ethanol Ablation for Hyperhidrosis

DOE Office of Scientific and Technical Information (OSTI.GOV)

Brock, Malcolm, E-mail: mabrock@jhmni.edu; Chung, Tae Hwan, E-mail: Tchang7@jhmi.edu; Gaddam, Sathvika Reddy, E-mail: drsathvikareddy@yahoo.com

Postural orthostatic tachycardia syndrome is characterized by orthostatic intolerance. Orthostasis (or other mild physical stress) triggers a cascade of inappropriate tachycardia, lightheadedness, palpitations, and often fainting. The underlying defect is sympathetic dysregulation of the heart, which receives its sympathetic tone from the cervical and upper thoracic sympathetic ganglia. Primary hyperhidrosis is also thought to be the result of sympathetic dysregulation. We present the case of a patient treated with CT-guided, percutaneous T2 EtOH sympatholysis for craniofacial hyperhidrosis. The patient also suffered from postural orthostatic tachycardia syndrome for many years and was unresponsive to treatment. Immediately after sympatholysis, the patient experiencedmore » resolution of both craniofacial hyperhidrosis and postural orthostatic tachycardia syndrome.« less

Genetic, chromosomal, and syndromic causes of neural tube defects

PubMed Central

Seidahmed, Mohammed Z.; Abdelbasit, Omer B.; Shaheed, Meeralebbae M.; Alhussein, Khalid A.; Miqdad, Abeer M.; Samadi, Abdulmohsen S.; Khalil, Mohammed I.; Al-Mardawi, Elham; Salih, Mustafa A.

2014-01-01

Objective: To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. Methods: We carried out a retrospective analysis of data retrieved from the medical records of newborn infants admitted to the Neonatal Intensive Care Unit with NTDs and their mothers spanning 14 years (1996-2009) at the Security Forces Hospital, Riyadh, Saudi Arabia. The cases were ascertained by a perinatologist, neonatologist, geneticist, radiologist, and neurologist. The literature was reviewed via a MEDLINE search. Only liveborn babies were included. Permission from the Educational Committee at the Security Forces Hospital was obtained prior to the collection of data. Results: Out of 103 infants with NTDs admitted during this period, 20 (19.4%) were found to have an underlying genetic syndromic, chromosomal and/or other anomalies. There were 5 cases of Meckel-Gruber syndrome, 2 Joubert syndrome, one Waardenburg syndrome, one Walker-Warburg syndrome, 2 chromosomal disorders, 2 caudal regression, one amniotic band disruption sequence, one associated with omphalocele, one with diaphragmatic hernia, and 4 with multiple congenital anomalies. Conclusions: There is a high rate of underlying genetic syndromic and/or chromosomal causes of NTDs in the Saudi Arabian population due to the high consanguinity rate. Identification of such association can lead to more accurate provisions of genetic counseling to the family including preimplantation genetic diagnosis or early termination of pregnancies associated with lethal conditions. PMID:25551112

CT-Guided Transfacet Pedicle Screw Fixation in Facet Joint Syndrome: A Novel Approach

PubMed Central

Manfré, Luigi

2014-01-01

Summary Axial microinstability secondary to disc degeneration and consequent chronic facet joint syndrome (CFJS) is a well-known pathological entity, usually responsible for low back pain (LBP). Although posterior lumbar fixation (PIF) has been widely used for lumbar spine instability and LBP, complications related to wrong screw introduction, perineural scars and extensive muscle dissection leading to muscle dysfunction have been described. Radiofrequency ablation (RFA) of facet joints zygapophyseal nerves conventionally used for pain treatment fails in approximately 21% of patients. We investigated a “covert-surgery” minimal invasive technique to treat local spinal instability and LBP, using a novel fully CT-guided approach in patients with axial instability complicated by CFJS resistant to radioablation, by introducing direct fully or partially threaded transfacet screws (transfacet fixation - TFF), to acquire solid arthrodesis, reducing instability and LBP. The CT-guided procedure was well tolerated by all patients in simple analogue sedation, and mean operative time was approximately 45 minutes. All eight patients treated underwent clinical and CT study follow-up at two months, revealing LBP disappearance in six patients, and a significant reduction of lumbar pain in two. In conclusion, CT-guided TFF is a fast and safe technique when facet posterior fixation is needed. PMID:25363265

Oxfordshire community stroke project clinical stroke syndrome and appearances of tissue and vascular lesions on pretreatment ct in hyperacute ischemic stroke among the first 510 patients in the Third International Stroke Trial (IST-3).

PubMed

Kobayashi, Adam; Wardlaw, Joanna M; Lindley, Richard I; Lewis, Steff C; Sandercock, Peter A G; Czlonkowska, Anna

2009-03-01

The Oxfordshire Community Stroke Project (OCSP) clinical stroke syndrome classification correlates well with the stroke lesion in established ischemic stroke, but there are few data in patients with hyperacute stroke. We wished to assess whether the OCSP correlated with the site and size of the ischemic lesion and location of cerebral vessel lesion on computed tomography (CT) in hyperacute stroke. Prospective study of ischemic stroke patients presenting within 6 hours of onset in the Third International Stroke Trial (IST-3), a randomized, controlled trial of rt-PA. OCSP syndrome was assigned by a computer-based algorithm. The CT assessment was made by a neuroradiologist blinded to clinical details. We assessed baseline data and CT findings for the first 510 patients; early tissue ischemic changes were present in 329/510 (65%) total anterior circulation syndrome (TACS) - 79%; partial anterior circulation syndrome (PACS) - 57%, lacunar syndrome (LACS) - 40%; posterior circulation syndrome (POCS) - 33%. The site and size of ischemic change on CT was compatible with the clinical syndrome in 79%, 37%, 2%, and 14%, respectively. Assuming that all patients with a normal CT scan will develop an incompatible lesion these numbers reflected the "worst possible scenario." For the "best possible scenario" we presumed that those with a normal CT will develop concordant ischemic change and the proportions were 100%, 80%, 62% and 81%, respectively. The hyperattenuated artery sign was seen in 206/510 (40%); (TACS 54%; PACS 35%, LACS 5%, and POCS 19%). Within 6 hours of stroke, in patients with a nonlacunar syndrome, the OCSP syndrome correlated well with the pattern of ischemic change on CT. For clinicians who wish to restrict the use of thrombolytic therapy to large-artery ischemic stroke, concordance of clinical and CT appearances may give greater confidence in making therapeutic decisions in hyperacute stroke. In centers where immediate access to MR is limited, use of the

Toxoplasma encephalitis in Haitian adults with acquired immunodeficiency syndrome: a clinical-pathologic-CT correlation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Post, M.J.D.; Chan, J.C.; Hensley, G.T.

1983-05-01

The clinical data, histologic findings, and computed tomographic (CT) abnormalities in eight adult Haitians with toxoplasma encephalitis were analyzed retrospectively. Diagnosis was established by identification of Toxoplasma gondii on autopsy in five and brain biopsy in three specimens and subsequently confirmed by the immunoperoxidase method. All these patiens, six of whom had been in the United States for 24 months or less, had severe idiopathic immunodeficiency syndrome. All were lymphopenic and six were on treatment for tuberculosis when the toxoplasma encephalitis developed. All patients were studied with CT when they developed an altered mental status and fever associated with seizuresmore » and/or focal neurologic deficits. Scans before treatment showed multiple intraparenchymal lesions in seven and a single lesion in the thalamus in one. Ring and/or nodular enhancement of the lesions was found in six and hypodense areas in two. Progressions of abnormalities occurred on serial studies. These CT findings that were best shown on axial and coronal thin-section double-dose contrast studies were useful but not diagnostically pathognomonic. In patients with similar clinical presentation CT is recommended to identify focal areas of involvement and to guide brain biopsy or excision so that prompt medical thereapy of this often lethal infection can be instituted.« less

Multi-detector thoracic CT findings in cerebro-costo-mandibular syndrome: rib gaps and failure of costo-vertebral separation.

PubMed

Watson, Tom Anthony; Arthurs, Owen John; Muthialu, Nagarajan; Calder, Alistair Duncan

2014-02-01

Cerebro-costo-mandibular syndrome (CCMS) describes a triad of mandibular hypoplasia, brain dysfunction and posterior rib defects ("rib gaps"). We present the CT imaging for a 2-year-old girl with CCMS that highlights the rib gap defects and shows absent transverse processes with abnormal fusion of the ribs directly to the vertebral bodies. We argue that this is likely to relate to abnormal lateral sclerotome development in embryology, with the failure of normal costo-vertebral junctions compounding impaired thoracic function. The case also highlights the use of CT for specific indications in skeletal dysplasia.

Update on oral-facial-digital syndromes (OFDS).

PubMed

Franco, Brunella; Thauvin-Robinet, Christel

2016-01-01

Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function. Preliminary data indicate a physical interaction among some of those proteins and future studies will clarify whether all OFDS proteins are part of a network functionally connected to cilia. Mutations in some of the genes can also lead to other types of ciliopathies with partially overlapping phenotypes, such as Joubert syndrome (JS) and Meckel syndrome (MKS), supporting the concept that cilia-related diseases might be a continuous spectrum of the same phenotype with different degrees of severity. To date, seven of the described OFDS still await a molecular definition and two unclassified forms need further clinical and molecular validation. Next-generation sequencing (NGS) approaches are expected to shed light on how many OFDS geneticists should consider while evaluating oral-facial-digital cases. Functional studies will establish whether the non-ciliary functions of the transcripts mutated in OFDS might contribute to any of the phenotypic abnormalities observed in OFDS.

Genetics Home Reference: Joubert syndrome

MedlinePlus

... sensing the physical environment and in chemical signaling. Primary cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Primary cilia are also necessary for the perception ...

Low-dose CT for quantitative analysis in acute respiratory distress syndrome

PubMed Central

2013-01-01

Introduction The clinical use of serial quantitative computed tomography (CT) to characterize lung disease and guide the optimization of mechanical ventilation in patients with acute respiratory distress syndrome (ARDS) is limited by the risk of cumulative radiation exposure and by the difficulties and risks related to transferring patients to the CT room. We evaluated the effects of tube current-time product (mAs) variations on quantitative results in healthy lungs and in experimental ARDS in order to support the use of low-dose CT for quantitative analysis. Methods In 14 sheep chest CT was performed at baseline and after the induction of ARDS via intravenous oleic acid injection. For each CT session, two consecutive scans were obtained applying two different mAs: 60 mAs was paired with 140, 15 or 7.5 mAs. All other CT parameters were kept unaltered (tube voltage 120 kVp, collimation 32 × 0.5 mm, pitch 0.85, matrix 512 × 512, pixel size 0.625 × 0.625 mm). Quantitative results obtained at different mAs were compared via Bland-Altman analysis. Results Good agreement was observed between 60 mAs and 140 mAs and between 60 mAs and 15 mAs (all biases less than 1%). A further reduction of mAs to 7.5 mAs caused an increase in the bias of poorly aerated and nonaerated tissue (-2.9% and 2.4%, respectively) and determined a significant widening of the limits of agreement for the same compartments (-10.5% to 4.8% for poorly aerated tissue and -5.9% to 10.8% for nonaerated tissue). Estimated mean effective dose at 140, 60, 15 and 7.5 mAs corresponded to 17.8, 7.4, 2.0 and 0.9 mSv, respectively. Image noise of scans performed at 140, 60, 15 and 7.5 mAs corresponded to 10, 16, 38 and 74 Hounsfield units, respectively. Conclusions A reduction of effective dose up to 70% has been achieved with minimal effects on lung quantitative results. Low-dose computed tomography provides accurate quantitative results and could be used to characterize lung compartment distribution and

"Shin splint" syndrome and tibial stress fracture in the same patient diagnosed by means of (99m)Tc-HMDP SPECT/CT.

PubMed

Vicente, Justo Serrano; Grande, Maria Luz Domínguez; Torre, Jose Rafael Infante; Madrid, Juan Ignacio Rayo; Barquero, Carmen Durán; Bernardo, Lucía García; Sánchez, Román Sánchez

2013-04-01

We show a patient who presented leg pain triggered by intense exercise. The most likely diagnosis was a possible tibial stress fracture or a "shin splint" syndrome (soleus enthesopathy). We performed a bone scintigraphy including SPECT/CT that revealed the presence of the two concomitant pathologies. SPECT/CT identified the hot spot superimposed with bone lesion in the tibial stress fracture and only remodeling activity without evidence of cortical lesions in the enthesopathy processes.

Multislice spiral CT angiography for evaluation of acute aortic syndrome.

PubMed

Zhao, De-Li; Liu, Xin-Ding; Zhao, Cheng-Lei; Zhou, Hai-Ting; Wang, Guo-Kun; Liang, Hong-Wei; Zhang, Jin-Ling

2017-10-01

To discuss the diagnostic value of multislice CT angiography (MSCTA) in acute aortic syndrome (AAS). The clinical and imaging data of 36 cases diagnosed as AAS by MSCTA were collected. The manifestations of the MSCTA images were reviewed retrospectively, and the average x-ray dose was calculated. Among 36 AAS cases, 16 cases had aortic dissection (AD), 8 cases had penetrating atherosclerotic ulcer (PAU), 7 cases had intramural hematoma (IMH), and 5 cases had unstable thoracic aneurysm (UTA). Of 16 cases with AD, type A and type B accounted for 43.7% (7/16) and 56.3% (9/16), respectively. Of 7 cases with IMH, type A and type B accounted for 42.9% (3/7) and 57.1% (4/7), respectively. In spite of the x-ray radiation, MSCTA proves to be a rapid and noninvasive imaging technique for the diagnosis of AAS. © 2017, Wiley Periodicals, Inc.

Prediction of severe pre-eclampsia/HELLP syndrome by combination of sFlt-1, CT-pro-ET-1 and blood pressure: exploratory study.

PubMed

Lind Malte, A; Uldbjerg, N; Wright, D; Tørring, N

2018-06-01

To evaluate the performance of a combination of angiogenic and vasoactive biomarkers to predict the development of severe pre-eclampsia (PE)/HELLP syndrome in the third trimester. Included were 215 women referred in the third trimester to an obstetric outpatient clinic with suspected PE (mean gestational age, 35 + 4 weeks), and 94 with normal pregnancy attending a midwife clinic. Cases were categorized as having subclinical PE, essential hypertension, gestational hypertension, moderate PE, and severe PE/HELLP syndrome. Blood samples were analyzed by immunoassay and groups were compared with respect to potential clinical and biochemical biomarkers, with the primary outcome being development of severe PE/HELLP syndrome within 1 week and within 2 weeks of analysis. The most promising markers were also assessed in combination. In the patients presenting with mild to moderate symptoms of PE, the individual markers which performed best for the prediction of progression to severe PE/HELLP syndrome within 1 week and within 2 weeks of biomarker evaluation were C-terminal pro-endothelin-1 (CT-pro-ET-1) (area under the receiver-operating characteristics curve (AUC), 0.82 and 0.78, respectively), soluble fms-like tyrosine kinase-1 (sFlt-1) (AUC, 0.81 and 0.76), systolic blood pressure (AUC, 0.80 and 0.68) and midregional pro-atrial natriuretic peptide (AUC, 0.79 and 0.77). The combination of biomarkers with the best performance was CT-pro-ET-1, sFlt-1 and systolic blood pressure, achieving an AUC of 0.94 for prediction of development of severe PE/HELLP syndrome within 1 week and an AUC of 0.83 for prediction of their development within 2 weeks of biomarker evaluation. The performance of CT-pro-ET-1 for prediction of the development of PE/HELLP syndrome in the third trimester was promising, especially in combination with sFlt-1 and systolic blood pressure. This was an exploratory study and our findings should be confirmed in further studies. Copyright © 2017

Sagittal-lung CT measurements in the evaluation of asthma-COPD overlap syndrome: a distinctive phenotype from COPD alone.

PubMed

Qu, Yanjuan; Cao, Yiyuan; Liao, Meiyan; Lu, Zhiyan

2017-07-01

This study aimed at investigating the capability of sagittal-lung computed tomography (CT) measurements in differentiating chronic obstructive pulmonary disease (COPD) and asthma-COPD overlap syndrome (ACOS). Clinical and high-resolution CT of 229 patients including 123 pure COPD patients and 106 ACOS patients were included. Sagittal-lung CT measurements in terms of bilateral lung height (LH), anterior-posterior lung diameter (APLD), diaphragm height (DH), and anterior sterno-diaphragmatic angle (ASDA), as well as inter-pulmonary septum length (IPSL) on axial images were measured both before and after bronchodilator (BD) administration. Comparisons of clinical characteristics and CT measurements between patient groups were performed. All pre-BD quantitative sagittal features measuring diaphragm flattening and hyperinflation were not significantly different between patients with COPD and patients with ACOS (P values all >0.05). Following BD administration, the ACOS patients exhibited lower left LH, bilateral APLD, and bilateral ASDA, but higher right DH, compared to pure COPD patients (P values all <0.05). Right LH, left DH and IPSL were not significantly different between patient groups. Besides, variations of all sagittal-lung CT measurements were significantly larger in patients with ACOS than in patients with pure COPD (P values all <0.001) and showed high performance in differentiating these two kinds of patient, with diagnostic sensitivities ranging from 76.4 to 97.2%, specificities ranging from 86.2 to 100.0%, and accuracies ranging from 80.9 to 90.7%. Sagittal-lung CT measurements allow for differentiating patients with ACOS from those with pure COPD. The ACOS patients had larger post-BD variations of sagittal-lung CT measurements than patients with pure COPD.

The Utility of FDG-PET/CT in Clinically Suspected Paraneoplastic Neurological Syndrome: A Literature Review and Retrospective Case Series.

PubMed

Maskery, Mark P; Hill, Jonathan; Cain, John R; Emsley, Hedley C A

2017-01-01

Paraneoplastic neurological syndrome (PNS) describes a spectrum of rare, heterogeneous neurological conditions associated with an underlying malignancy. Diagnosis of PNS is inherently difficult, with frequent misdiagnosis and delay. The literature suggests an underlying immune-mediated pathophysiology, and patients are usually tested for the presence of onconeural antibodies. With direct tumor therapy being the most effective method of stabilizing patients, there is a strong emphasis on detecting underlying tumors. The sensitivity of conventional CT imaging is often inadequate in such patients. While FDG-PET imaging has already been shown to be effective at detecting these tumors, FDG-PET/CT, combining both structural and functional imaging in a single study, is a more recent technique. To study the utility of FDG-PET/CT, we conducted a systematic literature review and a retrospective study. We identified 41 patients who underwent imaging for clinically suspected PNS at the regional PET-CT and neurosciences center based at the Royal Preston Hospital between 2007 and 2014 and compared the results to conventional investigations. Five patients had FDG-PET/CT tracer avidity suspicious of malignant disease, and four of these were subsequently diagnosed with cancer. Sensitivity and specificity were calculated to be 100 and 97.3%, respectively, with positive predictive value 80% and negative predictive value 100%. This compares to a sensitivity and specificity of 50 and 100%, respectively, for CT and 50 and 89%, respectively, for onconeural antibodies. These findings are in line with previous studies and support the diagnostic accuracy of FDG-PET/CT for the detection of underlying malignancy.

Machine Learning Algorithms Utilizing Quantitative CT Features May Predict Eventual Onset of Bronchiolitis Obliterans Syndrome After Lung Transplantation.

PubMed

Barbosa, Eduardo J Mortani; Lanclus, Maarten; Vos, Wim; Van Holsbeke, Cedric; De Backer, William; De Backer, Jan; Lee, James

2018-02-19

Long-term survival after lung transplantation (LTx) is limited by bronchiolitis obliterans syndrome (BOS), defined as a sustained decline in forced expiratory volume in the first second (FEV 1 ) not explained by other causes. We assessed whether machine learning (ML) utilizing quantitative computed tomography (qCT) metrics can predict eventual development of BOS. Paired inspiratory-expiratory CT scans of 71 patients who underwent LTx were analyzed retrospectively (BOS [n = 41] versus non-BOS [n = 30]), using at least two different time points. The BOS cohort experienced a reduction in FEV 1 of >10% compared to baseline FEV 1 post LTx. Multifactor analysis correlated declining FEV 1 with qCT features linked to acute inflammation or BOS onset. Student t test and ML were applied on baseline qCT features to identify lung transplant patients at baseline that eventually developed BOS. The FEV 1 decline in the BOS cohort correlated with an increase in the lung volume (P = .027) and in the central airway volume at functional residual capacity (P = .018), not observed in non-BOS patients, whereas the non-BOS cohort experienced a decrease in the central airway volume at total lung capacity with declining FEV 1 (P = .039). Twenty-three baseline qCT parameters could significantly distinguish between non-BOS patients and eventual BOS developers (P < .05), whereas no pulmonary function testing parameters could. Using ML methods (support vector machine), we could identify BOS developers at baseline with an accuracy of 85%, using only three qCT parameters. ML utilizing qCT could discern distinct mechanisms driving FEV 1 decline in BOS and non-BOS LTx patients and predict eventual onset of BOS. This approach may become useful to optimize management of LTx patients. Copyright © 2018 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.

Is the routine CT head scan justified for psychiatric patients? A prospective study.

PubMed Central

Ananth, J; Gamal, R; Miller, M; Wohl, M; Vandewater, S

1993-01-01

Thirty-four psychiatric patients, assessed for a physical illness that was missed during diagnosis, underwent a CT scan. After investigation, the diagnosis of 14 patients changed from a functional to an organic illness. In nine patients, the CT scan was reported to be abnormal, and yet only two were diagnosed as having an organic syndrome. In seven patients, the CT scan was normal but the patients had an undisputed organic brain syndrome. These findings indicate that the use of CT scans should be restricted to cases in which the diagnosis is seriously in question. The clinical findings should dictate the use of CT scans either to clarify or to complement them. PMID:8461285

Cortical and diencephalic lesions in Korsakoff's syndrome: a clinical and CT scan study.

PubMed

Jacobson, R R; Lishman, W A

1990-02-01

Twenty-five male alcoholic Korsakoff patients were compared with age and sex-matched non-Korsakoff chronic alcoholics and healthy volunteers on clinical and CT brain scan parameters. The scans were assessed by planimetry, visual grading procedures and computerized analysis. Reliable measures of third ventricular size were developed. The Korsakoff patients had wider third ventricles, larger lateral ventricles and wider interhemispheric fissures than the comparison groups; but sulcal and Sylvian fissure widths were equivalent in Korsakoff and non-Korsakoff alcoholics. The results suggest that, in addition to their well-established diencephalic lesions, many Korsakoff patients have sustained widespread cerebral damage. Shrinkage in the frontal brain regions appears to be especially pronounced. The implications for a dual aetiology of alcoholic Korsakoff's syndrome involving thiamine deficiency and features associated with alcoholism, probably direct alcohol neurotoxicity, are discussed.

CT Angiography after 20 Years

PubMed Central

Rubin, Geoffrey D.; Leipsic, Jonathon; Schoepf, U. Joseph; Fleischmann, Dominik; Napel, Sandy

2015-01-01

Through a marriage of spiral computed tomography (CT) and graphical volumetric image processing, CT angiography was born 20 years ago. Fueled by a series of technical innovations in CT and image processing, over the next 5–15 years, CT angiography toppled conventional angiography, the undisputed diagnostic reference standard for vascular disease for the prior 70 years, as the preferred modality for the diagnosis and characterization of most cardiovascular abnormalities. This review recounts the evolution of CT angiography from its development and early challenges to a maturing modality that has provided unique insights into cardiovascular disease characterization and management. Selected clinical challenges, which include acute aortic syndromes, peripheral vascular disease, aortic stent-graft and transcatheter aortic valve assessment, and coronary artery disease, are presented as contrasting examples of how CT angiography is changing our approach to cardiovascular disease diagnosis and management. Finally, the recently introduced capabilities for multispectral imaging, tissue perfusion imaging, and radiation dose reduction through iterative reconstruction are explored with consideration toward the continued refinement and advancement of CT angiography. PMID:24848958

The D1CT-7 mouse model of Tourette syndrome displays sensorimotor gating deficits in response to spatial confinement.

PubMed

Godar, Sean C; Mosher, Laura J; Strathman, Hunter J; Gochi, Andrea M; Jones, Cori M; Fowler, Stephen C; Bortolato, Marco

2016-07-01

The D1CT-7 mouse is one of the best known animal models of Tourette syndrome (TS), featuring spontaneous tic-like behaviours sensitive to standard TS therapies; these characteristics ensure a high face and predictive validity of this model, yet its construct validity remains elusive. To address this issue, we studied the responses of D1CT-7 mice to two critical components of TS pathophysiology: the exacerbation of tic-like behaviours in response to stress and the presence of sensorimotor gating deficits, which are thought to reflect the perceptual alterations causing the tics. D1CT-7 and wild-type (WT) littermates were subjected to a 20 min session of spatial confinement (SC) within an inescapable, 10 cm wide cylindrical enclosure. Changes in plasma corticosterone levels, tic-like behaviours and other spontaneous responses were measured. SC-exposed mice were also tested for the prepulse inhibition (PPI) of the startle response (a sensorimotor gating index) and other TS-related behaviours, including open-field locomotion, novel object exploration and social interaction and compared with non-confined counterparts. SC produced a marked increase in corticosterone concentrations in both D1CT-7 and WT mice. In D1CT-7, but not WT mice, SC exacerbated tic-like and digging behaviours, and triggered PPI deficits and aggressive responses. Conversely, SC did not modify locomotor activity or novel object exploration in D1CT-7 mice. Both tic-like behaviours and PPI impairments in SC-exposed D1CT-7 mice were inhibited by standard TS therapies and D1 dopamine receptor antagonism. These findings collectively support the translational and construct validity of D1CT-7 mice with respect to TS. This article is part of a themed section on Updating Neuropathology and Neuropharmacology of Monoaminergic Systems. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v173.13/issuetoc. © 2015 The British Pharmacological Society.

Hybrid (laparoscopy + stent) treatment of celiac trunk compression syndrome (Dunbar syndrome, median arcuate ligament syndrome (MALS))

PubMed Central

Michalik, Maciej; Lech, Paweł; Majda, Kaja; Gutowski, Piotr

2016-01-01

Introduction Celiac trunk (CT) compression syndrome caused by the median arcuate ligament (MAL) is a rarely diagnosed disease because of its nonspecific symptoms, which cause a delay in the correct diagnosis. Intestinal ischemia occurs, which causes symptoms of abdominal angina. One method of treatment for this disease is surgical release of the CT – the intersection of the MAL. Laparoscopy is the first step of the hybrid technique combined with percutaneous angioplasty and stenting of the CT. Aim To demonstrate the usefulness and advantages of the laparoscopic approach in the treatment of Dunbar syndrome. Material and methods Between 2013 and 2016 in the General and Minimally Invasive Surgery Department of the Medical Sciences Faculty of the University of Warmia and Mazury in Olsztyn, 6 laparoscopic procedures were performed because of median arcuate ligament syndrome. During the laparoscopy the MAL was cut with a harmonic scalpel. One month after laparoscopy 5 patients had Doppler percutaneous angioplasty of the CT with stent implantation in the Vascular Surgery Department in Pomeranian Medical University in Szczecin. Results In one case, there was a conversion of laparoscopic surgery to open due to unmanageable intraoperative bleeding. In one case, postoperative ultrasound examination of the abdominal cavity demonstrated the presence of a large hematoma in the retroperitoneal space. All patients reported relief of symptoms in the first days after the operation. Conclusions The hybrid method, combining laparoscopy and angioplasty, seems to be a long-term solution, which increases the comfort of the patient, brings the opportunity for normal functioning and minimizes the risk of restenosis. PMID:28194242

Hybrid (laparoscopy + stent) treatment of celiac trunk compression syndrome (Dunbar syndrome, median arcuate ligament syndrome (MALS)).

PubMed

Michalik, Maciej; Dowgiałło-Wnukiewicz, Natalia; Lech, Paweł; Majda, Kaja; Gutowski, Piotr

2016-01-01

Celiac trunk (CT) compression syndrome caused by the median arcuate ligament (MAL) is a rarely diagnosed disease because of its nonspecific symptoms, which cause a delay in the correct diagnosis. Intestinal ischemia occurs, which causes symptoms of abdominal angina. One method of treatment for this disease is surgical release of the CT - the intersection of the MAL. Laparoscopy is the first step of the hybrid technique combined with percutaneous angioplasty and stenting of the CT. To demonstrate the usefulness and advantages of the laparoscopic approach in the treatment of Dunbar syndrome. Between 2013 and 2016 in the General and Minimally Invasive Surgery Department of the Medical Sciences Faculty of the University of Warmia and Mazury in Olsztyn, 6 laparoscopic procedures were performed because of median arcuate ligament syndrome. During the laparoscopy the MAL was cut with a harmonic scalpel. One month after laparoscopy 5 patients had Doppler percutaneous angioplasty of the CT with stent implantation in the Vascular Surgery Department in Pomeranian Medical University in Szczecin. In one case, there was a conversion of laparoscopic surgery to open due to unmanageable intraoperative bleeding. In one case, postoperative ultrasound examination of the abdominal cavity demonstrated the presence of a large hematoma in the retroperitoneal space. All patients reported relief of symptoms in the first days after the operation. The hybrid method, combining laparoscopy and angioplasty, seems to be a long-term solution, which increases the comfort of the patient, brings the opportunity for normal functioning and minimizes the risk of restenosis.

[Cockett's syndrome, May-Thurner syndrome, or iliac vein compression syndrome].

PubMed

Gil Martín, A R; Carreras Aja, M; Arrieta Ardieta, I; Labayen Azparren, I

2014-01-01

Iliac vein compression syndrome (also known as May-Thurner syndrome or Cockett's syndrome) is a rare clinical entity in which the left common iliac vein is compressed when it passes between the right common iliac artery and the spine. The sustained compression and trauma caused by the pulsatile force of the artery on the vein damage the intima and lead to the formation of membranes or bands in the vascular lumen that hinder or obstruct the flow of blood in the vein, favoring thrombus formation. The current treatment strategy of choice is endovascular vein patch angioplasty and stenting with the aim of improving the caliber of the lumen and enabling normal venous drainage. We present two cases of May-Thurner syndrome and review the clinical and CT findings. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

Alagille Syndrome Candidates for Liver Transplantation: Differentiation from End-Stage Biliary Atresia Using Preoperative CT.

PubMed

Hwang, Sook Min; Jeon, Tae Yeon; Yoo, So-Young; Kim, Ji Hye; Kang, Ben; Choe, Yon Ho; Cho, Haeyon; Kim, Jung Sun

2016-01-01

To compare preoperative CT findings before liver transplantation between patients with Alagille syndrome (AGS) and those with end-stage biliary atresia (BA). The institutional review board approved this retrospective study. Eleven children with AGS (median age, 19.0 ± 13.0 months; male to female ratio, 3:8) and 109 children with end-stage BA (median age, 17.9 ± 25.8 months; male to female ratio, 37:72) who underwent abdomen CT as candidates for liver transplant were included. CT images were reviewed focusing on hepatic parenchymal changes, vascular changes, presence of focal lesions, and signs of portal hypertension. Hepatic parenchymal changes were present in 27% (3/11) of AGS patients and 100% (109/109) of end-stage BA patients (P < .001). The hepatic artery diameter was significantly smaller (1.9 mm versus 3.6 mm, P = 008), whereas portal vein diameter was larger (6.8 mm versus 5.0 mm, P < .001) in patients with AGS compared with patients with end-stage BA. No focal lesion was seen in patients with AGS, whereas 44% (48/109) of patients with end-stage BA had intrahepatic biliary cysts (39%, 43/109) and hepatic tumors (8%, 9/109) (P = .008). Splenomegaly was commonly seen in both groups (P = .082), and ascites (9% [1/11] versus 50% [54/109], P = .010) and gastroesophageal varix (0% [0/11] versus 80% [87/109], P < .001) were less common in patients with AGS than in patients with end-stage BA. Fibrotic or cirrhotic changes of the liver, presence of focal lesions, and relevant portal hypertension were less common in patients with AGS than in patients with end-stage BA.

Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.

PubMed

Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A

2017-01-01

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathies, and MKS represents the most severe condition in this group of disorders. The primary cilium is a microtubule-based organelle, projecting from the apical surface of vertebrate cells. It acts as an "antenna" that receives and transduces chemosensory and mechanosensory signals, but also regulates diverse signaling pathways, such as Wnt and Shh, that have important roles during embryonic development. Most MKS proteins localize to a distinct ciliary compartment called the transition zone (TZ) that regulates the trafficking of cargo proteins or lipids. In this review, we provide an up-to-date summary of MKS clinical features, molecular genetics, and clinical diagnosis. MKS has a highly variable phenotype, extreme genetic heterogeneity, and displays allelism with other related ciliopathies such as Joubert syndrome, presenting significant challenges to diagnosis. Recent advances in genetic technology, with the widespread use of multi-gene panels for molecular testing, have significantly improved diagnosis, genetic counseling, and the clinical management of MKS families. These include the description of some limited genotype-phenotype correlations. We discuss recent insights into the molecular basis of disease in MKS, since the functions of some of the relevant ciliary proteins have now been determined. A common molecular etiology appears to be disruption of ciliary TZ structure and function, affecting essential developmental signaling and the regulation of secondary messengers.

Eagle's Syndrome

PubMed Central

Pinheiro, Thaís Gonçalves; Soares, Vítor Yamashiro Rocha; Ferreira, Denise Bastos Lage; Raymundo, Igor Teixeira; Nascimento, Luiz Augusto; Oliveira, Carlos Augusto Costa Pires de

2013-01-01

Summary Introduction: Eagle's syndrome is characterized by cervicopharyngeal signs and symptoms associated with elongation of the styloid apophysis. This elongation may occur through ossification of the stylohyoid ligament, or through growth of the apophysis due to osteogenesis triggered by a factor such as trauma. Elongation of the styloid apophysis may give rise to intense facial pain, headache, dysphagia, otalgia, buzzing sensations, and trismus. Precise diagnosis of the syndrome is difficult, and it is generally confounded by other manifestations of cervicopharyngeal pain. Objective: To describe a case of Eagle's syndrome. Case Report: A 53-year-old man reported lateral pain in his neck that had been present for 30 years. Computed tomography (CT) of the neck showed elongation and ossification of the styloid processes of the temporal bone, which was compatible with Eagle's syndrome. Surgery was performed for bilateral resection of the stylohyoid ligament by using a transoral and endoscopic access route. The patient continued to present pain laterally in the neck, predominantly on his left side. CT was performed again, which showed elongation of the styloid processes. The patient then underwent lateral cervicotomy with resection of the stylohyoid process, which partially resolved his painful condition. Final Comments: Patients with Eagle's syndrome generally have a history of chronic pain. Appropriate knowledge of this disease is necessary for adequate treatment to be provided. The importance of diagnosing this uncommon and often unsuspected disease should be emphasized, given that correct clinical-surgical treatment is frequently delayed. The diagnosis of Eagle's syndrome is clinical and radiographic, and the definitive treatment in cases of difficult-to-control pain is surgical. PMID:25992033

Cystic lung disease in birt-hogg-dubé syndrome: a case series of three patients.

PubMed

Kilincer, Abidin; Ariyurek, Orhan Macit; Karabulut, Nevzat

2014-06-01

Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT) features of three patients with Birt-Hogg-Dubé syndrome. Each patient had multiple lung cysts of various sizes according to chest CT evaluation, most of which were located in lower lobes and related to pleura. The identification of unique characteristics in the chest CT of patients with Birt-Hogg-Dubé syndrome may provide an efficient mechanism for diagnosis.

Mouse models of ciliopathies: the state of the art

PubMed Central

Norris, Dominic P.; Grimes, Daniel T.

2012-01-01

The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS) and Alström syndrome (ALS). Reflecting the manifold requirements for cilia in signalling, sensation and motility, different ciliopathies exhibit common elements. The mouse has been used widely as a model organism for the study of ciliopathies. Although many mutant alleles have proved lethal, continued investigations have led to the development of better models. Here, we review current mouse models of a core set of ciliopathies, their utility and future prospects. PMID:22566558

Quantification of hepatic and visceral fat by CT and MR imaging: relevance to the obesity epidemic, metabolic syndrome and NAFLD.

PubMed

Graffy, Peter M; Pickhardt, Perry J

2016-06-01

Trends in obesity have continued to increase in the developed world over the past few decades, along with related conditions such as metabolic syndrome, which is strongly associated with this epidemic. Novel and innovative methods to assess relevant obesity-related biomarkers are needed to determine the clinical significance, allow for surveillance and intervene if appropriate. Aggregations of specific types of fat, specifically hepatic and visceral adiposity, are now known to be correlated with these conditions, and there are a variety of imaging techniques to identify and quantify their distributions and provide diagnostic information. These methods are particularly salient for metabolic syndrome, which is related to both hepatic and visceral adiposity but currently not defined by it. Simpler non-specific fat measurements, such as body weight, abdominal circumference and body mass index are more frequently used but lack the ability to characterize fat location. In addition, non-alcoholic fatty liver disease (NAFLD) is a related condition that carries relevance not only for obesity-related diseases but also for the progression of the liver-specific disease, including non-alcoholic steatohepatitis and cirrhosis, albeit at a much lower frequency. Recent CT and MRI techniques have emerged to potentially optimize diagnosing metabolic syndrome and NAFLD through non-invasive quantification of visceral fat and hepatic steatosis with high accuracy. These imaging modalities should aid us in further understanding the relationship of hepatic and visceral fat to the obesity-related conditions such as metabolic syndrome, NAFLD and cardiovascular disease.

Spectral CT imaging in patients with Budd-Chiari syndrome: investigation of image quality.

PubMed

Su, Lei; Dong, Junqiang; Sun, Qiang; Liu, Jie; Lv, Peijie; Hu, Lili; Yan, Liangliang; Gao, Jianbo

2014-11-01

To assess the image quality of monochromatic imaging from spectral CT in patients with Budd-Chiari syndrome (BCS), fifty patients with BCS underwent spectral CT to generate conventional 140 kVp polychromatic images (group A) and monochromatic images, with energy levels from 40 to 80, 40 + 70, and 50 + 70 keV fusion images (group B) during the portal venous phase (PVP) and the hepatic venous phase (HVP). Two-sample t tests compared vessel-to-liver contrast-to-noise ratio (CNR) and signal-to-noise ratio (SNR) for the portal vein (PV), hepatic vein (HV), inferior vena cava. Readers' subjective evaluations of the image quality were recorded. The highest SNR values in group B were distributed at 50 keV; the highest CNR values in group B were distributed at 40 keV. The higher CNR values and SNR values were obtained though PVP of PV (SNR 18.39 ± 6.13 vs. 10.56 ± 3.31, CNR 7.81 ± 3.40 vs. 3.58 ± 1.31) and HVP of HV (3.89 ± 2.08 vs. 1.27 ± 1.55) in the group B; the lower image noise for group B was at 70 keV and 50 + 70 keV (15.54 ± 8.39 vs. 18.40 ± 4.97, P = 0.0004 and 18.97 ± 7.61 vs. 18.40 ± 4.97, P = 0.0691); the results show that the 50 + 70 keV fusion image quality was better than that in group A. Monochromatic energy levels of 40-70, 40 + 70, and 50 + 70 keV fusion image can increase vascular contrast and that will be helpful for the diagnosis of BCS, we select the 50 + 70 keV fusion image to acquire the best BCS images.

[Acquired hypogammaglobulinemia associated with thymoma: Good syndrome].

PubMed

Aouadi, Samira; Ghrairi, Najla; Braham, Emna; Kaabi, Manel; Maâlej, Sonia; Elgharbi, Leila Douik

2017-01-01

Good syndrome (GS) is defined as the association between thymoma and immune deficiency. It is often complicated by broncho-pulmonary bacterial infections and rhinosinusitis. This disease accounts for only 5% of all parathymic syndromes. These recurrent respiratory infections can cause bronchiectasis associated with Good syndrome. We report the case of a 52-year old woman hospitalized for non resolutive infectious pneumonitis. Chest CT scan showed bronchiectasis associated with thymoma confirmed by biopsy. The discovery of hypogammaglobulinemia allowed the diagnosis of Good syndrome.

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

PubMed

Loos, Elke; Verhaert, Nicolas; Willaert, Annelore; Devriendt, Koenraad; Swillen, Ann; Hermans, Robert; Op de Beeck, Katya; Hens, Greet

2016-11-01

The 22q11 deletion syndrome (22q11DS), the most frequent microdeletion syndrome in humans, presents with a large variety of abnormalities. A common abnormality is hearing impairment. The exact pathophysiological explanation of the observed hearing loss remains largely unknown. The aim of this study was to analyze the middle and inner ear malformations as seen on computer tomographic imaging in patients with 22q11DS. We retrospectively reviewed the charts of 11 22q11DS patients who had undergone a CT of the temporal bone in the past. Of the 22 examined ears, two showed an abnormal malleus and incus, 10 presented with a dense stapes superstructure, and three ears had an abnormal orientation of the stapes. With regard to the inner ear, 12 ears showed an incomplete partition type II with a normal vestibular aqueduct. In four ears the vestibule and lateral semicircular canal were composed of a single cavity, in 14 ears the vestibule was too wide, and three ears had a broadened lateral semicircular canal. These findings suggest that malformations of the stapes, cochlea, vestibule, and lateral semicircular canal are frequent in 22q11DS. To our knowledge, the current study involves the largest case series describing middle and inner ear malformations in 22q11DS. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

GIANT CELL AORTITIS DIAGNOSED WITH PET/CT - PARANEOPLASTIC SYNDROME?

PubMed

Bakula, Marija; Cerovec, Mislav; Mayer, Miroslav; Huić, Dražen; Anić, Branimir

2016-05-01

Vasculitides are heterogenic group of autoimmune connective tissue diseases which often present difficulties in early diagnosing. Giant cell arteritis is vasculitis of large and medium arteries. It predominantly presents with symptoms of affection of the external carotid artery branches. Furthermore, the only symptoms can be constitutional. In clinical practice, vasculitides are sometimes considered as paraneoplastic, but no definite association with malignancies has been established and the mechanisms are still debated. The gold standard for diagnosing giant cell arteritis is a positive temporal artery biopsy, but the results can often be false negative. Additionally, more than half of the patients have aorta and its main branches affected. Considering aforementioned, imaging studies are essential in confirming large-vessel vasculitis, amongst which is highly sensitive PET/CT. We present the case of a 70-year-old female patient with constitutional symptoms and elevated sedimentation rate. After extensive diagnostic tests, she was admitted to our Rheumatology unit. Aortitis of the abdominal aorta has been confirmed by PET/CT and after the introduction of glucocorticoids the disease soon went into clinical and laboratory remission. Shortly after aortitis has been diagnosed, lung carcinoma was revealed of which the patient died. At the time of the comprehensive diagnostics, there was no reasonable doubt for underlying malignoma. To the best of our knowledge, there are no recent publications concerning giant cell arteritis and neoplastic processes in the context of up-to-date non-invasive diagnostic methods (i.e. PET/CT). In the light of previous research results, we underline that the sensitivity of PET/CT is not satisfactory when estimating cancer dissemination in non-enlarged lymph nodes and that its value can at times be overestimated.

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

PubMed

Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods.

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

PubMed Central

Chen, Dezhong; Zhao, Na; Wang, Jing; Li, Zhuoyu; Wu, Changxin; Fu, Jie; Xiao, Han

2017-01-01

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to be disease causing by in silico analysis. This is the first report of genetically diagnosed case of WS PAX3 c.598C>T nonsense mutation in Chinese ethnic origin by WES and in silico functional prediction methods. PMID:28690861

Marshall M. Parks Memorial Lecture: Ocular Motor Misbehavior in Children: Where Neuro-Ophthalmology Meets Strabismus.

PubMed

Brodsky, Michael C

2017-06-01

Clinical diagnosis has been supplemented by neuroimaging advances, genetic discoveries, and molecular research to generate new neurobiological discoveries pertaining to early maldevelopment of ocular motor control systems. In this focused review, I examine recent paradigm shifts that have transformed our understanding of pediatric ocular motor disease at the prenuclear and infranuclear levels. The pathogenesis of complex ocular motor disorders, such as paradoxical pupillary constriction to darkness, benign tonic upgaze of infancy, congenital fibrosis syndrome, and the constellation of unique eye movements that accompany Joubert syndrome, are elucidated. Copyright © 2017 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

A rare variant in MYH6 is associated with high risk of sick sinus syndrome

PubMed Central

Holm, Hilma; Gudbjartsson, Daniel F; Sulem, Patrick; Masson, Gisli; Helgadottir, Hafdis Th; Zanon, Carlo; Magnusson, Olafur Th; Helgason, Agnar; Saemundsdottir, Jona; Gylfason, Arnaldur; Stefansdottir, Hrafnhildur; Gretarsdottir, Solveig; Matthiasson, Stefan E; Thorgeirsson, Guðmundur; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Stefansson, Hreinn; Werge, Thomas; Rafnar, Thorunn; Kiemeney, Lambertus A; Parvez, Babar; Muhammad, Raafia; Roden, Dan M; Darbar, Dawood; Thorleifsson, Gudmar; Walters, G Bragi; Kong, Augustine; Thorsteinsdottir, Unnur; Arnar, David O; Stefansson, Kari

2011-01-01

Through complementary application of SNP genotyping, whole-genome sequencing and imputation in 38,384 Icelanders, we have discovered a previously unidentified sick sinus syndrome susceptibility gene, MYH6, encoding the alpha heavy chain subunit of cardiac myosin. A missense variant in this gene, c.2161C>T, results in the conceptual amino acid substitution p.Arg721Trp, has an allelic frequency of 0.38% in Icelanders and associates with sick sinus syndrome with an odds ratio = 1 2.53 and P = 1.5 × 10−29. We show that the lifetime risk of being diagnosed with sick sinus syndrome is around 6% for non-carriers of c.2161C>T but is approximately 50% for carriers of the c.2161C>T variant. PMID:21378987

A case of cetuximab-related tumour lysis syndrome in metastatic rectal carcinoma

PubMed Central

Haroon, Muhammad; Kwong, Whye Yan; Cantwell, Brian; Walker, Frank

2010-01-01

A 60-year-old man was diagnosed with a moderately differentiated adenocarcinoma in November 2006. The computed tomography (CT), magnetic resonance imaging (MRI) and whole-body positron emission tomography–CT (PET–CT) scan showed the presence of multiple liver metastases which were confined to its right lobe. He had the first session of a combined therapy with cetuximab and 5-fluorouracil (5-FU) in March 2009; however, soon afterwards, he presented with the symptoms, signs and biochemistry suggestive of tumour lysis syndrome. Our unusual case highlights that tumour lysis syndrome can also develop in ‘low risk’ category tumours, and that clinicians should be vigilant in identifying at-risk patients. PMID:28657052

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome.

PubMed

Därr, Roland; Nambuba, Joan; Del Rivero, Jaydira; Janssen, Ingo; Merino, Maria; Todorovic, Milena; Balint, Bela; Jochmanova, Ivana; Prchal, Josef T; Lechan, Ronald M; Tischler, Arthur S; Popovic, Vera; Miljic, Dragana; Adams, Karen T; Prall, F Ryan; Ling, Alexander; Golomb, Meredith R; Ferguson, Michael; Nilubol, Naris; Chen, Clara C; Chew, Emily; Taïeb, David; Stratakis, Constantine A; Fojo, Tito; Yang, Chunzhang; Kebebew, Electron; Zhuang, Zhengping; Pacak, Karel

2016-12-01

Worldwide, the syndromes of paraganglioma (PGL), somatostatinoma (SOM) and early childhood polycythemia are described in only a few patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A). This study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings into perspective these experiences with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11-46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8-38) and SOMs at 29 years (range 22-38). PGLs were multiple, recurrent and metastatic in 100, 100 and 29% of all cases, and SOMs in 40, 40 and 60%, respectively. All PGLs were primarily norepinephrine-producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [ 18 F]-fluorodihydroxyphenylalanine ([ 18 F]-FDOPA). Therefore, [ 18 F]-FDOPA PET/CT, not [ 68 Ga]-(DOTA)-[Tyr3]-octreotate ([ 68 Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. © 2016 Society for Endocrinology.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

PubMed

Yimenicioğlu, Sevgi; Yakut, Ayten; Karaer, Kadri; Zenker, Martin; Ekici, Arzu; Carman, Kürşat Bora

2012-12-01

Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients. Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated. Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations. We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.

[MRI and CT-scan in presumed benign ovarian tumors].

PubMed

Thomassin-Naggara, I; Bazot, M

2013-12-01

Radiological examinations are required for the assessment of complex or indeterminate ovarian masses, mainly using MRI and CT-scan. MRI provides better tissue characterization than Doppler ultrasound or CT-scan (LE2). Pelvic MRI is recommended in case of an indeterminate or complex ovarian ultrasonographic mass (grade B). The protocol of a pelvic MRI should include morphological T1 and T2 sequences (grade B). In case of solid portion, perfusion and diffusion sequences are recommended (grade C). In case of doubt about the diagnosis of ovarian origin, pelvic MRI is preferred over the CT-scan (grade C). MRI is the technique of choice for the difference between functional and organic ovarian lesion diagnosis (grade C). It can be useful in case of clinical diagnostic uncertainty between polycystic ovary syndrome and ovarian hyperstimulation and multilocular ovarian tumor syndrome (grade C). No MRI classification for ovarian masses is currently validated. The establishment of a presumption of risk of malignancy is required in a MRI report of adnexal mass with if possible a guidance on the histological diagnosis. In the absence of clinical or sonographic diagnosis, pelvic CT-scan is recommended in the context of acute painful pelvic mass in non-pregnant patients (grade C). It specifies the anomalies and allows the differential diagnosis with digestive and urinary diseases (LE4). Given the lack of data in the literature, the precautionary principle must be applied to the realization of a pelvic MRI in a pregnant patient. A risk-benefit balance should be evaluated case by case by the clinician and the radiologist and information should be given to the patient. In an emergency situation during pregnancy, pelvic MRI is an alternative to CT-scan for the exploration of acute pelvic pain in case of uncertain sonographic diagnosis (grade C). Copyright © 2013. Published by Elsevier Masson SAS.

Polycystic ovary syndrome: association of a C/T single nucleotide polymorphism at tyrosine kinase domain of insulin receptor gene with pathogenesis among lean Japanese women.

PubMed

Kashima, Katsunori; Yahata, Tetsuro; Fujita, Kazuyuki; Tanaka, Kenichi

2013-01-01

To assess whether the insulin receptor (INSR) gene contributes to genetic susceptibility to polycystic ovary syndrome (PCOS) in a Japanese population. We ex-amined the frequency of the His 1058 C/T single nucleotide polymorphism (SNP) found in exon 17 of the INSR gene in 61 Japanese PCOS patients and 99 Japanese healthy controls. In addition, we analyzed the association between the genotype of this SNP and the clinical phenotypes. The frequency of the C/C genotype was not significantly different between all PCOS patients (47.5%) and controls (35.4%). However, among the lean cases (body mass index < or = 20 kg/m2) the frequency of the C/C genotype was significantly increased (p < 0.05) in PCOS patients (65.0%) as compared with controls (36.6%). We concluded that the His 1058 C/T polymorphism at the tyrosine kinase domain of the INSR gene had a relationship to the pathogenesis of lean PCOS patients in a Japanese population.

Novel insights into the polycythemia-paraganglioma-somatostatinoma syndrome

PubMed Central

Därr, Roland; Nambuba, Joan; Del Rivero, Jaydira; Janssen, Ingo; Merino, Maria; Todorovic, Milena; Balint, Bela; Jochmanova, Ivana; Prchal, Josef T.; Lechan, Ronald M.; Tischler, Arthur S.; Popovic, Vera; Miljic, Dragana; Adams, Karen T.; Prall, F. Ryan; Ling, Alexander; Golomb, Meredith R.; Ferguson, Michael; Nilubol, Naris; Chen, Clara C.; Chew, Emily; Taïeb, David; Stratakis, Constantine A.; Fojo, Tito; Yang, Chunzhang; Kebebew, Electron; Zhuang, Zhengping; Pacak, Karel

2016-01-01

The syndrome of paraganglioma (PGL), somatostatinoma (SOM), and early childhood polycythemia in patients with somatic mutations in the hypoxia-inducible factor 2 alpha (HIF2A) gene is described in only a few patients worldwide. The present study provides detailed information about the clinical aspects and course of 7 patients with this syndrome and brings these experiences into perspective with the pertinent literature. Six females and one male presented at a median age of 28 years (range 11–46). Two were found to have HIF2A somatic mosaicism. No relatives were affected. All patients were diagnosed with secondary polycythemia before age 8 and before PGL/SOM developed. PGLs were found at a median age of 17 years (range 8–38) and SOMs at 29 years (range 22–38). PGLs were multiple, recurrent, and metastatic in 100%, 100%, and 29% of all cases, and SOMs in 40%, 40%, and 60%, respectively. All PGLs were primarily norepinephrine producing. All patients had abnormal ophthalmologic findings and those with SOMs had gallbladder disease. Computed tomography (CT) and magnetic resonance imaging revealed cystic lesions at multiple sites and hemangiomas in 4 patients (57%), previously thought to be pathognomonic for von Hippel-Lindau disease. The most accurate radiopharmaceutical to detect PGL appeared to be [18F]-fluorodihydroxyphenylalanine ([18F]-FDOPA). Therefore, [18F]-FDOPA PET/CT, not [68Ga]-(DOTA)-[Tyr3]-octreotate ([68Ga]-DOTATATE) PET/CT is recommended for tumor localization and aftercare in this syndrome. The long-term prognosis of the syndrome is unknown. However, to date no deaths occurred after 6 years follow-up. Physicians should be aware of this unique syndrome and its diagnostic and therapeutic challenges. PMID:27679736

Coronal CT scan measurements and hearing evolution in enlarged vestibular aqueduct syndrome.

PubMed

Saliba, Issam; Gingras-Charland, Marie-Eve; St-Cyr, Karine; Décarie, Jean-Claude

2012-04-01

To assess the correlation between the enlarged vestibular aqueduct (EVA) diameter and (1) the hearing loss level (mild, moderate, severe and profound and (2) the hearing evolution. The secondary objective was to obtain measurement limits on the coronal plane of the temporal bone CT scan for the diagnosis of EVA. Retrospective study in a tertiary pediatric center. Mastoid CT scans were reviewed to measure the VA diameter at its midpoint and operculum on axial and coronal planes in a pathologic and normal population. We used their serial audiograms to assess the evolution of hearing. 101 EVA was identified out of 1812 temporal bones CT scan from our radiologic database in 8 years. Bone conduction was stable after a mean follow-up of 40.9 ± 32.9 months. PTA has been the most affected in time by the EVA (p=0.006). No correlation was identified between impedancemetry and the diameter of the EVA. On the diagnostic audiogram, 61% of hearing loss were in the mild and moderate hearing levels; at the end of the follow-up 64% of hearing loss are still in the mild and moderate hearing levels. The cut-off values for the coronal midpoint and operculum planes on the CT scan to diagnose an EVA are 2.4 mm and 4.34 mm respectively. Conductive or mixed hearing loss might be the first manifestation of EVA. Coronal CT scan cuts can provide additional information to evaluate EVA especially when axial cuts are not conclusive. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Ankle impingement syndromes: an imaging review

PubMed Central

Tafur, Monica; Ahmed, Sonya S; Huang, Brady K; Chang, Eric Y

2017-01-01

Ankle impingement syndromes encompass a broad spectrum of post-traumatic and chronic degenerative changes that present with pain on specific movements about the ankle joint. Both amateur and professional athletes are disproportionately affected by these conditions, and while conservative measures can potentially treat an impingement syndrome, definitive therapy is often alleviated surgically. Imaging (including conventional radiography, ultrasound, CT and MRI) plays an invaluable role in the diagnosis and pre-surgical work-up. An anatomically based classification system is useful in these syndromes, as the aetiology, sites of pathology and preferred treatment methods are similarly based on anatomic locations about the ankle. This review focuses on the anatomic locations, pathophysiology, imaging considerations and brief discussion of therapies for each of the major anatomic ankle impingement syndromes. PMID:27885856

[Vascular malformations in the Williams-Beuren syndrome: report of three new cases].

PubMed

Sator, Hicham; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Rhouni, Fatima Ezzahra; Benjouad, Ibitihale; Dafiri, Rachida; Chat, Latifa

2016-01-01

The Williams-Beuren syndrome is a rare genetic disease. It combines classically specific facial dysmorphism, cardiovascular malformations and specific neuropsychological profile. We report three cases of Williams-Beuren syndrome in children with particular emphasis on vascular abnormalities observed on CT angiography and MR angiography.

Polysplenia syndrome with duodenal and pancreatic dysplasia in a Holstein calf: a case report.

PubMed

Kondoh, Daisuke; Kawano, Tomomi; Kikuchi, Tomoaki; Hatate, Kaoru; Watanabe, Kenichi; Sasaki, Motoki; Yamagishi, Norio; Inokuma, Hisashi; Kitamura, Nobuo

2017-09-29

Laterality disorders of the abdominal organs include situs inversus totalis that mirrors the arrangements of all internal organs and heterotaxy syndrome (situs ambiguus) in which the thoracic or abdominal organs are abnormally arranged. Heterotaxy is often accompanied by multiple congenital malformations, and it generally comprises asplenia and polysplenia syndromes. To our knowledge, polysplenia syndrome has been reported in only three cattle, and computerized tomographic (CT) images of these animals were not obtained. A six-month-old Holstein heifer had ruminal tympani and right abdominal distension. CT imaging showed that the rumen occupied the right side of the abdominal cavity, the omasum and abomasum occupied the left ventral side and the liver was positioned on the left. The colon and cecum were located at the left dorsum of the cavity, and the left kidney was located more cranially than the right. Postmortem findings revealed two spleens attached to the rumen. Significantly, the duodenum was too short to be divided into segments, except the cranial and descending parts, or flexures, except the cranial flexure, and the pancreas, which lacked a left lobe, was covered with mesojejunum. The liver comprised a relatively large right lobe and a small left lobe without quadrate and caudate lobes. The caudal vena cava that connected to the left azygous vein passed irregularly through the aortic hiatus of the diaphragm, and the common hepatic vein without the caudal vena cava passed through the caval foramen. Although the lungs and heart were morphologically normal, the right atrium received three major systemic veins. Polysplenia syndrome was diagnosed based on the CT and postmortem findings. We defined the positions of the abdominal organs and morphological abnormalities in various organs of a calf with polysplenia syndrome based on CT and postmortem findings. These findings will improve understanding of the malpositioning and malformations that can occur in the

[Mutation analysis of seven patients with Waardenburg syndrome].

PubMed

Hao, Ziqi; Zhou, Yongan; Li, Pengli; Zhang, Quanbin; Li, Jiao; Wang, Pengfei; Li, Xiangshao; Feng, Yong

2016-06-01

To perform genetic analysis for 7 patients with Waardenburg syndrome. Potential mutation of MITF, PAX3, SOX10 and SNAI2 genes was screened by polymerase chain reaction and direct sequencing. Functions of non-synonymous polymorphisms were predicted with PolyPhen2 software. Seven mutations, including c.649-651delAGA (p.R217del), c.72delG (p.G24fs), c.185T>C (p.M62T), c.118C>T (p.Q40X), c.422T>C (p.L141P), c.640C>T (p.R214X) and c.28G>T(p.G43V), were detected in the patients. Among these, four mutations of the PAX3 gene (c.72delG, c.185T>C, c.118C>T and c.128G>T) and one SOX10 gene mutation (c.422T>C) were not reported previously. Three non-synonymous SNPs (c.185T>C, c.128G>T and c.422T>C) were predicted as harmful. Genetic mutations have been detected in all patients with Waardenburg syndrome.

Respiratory manifestations in 38 patients with Alström syndrome.

PubMed

Boerwinkle, Caroline; Marshall, Jan D; Bryant, Joy; Gahl, William A; Olivier, Kenneth N; Gunay-Aygun, Meral

2017-04-01

Alström syndrome (AS) is a rare, multi-system condition characterized by retinal degeneration, sensorineural hearing loss, obesity, insulin-resistant diabetes, hypertriglyceridemia, cardiomyopathy, hepatorenal disease, and recurrent respiratory infections. It belongs to a group of genetic disorders known as primary ciliopathies, which includes autosomal dominant and recessive polycystic kidney diseases, as well as Joubert and Bardet-Biedl syndromes. Prior studies have suggested phenotypic overlap between primary ciliopathies affecting the non-motile, sensory cilia, and primary ciliary dyskinesia (PCD), a motile ciliopathy characterized by respiratory tract disease. We describe the burden of oto-sino-pulmonary disease in 38 individuals with AS and examines the degree of clinical overlap between PCD and AS. Evaluation at the NIH Clinical Center included clinical examination, chest imaging, and clinical history surveys, as well as measurement of nasal nitric oxide (nNO) in nine patients. Recurrent otitis media was ubiquitous in the AS cohort (92%) with 50% requiring pressure equalization tube placement. A history of bronchitis/pneumonia and sinusitis was reported in 61% and 50% of individuals, respectively. PCD-characterizing symptoms (laterality defects, unexplained neonatal respiratory distress, year-round nasal congestion, and wet cough) were far less prevalent in the AS cohort compared to PCD, and the average nNO production in the AS cohort was 232 ± 57.1 nl/min compared to a cut-off of <77 nl/min for PCD. These data suggest that the oto-sino-respiratory complications in AS are prominent enough to warrant increased clinical attention, but significantly impaired respiratory cilia function as seen in PCD is unlikely in AS. (www.clinicaltrials.gov, trial NCT00068224) Pediatr Pulmonol. 2017;52:487-493. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

PHACES syndrome associated with carcinoid endobronchial tumor.

PubMed

Mama, Nadia; H'mida, Dorra; Lahmar, Imen; Yacoubi, Mohamed Tahar; Tlili-Graiess, Kalthoum

2014-05-01

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT. This is a unique case of PHACES syndrome associated with carcinoid tumor. Review of the literature revealed 3 cases of PHACES syndrome with glial tumor. The authors tried to find the relationship between PHACES syndrome and carcinoid tumors or gliomas, which all derive from the neural crest cells.

Compartment syndrome of the foot.

PubMed

Andermahr, J; Helling, H J; Tsironis, K; Rehm, K E; Koebke, J

2001-05-01

The hindfoot compartment syndrome occurs in 10% of cases after calcaneal fracture. We analyzed the pathological anatomical reasons for this syndrome using the 10 feet from cadavers plastinated and cut into 4-mm thick sequential sections. CT scans of patients with calcaneal fractures were then compared with the anatomical findings. The key component of this compartment syndrome is the quadratus plantae muscle. The sustentacular calcaneal fragment causes bleeding from the bone or the medial calcaneal arteries into this compartment. The medial and lateral plantar nerves and vessels are then compressed between the quadratus plantae muscle and the short flexor digitorum muscle. Relieving pressure by surgical decompression of the quadratus plantae compartment via a medial or plantar approach is the recommended treatment. Copyright 2001 Wiley-Liss, Inc.

Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily.

PubMed

Panzer, Stephanie; Thompson, Randall C; Hergan, Klaus; Zink, Albert R; Piombino-Mascali, Dario

2018-06-08

The authors report on the assessment of an anthropogenic mummy of a young man from the Capuchin Catacombs of Palermo, Sicily, tentatively dated from the mid- to late 19 th century AD. The mummy was investigated by full-body CT examination. CT images clearly showed aortic dissection classified as Stanford-A. Due to the relation of aortic dissection to inherited connective tissue diseases in young people, such as Marfan syndrome, conspicuous and pathological findings possibly indicating the presence of underlying Marfan syndrome were assessed. Several systemic features were scored that supported the presence of underlying Marfan syndrome in this mummy. These findings were: pectus carinatum and chest asymmetry, dural ectasia, protrusio acetabuli, dolichocephaly, down-slanting palpebral fissures, malar hypoplasia and (probable) reduced elbow extension. Aortic dissection, a cardinal feature of Marfan syndrome, turned out to be the diagnostic key for the paleoradiological diagnosis of this disease. The demonstrated CT findings contribute to the spectrum of cardiovascular diseases and inherited connective tissue disease in the fields of paleopathology and paleoradiology. Copyright © 2018 Elsevier Inc. All rights reserved.

Bone lesions in Chinese POEMS syndrome patients: imaging characteristics and clinical implications.

PubMed

Wang, Fengdan; Huang, Xufei; Zhang, Yan; Li, Jian; Zhou, Daobin; Jin, Zhengyu

2016-01-01

Objective. Bone lesion is crucial for diagnosing and management of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin change (POEMS) syndrome, a rare plasma cell disorder. This study is to compare the effectiveness of X-ray skeletal survey (SS) and computed tomography (CT) for detecting bone lesions in Chinese POEMS syndrome patients, and to investigate the relationship between bone lesion features and serum markers. Methods. SS and chest/abdomen/pelvic CT images of 38 Chinese patients (26 males, 12 females, aged 21-70 years) with POEMS syndrome recruited at our medical center between January 2013 and January 2015 were retrospectively analyzed. Bone lesions identified by CT were further categorized according to the size (<5 mm, 5-10 mm, >10 mm) and appearance (osteosclerotic, lytic, mixed). The percentage of plasma cells in bone marrow smears, type of immunoglobulin, platelet (Plt), and levels of serum bone metabolic markers and inflammatory factors including alkaline phosphatase (ALP), calcium, phosphate, parathyroid hormone (PTH), beta-isomerized C-telopeptide (β-CTx), vascular endothelial growth factor (VEGF), and interleukin (IL)-6 levels were also recorded. Results. Of the 38 POEMS syndrome patients, the immunoglobulin heavy chain isotypes were IgA in 25 patients (65.8%; 25/38) and IgG in 13 patients (34.2%; 13/38), and the light chain isotypes were λ in 35 patients (92.1%; 35/38) and κ in 3 patients (7.9%; 3/38). There were 23 patients with thrombocytosis. More patients with bone lesions were detected by CT than by SS (97.4% vs. 86.8%). The most commonly affected location was the pelvis (89.5%), followed by the spine, clavicle/scapula/sternum/ribs, skull, and long bones. Of the 38 POEMS syndrome patients, 35 (94.6%) had osteosclerotic and 32 (86.5%) had mixed lesions. Osteosclerotic lesions were typically scattered, variable in size, and plaque-like, whereas mixed lesions were pouch-shaped or soup bubble-like with a clear sclerotic

Floating-Harbor syndrome associated with middle ear abnormalities.

PubMed

Hendrickx, Jan-Jaap; Keymolen, Kathelijn; Desprechins, Brigitte; Casselman, Jan; Gordts, Frans

2010-01-01

Floating-Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. A triad of main features characterizes Floating-Harbor syndrome: short stature, characteristic face, and an expressive speech delay. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. High-resolution CT scan of the temporal bone showed a prominent soft-tissue thickening suspected of causing fixation of the malleus, and fusion of the malleus head with the body of the incus. To our knowledge this is the first reported abnormal middle ear anatomy in a patient with Floating-Harbor syndrome. A conservative treatment with hearing aids was preferred as an initial treatment in favor of a surgical exploration.

[Fahr syndrome discovered following a bacterial meningitis].

PubMed

Sbai, H; Smail, L; Hamdani, S; Essatara, Y; Harrandou, M; Khatouf, M; Kanjaa, N

2008-05-01

Fahr's disease refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcifications. The basal ganglia and dentate nucleus are the most common site of involvement and most cases present extrapyramidal symptoms. This disease is mostly associated with a phosphocalcic metabolism disorder, especially to hypoparathyroidism. The authors report a case of Fahr syndrome (FS) discovered when a young patient with hypocalcemia and bacterial meningitis had a cerebral CT scan disclosing intracerebral calcifications. She fully recovered after both meningitis and hypocalcemia were treated.

Neonatal Death Dwarfism in a Girl with Distinctive Bone Dysplasia Compatible with Grebe Chondrodysplasia: Analysis by CT Scan-based Phenotype.

PubMed

Al Kaissi, Ali; Chehida, Farid Ben; Ganger, Rudolf; Grill, Franz

2014-01-01

We report on a female fetus noted to have severe malformative type of skeletal dysplasia on ultrasonography done at 35 weeks gestation. The girl died shortly after birth. Clinical examination showed a fetus with severe dwarfism, extensive long and short bones, and bone deficiencies associated with multiple dislocations. Computed tomography (CT) scan-based phenotype showed a complex constellation of malformations consistent with the diagnosis of Grebe syndrome. Parents being first cousins (consanguineous marriage) strongly suggests autosomal recessive pattern of inheritance. To our knowledge, this is the first report of neonatal death dwarfism of Grebe syndrome analyzed by CT scan-based phenotype.

[Localization of upper airway stricture by CT scan in patients with obstructive sleep apnea syndrome during drug-induced sleeping].

PubMed

Hu, Ji-bo; Hu, Hong-jie; Hou, Tie-ning; Gao, Hang-xiang; He, Jian

2010-03-01

To evaluate the feasibility of multi-slice spiral CT scan to localize upper airway stricture in patients with obstructive sleep apnea syndrome (OSAS) during drug-induced sleeping. One hundred and fourteen patients diagnosed as OSAS by polysomnography were included in the study. Multi-slice spiral CT scan covering upper airway was performed at the end of inspiration and clear upper airway images were obtained in waking. After injecting 5 mg of midazolam intravenously slowly in 109 patients, CT scan was performed at apnea and clear upper airway images were obtained in sleeping. Cross-section area and minimal diameter of airway were measured and the parameters were compared under those two states. Upper airway was displayed intuitionisticly by using post-processing techniques. One hundred and nine patients with OSAS finished the examination with a success rate of 100 %. Airway obstruction at retropalatal level was observed in 62 patients, among whom 26 were associated with airway obstruction at retroglossal level, 27 with narrower airway at retroglossal level in sleeping compared with that in waking, and 9 with no significant change of the airway at retroglossal level after sleeping. Narrower airway at retropalatal level in sleeping compared with that in waking was observed in 40 patients, among whom 20 were associated with narrower airway at retroglossal level in sleeping compared with that in waking, 10 with complete airway obstruction at retroglossal level in sleeping, and 7 with no significant change of the airway at both retropalatal and retroglossal levels before and after sleeping. Minimal mean cross-section area of airway at retropalatal level was (72.60 +/-45.15)mm(2) in waking and (8.26 +/-18.16)mm(2) in sleeping; and minimal mean cross-section area of airway at retroglossal level was (133.21 +/-120.36)mm(2)in waking and (16.73 +/-30.21)mm(2) in sleeping (P <0.01). Minimal mean diameter of airway at retropalatal level was (6.91 +/-2.23) mm in waking and (1

Reversible hemispheric hypoperfusion in two cases of SMART syndrome.

PubMed

Wai, Karmen; Balabanski, Anna; Chia, Nicholas; Kleinig, Timothy

2017-09-01

Stroke-like migraine attacks after radiation therapy (SMART) syndrome manifests as prolonged episodes of cortical dysfunction, years after cranial irradiation. We present two cases demonstrating reversible hemispheric hypoperfusion. Case 1 presented with left hemispheric symptoms following previous similar episodes. CT perfusion (CTP) demonstrated reversible hemispheric hypoperfusion; subsequent investigations were consistent with SMART syndrome. Case 2 presented following the third episode of a hemispheric syndrome with near-identical CTP abnormalities. L-arginine was administered with rapid reversal of clinical and CTP abnormalities. We conclude that SMART syndrome may demonstrate significant hypoperfusion on hyperacute CTP without subsequent infarction. Impaired cerebrovascular autoregulation probably contributes to cortical dysfunction in SMART syndrome. L-arginine warrants investigation as a potential treatment. Copyright © 2017 Elsevier Ltd. All rights reserved.

Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

PubMed

Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

2016-01-01

We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts.

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

PubMed

Carter, Melissa T; Blaser, Susan; Papsin, Blake; Meschino, Wendy; Reardon, Willie; Klatt, Regan; Babul-Hirji, Riyana; Milunsky, Jeff; Chitayat, David

2012-08-01

Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation-proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. Copyright © 2012 Wiley Periodicals, Inc.

Gradenigo's syndrome--surgical management in a child.

PubMed

Humayun, Hassan Nabeel; Akhtar, Shabbir; Ahmed, Shakeel

2011-04-01

Otits media is a common problem. Some of its complications that were seen frequently in the preantibiotic era are rare today. We report a case of an 8 year boy who presented with earache, retro-orbital pain and diplopia secondary to a sixth nerve palsy--Gradenigo's syndrome. In this syndrome infection from the middle ear spreads medially to the petrous apex of the temporal bone. Work-up includes CT scan of the temporal bones. Timely management with intravenous antibiotics (+ surgery) is needed to prevent intra-cranial complications.

Concurrent insulinoma with mosaic Turner syndrome: A case report.

PubMed

Wang, Shaoyun; Yang, Lijuan; Li, Jie; Mu, Yiming

2015-03-01

Turner syndrome is a chromosomal abnormality in which the majority of patients have a 45XO karyotype, while a small number have a 45XO/47XXX karyotype. Congenital adrenal hyperplasia has been previously reported in patients with Turner syndrome. Although insulinomas are the most common type of functioning pancreatic neuroendocrine tumor and have been reported in patients with multiple endocrine neoplasias, the tumors have not been reported in patients with mosaic Turner syndrome. The present study reports the first case of an insulinoma in a patient with 45XO/47XXX mosaic Turner syndrome. The patient suffered from recurrent hypoglycemia, which was relieved following ingestion of glucose or food. A 5-h glucose tolerance test was performed and the levels of glucose, C-Peptide and insulin were detected. In addition, computed tomography (CT) and ultrasound scanning were performed to evaluate the possibility of an insulinoma. Pathological examination and karyotyping were performed on a surgical specimen and a whole blood sample, respectively. The patient was found to suffer from premature ovarian failure, and a physical examination was consistent with a diagnosis of Turner syndrome. An ultrasound scan demonstrated streak ovaries and the patient was found to have a 45XO/47XXX karyotype. Furthermore, a lesion was detected in the pancreas following CT scanning, which was identified as an insulinoma following surgical removal and histological examination. In conclusion, the present study reports the first case of an insulinoma in a patient with mosaic Turner syndrome. Since mosaic Turner syndrome and insulinoma are rare diseases, an association may exist that has not been previously identified.

MTHFR 677C-->T and 1298A-->C polymorphisms in children with Down syndrome and acute myeloid leukemia in Brazil.

PubMed

Amorim, Marcia R; Zanrosso, Crisiane Wais; Magalhães, Isis Q; Pereira, Simone C; Figueiredo, Alexandre; Emerenciano, Mariana; Pinheiro, Vitoria Regia; d'Andréa, Maria Lydia; Orioli, Ieda M; Koifman, Sergio; Pombo-de-Oliveira, Maria S

2008-12-01

Down syndrome (DS) is an important risk factor associated with acute leukemia (AL). The presence of polymorphisms that reduce 5,10-methylenetetrahydrofolate reductase (MTHFR) activity has been linked to the multifactorial leukemogenic process. The authors have conducted a study to test whether 677C-->T and/or 1298A-->C polymorphisms of MTHFR would play an additional role in susceptibility of acute myeloid leukemia (AML) in DS children. They also verified whether any polymorphism in the MTHFR gene was associated with the risk of DS. Genetic polymorphisms determination was carried out in 248 samples from healthy individuals as controls and a total of 115 DS children (65 without leukemia and 50 with AML). The present study failed to reveal any association between these polymorphisms and risk of AML in DS children. The data also indicate that MTHFR polymorphisms are not associated with risk of being a DS child.

Pelvic congestion syndrome and left renal compression syndrome - clinical features and therapeutic approaches.

PubMed

Jeanneret, Christina; Beier, Konstantin; von Weymarn, Alexander; Traber, Jürg

2016-01-01

Knowledge of the anatomy of the pelvic, gonadal and renal veins is important to understand pelvic congestion syndrome (PCS) and left renal vein compression syndrome (LRCS), which is also known as the nutcracker syndrome. LRCS is related to PCS and to the presence of vulvar, vaginal and pudendal varicose veins. The diagnosis of the two syndromes is difficult, and usually achieved with CT- or phlebography. The gold standard is the intravenous pressure measurement using conventional phlebography. The definition of PCS is described as pelvic pain, aggravated in the standing position and lasting for more than 6 months. Pain in the left flank and microhaematuria is seen in patients with LRCS. Women with multiple pregnancies are at increased risk of developing varicose vein recurrences with pelvic drainage and ovarian vein reflux after crossectomy and stripping of the great saphenous vein. The therapeutic options are: conservative treatment (medroxyprogesteron) or interventional (coiling of the ovarian vein) or operative treatment (clipping of the ovarian vein). Controlled prospective trials are needed to find the best treatment.

An unusual case of ectopic ACTH syndrome.

PubMed

Willhauck, M J; Pöpperl, G; Rachinger, W; Giese, A; Auernhammer, C J; Spitzweg, C

2012-02-01

Ectopic ACTH-syndrome is a rare cause of Cushing's disease. Despite extensive diagnostic procedures the source of ACTH secretion often remains occult. This case describes a 45-year old woman with an ectopic Cushing's syndrome. Extensive imaging procedures including CT scan of chest and abdomen, octreotide scan and MRI of the chest and pituitary did not reveal the source of ACTH secretion. In consideration of an occult source of ACTH secretion we started a therapeutic trial with cabergoline (0.5 mg/d), a dopamine receptor agonist, which has been shown to be effective in ectopic Cushing's syndrome. 2 months after cabergoline treatment had been initiated, ACTH and cortisol levels normalized in association with significant improvement of the clinical symptoms. During follow-up a [(68)Ga-DOTA-dPhe(1), Tyr(3)]-octreotate ([(68)Ga-DOTA]-TATE) PET-CT was performed revealing a somatostatin receptor positive lesion in the right sphenoidal sinus suggesting the source of ACTH secretion. The patient was cured by transnasal resection of the polypoid lesion, which was immunohistochemically characterized as an ACTH-positive neuroendocrine tumor. This case report demonstrates the management of ectopic ACTH-syndrome by molecularly -targeted therapy with dopamine receptor -agonists as well as improved detection of the ectopic ACTH source by novel imaging modalities, such as [(68)Ga-DOTA]-TATE PET specifically targeting somatostatin receptor subtype-2 with high affinity. © J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart · New York.

Recurrent renal cancer in Birt-Hogg-Dubé syndrome: A case report.

PubMed

Ather, Hammad; Zahid, Nida

2018-01-01

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant disease. It is caused by constitutional mutations in the FLCN gene. Since BHDS is a rare syndrome therefore it is unknown to many physicians. However, it is important to identify this rare syndrome at early stages because incidence of renal cancer in BHD patients is very high and its detection at early stages can prevent its metastasis. Hence, we want to present a case of BHDS and draw the attention of the treating physician to this rare inherited disorder and discuss its appropriate diagnosis and management. We present a case of a 50-year old male presented to the consulting clinics of a University Hospital with right flank pain since the last 2 months. The Computed Tomography (CT) and biopsy on the right renal mass indicated clear cell type renal cell carcinoma with significant lymphadenopathy. Past history of cystic lung disease and pneumothorax along with positive finding of renal cell carcinoma on CT and biopsy suggested Birt-Hogg-Dub́e (BHD) syndrome. The patient underwent right radical nephrectomy and lymph node dissection. His 3 months post- surgery follow up CT scan indicated disease recurrence. In conclusion, it is important to identify this rare syndrome at early stages. Diagnosis for the patients with a positive family history for renal cell cancer and pneumothorax should be considered. FLCN sequencing should also be taken into account in patients and their families because incidence of renal cancer in BHD patients is very high and detection at early stages can prevent its metastasis. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

CT contrast extravasation in the upper extremity: strategies for management.

PubMed

Sbitany, Hani; Koltz, Peter F; Mays, Chester; Girotto, John A; Langstein, Howard N

2010-01-01

Extravasation of CT scan contrast media into upper extremity subcutaneous tissue is a relatively frequent complication of injection. Potential sequelae of extravasation include compartment syndrome, skin sloughing, and necrosis. Many institutions institute protocols requiring inpatient plastic surgery consultations immediately following extravasation injury to the upper extremity. We hypothesize that conversion to non-ionic contrast media for contrast CT studies has greatly reduced the incidence of severe extravasation injuries, and may alleviate the need for routine hand surgery consultations. Records from 102 consecutive CT contrast media extravasation injuries were identified. Data acquired from a single institution included type and amount of contrast extravasated, anatomic location, post-procedural clinical symptoms, whether consult was obtained, and final recommendations and outcome. In 102 consecutive cases, immediate surgical therapy was necessary in 0. Non-ionic medium was used in 94% of these cases, and ionic dye was used in 6%. Extravasation of less than 100 cc occurred in 90%, and only 10% were greater. Plastic surgery consultation was immediately obtained in 42% of cases. Factors prompting consultation included extravasation >30 cc, and the presence of erythema or induration. Trends for consultation remained without discernable pattern when patients were stratified by age, amount of extravasate, or anatomic location. Conservative management was recommended in all cases. This included elevation of the extremity, frequent pulse and sensation exams, local message, and temporary splinting. There were no secondary complications requiring surgical intervention. Extravasation of non-ionic CT contrast media appears to be innocuous and can be treated with conservative therapy. Plastic surgery consultation should be obtained when there are obvious signs of skin and soft tissue compromise or symptoms of compartment syndrome. Copyright 2010 Surgical Associates Ltd

‘Double cortex’ sign on FDG-PET/CT in diffuse band heterotopia

PubMed Central

Tripathi, Madhavi; Tripathi, Manjari; Kumar, Ganesh; Malhotra, Arun; Bal, Chandra Sekhar

2013-01-01

F-18 Fluorodeoxyglucose (FDG) Positron emission tomography/Computed Tomography (PET/CT) has come to play an increasingly important role for the pre-surgical evaluation of drug resistant epilepsy and complements Magnetic Resonance Imaging (MRI) in the evaluation of grey matter heterotopias. This case illustrates the characteristic pattern of metabolic abnormality in diffuse band heterotopia (DBH) which is otherwise called double cortex syndrome. The presence of metabolic activity in the heterotopic inner cortical band and in the overlying true cortex gives rise to the ‘double cortex’ sign on FDG-PET, concurrent CT provides a good anato-metabolic coregistration. PMID:24379541

A role for 11C-methionine PET imaging in ACTH-dependent Cushing's syndrome.

PubMed

Koulouri, Olympia; Steuwe, Andrea; Gillett, Daniel; Hoole, Andrew C; Powlson, Andrew S; Donnelly, Neil A; Burnet, Neil G; Antoun, Nagui M; Cheow, Heok; Mannion, Richard J; Pickard, John D; Gurnell, Mark

2015-10-01

We report our experience of functional imaging with (11)C-methionine positron emission tomography-computed tomography (PET-CT) co-registered with 3D gradient echo (spoiled gradient recalled (SPGR)) magnetic resonance imaging (MRI) in the investigation of ACTH-dependent Cushing's syndrome. Twenty patients with i) de novo Cushing's disease (CD, n=10), ii) residual or recurrent hypercortisolism following first pituitary surgery (±radiotherapy; n=8) or iii) ectopic Cushing's syndrome (n=2) were referred to our centre for functional imaging studies between 2010 and 2015. Six of the patients with de novo CD and five of those with persistent/relapsed disease had a suspected abnormality on conventional MRI. All patients underwent (11)C-methionine PET-CT. For pituitary imaging, co-registration of PET-CT images with contemporaneous SPGR MRI (1 mm slice thickness) was performed, followed by detailed mapping of (11)C-methionine uptake across the sella in three planes (coronal, sagittal and axial). This allowed us to determine whether suspected adenomas seen on structural imaging exhibited focal tracer uptake on functional imaging. In seven of ten patients with de novo CD, asymmetric (11)C-methionine uptake was observed within the sella, which co-localized with the suspected site of a corticotroph microadenoma visualised on SPGR MRI (and which was subsequently confirmed histologically following successful transsphenoidal surgery (TSS)). Focal (11)C-methionine uptake that correlated with a suspected abnormality on pituitary MRI was seen in five of eight patients with residual or recurrent Cushing's syndrome following first TSS (and pituitary radiotherapy in two cases). Two patients elected to undergo repeat TSS with histology confirming a corticotroph tumour in each case. In two patients with the ectopic ACTH syndrome, (11)C-methionine was concentrated in sites of distant metastases, with minimal uptake in the sellar region. (11)C-methionine PET-CT can aid the detection of

Plasminogen activator inhibitor-1 4G/5G and the MTHFR 677C/T polymorphisms and susceptibility to polycystic ovary syndrome: a meta-analysis.

PubMed

Lee, Young Ho; Song, Gwan Gyu

2014-04-01

The aim of this study was to explore whether the plasminogen activator inhibitor-1 (PAI-1) 4G/5G and the methylenetetrahydrofolate reductase (MTHFR) 677C/T polymorphisms are associated with susceptibility to polycystic ovary syndrome (PCOS). Meta-analyses were conducted to determine the association between the PAI-1 4G/5G and MTHFR 677C/T polymorphisms and PCOS using: (1) allele contrast (2) homozygote contrast, (3) recessive, and (4) dominant models. For meta-analysis, nine studies of the PAI-1 4G/5G polymorphism with 2384 subjects (PCOS, 1615; controls, 769) and eight studies of the MTHFR 677C/T polymorphism with 1270 study subjects were included. Meta-analysis of all study subjects showed no association between PCOS and the PAI-1 4G allele (OR=0.949, 95% CI=0.671-1.343, p=0.767). Stratification by ethnicity, however, indicated a significant association between the PAI-1 4G allele and PCOS in Turkish and Asian populations (OR=0.776, 95% CI=0.602-0.999, p=0.049; OR=1.749, 95% CI=1.297-2.359, p=2.5×10(-5) respectively). In addition, meta-analysis indicated an association between PCOS and the PAI-1 4G4G+4G5G genotype in Europeans (OR=1.406, 95% CI=1.025-1.928, p=0.035). However, meta-analysis of all study subjects showed no association between PCOS and the MTHFR 677T allele (OR=0.998, 95% CI=0.762-1.307, p=0.989), including Europeans (OR=0.806, 95% CI=0.610-1.063, p=0.126). Meta-analysis showed no association between PCOS and the MTHFR 677C/T polymorphism using homozygote contrast, and recessive and dominant models. In conclusion, meta-analysis suggests the PAI-1 4G/5G polymorphism is associated with susceptibility to PCOS in European, Turkish, and Asian populations, but the MTHFR 677C/T polymorphism is not associated with susceptibility to PCOS in Europeans. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Study on the correlation between KCNJ11 gene polymorphism and metabolic syndrome in the elderly.

PubMed

Jiang, Fan; Liu, Ning; Chen, Xiao Zhuang; Han, Kun Yuan; Zhu, Cai Zhong

2017-09-01

The aim of the study was to examine the correlation between KCNJ11 gene polymorphism and metabolic syndrome in elderly patients. From January 2014 to January 2015, 54 elderly patients with metabolic syndrome were enrolled in this study as the observation group. During the same period, 46 healthy elderly individuals were enrolled in this study as the control group. KCNJ11 gene polymorphism (rs28502) was analyzed using polymerase chain reaction-restriction fragment length polymorphism. The expression levels of mRNA in different genotypes were detected using FQ-PCR. ELISA was used to evaluate the KCNJ11 protein expression in different genotypes. KCNJ11 gene polymorphism and metabolic syndrome was studied by measuring the blood pressure levels in patients with different genotypes. Three genotypes of KCNJ11 gene in rs28502 were CC, CT and TT. The CC, CT and TT genotype frequencies in healthy population were 8.5, 9.2 and 82.2%, respectively, while the genotype frequencies in patients with metabolic syndrome were 42.4, 49.8 and 7.8%, respectively. There were significant differences between groups (P≤0.05). However, the genotype frequencies of C/T in healthy individuals and metabolic syndrome patients were 35.3 and 38.3%, respectively. There were no significant differences between groups (P>0.05). FQ-PCR results showed that the KCNJ11 mRNA expression levels in the control and observation groups had no significant differences (P>0.05). However, the results obtained from ELISA analysis revealed that KCNJ11 protein expression level in the observation group was significantly higher than that in the control group (P<0.05). In conclusion, KCNJ11 gene polymorphism is associated with metabolic syndrome in the elderly. Elderly patients with the CC and TT genotypes are more likely to develop metabolic syndrome.

Association of achondroplasia with Down syndrome: difficulty in prenatal diagnosis by sonographic and 3-D helical computed tomographic analyses.

PubMed

Kaga, Akimune; Murotsuki, Jun; Kamimura, Miki; Kimura, Masato; Saito-Hakoda, Akiko; Kanno, Junko; Hoshi, Kazuhiko; Kure, Shigeo; Fujiwara, Ikuma

2015-05-01

Achondroplasia and Down syndrome are relatively common conditions individually. But co-occurrence of both conditions in the same patient is rare and there have been no reports of fetal analysis of this condition by prenatal sonographic and three-dimensional (3-D) helical computed tomography (CT). Prenatal sonographic findings seen in persons with Down syndrome, such as a thickened nuchal fold, cardiac defects, and echogenic bowel were not found in the patient. A prenatal 3-D helical CT revealed a large head with frontal bossing, metaphyseal flaring of the long bones, and small iliac wings, which suggested achondroplasia. In a case with combination of achondroplasia and Down syndrome, it may be difficult to diagnose the co-occurrence prenatally without typical markers of Down syndrome. © 2014 Japanese Teratology Society.

MTHFR c.677C>T is a risk factor for non-syndromic cleft lip with or without cleft palate in Chile.

PubMed

Ramírez-Chau, C; Blanco, R; Colombo, A; Pardo, R; Suazo, J

2016-10-01

The functional variant within the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene c.677C>T, producing alterations in folate metabolism, has been associated with the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). We assessed this association in a Chilean population using a combined analysis of case-control and case-parent trio samples. Samples of 165 cases and 291 controls and 121 case-parent trios (sharing the cases) were genotyped. Odds ratio (OR) was estimated for case-control (allele and genotype frequency differences), and this result was confirmed by allele transmission distortion in trios. Due to that these samples are not independent, a combined OR was also computed. Maternal genotype effect was additionally evaluated based on a log-linear method. Borderline but not significant OR (1.28; CI 0.97-1.69) was observed for risk allele (T) in the case-control sample. However, triad sample showed a significant association (OR 1.56: CI 1.09-2.25) which was confirmed by the combined OR (1.37; CI 1.11-1.71). Maternal genotype has been also associated with the phenotype (P = 0.002). In contrast to previous reports considering Chilean subjects, our results demonstrated that the offspring and maternal genotypes for MTHFR c.677C>T variant are strongly associated with NSCL/P in this Chilean population. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

PubMed Central

2012-01-01

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly

[Trismus, pseudobulbar syndrome and cerebral deep venous thrombosis].

PubMed

Alecu, C; De Bray, J M; Penisson-Besnier, I; Pasco-Papon, A; Dubas, F

2001-03-01

We report a case of cerebral deep venous thrombosis that manifested clinically by a pseudobulbar syndrome with major trismus, abnormal movements and static cerebellar syndrome. To our knowledge, only three other cases of deep cerebral venous thrombosis associated with cerebellar or pseudobulbar syndrome have been published since 1985. The relatively good prognosis in our patient could be explained by the partially intact internal cerebral veins as well as use of early anticoagulant therapy. There was a spontaneous hyperdensity of the falx cerebri and the tentorium cerebelli on the brain CT scan, an aspect highly contributive to diagnosis. This hyperdensity of the falx cerebri was found in 19 out of 22 cases of deep venous thrombosis detailed in the literature.

[Posterior ankle impingement syndrome].

PubMed

Bojanić, Ivan; Janjić, Tamara; Dimnjaković, Damjan; Križan, Sanja; Smoljanović, Tomislav

2015-01-01

Posterior ankle impingement syndrome (PAIS) is a clinical syndrome characterized by posterior ankle pain which occurs in maximal forced plantar flexion of the foot. PAIS can be the result of an acute injury of the ankle, which is more often in general population, or it can be the result of the overuse syndrome, which is more often in athletes and ballet dancers. The etiology of PAIS may involve bony structures or soft tissue structures, or, more often, the combination of both. The diagnosis of PAIS is based on patient's clinical history and physical examination with the hyperplantarflexion test as a very important part of it. Physical examination should be completed with imaging techniques, which most often include magnetic resonance imaging (MRI) or computed tomography (CT) to confirm the diagnosis of PAIS. Conservative treatment is recommended as the primary treatment strategy. In those cases where 3 to 6 months of conservative treatment fails, open or, more often, arthroscopic/endoscopic surgery may be recommended. Nowadays, a 2-portal endoscopic approach introduced by van Dijk et al. in 2000 is the method of choice for the treatment of posterior ankle impingement syndrome.

Diagnosing neuroleukemiosis: Is there a role for 18F-FDG-PET/CT?

PubMed

Sabaté-Llobera, A; Cortés-Romera, M; Gamundí-Grimalt, E; Sánchez-Fernández, J J; Rodríguez-Bel, L; Gámez-Cenzano, C

An imaging case is presented on a patient referred to our department for an 18 F-FDG-PET/CT, as a paraneoplastic syndrome was suspected due to his clinical situation. He had a history of acute myeloid leukemia (AML) treated two years earlier, with sustained complete remission to date. 18 F-FDG-PET/CT findings revealed hypermetabolism in almost all nerve roots, suggesting meningeal spread, consistent with the subsequent MRI findings. Cerebrospinal fluid (CSF) findings confirmed a leptomeningeal reactivation of AML. Although not many studies have evaluated the role of 18 F-FDG-PET/CT in leukemia, it is a noninvasive tool for detecting extramedullary sites of disease and a good imaging alternative for those patients on whom an MRI cannot be performed. Copyright © 2017 Elsevier España, S.L.U. y SEMNIM. All rights reserved.

Five novel ALMS1 gene mutations in six patients with Alström syndrome.

PubMed

Kılınç, Suna; Yücel-Yılmaz, Didem; Ardagil, Aylin; Apaydın, Süheyla; Valverde, Diana; Özgül, Rıza Köksal; Güven, Ayla

2018-05-01

Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously. Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.

Inner ear abnormalities in patients with Goldenhar syndrome.

PubMed

Bisdas, Sotirios; Lenarz, Minoo; Lenarz, Thomas; Becker, Hartmut

2005-05-01

The objective of this study is to investigate the inner ear malformations in patients with Goldenhar syndrome and to hypothesize the potential embryopathogenesis of these malformations. Retrospective case review. Tertiary referral center. Fourteen patients with Goldenhar syndrome. Each patient underwent hearing tests and high-resolution computed tomography (CT) of the temporal bone. In six patients, magnetic resonance imaging of the temporal bone also was performed. Among the 14 patients with Goldenhar syndrome, 13 had outer and middle ear anomalies and 5 (36%) had inner ear malformations, including one case of common cavity. Our observations regarding inner ear anomalies in Goldenhar syndrome correlate with the reported cases in the literature and may help to hypothesize the embryological origin of these malformations, which can caused by an early developmental arrest in the fourth gestational week. Specialists evaluating patients with Goldenhar syndrome should be aware of the possibility of inner ear malformations, which could be diagnosed earlier with appropriate imaging studies.

68Ga DOTA-TATE PET/CT allows tumor localization in patients with tumor-induced osteomalacia but negative 111In-octreotide SPECT/CT.

PubMed

Breer, Stefan; Brunkhorst, Thomas; Beil, F Timo; Peldschus, Kersten; Heiland, Max; Klutmann, Susanne; Barvencik, Florian; Zustin, Jozef; Gratz, Klaus-Friedrich; Amling, Michael

2014-07-01

Tumor-induced osteomalacia (TIO) is a paraneoplastic syndrome characterized by renal phosphate wasting, hypophosphatemia and low calcitriol levels as well as clinical symptoms like diffuse bone and muscle pain, fatigue fractures or increased fracture risk. Conventional imaging methods, however, often fail to detect the small tumors. Lately, tumor localization clearly improved by somatostatin-receptor (SSTR) imaging, such as octreotide scintigraphy or octreotide SPECT/CT. However, recent studies revealed that still a large number of tumors remained undetected by octreotide imaging. Hence, studies focused on different SSTR imaging methods such as 68Ga DOTA-NOC, 68Ga DOTA-TOC and 68Ga DOTA-TATE PET/CT with promising first results. Studies comparing different SSTR imaging methods for tumor localization in TIO are rare and thus little is known about diagnostic alternatives once a particular method failed to detect a tumor in patients with TIO. Here, we report the data of 5 consecutive patients suffering from TIO, who underwent both 111Indium-octreotide scintigraphy (111In-OCT) SPECT/CT as well as 68Ga DOTA-TATE PET/CT for tumor detection. While 111In-OCT SPECT/CT allowed tumor detection in only 1 of 5 patients, 68Ga DOTA-TATE PET/CT was able to localize the tumor in all patients. Afterwards, anatomical imaging of the region of interest was performed with CT and MRI. Thus, successful surgical resection of the tumor was achieved in all patients. Serum phosphate levels returned to normal and all patients reported relief of symptoms within weeks. Moreover, an iliac crest biopsy was obtained from every patient and revealed marked osteomalacia in all cases. Follow-up DXA revealed an increase in BMD of up to 34.5% 1-year postoperative, indicating remineralization. No recurrence was observed. In conclusion our data indicates that 68Ga DOTA-TATE PET/CT is an effective and promising diagnostic tool in the diagnosis of TIO, even in patients in whom 111In-OCT prior failed to detect

Pilot Study to Confirm that Fat and Liver can be Distinguished by Spectroscopic Tissue Response on a Medipix-All-Resolution System-CT (MARS-CT)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Berg, Kyra B.; Anderson, Nigel G.; Butler, Alexandra P.

2009-07-23

NAFLD, liver component of the 'metabolic' syndrome, has become the most common liver disease in western nations. Non-invasive imaging techniques exist, but have limitations, especially in detection and quantification of mild to moderate fatty liver. In this pilot study, we produced attenuation curves from biomedical-quality projection images of liver and fat using the MARS spectroscopic-CT scanner. Difficulties obtaining attenuation spectra after reconstruction demonstrated that standard reconstruction programs do not preserve spectral information.

Pilot Study to Confirm that Fat and Liver can be Distinguished by Spectroscopic Tissue Response on a Medipix-All-Resolution System-CT (MARS-CT)

NASA Astrophysics Data System (ADS)

Berg, Kyra B.; Carr, James M.; Clark, Michael J.; Cook, Nick J.; Anderson, Nigel G.; Scott, Nicola J.; Butler, Alexandra P.; Butler, Philip H.; Butler, Anthony P.

2009-07-01

NAFLD, liver component of the "metabolic" syndrome, has become the most common liver disease in western nations. Non-invasive imaging techniques exist, but have limitations, especially in detection and quantification of mild to moderate fatty liver. In this pilot study, we produced attenuation curves from biomedical-quality projection images of liver and fat using the MARS spectroscopic-CT scanner. Difficulties obtaining attenuation spectra after reconstruction demonstrated that standard reconstruction programs do not preserve spectral information.

Metastatic Basal cell carcinoma accompanying gorlin syndrome.

PubMed

Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

2014-01-01

Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome.

Clival Malformations in CHARGE Syndrome.

PubMed

Mahdi, E S; Whitehead, M T

2018-06-01

CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome. In this retrospective study, the CT/MR imaging data base at a single academic children's hospital was queried for the phrase "CHARGE syndrome" during a 17-year period (2001-2017). Electronic medical records were reviewed to confirm the diagnosis. Images were assessed for skull base anomalies, specifically clival hypoplasia and dysplasia. The search yielded 42 examinations (21 CTs and 21 MRIs) from 15 distinct patients (mean age, 4.1 ± 5.6 years; range, 2 days to 19 years). CHARGE syndrome diagnosis was confirmed either by clinical and genetic testing ( n = 6) or by clinical diagnosis only ( n = 9). A coronal clival cleft was identified in 87% of patients (37 examinations, n = 13 patients), either partial (53%) or complete (33%). Clival hypoplasia without clefting was present in all 5 examinations from the remaining 2 patients. Clival pathology is universal in CHARGE syndrome. Coronal clival clefts are extremely common, representing a useful additional diagnostic finding. Detection of a clival cleft should alert the radiologist to examine the palate, choana, eyes, ears, and olfactory centers for other signs of CHARGE syndrome. © 2018 by American Journal of Neuroradiology.

Patient with confirmed LEOPARD syndrome developing multiple melanoma

PubMed Central

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis. PMID:29445579

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

PubMed

Colmant, Caroline; Franck, Deborah; Marot, Liliane; Matthijs, Gert; Sznajer, Yves; Blomme, Sandrine; Tromme, Isabelle

2018-01-01

LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.

Normal Weight Obese syndrome: role of single nucleotide polymorphism of IL-1 5Ralpha and MTHFR 677C-->T genes in the relationship between body composition and resting metabolic rate.

PubMed

Di Renzo, L; Bigioni, M; Bottini, F G; Del Gobbo, V; Premrov, M G; Cianci, R; De Lorenzo, A

2006-01-01

We have identified a subset of metabolically obese, but normal weight individuals, with potentially increased risks of developing the metabolic syndrome, despite their normal body mass index. We determined the relationship among body fat distribution, resting metabolic rate (RMR), total body water amount (%TBW), selected gene polymorphism on interleukin-15 receptor-alpha (IL-15Ralpha) and methylenetetrahydrofolate reductase 677C-->T (MTHFR 677C-->T), to distinguish normal weight obese (NWO) from nonobese with a normal metabolic profile and obese individuals. We analysed anthropometric variables, body composition by Dual energy X-ray Absorptiometry (DXA), RMR by indirect calorimetry, %TBW by bioimpedence analysis (BIA), MTHFR 677C-->T and IL-15Ralpha genotypes of 128 clinically healthy Caucasian individuals. We compared a group of female, defined as NWO and characterised by a BMI < or = 25 kg/m(2) and FM > or = 30% with groups of others female, and males, represented by nonobese with a BMI < or = 25 kg/m(2) and FM < or = 30%, and preobese-obese individuals with BMI > or = 25 kg/m(2) and %FM > or = 30%; none of the males was classified as NWO. Significant correlations were found among body fat mass distribution, metabolic variables, percentage of total body water distribution and selected genetic variations. The variables that contributed significantly to the separation of classes were body tissue (Tissue), %TBW, RMR, the volumes of both oxygen (VO2) and carbon dioxide (VCO2). The distribution of MTHFR 677C-->T and IL-15 genotypes was significantly different between classes. Our data highlight that NWO individuals showed a significant relationship between the decrease in the basal metabolism (RMR), body fat mass increasing and total water amount. Possession of wild type homozygotes genotypes regarding IL-15Ralpha cytokine and 677C-->T MTHFR enzyme characterised NWO individuals.

Acute organic brain syndrome: a review of 100 cases.

PubMed

Purdie, F R; Honigman, B; Rosen, P

1981-09-01

A retrospective review of 100 admissions to Denver General Hospital with a diagnosis of acute organic brain syndrome was conducted. A total of 44% of the patients were found to have a chronic organic brain syndrome with a superimposed acute insult which caused decompensation. The other 56% of patients developed acute organic brain syndromes de novo for a variety of reasons. The most common etiologic factors producing decompensation of the chronic OBS were infections (in 23%) and environmental changes (in 17%). The most common etiologic factor causing AOBS de novo was drug-related. In most cases, a toxicologic screen, lumbar puncture, and CT scan of the brain should be a part of the investigation of any patient with AOBS.

What neuropsychology tells us about human tool use? The four constraints theory (4CT): mechanics, space, time, and effort.

PubMed

Osiurak, François

2014-06-01

Our understanding of human tool use comes mainly from neuropsychology, particularly from patients with apraxia or action disorganization syndrome. However, there is no integrative, theoretical framework explaining what these neuropsychological syndromes tell us about the cognitive/neural bases of human tool use. The goal of the present article is to fill this gap, by providing a theoretical framework for the study of human tool use: The Four Constraints Theory (4CT). This theory rests on two basic assumptions. First, everyday tool use activities can be formalized as multiple problem situations consisted of four distinct constraints (mechanics, space, time, and effort). Second, each of these constraints can be solved by the means of a specific process (technical reasoning, semantic reasoning, working memory, and simulation-based decision-making, respectively). Besides presenting neuropsychological evidence for 4CT, this article shall address epistemological, theoretical and methodological issues I will attempt to resolve. This article will discuss how 4CT diverges from current cognitive models about several widespread hypotheses (e.g., notion of routine, direct and automatic activation of tool knowledge, simulation-based tool knowledge).

White matter disease severity of the brain and its association with geriatric syndromes.

PubMed

Alagiakrishnan, Kannayiram; Hsueh, Jenny; Zhang, Edwin; Khan, Khurshid; Senthilselvan, Ambikaipakan

2013-11-01

White matter disease (WMD) of the brain is considered to be secondary to small vessel ischemia and can be a single unifying risk factor for the development of geriatric syndromes. The aim of our study was to investigate the association of the global and regional severity of WMD in the brain with geriatric syndromes burden. In our retrospective study, consecutive outpatient charts from patients seen between January 2010 and June 2011 at University of Alberta Hospital Seniors Clinic were reviewed. Subjects with brain computed tomography (CT) scans were included in the study. Subjects with incomplete information or with diseases that confounded WMD assessment on CT were excluded. White matter disease was quantified on CT using Wahlund scoring. A multiple linear regression analysis was conducted to determine the association of WMD severity with geriatric syndromes burden after controlling for confounding vascular risk factors. Of the 505 subjects, 326 (64.6%) were women. Mean age of the study patients was 79.8 years (SD ± 7.04), prevalence of WMD disease was 79.4%, and mean WMD score was 5.1 (SD ± 4.4). In subjects aged < and > 80 years, the mean number of geriatric syndromes was 2.83 (standard error of the mean [SE] 0.08) and 3.22 (SE 0.08), respectively. In the adjusted regression analysis, there was a significant association between WMD severity, globally (regression coefficient (β) = 0.457, SE 0.155; P = 0.003), as well as WMD in specific regions: frontal (P < 0.001), parieto-occipital (P = 0.004), and infratentorial regions (P = 0.04) with geriatric syndromes burden. The association remains even after correcting for age, sex, and all vascular risk factors. In our study, there was a significant association between the severity of global and selected regional WMD of the brain with geriatric syndromes burden, thus raising the possibility of a shared biologic association through vascular pathology of the brain.

Detecting Regional Myocardial Abnormalities in Patients With Wolff-Parkinson-White Syndrome With the Use of ECG-Gated Cardiac MDCT.

PubMed

Lee, Hye-Jeong; Uhm, Jae-Sun; Joung, Boyoung; Hong, Yoo Jin; Hur, Jin; Choi, Byoung Wook; Kim, Young Jin

2016-04-01

Myocardial dyskinesia caused by the accessory pathway and related reversible heart failure have been well documented in echocardiographic studies of pediatric patients with Wolff-Parkinson-White (WPW) syndrome. However, the long-term effects of dyskinesia on the myocardium of adult patients have not been studied in depth. The goal of the present study was to evaluate regional myocardial abnormalities on cardiac CT examinations of adult patients with WPW syndrome. Of 74 patients with WPW syndrome who underwent cardiac CT from January 2006 through December 2013, 58 patients (mean [± SD] age, 52.2 ± 12.7 years), 36 (62.1%) of whom were men, were included in the study after the presence of combined cardiac disease was excluded. Two observers blindly evaluated myocardial thickness and attenuation on cardiac CT scans. On the basis of CT findings, patients were classified as having either normal or abnormal findings. We compared the two groups for other clinical findings, including observations from ECG, echocardiography, and electrophysiologic study. Of the 58 patients studied, 16 patients (27.6%) were found to have myocardial abnormalities (i.e., abnormal wall thinning with or without low attenuation). All abnormal findings corresponded with the location of the accessory pathway. Patients with abnormal findings had statistically significantly decreased left ventricular function, compared with patients with normal findings (p < 0.001). The frequency of regional wall motion abnormality was statistically significantly higher in patients with abnormal findings (p = 0.043). However, echocardiography documented structurally normal hearts in all patients. A relatively high frequency (27.6%) of regional myocardial abnormalities was observed on the cardiac CT examinations of adult patients with WPW syndrome. These abnormal findings might reflect the long-term effects of dyskinesia, suggesting irreversible myocardial injury that ultimately causes left ventricular dysfunction.

Mazabraud's syndrome: case report and literature review

PubMed Central

Munksgaard, Peter Svenssen; Salkus, Giedrius; Iyer, Victor V; Fisker, Rune Vincents

2013-01-01

Mazabraud's syndrome is a rare disorder characterized by the association of single or multiple intramuscular myxomas with fibrous dysplasia. Here, we present the first case of Mazabraud's syndrome visualized on 18F-FDG PET/CT with histopathological confirmation of the myxoma. Our case demonstrates a slightly increased FDG uptake (SUVmax 2.1) within the myxomas and a moderately to highly increased tracer uptake (SUVmax 7.0) within the fibrous dysplastic lesions. The typical histological appearance of the intramuscular myxoma confirmed the radiological diagnosis. Further, we discuss the imaging findings and the histopathological features of this rare case with a review of the related literature. PMID:24198959

[Radiological diagnostics in CUP syndrome].

PubMed

Kazmierczak, P M; Nikolaou, K; Rominger, A; Graser, A; Reiser, M F; Cyran, C C

2014-02-01

, diffusion), e.g. investigation of breast carcinoma or prostate carcinoma. Whole body staging stands at the beginning of the diagnostic algorithm in CUP syndrome to localize a potential primary tumor. Clinically, contrast-enhanced CT of the neck, thorax and abdomen is frequently applied; however, many studies have demonstrated augmented sensitivity of (18)F-FDG PET-CT for the detection of primary tumors and metastatic tumor manifestations.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

PubMed

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Systemic mastocytosis: CT and US features of abdominal manifestations.

PubMed

Avila, N A; Ling, A; Worobec, A S; Mican, J M; Metcalfe, D D

1997-02-01

To study the imaging findings in patients with systemic mastocytosis and to correlate the findings with the severity of disease on the basis of an established classification system. Pathologic findings, when available, were correlated with imaging findings. Computed tomographic (CT) and ultrasound (US) scans and corresponding pathologic findings, when available, were retrospectively reviewed in 27 patients with systemic mastocytosis. Only five (19%) of the patients in our series had normal abdominal CT and/or US examination results. Common abdominal imaging findings associated with systemic mastocytosis were hepatosplenomegaly, retroperitoneal adenopathy, periportal adenopathy, mesenteric adenopathy, thickening of the omentum and the mesentery, and ascites. Less common findings included hepatofugal portal venous flow, Budd-Chiari syndrome, cavernous transformation of the portal vein, ovarian mass, and complications such as chloroma. The findings were more common in patients with category II and those with category III disease. Abdominal findings at CT and US are common in patients with systemic mastocytosis. Although the findings in patients with systemic mastocytosis are not specific to the disease, they are useful in directing further studies for diagnostic confirmation and in estimating the extent of systemic involvement.

A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.

PubMed

Heidari, Mohammad Mehdi; Khatami, Mehri; Kargar, Saeed; Azari, Mojdeh; Hoseinzadeh, Hassan; Fallah, Hamedeh

2016-06-01

Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Iranian family clinically affected with Kindler syndrome. The mutations analysis of 15 coding exons of KIND1 gene was performed with PCR-SSCP and direct sequencing in 14 subjects from one Iranian family clinically affected with Kindler syndrome. We identified eight new nucleotide changes in KIND1 in this family. These changes were found in g.3892delA, g.3951T>C, g.3962T>G, g.4190G>T, g.7497G>A, g.11076T>C, g.11102C>T and g.13177C>T positions. Among them, the g.13177C>T mutation resulting in the formation of a premature stop codon (Q226X) was detected only in seven affected family individuals as homozygous but was not present in 100 unrelated healthy controls. This study suggests that nonsense mutation may lead to incomplete and non-functional protein products and is pathogenic and has meaningful implications for the diagnosis of patients with Kindler syndrome.

[Sturge-Weber syndrome].

PubMed

Maruani, Annabel

2010-04-01

Facial port-wine stains are capillary malformations, which can reveal, very rarely, Sturge-Weber syndrome (SWS). SWS is a severe neurocutaneous syndrome, which involves a facial port-wine stain reaching the first branch of trigeminal nerve (V1), ophthalmologic abnormalities (especially congenital glaucoma) and neurologic signs (seizure, mental retardation, hemiparesis). Neuroimaging (CT-scan/angio-magnetic resonance imaging [MRI]) provides the diagnosis of SWS, when it shows ipsilateral leptomeningeal angioma; the best age to perform the exam is not established. Extension to superior eyelid, to other territories of trigeminal nerve (V2, V3) or to the contralateral hemiface is statistically associated to SWS. When a new-born has a facial port-wine stain reaching V1, ophthalmologic examination must be performed in the first months of life, as well as neuroimaging (at the age of 6-12 months, earlier in case of neurologic signs); a treatment of the port-wine stain by pulsed dye laser must also be considered. (c) 2010. Published by Elsevier Masson SAS.

Follow-up brain imaging of 37 children with congenital Zika syndrome: case series study

PubMed Central

Aragao, Maria de Fatima Vasco; van der Linden, Vanessa; Parizel, Paul; Jungmann, Patricia; Araújo, Luziany; Abath, Marília; Fernandes, Andrezza; Brainer-Lima, Alessandra; Holanda, Arthur; Mello, Roberto; Sarteschi, Camila; Duarte, Maria do Carmo Menezes Bezerra

2017-01-01

Objective To compare initial brain computed tomography (CT) scans with follow-up CT scans at one year in children with congenital Zika syndrome, focusing on cerebral calcifications. Design Case series study. Setting Barão de Lucena Hospital, Pernambuco state, Brazil. Participants 37 children with probable or confirmed congenital Zika syndrome during the microcephaly outbreak in 2015 who underwent brain CT shortly after birth and at one year follow-up. Main outcome measure Differences in cerebral calcification patterns between initial and follow-up scans. Results 37 children were evaluated. All presented cerebral calcifications on the initial scan, predominantly at cortical-white matter junction. At follow-up the calcifications had diminished in number, size, or density, or a combination in 34 of the children (92%, 95% confidence interval 79% to 97%), were no longer visible in one child, and remained unchanged in two children. No child showed an increase in calcifications. The calcifications at the cortical-white matter junction which were no longer visible at follow-up occurred predominately in the parietal and occipital lobes. These imaging changes were not associated with any clear clinical improvements. Conclusion The detection of cerebral calcifications should not be considered a major criterion for late diagnosis of congenital Zika syndrome, nor should the absence of calcifications be used to exclude the diagnosis. PMID:29030384

Metastatic Basal Cell Carcinoma Accompanying Gorlin Syndrome

PubMed Central

Bilir, Yeliz; Gokce, Erkan; Ozturk, Banu; Deresoy, Faik Alev; Yuksekkaya, Ruken; Yaman, Emel

2014-01-01

Gorlin-Goltz syndrome or basal cell nevus syndrome is an autosomal dominant syndrome characterized by skeletal anomalies, numerous cysts observed in the jaw, and multiple basal cell carcinoma of the skin, which may be accompanied by falx cerebri calcification. Basal cell carcinoma is the most commonly skin tumor with slow clinical course and low metastatic potential. Its concomitance with Gorlin syndrome, resulting from a mutation in a tumor suppressor gene, may substantially change morbidity and mortality. A 66-year-old male patient with a history of recurrent basal cell carcinoma was presented with exophthalmus in the left eye and the lesions localized in the left lateral orbita and left zygomatic area. His physical examination revealed hearing loss, gapped teeth, highly arched palate, and frontal prominence. Left orbital mass, cystic masses at frontal and ethmoidal sinuses, and multiple pulmonary nodules were detected at CT scans. Basal cell carcinoma was diagnosed from biopsy of ethmoid sinus. Based on the clinical and typical radiological characteristics (falx cerebri calcification, bifid costa, and odontogenic cysts), the patient was diagnosed with metastatic skin basal cell carcinoma accompanied by Gorlin syndrome. Our case is a basal cell carcinoma with aggressive course accompanying a rarely seen syndrome. PMID:25506011

Mounier Kuhn syndrome presenting with recurrent atelectasis.

PubMed

Quentin, Christine; Lefevre, Nicolas; Bodart, Eddy; Hanssens, Laurence

2017-09-11

Objective and importance Mounier Kuhn syndrome is usually diagnosed in adulthood, and only a few cases have been described in childhood. Clinical presentation We present the case of a seven-year-old boy suffering from recurrent pneumonia and atelectasis. Intervention Previously performed chest X-rays showed bilateral hyperinflation and tracheobronchomegaly. Chest computed tomography (CT) confirmed the presence of distal enlargement of trachea and bronchi. Tracheobronchomegaly associated with recurrent respiratory tract infections is consistent with Mounier Kuhn syndrome. Pseudomonas aeruginosa was isolated from the sputum of the patient. He was then treated according to the guidelines for P. aeruginosa management in cystic fibrosis patients considering the similarities in clinical presentations and pathophysiology of both diseases. Antibiotic treatment resulted in a remarkable reduction of events of pulmonary exacerbation and hospitalizations. There are no specific guidelines for treatment options in case of pulmonary exacerbation of Mounier Kuhn syndrome. Case reports discussing the choice and efficiency of antibiotic treatment are random. Conclusion headings We share our experience of treating pulmonary exacerbation caused by P. aeruginosa in a patient with Mounier Kuhn syndrome suggesting a possible treatment option of pseudomonas infections in this syndrome.

Diagnostic value of CT, PET and combined PET/CT performed with low-dose unenhanced CT and full-dose enhanced CT in the initial staging of lymphoma.

PubMed

Pinilla, I; Gómez-León, N; Del Campo-Del Val, L; Hernandez-Maraver, D; Rodríguez-Vigil, B; Jover-Díaz, R; Coya, J

2011-10-01

The aim of this paper was to compare the accuracy of contrast-enhanced computed tomography (CT), positron emission tomography (PET), unenhanced low-dose PET/CT (LD-PET/CT) and full-dose enhanced PET/CT (FD-PET/CT) for the initial staging of lymphoma. One hundred and one lymphoma patients were examined by [18F]FDG-PET/CT including unenhanced low-dose CT and enhanced full-dose CT. Each modality of PET/CT was evaluated by a nuclear medicine physician and a radiologist unaware of the other modality, while the CT and PET images were interpreted separately by another independent radiologist and nuclear medicine physician respectively. The nodal and extranodal lesions detected by each technique were compared with a reference standard. For nodal assessment, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), positive likelihood ratio (LR+), and negative LR (LR-) of LD-PET/CT were 97%, 96%, 98%, 95%, 26 and 0.02 respectively, and those of FD-PET/CT were 97%, 97%, 98%, 95%, 36 and 0.02. These results were significantly better than those of PET (sensitivity 82%, specificity 81%, PPV 88%, NPV 72%, LR+ 4.3, LR- 0.21). Likewise, both PET/CT displayed a higher sensitivity, NPV and LR- than CT (91%, 84%, 0.1 respectively). For organ evaluation, both modalities of PET/CT also had significantly better sensitivity and NPV than that of PET (LD-PET/CT: sensitivity 92%, NPV 90%; FD-PET/CT sensitivity 94%, NPV 92%; PET: sensitivity 70%, NPV 69%). The sensitivity, specificity, PPV and NPV for bone marrow involvement were 29%, 84%, 45% and 72% respectively for PET, and 29%, 90%, 56%, and 74% for both, LD-PET/CT, and FD-PET/CT. No significant differences were found between LD-PET/CT and FD-PET/CT, but FD-PET/CT detected important incidental findings in 5.9% of patients. PET/CT is an accurate technique for the initial staging of lymphomas without significant differences between LD-PET/CT and FD-PET/CT. FD-PET/CT detects relevant incidental findings

[Prenatal diagnosis of the Dandy-Walker syndrome using sonography and computed tomography].

PubMed

Tölly, E; Ebner, F; Oberbauer, R W

1984-07-01

A case of Dandy-Walker-syndrome is presented, comparing the value of sonography and CT in intrauterine diagnosis. Together with a review of the literature of the subject, pathogenesis, morphology and prognosis in regard to the psychomotoric development are discussed.

Pheochromocytoma as a rare cause of hypertension in a 46 X, i(X)(q10) turner syndrome: a case report and literature review.

PubMed

Shin, Ji Yeon; Kim, Bo Hyun; Kim, Young Keum; Kim, Tae Hwa; Kim, Eun Heui; Lee, Min Jin; Kim, Jong Ho; Jeon, Yun Kyung; Kim, Sang Soo; Kim, In Joo

2018-05-10

Cardiovascular disease (CVD) presents the most serious health problems and contributes to the increased mortality in young women with Turner syndrome. Arterial hypertension in Turner syndrome patients is significantly more prevalent than that in a general age-matched control group. The aetiology of hypertension in Turner syndrome varies, even in the absence of cardiac anomalies and obvious structural renal abnormalities. Pheochromocytoma is an extremely rare cause among various etiologies for hypertension in patients with Turner syndrome. Here, we reported a pheochromocytoma as a rare cause of hypertension in Turner syndrome patient. A 21-year-old woman who has diagnosed with Turner syndrome with a karyotype of 46,X,i(X)(q10) visited for hypertension and mild headache. Transthoracic echography (TTE) showed no definite persistent ductus arteriosus shunt flow and cardiac valve abnormalities. Considering other important secondary causes like pheochromocytoma, hormonal studies were performed and the results showed increased serum norepinephrine, serum normetanephrine, and 24 h urine norepinephrine. We performed an abdominal computed tomography (CT) to confirm the location of pheochromocytoma. Abdominal CT showed a 1.9 cm right adrenal mass. I-131 meta-iodobenzylguanidine (MIBG) scintigraphy showed a right adrenal uptake. Laparoscopic adrenalectomy was performed and confirmed a pheochromocytoma. After surgery, blood pressure was within normal ranges and postoperative course was uneventful, and no recurrence developed via biochemical tests and abdominal CT until 24 months. Our case and previous literatures suggest that hypertension caused by pheochromocytoma which is a rare but important and potentially lethal cause of hypertension in Turner syndrome. This case underlines the importance of early detection of pheochromocytoma in Turner syndrome. Clinicians should keep in mind that pheochromocytoma can be a cause of hypertension in patients with Turner syndrome.

Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.

PubMed

Yoshida, Kazue; Hayashi, Ryota; Fujita, Hideki; Kubota, Masaya; Kondo, Mai; Shimomura, Yutaka; Niizeki, Hironori

2015-07-01

Cleft lip/palate-ectodermal dysplasia syndrome is a rare, autosomal recessive disorder caused by homozygous loss-of-function mutations of the poliovirus receptor-like 1 (PVRL1) gene encoding nectin-1. Nectin-1 is a cell-cell adhesion molecule that is important for the initial step in the formation of adherens junctions and tight junctions; it is expressed in keratinocytes, neurons, and the developing face and palate. Clinical manifestations comprise a unique facial appearance with cleft lip/palate, ectodermal dysplasia, cutaneous syndactyly of the fingers and/or toes, and in some cases, mental retardation. We present the first report, to our knowledge, of an Asian individual with cleft lip/palate-ectodermal dysplasia syndrome with a novel PVRL1 mutation. A 7-year-old Japanese boy, the first child of a consanguineous marriage, showed hypohidrotic ectodermal dysplasia with sparse, brittle, fine, dry hair and hypodontia, the unique facial appearance with cleft lip/palate, cutaneous syndactyly of the fingers and mild mental retardation. Scanning electron microscopic examination of the hair demonstrated pili torti and pili trianguli et canaliculi. Mutation analysis of exon 2 of PVRL1 revealed a novel homozygous nonsense mutation, c.400C>T (p.Arg134*). His parents were heterozygous for the mutant alleles. All four PVRL1 mutations identified in cleft lip/palate-ectodermal dysplasia syndrome to date, including this study, resulted in truncated proteins that lack the transmembrane domain and intracellular domain of nectin-1, which is necessary to initiate the cell-cell adhesion process. © 2015 Japanese Dermatological Association.

Management of the orbital floor in silent sinus syndrome.

PubMed

Thomas, Robert D; Graham, Scott M; Carter, Keith D; Nerad, Jeffrey A

2003-01-01

Enophthalmos in a patient with an opacified hypoplastic maxillary sinus, without sinus symptomatology, describes the silent sinus syndrome. A current trend is to perform endoscopic maxillary antrostomy and orbital floor reconstruction as a single-staged operation. A two-staged approach is performed at our institution to avoid placement of an orbital floor implant in the midst of potential infection and allow for the possibility that enophthalmos and global ptosis may resolve with endoscopic antrostomy alone, obviating the need for orbital floor reconstruction. A retrospective review identified four patients with silent sinus syndrome evaluated between June 1999 and August 2001. Patients presented to our ophthalmology department with ocular asymmetry, and computerized tomography (CT) scanning confirmed the diagnosis in each case. There were three men and one woman, with ages ranging from 27 to 40 years. All patients underwent endoscopic maxillary antrostomy. Preoperative enophthalmos determined by Hertel's measurements ranged from 3 to 4 mm. After endoscopic maxillary antrostomy, the range of reduction in enophthalmos was 1-2 mm. Case 2 had a preoperative CT scan and a CT scan 9 months after left endoscopic maxillary antrostomy. Volumetric analysis of the left maxillary sinus revealed a preoperative volume of 16.85 +/- 0.06 cm3 and a postoperative volume of 19.56 +/- 0.07 cm3. This represented a 16% increase in maxillary sinus volume postoperatively. Orbital floor augmentation was avoided in two patients because of satisfactory improvement in enophthalmos. In the other two patients, orbital reconstruction was performed as a second-stage procedure. There were no complications. Orbital floor augmentation can be offered as a second-stage procedure for patients with silent sinus syndrome. Some patients' enophthalmos may improve with endoscopic antrostomy alone.

The MMP-9 -1562 C/T Polymorphism in the Presence of Metabolic Syndrome Increases the Risk of Clinical Events in Patients with Coronary Artery Disease

PubMed Central

Opstad, Trine B.; Arnesen, Harald; Pettersen, Alf Å.; Seljeflot, Ingebjørg

2014-01-01

Background and Objectives Elevated levels of matrix metalloproteinase (MMP)-9 have been associated with the metabolic syndrome (MetS) and cardiovascular events. The MMP-9 −1562 C/T polymorphism has furthermore been shown as a risk factor for coronary artery disease (CAD). The non-favourable cardiometabolic state in MetS may increase the risk. We aimed to investigate the influence of MMP-9 −1562 C/T polymorphism in subjects with CAD and MetS. Methods Patients (n = 1000) with verified CAD stratified in Mets +/− (n = 244/756), were analyzed for the MMP-9 −1562 C/T polymorphism and related to clinical events after 2 years follow-up. Serum levels of total MMP-9 and tissue inhibitor of matrix metalloproteinases (TIMP)-1were analyzed in all, whereas MMP-9 activity, extracellular matrix metalloproteinase inducer (EMMPRIN), and expression of the two genes were analyzed in a subset of 240 randomly selected patients. Results Totally, 106 clinical endpoints were recorded. In MetS; the T-allele associated with 5.5 fold increase in event rate (p<0.0001), increased with number of MetS components, a 117% increase in total MMP-9 levels (TT homozygous, p = 0.05), significantly higher total- and endogenous active MMP-9 and TIMP-1 levels (p<0.01 all), and EMMPRIN was inversely correlated with pro- and endogenous active MMP-9 (p<0.05, both). In non-MetS; the T-allele was not associated with new events, nor higher MMP-9 levels. EMMPRIN was significantly correlated with total MMP-9 and TIMP-1 (p<0.01, both) and the two genes were inter-correlated (p<0.001). Conclusion In CAD patients with MetS, the MMP-9 T-allele increased the risk of clinical events, probably mediated through elevated MMP-9 levels and altered MMP-9 regulation. PMID:25191702

The MMP-9 -1562 C/T polymorphism in the presence of metabolic syndrome increases the risk of clinical events in patients with coronary artery disease.

PubMed

Opstad, Trine B; Arnesen, Harald; Pettersen, Alf Å; Seljeflot, Ingebjørg

2014-01-01

Elevated levels of matrix metalloproteinase (MMP)-9 have been associated with the metabolic syndrome (MetS) and cardiovascular events. The MMP-9 -1562 C/T polymorphism has furthermore been shown as a risk factor for coronary artery disease (CAD). The non-favourable cardiometabolic state in MetS may increase the risk. We aimed to investigate the influence of MMP-9 -1562 C/T polymorphism in subjects with CAD and MetS. Patients (n = 1000) with verified CAD stratified in Mets +/- (n = 244/756), were analyzed for the MMP-9 -1562 C/T polymorphism and related to clinical events after 2 years follow-up. Serum levels of total MMP-9 and tissue inhibitor of matrix metalloproteinases (TIMP)-1 were analyzed in all, whereas MMP-9 activity, extracellular matrix metalloproteinase inducer (EMMPRIN), and expression of the two genes were analyzed in a subset of 240 randomly selected patients. Totally, 106 clinical endpoints were recorded. In MetS; the T-allele associated with 5.5 fold increase in event rate (p<0.0001), increased with number of MetS components, a 117% increase in total MMP-9 levels (TT homozygous, p = 0.05), significantly higher total- and endogenous active MMP-9 and TIMP-1 levels (p<0.01 all), and EMMPRIN was inversely correlated with pro- and endogenous active MMP-9 (p<0.05, both). In non-MetS; the T-allele was not associated with new events, nor higher MMP-9 levels. EMMPRIN was significantly correlated with total MMP-9 and TIMP-1 (p<0.01, both) and the two genes were inter-correlated (p<0.001). In CAD patients with MetS, the MMP-9 T-allele increased the risk of clinical events, probably mediated through elevated MMP-9 levels and altered MMP-9 regulation.

Low-dose CT for quantitative analysis in acute respiratory distress syndrome

DTIC Science & Technology

2013-08-31

noise of scans performed at 140, 60, 15 and 7.5 mAs corresponded to 10, 16, 38 and 74 Hounsfield Units , respectively. Conclusions: A reduction of...slice of a series, total lung volume, total lung tissue mass and frequency distribution of lung CT numbers expressed in Hounsfield Units (HU) were...tomography; HU: Hounsfield units ; CTDIvol: volumetric computed tomography dose index; DLP: dose length product; E: effective dose; SD: standard deviation

CT-based Diagnosis of Diffuse Coronary Artery Disease on the Basis of Scaling Power Laws

PubMed Central

Huo, Yunlong; Wischgoll, Thomas; Choy, Jenny Susana; Sola, Srikanth; Navia, Jose L.; Teague, Shawn D.; Bhatt, Deepak L.

2013-01-01

Purpose: To provide proof of concept for a diagnostic method to assess diffuse coronary artery disease (CAD) on the basis of coronary computed tomography (CT) angiography. Materials and Methods: The study was approved by the Cleveland Clinic Institutional Review Board, and all subjects gave informed consent. Morphometric data from the epicardial coronary artery tree, determined with CT angiography in 120 subjects (89 patients with metabolic syndrome and 31 age- and sex-matched control subjects) were analyzed on the basis of the scaling power law. Results obtained in patients with metabolic syndrome and control subjects were compared statistically. Results: The mean lumen cross-sectional area (ie, lumen cross-sectional area averaged over each vessel of an epicardial coronary artery tree) and sum of intravascular volume in patients with metabolic syndrome (0.039 cm2 ± 0.015 [standard deviation] and 2.71 cm3 ± 1.75, respectively) were significantly less than those in control subjects (0.054 cm2± 0.015 and 3.29 cm3± 1.77, respectively; P < .05). The length-volume power law showed coefficients of 27.0 cm−4/3 ± 9.0 (R2 = 0.91 ± 0.08) for patients with metabolic syndrome and 19.9 cm−4/3 ± 4.3 (R2 = 0.92 ± 0.07) for control subjects (P < .05). The probability frequency shows that more than 65% of patients with metabolic syndrome had a coefficient of 23 or more for the length-volume scaling power law, whereas approximately 90% of the control subjects had a coefficient of less than 23. Conclusion: The retrospective scaling analysis provides a quantitative rationale for diagnosis of diffuse CAD. © RSNA, 2013 Supplemental material: http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.13122181/-/DC1 PMID:23616633

Homicide and Klinefelter syndrome: a complex interaction.

PubMed

Richard-Devantoy, Stéphane; Jollant, Fabrice; Bouyer-Richard, Anne-Isabelle; Lhuillier, Jean-Paul; Gorwood, Philip

2014-01-01

Several studies have shown an association between homicide and sexual chromosomal abnormalities, but data are still lacking regarding Klinefelter syndrome. We retrospectively reviewed two cases of homicide perpetrators who were both diagnosed with Klinefelter syndrome on the basis of a karyotype analysis. A neurocognitive assessment was also performed (MMSE, Frontal Assessment Battery, brain CT, and electroencephalogram). Numerous intermediate risk factors of homicide were shared by our two cases, including dispositional (male gender, young age, low socioeconomic status), historical (prior arrest record and past conviction for any offense), contextual (unemployment), and clinical (alcohol abuse). It is important that clinicians go beyond obvious risk factors, such as chromosomal abnormalities, to pinpoint other meaningful risk factors and potentially facilitate preventive approaches.

Head CT scan

MedlinePlus

Brain CT; Cranial CT; CT scan - skull; CT scan - head; CT scan - orbits; CT scan - sinuses; Computed tomography - cranial; CAT scan - brain ... conditions: Birth (congenital) defect of the head or brain Brain infection Brain tumor Buildup of fluid inside ...

Chest MR imaging in the follow-up of pulmonary alterations in paediatric patients with middle lobe syndrome: comparison with chest X-ray.

PubMed

Fraioli, F; Serra, G; Ciarlo, G; Massaccesi, V; Liberali, S; Fiorelli, A; Macrì, F; Catalano, C

2013-04-01

The authors evaluated the role of magnetic resonance (MR) imaging of the chest in comparison with chest X-ray in the follow-up of pulmonary abnormalities detected by computed tomography (CT) in paediatric patients with middle lobe syndrome. Seventeen patients with middle lobe syndrome (mean age 6.2 years) underwent chest CT at the time of diagnosis (100 kV, CARE dose with quality reference of 70 mAs; collimation 24×1.2 mm; rotation time 0.33 s; scan time 5 s); at follow-up after a mean of 15.3 months, all patients were evaluated with chest MR imaging with a respiratory-triggered T2-weighted BLADE sequence (TR 2,000; TE 27 ms; FOV 400 mm; flip angle 150°; slice thickness 5 mm) and chest X-ray. Images from each modality were assessed for the presence of pulmonary consolidations, bronchiectases, bronchial wall thickening and mucous plugging. Hilar and mediastinal lymphadenopathies were assessed on CT and MR images. Baseline CT detected consolidations in 100% of patients, bronchiectases in 35%, bronchial wall thickening in 53% and mucous plugging in 35%. MR imaging and chest X-ray identified consolidations in 65% and 35%, bronchiectases in 35% and 29%, bronchial wall thickening in 59% and 6% and mucous plugging in 25% and 0%, respectively. Lymphadenopathy was seen in 64% of patients at CT and in 47% at MR imaging. Patients with middle lobe syndrome show a wide range of parenchymal and bronchial abnormalities at diagnosis. Compared with MR imaging, chest X-ray seems to underestimate these changes. Chest MR imaging might represent a feasible and radiation-free option for an overall assessment of the lung in the follow-up of patients with middle lobe syndrome.

Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?

PubMed

Hing, Anne V; Click, Eleanor S; Holder, Ursula; Seto, Marianne L; Vessey, Kyle; Gruss, Joseph; Hopper, Richard; Cunningham, Michael L

2009-05-01

Multisutural craniosynostosis that includes bilateral lambdoid and sagittal synostosis (BLSS) results in a very characteristic head shape with frontal bossing, turribrachycephaly, biparietal narrowing, occipital concavity, and inferior displacement of the ears. This entity has been reported both in the genetics literature as craniofacial dyssynostosis and in the surgical literature as "Mercedes Benz" syndrome. Craniofacial dyssynostosis was first described in 1976 by Dr. Neuhauser when he presented a series of seven patients with synostosis of the sagittal and lambdoid sutures, short stature, and developmental delay. Over the past 30 years nine additional patients with craniofacial dyssynostosis have been reported in the literature adding to the growing evidence for a distinct craniosynostosis syndrome. The term "Mercedes Benz" syndrome was coined by Moore et al. in 1998 due to the characteristic appearance of the fused sutures on three-dimensional CT imaging. In contrast to the aforementioned reported cases of craniofacial dyssynostosis, all three patients had normal development. Recently, there have been several case reports of patients with BLSS and distinct chromosomal anomalies. These findings suggest that BLSS is a heterogeneous disorder perhaps with syndromic, chromosomal, and isolated forms. In this manuscript we will present the largest series of patients with BLSS and review clinical, CT, and molecular findings.

De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

PubMed

Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

2014-06-01

Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Ectopic ACTH and CRH co-secreting tumor localized by 68Ga-DOTA-TATE PET/CT

PubMed Central

Papadakis, Georgios Z.; Bagci, Ulas; Sadowski, Samira M.; Patronas, Nicholas J.; Stratakis, Constantine A.

2015-01-01

Diagnosis of ectopic adrenocorticotropic hormone (ACTH) and corticotropin releasing hormone (CRH) co-secreting tumors causing Cushing syndrome (CS) is challenging, since these tumors are rare and their diagnosis is frequently confused with Cushing disease (CD), due to the effect of CRH on the pituitary. We report a case of a 21-year-old male who was referred to our institution with persistent hypercortisolemia and CS after undergoing unnecessary transsphenoidal surgery (TSS). 68Ga-DOTA-TATE PET/CT revealed increased tracer uptake in the thymus which was histologically proved to be neuroendocrine tumor (NET) staining positive for ACTH and CRH. Imaging with 18F-FDG PET/CT was not diagnostic. PMID:26018709

[Lemierre's syndrome: Diagnosis, exploration, treatment].

PubMed

Mesrar, H; Mesrar, J; Maillier, B; Kraoua, S; Chapoutot, L; Delclaux, B

2018-05-01

Lemierre's syndrome is a rare and severe sepsis that can rapidly lead to a life-threatening condition in the absence of early management. This syndrome described at the beginning of the 20th century combines oropharyngeal infection complicated with septic thrombosis of the internal jugular vein and septic emboli predominantly pulmonary. Fusobacterium necrophorum, anaerobic germ, Gram negative bacillus is the main germ in this "necrobacillosis". The diagnosis is should be confirmed precociously with cervicothoracic CT-scan, reference exam, and bacteriological examinations (especially in atypical forms). Its management consists of an emergency antibiotic treatment, combining a third-generation cephalosporin or a betalactam with metronidazole, anticoagulant therapy to be reserved for high-risk situations related to thrombosis. Surgical treatment may be required. Copyright © 2017 Société Nationale Française de Médecine Interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Development of a genotyping microarray for Usher syndrome.

PubMed

Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner-Glindzicz, Maria; Webster, Andrew R; Saihan, Zubin; De Baere, Elfride; Leroy, Bart P; Silvestri, Giuliana; McKay, Gareth J; Koenekoop, Robert K; Millan, Jose M; Rosenberg, Thomas; Joensuu, Tarja; Sankila, Eeva-Marja; Weil, Dominique; Weston, Mike D; Wissinger, Bernd; Kremer, Hannie

2007-02-01

Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein-coding exons. To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele-specific oligonucleotides corresponding to all 298 Usher syndrome-associated sequence variants known to date, 76 of which are novel, were arrayed. Approximately half of these variants were validated using original patient DNAs, which yielded an accuracy of >98%. The efficiency of the Usher genotyping microarray was tested using DNAs from 370 unrelated European and American patients with Usher syndrome. Sequence variants were identified in 64/140 (46%) patients with Usher syndrome type I, 45/189 (24%) patients with Usher syndrome type II, 6/21 (29%) patients with Usher syndrome type III and 6/20 (30%) patients with atypical Usher syndrome. The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A. The Usher genotyping microarray is a versatile and affordable screening tool for Usher syndrome. Its efficiency will improve with the addition of novel sequence variants with minimal extra costs, making it a very useful first-pass screening tool.

SPECT/CT imaging in general orthopedic practice.

PubMed

Scharf, Stephen

2009-09-01

The availability of hybrid devices that combine the latest single-photon emission computed tomography (SPECT) imaging technology with multislice computed tomography (CT) scanning has allowed us to detect subtle, nonspecific abnormalities on bone scans and interpret them as specific focal areas of pathology. Abnormalities in the spine can be separated into those caused by pars fractures, facet joint arthritis, or osteophyte formation on vertebral bodies. Compression fractures can be distinguished from severe degenerative disease, both of which can cause intense activity across the spine on either planar or SPECT imaging. Localizing activity in patients who have had spinal fusion can provide tremendous insight into the causes of therapeutic failures. Infections of the spine now can be diagnosed with gallium SPECT/CT, despite the fact that gallium has long been abandoned because of its failure to detect spine infection on either planar or SPECT imaging. Small focal abnormalities in the feet and ankles can be localized well enough to make specific orthopedic diagnoses on the basis of their location. Moreover, when radiographic imaging provides equivocal or inadequate information, SPECT/CT can provide a road map for further diagnostic studies and has been invaluable in planning surgery. Our ability to localize activity within a bone or at an articular surface has allowed us to distinguish between fractures and joint disease. Increased activity associated with congenital anomalies, such as tarsal coalition and Bertolotti's syndrome have allowed us to understand the pathophysiology of these conditions, to confirm them as the cause of the patient's symptoms, and to provide information that is useful in determining appropriate clinical management. As our experience broadens, SPECT/CT will undoubtedly become an important tool in the evaluation and management of a wider variety of orthopedic patients.

Does microtia predict severity of temporal bone CT abnormalities in children with persistent conductive hearing loss?

PubMed

Tekes, Aylin; Ishman, Stacey L; Baugher, Katherine M; Brown, David J; Lin, Sandra Y; Tunkel, David E; Unalp-Arida, Aynur; Huisman, Thierry A G M

2013-07-01

This study aimed to determine the spectrum of temporal bone computed tomography (CT) abnormalities in children with conductive hearing loss (CHL) with and without microtia. From 1993 to 2008, a total of 3396 pediatric records including CHL were reviewed at our institution and revealed 180 cases of persistent CHL, 46 of whom had diagnostic temporal bone CT examinations. All of these examinations were systematically reviewed by two pediatric neuroradiologists, working in consensus, who had 5 and 18 years, respectively, of dedicated pediatric neuroradiology experience. Of the 46 children, 16 were boys and 30 were girls (age: 0.2-16 years; mean: 5 years). Also, 21 (46%) children had microtia and 25 (54%) children did not, as determined by clinical evaluation. External auditory canal atresia/stenosis (EAC-A/S) was the most common anomaly in both microtia and non-microtia groups. Two or more anomalies were observed in 18/21 children with microtia. The frequency of EAC-A/S was greater in children with microtia versus those without it (86% versus 32%, respectively; P = 0.0003). Syndromic diagnoses were also significantly more frequently made in children with microtia versus those without microtia (76% versus 20%, respectively; P = 0.0001). Temporal bone CT scans were normal in 10 children (22%) with persistent CHL. Microtia is an important finding in children with CHL. EAC and middle ear/ossicle anomalies were significantly more frequently seen in children with microtia, and multiple anomalies and bilateral microtia were more common in children with syndromic associations. These findings highlight the importance of understanding the embryological development of the temporal bone. The presence of one anomaly should raise suspicion of the possibility of other anomalies, especially in the setting of microtia. Bilateral microtia and multiple anomalies should also raise suspicion of genetic syndromes. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

Dandy-Walker syndrome studied by computed tomography and pneumoencephalography

DOE Office of Scientific and Technical Information (OSTI.GOV)

Masdeu, J.C.; Dobben, G.D.; Azar-Kia, B.

1983-04-01

Based on air studies, some authors have disputed the ability of computed tomography (CT) to diagnose posterior fossa cysts. The authors correlated the pneumoencephalographic, CT, and pathological findings in 4 patients with classic Dandy-Walker syndrome. Three cases had been misdiagnosed as retrocerebellar arachnoid cysts because the fourth ventricle was incorrectly considered normal on brow-up or erect air studies, reflecting the inability of such studies to evaluate an agenetic vermis and deficient posterior medullary velum which are characteristic of Dandy-Walker malformation. Careful correlation with autopsy findings showed that even with complete agenesis of the inferior vermis, if the slit between themore » cerebellar hemispheres is narrow, the fourth ventricle could be misinterpreted as normal on pneumoencephalography and sagittal CT. Radionuclide studies, a small amount of air, or metrizamide may be needed to determine whether the cyst communicates with the subarachnoid space.« less

Prospective evaluation of 68 Ga-DOTATATE PET/CT in limited disease neuroendocrine tumors and/or elevated serum neuroendocrine biomarkers.

PubMed

Gabriel, Sophie; Garrigue, Philippe; Dahan, Laetitia; Castinetti, Frédéric; Sebag, Frédéric; Baumstark, Karine; Archange, Cendrine; Abhishek, Jha; Pacak, Karel; Guillet, Benjamin; Taïeb, David

2018-05-22

The 68 Ga-labelled somatostatin analogues ( 68 Ga-DOTA-SSAs) is becoming popular as an important diagnostic tool in neuroendocrine tumors as evidenced by a growing number of reports detailing institutional experience with various DOTA peptides. However, only few prospective studies have compared 68 Ga-DOTA-SSAs and somatostatin receptor scintigraphy (SRS) in gastroenteropancreatic neuroendocrine tumors (GEP-NETs) and pulmonary neuroendocrine tumors. The aim of our prospective study was to perform head-to-head comparison between 68 Ga-DOTATATE PET/CT and standard imaging work-up (SI) that included multiphasic CT, liver MRI, and SRS using single photon emission computed tomography. In this prospective study, the patients were enrolled only if they met any of the following inclusion criteria were: i- initial staging of a NETs without distant metastases on SI or neuroendocrine tumor with unknown primary on SI; ii-restaging of NETs that could be treated by focused therapeutic interventions; iii- elevated serum neuroendocrine hormones or peptides. The exclusion criteria was grade 3 GEP-NETs. Thirty-two patients were enrolled in the study. Eleven patients (6 pancreas, 4 ileum, 1 duodenal) were included for initial evaluation and staging of NETs, 8 patients (5 pancreas, 1 ileal, 1 lung, 1 duodenal gastrinoma) for restaging, and 13 patients for elevated serum neuroendocrine biomarkers (5 ectopic Cushing's syndrome, 5 organic hypoglycemia, 1 patient each with elevated vasoactive inhibitory peptide, chromogranin A, and neuron-specific enolase). 68 Ga-DOTATATE PET/CT detected more primary tumors than SRS (15/18 vs 10/18: p=0.074). The missed tumors on 68 Ga-DOTATATE PET/CT were located in the lung in 2 cases and duodenum in 1 case. For other anatomical regions (nodal and distant metastasis), no statistical difference was observed between imaging modalities using 68 Ga-DOTATATE PET/CT and SRS. Overall, 68 Ga-DOTATATE PET/CT+CT+MRI detected 31/33 of the involved regions

Chorioretinal dysplasia, hydranencephaly, and intracranial calcifications: pseudo-TORCH or a new syndrome?

PubMed

Watts, P; Kumar, N; Ganesh, A; Sastry, P; Pilz, D; Levin, A V; Chitayat, D

2008-05-01

To report the association of severe chorioretinal dysplasia, hydranencephaly, microcephaly, and intracranial calcification in children with no evidence of intrauterine infections. Two unrelated female infants with visually inattentive behaviour, hydranencephaly, and intracranial calcification were referred for an ophthalmological opinion. The fundus examination and computerised tomograms (CT scans) of head were similar in both children. There was bilateral extensive chorioretinal dysplasia, intracranial calcifications, and hydranencephaly. Serology was negative for acquired intrauterine congenital infections. We report two cases that may represent a new syndrome or the more severe end of the spectrum of the pseudo-TORCH (toxoplasma, rubella, cytomegalovirus, and herpes simplex) syndrome. The association of chorioretinal dysplasia with the pseudo-TORCH syndrome has not been reported previously.

Late onset seizures, hemiparesis and blindness in hemolytic uremic syndrome.

PubMed

Bennett, B; Booth, T; Quan, A

2003-03-01

Neurologic complications of hemolytic uremic syndrome, including seizures, usually occur early during the acute phase of the illness. We report a3-year-old girl with classic diarrhea-associated hemolytic uremic syndrome who developed late onset seizures, hemiparesis and transient blindness on the 17th hospital day, at which time her recovery was characterized by improvement in her blood pressure, serum electrolytes, renal function, hematocrit and platelet count. A CT and MR revealed brainstem and posterior parietal and occipital infarct/edema. The association of these radiologic findings within the posterior distribution along with visual loss and seizures are unique to posterior reversible encephalopathy syndrome. Within 7 days, she regained motor function and vision and had no further seizure activity. At 6 months follow-up, physical examination revealed normal motor function and vision and a repeat MR showed near resolution of the previous findings with minimal occipital lobe gliosis. This case report describes the uncommon finding of late onset seizures occurring during the recovery phase of hemolytic uremic syndrome with MR findings consistent with posterior reversible encephalopathy syndrome.

Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT.

PubMed

Hassan, Aamna; Khalid, Madeeha; Khawar, Saquib

2016-01-01

Melorheostosis is a benign, noninheritable bone dysplasia characterized by its classic radiographic features of dense, flowing hyperostosis. It frequently affects one limb, usually the lower extremity and rarely the axial skeleton. A 26-year-old lady with obesity, polycystic ovarian syndrome and scalp dandruff presented with a long standing history of upper extremity pain and inability to adduct the arm completely. A Tc-99m MDP whole body and SPECT/CT scan performed for suspected fibrous dysplasia showed increased radiotracer uptake in densely sclerotic humeral and radial melorheostosis. This case highlighted the role of SPECT/CT imaging in this rare condition.

[A case of Kartagener's syndrome].

PubMed

Ishiga, Takeshi; Tanigawa, Motoaki; Ichioka, Maresuke; Saito, Kimimasa

2005-03-01

This case describes a 57-year-old woman in whom situs inversus had been noted at her birth. She had bronchial asthma and bilateral sinusitis during her childhood. She married and experienced childbirth. In December 2003, she was admitted to our Division complaining of wheezing, expectoration and dyspnea on effort. Bronciectasis was visualized on chest X-ray and CT. Electron microscopic examination of the nasal cavity epithelium and bronchial epithelial cilia revealed a deficit of bilateral dynein arms. These findings, helped establish a diagnosis of Kartagener's syndrome, which is characterized by primary ciliary dyskinesia. The restrictive and obstructive pulmonary dysfunction with increase of residual volume in the lung function tests and diffuse centrilobular small nodules with hyperinflation on chest CT were consistent with the findings of diffuse panbronchilitis (DPB) and suggested extended obliterative peripheral airway disease. Clarithromycin which is highly effective for DPB failed to prevent the aggravation of airway infection, arousing the concern about the progression into chronic respiratory failure.

Biopsy of CT-Occult Bone Lesions Using Anatomic Landmarks for CT Guidance.

PubMed

Hillen, Travis J; Talbert, Robert J; Friedman, Michael V; Long, Jeremiah R; Jennings, Jack W; Wessell, Daniel E; Baker, Jonathan C

2017-07-01

The purpose of this study is to evaluate the histopathologic diagnostic yield, sample size, procedural time, and dose-length product (DLP) for the biopsy of CT-occult lesions found at MRI or PET or both. A retrospective review of our radiology information system for biopsies of CT-occult lesions using CT guidance from January 1, 2010, through December 31, 2014, was performed and compared with a selection of CT-guided biopsies of CT-evident bone lesions during the same period. The data were then evaluated for diagnostic yield of histopathologic diagnosis, procedural time, use of sedation medication, DLP, and size of specimens obtained. A total of 30 CT-occult biopsies met the inclusion criteria. Twenty-seven of those biopsies had results that were concordant with the patient's primary histopathologic diagnosis, imaging findings, and clinical course. In the CT-evident lesion group, concordant histopathologic abnormalities were identified in 27 of 30 patients. There was a statistically significant increase in number of samples obtained for the CT-evident lesions compared with CT-occult lesions. There was no statistically significant difference in total specimen length, DLP, number of CT scans, procedural time, or use of sedation medication between the CT-occult and CT-evident biopsy groups. Biopsy of CT-occult lesions using anatomic landmarks achieves diagnostic yields similar to those for CT-guided biopsy of CT-evident lesions.

Hyperperfusion syndrome after trapping with high-flow bypass for a giant paraclinoid internal carotid artery aneurysm.

PubMed

Mohri, Masanao; Ichinose, Toshiya; Uchiyama, Naoyuki; Misaki, Kouichi; Nambu, Iku; Takabatake, Yasushi; Nakada, Mitsutoshi

2018-04-21

Hyperperfusion syndrome associated with aneurysm surgery is rare. The occurrence of the syndrome after trapping with high-flow bypass has not been described previously. Herein, we present a case of the syndrome occurring after trapping with high-flow bypass of an unruptured giant paraclinoid internal carotid artery (ICA) aneurysm. The patient was a 68-year-old woman with progressive loss of vision in her left eye. After a diagnosis of a left giant ICA aneurysm, she underwent successful trapping with high-flow bypass. No new neurological deficits were observed after surgery. Computed tomography (CT) on the same day and magnetic resonance imaging (MRI) on the next day revealed no hemorrhage or infarction. The patient had a headache and transit motor aphasia on postoperative day (POD) 8. Arterial spin-labeling magnetic resonance perfusion image on the same day and single photon emission CT scan on POD 10 demonstrated hyperperfusion in the left cerebral cortex. The symptoms gradually improved over a week and she had no new neurological deficits when discharged from hospital. This report suggests that, although rare, hyperperfusion syndrome after trapping with high-flow bypass should be considered in giant aneurysmal patients if they present with headache and neurological deficits in a delayed period. Copyright © 2018. Published by Elsevier Inc.

Carotid sinus syndrome as the presenting symptom of cystadenolymphoma.

PubMed

Noroozi, Nelson; Modabber, Ali; Hölzle, Frank; Braunschweig, Till; Riediger, Dieter; Gerressen, Marcus; Ghassemi, Alireza

2012-11-14

Carotid sinus syndrome is a serious manifestation of head and neck malignancy. The purpose of this study was to clarify the presence of carotid sinus syndrome in a patient with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date. A 45-year-old woman with one-week-old swelling in the left mandibular angle having disturbing symptoms of vertigo, consciousness and sinus arrest. Holter monitoring revealed several episodes of sinus arrest. Ultrasonography showed a well-defined space-occupying lesion of about 31 mm in length and 17 mm in width located in the deep lobe of the left parotid gland. Computerized tomography (CT) showed a large mass extending into the carotid space and protruding into the parapharyngeal space. Parotidectomy was performed. Surgical removal of the tumor resulted in complete amelioration of symptoms and disappearance of electrocardiogram abnormalities. Here we report on a clinical case of carotid sinus syndrome associated with cystadenolymphoma. To our knowledge carotid sinus syndrome secondary to cystadenolymphoma has not been reported to date, and is made more remarkable as a possible differential diagnosis after clarification of all possible causes. Early diagnosis and immediate management can minimize complications.

Functional Imaging Signature of Patients Presenting with Polycythemia/Paraganglioma Syndromes.

PubMed

Janssen, Ingo; Chen, Clara C; Zhuang, Zhenping; Millo, Corina M; Wolf, Katherine I; Ling, Alexander; Lin, Frank I; Adams, Karen T; Herscovitch, Peter; Feelders, Richard A; Fojo, Antonio T; Taieb, David; Kebebew, Electron; Pacak, Karel

2017-08-01

Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau gene. Recently, mutations in the prolyl hydroxylase gene ( PHD ) 1 and 2 and in the hypoxia-inducible factor 2 α ( HIF2A ) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered. Because the functional imaging signature of patients with PPGL-polycythemia syndromes is still unknown, and because these tumors (in most patients) are multiple, recurrent, and metastatic, the goal of our study was to assess the optimal imaging approach using 4 different PET radiopharmaceuticals and CT/MRI in these patients. Methods: Fourteen patients (10 women, 4 men) with confirmed PPGL and polycythemia prospectively underwent 68 Ga-DOTATATE (13 patients), 18 F-FDG (13 patients), 18 F-fluorodihydroxyphenylalanine ( 18 F-FDOPA) (14 patients), 18 F-fluorodopamine ( 18 F-FDA) (11 patients), and CT/MRI (14 patients). Detection rates of PPGL lesions were compared between all imaging studies and stratified between the underlying mutations. Results: 18 F-FDOPA and 18 F-FDA PET/CT showed similar combined lesion-based detection rates of 98.7% (95% confidence interval [CI], 92.7%-99.8%) and 98.3% (95% CI, 90.9%-99.7%), respectively. The detection rates for 68 Ga-DOTATATE (35.3%; 95% CI, 25.0%-47.2%), 18 F-FDG (42.3; 95% CI, 29.9%-55.8%), and CT/MRI (60.3%; 95% CI, 48.8%-70.7%) were significantly lower ( P < 0.01), irrespective of the mutation status. Conclusion: 18 F-FDOPA and 18 F-FDA are superior to 18 F-FDG, 68 Ga-DOTATATE, and CT/MRI and should be the radiopharmaceuticals of choice in this rare group of patients. © 2017 by the Society of Nuclear Medicine and Molecular Imaging.

Helical 4D CT and Comparison with Cine 4D CT

NASA Astrophysics Data System (ADS)

Pan, Tinsu

4D CT was one of the most important developments in radiation oncology in the last decade. Its early development in single slice CT and commercialization in multi-slice CT has radically changed our practice in radiation treatment of lung cancer, and has enabled the stereotactic radiosurgery of early stage lung cancer. In this chapter, we will document the history of 4D CT development, detail the data sufficiency condition governing the 4D CT data collection; present the design of the commercial helical 4D CTs from Philips and Siemens; compare the differences between the helical 4D CT and the GE cine 4D CT in data acquisition, slice thickness, acquisition time and work flow; review the respiratory monitoring devices; and understand the causes of image artifacts in 4D CT.

Follow-up brain imaging of 37 children with congenital Zika syndrome: case series study.

PubMed

Petribu, Natacha Calheiros de Lima; Aragao, Maria de Fatima Vasco; van der Linden, Vanessa; Parizel, Paul; Jungmann, Patricia; Araújo, Luziany; Abath, Marília; Fernandes, Andrezza; Brainer-Lima, Alessandra; Holanda, Arthur; Mello, Roberto; Sarteschi, Camila; Duarte, Maria do Carmo Menezes Bezerra

2017-10-13

Objective  To compare initial brain computed tomography (CT) scans with follow-up CT scans at one year in children with congenital Zika syndrome, focusing on cerebral calcifications. Design  Case series study. Setting  Barão de Lucena Hospital, Pernambuco state, Brazil. Participants  37 children with probable or confirmed congenital Zika syndrome during the microcephaly outbreak in 2015 who underwent brain CT shortly after birth and at one year follow-up. Main outcome measure  Differences in cerebral calcification patterns between initial and follow-up scans. Results  37 children were evaluated. All presented cerebral calcifications on the initial scan, predominantly at cortical-white matter junction. At follow-up the calcifications had diminished in number, size, or density, or a combination in 34 of the children (92%, 95% confidence interval 79% to 97%), were no longer visible in one child, and remained unchanged in two children. No child showed an increase in calcifications. The calcifications at the cortical-white matter junction which were no longer visible at follow-up occurred predominately in the parietal and occipital lobes. These imaging changes were not associated with any clear clinical improvements. Conclusion  The detection of cerebral calcifications should not be considered a major criterion for late diagnosis of congenital Zika syndrome, nor should the absence of calcifications be used to exclude the diagnosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

TNFalpha -308 C-->t and -863 C-->a polymorphisms and spermiogram characteristics.

PubMed

Kurz, Christine; Bentz, Eva-Katrin; Denschlag, Dominik; Berner, Isabel; Keck, Christoph; Tempfer, Clemens B; Pietrowski, Detlef

2008-01-01

Genetic factors may play a role in male infertility. In a prospective case-control study, we assessed the allele and genotype frequencies of the TNFalpha -308 C-->T and -863 C-->A polymorphisms, detected by PCR of sperm DNA, of 577 Caucasian men recruited in an infertility clinic. Semen sampling was performed and spermiogram results were correlated to genetic data. The allele frequencies of the TNFalpha -308 C-->T and -863 C-->A polymorphisms were not significantly different between non-normozoospermic (n = 447) and normozoospermic (n = 130) men [758/894 (85%) and 134/894 (15%) vs. 213/269 (82%) and 43/260 (18%), p = 0.5, odds ratio (OR) 1.1, 95% confidence interval (CI) 0.74-1.76, and 749/894 (84%) and 145/894 (16%) vs. 212/260 (82%) and 48/260 (18%), p = 0.4, OR 1.2, 95% CI 0.78-1.76, respectively]. The genotype frequencies of the TNFalpha -308 C-->T and -863 C-->A polymorphisms were also not significantly different between non-normozoospermic and normozoospermic men. In addition, mutant alleles were not overrepresented in subgroups of men with the oligoasthenoteratozoospermia syndrome and asthenozoospermia. The TNFalpha -308 C-->T and -863 C-->A polymorphisms are not associated with spermiogram characteristics and do not represent molecular markers for genetic susceptibility to male infertility. Copyright 2008 S. Karger AG, Basel.

Development of a genotyping microarray for Usher syndrome

PubMed Central

Cremers, Frans P M; Kimberling, William J; Külm, Maigi; de Brouwer, Arjan P; van Wijk, Erwin; te Brinke, Heleen; Cremers, Cor W R J; Hoefsloot, Lies H; Banfi, Sandro; Simonelli, Francesca; Fleischhauer, Johannes C; Berger, Wolfgang; Kelley, Phil M; Haralambous, Elene; Bitner‐Glindzicz, Maria; Webster, Andrew R; Saihan, Zubin; De Baere, Elfride; Leroy, Bart P; Silvestri, Giuliana; McKay, Gareth J; Koenekoop, Robert K; Millan, Jose M; Rosenberg, Thomas; Joensuu, Tarja; Sankila, Eeva‐Marja; Weil, Dominique; Weston, Mike D; Wissinger, Bernd; Kremer, Hannie

2007-01-01

Background Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays a high degree of clinical and genetic heterogeneity. Three clinical subtypes can be distinguished, based on the age of onset and severity of the hearing impairment, and the presence or absence of vestibular abnormalities. Thus far, eight genes have been implicated in the syndrome, together comprising 347 protein‐coding exons. Methods: To improve DNA diagnostics for patients with Usher syndrome, we developed a genotyping microarray based on the arrayed primer extension (APEX) method. Allele‐specific oligonucleotides corresponding to all 298 Usher syndrome‐associated sequence variants known to date, 76 of which are novel, were arrayed. Results Approximately half of these variants were validated using original patient DNAs, which yielded an accuracy of >98%. The efficiency of the Usher genotyping microarray was tested using DNAs from 370 unrelated European and American patients with Usher syndrome. Sequence variants were identified in 64/140 (46%) patients with Usher syndrome type I, 45/189 (24%) patients with Usher syndrome type II, 6/21 (29%) patients with Usher syndrome type III and 6/20 (30%) patients with atypical Usher syndrome. The chip also identified two novel sequence variants, c.400C>T (p.R134X) in PCDH15 and c.1606T>C (p.C536S) in USH2A. Conclusion The Usher genotyping microarray is a versatile and affordable screening tool for Usher syndrome. Its efficiency will improve with the addition of novel sequence variants with minimal extra costs, making it a very useful first‐pass screening tool. PMID:16963483

Lynch syndrome associated with two MLH1 promoter variants and allelic imbalance of MLH1 expression.

PubMed

Hesson, Luke B; Packham, Deborah; Kwok, Chau-To; Nunez, Andrea C; Ng, Benedict; Schmidt, Christa; Fields, Michael; Wong, Jason W H; Sloane, Mathew A; Ward, Robyn L

2015-06-01

Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5'untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. We investigated whether these variants were associated with other pathogenic alterations using targeted high-throughput sequencing of the MLH1 locus. We also determined their relationship to gene expression and epigenetic alterations at the promoter. Sequencing revealed that the c.-28A>G and c.-7C>T variants were the only potentially pathogenic alterations within the MLH1 gene. In both individuals, the levels of transcription from the variant allele were reduced to 50% compared with the wild-type allele. Partial loss of expression occurred in the absence of constitutional epigenetic alterations within the MLH1 promoter. We propose that these variants may be pathogenic due to constitutional partial loss of MLH1 expression, and that this may be associated with intermediate penetrance of a Lynch syndrome phenotype. Our findings provide further evidence of the potential importance of noncoding variants in the MLH1 5'UTR in the pathogenesis of Lynch syndrome. © 2015 The Authors. **Human Mutation published by Wiley Periodicals, Inc.

Lynch Syndrome Associated with Two MLH1 Promoter Variants and Allelic Imbalance of MLH1 Expression

PubMed Central

Hesson, Luke B; Packham, Deborah; Kwok, Chau-To; Nunez, Andrea C; Ng, Benedict; Schmidt, Christa; Fields, Michael; Wong, Jason WH; Sloane, Mathew A; Ward, Robyn L

2015-01-01

Lynch syndrome is a hereditary cancer syndrome caused by a constitutional mutation in one of the mismatch repair genes. The implementation of predictive testing and targeted preventative surveillance is hindered by the frequent finding of sequence variants of uncertain significance in these genes. We aimed to determine the pathogenicity of previously reported variants (c.-28A>G and c.-7C>T) within the MLH1 5′untranslated region (UTR) in two individuals from unrelated suspected Lynch syndrome families. We investigated whether these variants were associated with other pathogenic alterations using targeted high-throughput sequencing of the MLH1 locus. We also determined their relationship to gene expression and epigenetic alterations at the promoter. Sequencing revealed that the c.-28A>G and c.-7C>T variants were the only potentially pathogenic alterations within the MLH1 gene. In both individuals, the levels of transcription from the variant allele were reduced to 50% compared with the wild-type allele. Partial loss of expression occurred in the absence of constitutional epigenetic alterations within the MLH1 promoter. We propose that these variants may be pathogenic due to constitutional partial loss of MLH1 expression, and that this may be associated with intermediate penetrance of a Lynch syndrome phenotype. Our findings provide further evidence of the potential importance of noncoding variants in the MLH1 5′UTR in the pathogenesis of Lynch syndrome. PMID:25762362

Unilateral giant cell lesion of the jaw in Noonan syndrome.

PubMed

Eyselbergs, M; Vanhoenacker, F; Hintjens, J; Dom, M; Devriendt, K; Van Dijck, H

2014-01-01

Noonan syndrome (NS) is an etiologically heterogeneous disorder caused by mutations in the RAS-MAPK signaling pathway. Noonan-Like/Multiple Giant Cell Lesion (NL/MGCL) syndrome is initially described as the occurrence of multiple gnathic giant cell lesions in patients with phenotypic features of NS. Nowadays, NS/MGCL syndrome is considered a variant of the NS spectrum rather than a distinct entity. We report the case of a 14-year-old female patient carrying a SOS1 mutation with a unilateral giant cell lesion of the right mandible. Cross-sectional imaging such as CT and MRI are not specific for the diagnosis of oral giant cell lesions. Nonetheless, intralesional scattered foci of low SI on T2-WI, corresponding to hemosiderin deposits due to hemorrhage, can help the radiologist in narrowing down the differential diagnosis of gnathic lesions in patients with NS.

Hybrid SPECT-CT and PET-CT imaging of differentiated thyroid carcinoma.

PubMed

Wong, K K; Zarzhevsky, N; Cahill, J M; Frey, K A; Avram, A M

2009-10-01

Hybrid imaging modalities such as radioiodine single photon emission CT with integrated CT ((131)I SPECT-CT) and 2-(fluorine-18)-fluoro-2-deoxy-D-glucose positron emission tomography with integrated CT (FDG PET-CT) allow the rapid and efficient fusion of functional and anatomic images, and provide diagnostic information that may influence management decisions in patients with differentiated thyroid carcinoma (DTC). Diagnostic localisation and therapy of these tumours are dependent upon their capacity to concentrate radioiodine ((131)I) via uptake through the sodium-iodide symporter and retention within the tumour. The prognosis for most patients with DTC is favourable, although controversy exists regarding the role of post-operative (131)I therapy in patients at low-risk for disease. Accurate identification of functional thyroid tissue (benign or malignant) using diagnostic (131)I planar scintigraphy complemented by SPECT-CT imaging enables the completion of post-operative staging and patient risk stratification prior to (131)I therapy administration. In patients with non-iodine-avid tumours (negative (131)I scan but elevated thyroglobulin indicative of persistent or recurrent disease), FDG PET-CT is used to identify tumours with enhanced glucose metabolism and to localise the source of thyroglobulin production. The CT component of this hybrid technology provides anatomic localisation of activity and allows CT-based attenuation correction of PET images. Images from 15 patients illustrate the applications of (131)I SPECT-CT and FDG PET-CT.

Cerebellar hematoma in a patient with Marfan syndrome.

PubMed

Passalacqua, Marcello; Grasso, Giovanni; Alafaci, Concetta; Collufio, Domenicantonio; Morabito, Antonio; Salpietro, Francesco M; Tomasello, Francesco

2003-08-01

Marfan syndrome is a connective tissue disorder affecting many structures, including the skeleton, lungs, eyes, heart and blood vessels. It is an autosomal dominant inherited disorder due to a mutation of a gene encoding fibrillin-1, which affects connective tissue. Few case reports have associated Marfan syndrome with vascular malformations of the brain and spinal cord. In this regard, association with intracranial aneurysm has been vaguely proposed. We report here a patient with Marfan syndrome who was admitted because of a sudden loss of consciousness. The patient underwent computed tomography (CT) examination, which disclosed a right intracerebellar hematoma. Cerebral angiogram did not demonstrate aneurysm or arteriovenous malformation (AVM), or evidence of any other vascular lesions or neoplasms in the posterior fossa. Conservative treatment was undertaken. The clinical course was uneventful and after 6 weeks the patient was discharged free of symptoms. Although patients with Marfan syndrome are at high risk of vascular abnormalities, a clear association with cerebral aneurysm has not yet been established. Our experience and the contrasting reports available in the medical literature strongly warrant further studies in order to better clarify this controversial association.

[Chronic tics and Tourette syndrome in children and adolescents: diagnostic and treatment characteristics].

PubMed

Zavadenko, N N; Doronina, O B; Nesterovsky, Yu E

2015-01-01

Chronic tics (CT) are observed in 3-4% population, Tourette syndrome (TS) in 0.1-3.0%. In most cases, tic disorders start at age 2-15 years, but frequently they are diagnosed late. Clinical presentations of tics and comorbid disorders are various and depend on child's age. Difficulties in treatment of CT are associated with their persistence and those for TS with the fluctuating course of tics and probable onset of the disease in the form of behavioral disorders. Treatment of CT and TS is individual. Methods of behavioral and psychotherapy are recommended for a certain period of time if tics do not hamper everyday life. Increase in tick frequency and severity indicate the necessity of using pharmacological treatment. The European recommendations on pharmacotherapy of tic disorders and the drugs available in Russia are considered. Results of the studies on the efficacy of antiepileptic drugs and tenoten children in CT and TS are presented.

Bone quality evaluation at dental implant site using multislice CT, micro-CT, and cone beam CT.

PubMed

Parsa, Azin; Ibrahim, Norliza; Hassan, Bassam; van der Stelt, Paul; Wismeijer, Daniel

2015-01-01

The first purpose of this study was to analyze the correlation between bone volume fraction (BV/TV) and calibrated radiographic bone density Hounsfield units (HU) in human jaws, derived from micro-CT and multislice computed tomography (MSCT), respectively. The second aim was to assess the accuracy of cone beam computed tomography (CBCT) in evaluating trabecular bone density and microstructure using MSCT and micro-CT, respectively, as reference gold standards. Twenty partially edentulous human mandibular cadavers were scanned by three types of CT modalities: MSCT (Philips, Best, the Netherlands), CBCT (3D Accuitomo 170, J Morita, Kyoto, Japan), and micro-CT (SkyScan 1173, Kontich, Belgium). Image analysis was performed using Amira (v4.1, Visage Imaging Inc., Carlsbad, CA, USA), 3Diagnosis (v5.3.1, 3diemme, Cantu, Italy), Geomagic (studio(®) 2012, Morrisville, NC, USA), and CTAn (v1.11, SkyScan). MSCT, CBCT, and micro-CT scans of each mandible were matched to select the exact region of interest (ROI). MSCT HU, micro-CT BV/TV, and CBCT gray value and bone volume fraction of each ROI were derived. Statistical analysis was performed to assess the correlations between corresponding measurement parameters. Strong correlations were observed between CBCT and MSCT density (r = 0.89) and between CBCT and micro-CT BV/TV measurements (r = 0.82). Excellent correlation was observed between MSCT HU and micro-CT BV/TV (r = 0.91). However, significant differences were found between all comparisons pairs (P < 0.001) except for mean measurement between CBCT BV/TV and micro-CT BV/TV (P = 0.147). An excellent correlation exists between bone volume fraction and bone density as assessed on micro-CT and MSCT, respectively. This suggests that bone density measurements could be used to estimate bone microstructural parameters. A strong correlation also was found between CBCT gray values and BV/TV and their gold standards, suggesting the potential of this modality in bone quality assessment

Multi-phase post-mortem CT-angiography: a pathologic correlation study on cardiovascular sudden death

PubMed Central

Turillazzi, Emanuela; Frati, Paola; Pascale, Natascha; Pomara, Cristoforo; Grilli, Giampaolo; Viola, Rocco Valerio; Fineschi, Vittorio

2016-01-01

Multi-phase post-mortem CT-angiography (MPMCTA) has the great potential to increase the quality of the post-mortem investigation, especially in the area of sudden death; however, its role as routine complement to the pathology toolbox is still questioned as it needs to be further standardized. The aim of this study is to investigate the contribution of MPMCTA in cases of sudden unexplained death in adults and in particular in sudden cardiovascular death. Sixty-eight sudden unexpected deaths of adults were investigated at our institution between 2012 and 2013. Ten cases underwent MPMCTA and autopsy and were included in the study. Before the angiographic step by complete filling of the vascular system, prior to any manipulation of the body, a non-contrast CT-scan was carried out. Image reconstructions were performed on a CT workstation (Vitrea) and two radiologists experienced with post mortem imaging interpreted the MPMCTA findings. In all 10 cases, we could state a good correlation between combination of post-mortem CT and MPMCTA and autopsy procedures, confirming a high diagnostic sensitivity. With this case series we want to illustrate the advantages offered by performing MPMCTA when facing a sudden death, regardless of specific suspicion for acute coronary syndrome or other vascular or ischemic disease. PMID:27928228

Challenges and outcomes of cholesteatoma management in children with Down syndrome.

PubMed

Ghadersohi, Saied; Bhushan, Bharat; Billings, Kathleen R

2018-03-01

The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging. To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. Retrospective case series of 14 patients (17 total ears) with Down syndrome diagnosed with cholesteatoma over a 9-year period. A total of 14 patients with cholesteatoma (3 with bilateral disease) were analyzed. Thirteen ears (76.5%) had ≥2 tympanostomy tubes insertions prior to cholesteatoma diagnosis, and otorrhea and hearing loss were the most common presenting symptoms. Common pre-operative CT scan findings included mastoid sclerosis and ossicular erosion. The average age at first surgery was 9.8 years, and the average follow-up was 4.3 years. For acquired cholesteatoma, most ears were managed with canal wall up (CWU) approaches, but ultimately 6/15 (40.0%) required canal wall down (CWD) approaches. Postoperatively, 3 (20.0%) ears developed new tympanic membrane retraction pockets, but no recurrent cholesteatoma. Four (26.7%) ears developed recurrent disease, and 3 (20.0%) had residual disease at secondary procedures. Ossiculoplasty was performed in 4 ears. Twelve (70.6%) ears were rehabilitated with hearing aids or FM systems. The diagnosis of cholesteatoma in Down syndrome was associated with otorrhea, hearing loss, and CT scan findings of ossicular erosion and mastoid sclerosis. Most cases were managed with CWU surgical approaches. Hearing aid use was common post-operatively. Copyright © 2018 Elsevier B.V. All rights reserved.

Novel LRPPRC Mutation in a Boy With Mild Leigh Syndrome, French-Canadian Type Outside of Québec.

PubMed

Han, Velda Xinying; Tan, Teresa S; Wang, Furene S; Tay, Stacey Kiat-Hong

2017-01-01

Leigh syndrome, French-Canadian type is unique to patients from a genetic isolate in the Saguenay-Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation. The authors report a boy with a novel LRPPRC compound heterozygous missense mutations c.3130C>T, c.3430C>T, and c.4078G>A found on whole-exome sequencing which correlated with isolated cytochrome c-oxidase deficiency found in skeletal muscle. LRPPRC mutation is a rare cause of cytochrome c-oxidase-deficient form of Leigh syndrome outside of Québec. Our patient broadens the spectrum of phenotypes of Leigh syndrome, French-Canadian type. LRPPRC mutation should be considered in children with early childhood neurodegenerative disorder, even in the absence of metabolic crisis. Early evaluation with whole-exome sequencing is useful for early diagnosis and for genetic counseling.

Detection of melorheostosis in a young lady with upper limb pain on Three Phase Bone Scintigram/SPECT-CT

PubMed Central

Hassan, Aamna; Khalid, Madeeha; Khawar, Saquib

2016-01-01

Summary Melorheostosis is a benign, noninheritable bone dysplasia characterized by its classic radiographic features of dense, flowing hyperostosis. It frequently affects one limb, usually the lower extremity and rarely the axial skeleton. A 26-year-old lady with obesity, polycystic ovarian syndrome and scalp dandruff presented with a long standing history of upper extremity pain and inability to adduct the arm completely. A Tc-99m MDP whole body and SPECT/CT scan performed for suspected fibrous dysplasia showed increased radiotracer uptake in densely sclerotic humeral and radial melorheostosis. This case highlighted the role of SPECT/CT imaging in this rare condition. PMID:27252746

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PubMed

Edwards, Jonathan J; Martinelli, Simone; Pannone, Luca; Lo, Ivan Fai-Man; Shi, Lisong; Edelmann, Lisa; Tartaglia, Marco; Luk, Ho-Ming; Gelb, Bruce D

2014-09-01

The RASopathies are a relatively common group of phenotypically similar and genetically related autosomal dominant genetic syndromes caused by missense mutations affecting genes participating in the RAS/mitogen-activated protein kinase (MAPK) pathway that include Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML, formerly LEOPARD syndrome). NS and NSML can be difficult to differentiate during infancy, but the presence of multiple lentigines, café au lait spots, and specific cardiac defects facilitate the diagnosis. Furthermore, individual PTPN11 missense mutations are highly specific to each syndrome and engender opposite biochemical alterations on the function of SHP-2, the protein product of that gene. Here, we report on a 5-year-old male with two de novo PTPN11 mutations in cis, c.1471C>T (p.Pro491Ser), and c.1492C>T (p.Arg498Trp), which are associated with NS and NSML, respectively. This boy's phenotype is intermediate between NS and NSML with facial dysmorphism, short stature, mild global developmental delay, pulmonic stenosis, and deafness but absence of café au lait spots or lentigines. The double-mutant SHP-2 was found to be catalytically impaired. This raises the question of whether clinical differences between NS and NSML can be ascribed solely to the relative SHP-2 catalytic activity. © 2014 Wiley Periodicals, Inc.

Non-rigid registration of serial dedicated breast CT, longitudinal dedicated breast CT and PET/CT images using the diffeomorphic demons method.

PubMed

Santos, Jonathan; Chaudhari, Abhijit J; Joshi, Anand A; Ferrero, Andrea; Yang, Kai; Boone, John M; Badawi, Ramsey D

2014-09-01

Dedicated breast CT and PET/CT scanners provide detailed 3D anatomical and functional imaging data sets and are currently being investigated for applications in breast cancer management such as diagnosis, monitoring response to therapy and radiation therapy planning. Our objective was to evaluate the performance of the diffeomorphic demons (DD) non-rigid image registration method to spatially align 3D serial (pre- and post-contrast) dedicated breast computed tomography (CT), and longitudinally-acquired dedicated 3D breast CT and positron emission tomography (PET)/CT images. The algorithmic parameters of the DD method were optimized for the alignment of dedicated breast CT images using training data and fixed. The performance of the method for image alignment was quantitatively evaluated using three separate data sets; (1) serial breast CT pre- and post-contrast images of 20 women, (2) breast CT images of 20 women acquired before and after repositioning the subject on the scanner, and (3) dedicated breast PET/CT images of 7 women undergoing neo-adjuvant chemotherapy acquired pre-treatment and after 1 cycle of therapy. The DD registration method outperformed no registration (p < 0.001) and conventional affine registration (p ≤ 0.002) for serial and longitudinal breast CT and PET/CT image alignment. In spite of the large size of the imaging data, the computational cost of the DD method was found to be reasonable (3-5 min). Co-registration of dedicated breast CT and PET/CT images can be performed rapidly and reliably using the DD method. This is the first study evaluating the DD registration method for the alignment of dedicated breast CT and PET/CT images. Copyright © 2014 Associazione Italiana di Fisica Medica. Published by Elsevier Ltd. All rights reserved.

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

PubMed

Cherkaoui Jaouad, Imane; El Alloussi, Mustapha; Chafai El Alaoui, Siham; Laarabi, Fatima Zahra; Lyahyai, Jaber; Sefiani, Abdelaziz

2015-01-30

Amelogenesis imperfecta represents a group of developmental conditions, clinically and genetically heterogeneous, that affect the structure and clinical appearance of enamel. Amelogenesis imperfecta occurred as an isolated trait or as part of a genetic syndrome. Recently, disease-causing mutations in the FAM20A gene were identified, in families with an autosomal recessive syndrome associating amelogenesis imperfecta and gingival fibromatosis. We report, the first description of a Moroccan patient with amelogenesis imperfecta and gingival fibromatosis, in whom we performed Sanger sequencing of the entire coding sequence of FAM20A and identified a homozygous mutation in the FAM20A gene (c.34_35delCT), already reported in a family with this syndrome. Our finding confirms that the mutations of FAM20A gene are causative for amelogenesis imperfecta and gingival fibromatosis and underlines the recurrent character of the c.34_35delCT in two different ethnic groups.

Adhesive capsulitis: An age related symptom of metabolic syndrome and chronic low-grade inflammation?

PubMed

Pietrzak, Max

2016-03-01

Adhesive capsulitis (AC) is very poorly understood, particularly it's underlying etiology. Obesity and metabolic syndrome, which are strongly associated with chronic low grade inflammation, are becoming increasingly understood to underlie a raft of morbid states including upper limb pain syndromes, diabetes (DM), cardiovascular disease (CVD), cancer and central nervous system dysfunction and degeneration. Notwithstanding age, two of the strongest established risk factors for AC are DM and CVD. The hypothesis argues that similar to DM and CVD, the inflammation and capsular fibrosis seen in AC is precipitated by metabolic syndrome and chronic low grade inflammation. These pathophysiological mechanisms are highly likely to be perpetuated by upregulation of pro-inflammatory cytokine production, sympathetic dominance of autonomic balance, and neuro-immune activation. The hypothesis predicts and describes how these processes may etiologically underpin and induce each sub-classification of AC. An improved understanding of the etiology of AC may lead to more accurate diagnosis, improved management, treatment outcomes, and reduce or prevent pain, disability and suffering associated with the disease. The paper follows on with a discussion of similarities between the pathophysiology of AC to general systemic inflammatory control mechanisms whereby connective tissue (CT) fibrosis is induced as a storage depot for leukocytes and chronic inflammatory cells. The potential role of hyaluronic acid (HA), the primary component of the extracellular matrix (ECM) and CT, in the pathophysiology of AC is also discussed with potential treatment implications. Lastly, a biochemical link between physical and mental health through the ECM is described and the concept of a periventricular-limbic central driver of CT dysfunction is introduced. Copyright © 2016 Elsevier Ltd. All rights reserved.

Interleukin 10 (- 1082 G/A) and (- 819 C/T) gene polymorphisms in Egyptian women with polycystic ovary syndrome (PCOS).

PubMed

Talaat, Roba M; Mohamed, Yasmin A; Mohamad, Ehab H; Elsharkawy, Marwa; Guirgis, Adel A

2016-09-01

Cytokines play critical roles in the pathogenesis of Polycystic Ovarian Syndrome (PCOS). This work was designed to study the implication of IL10 gene polymorphisms (- 1082 G/A and - 819 C/T) on the susceptibility of Egyptian women to have PCOS. Rotterdam consensus criteria were used to diagnose PCOS patients. Genotyping was performed by single-stranded polymorphism-polymerase chain reaction (SSP-PCR) in 61 PCOS patients and 80 healthy controls, and IL-10 serum levels were measured using Enzyme linked immunosorbent assay (ELISA). The frequency of IL10 - 1082 G/G (46%) genotype was significantly increased (p < 0.001) while the frequency of - 1082 A/A (16%) genotype was significantly decreased (p < 0.05) in PCOS patients compared to controls (14% and 35% for G/G and A/A genotypes; respectively). G allele (65%) is significantly increased (p < 0.01( in PCOS patients while A allele (61%) is significantly increased (p < 0.001( in control subjects. The distribution of IL10 -819 T/T genotype was significantly increased (p < 0.05) in PCOS group. G/G genotype (odd ratio (OR = 5.322) with confidence interval (CI = 2.364-11.982) and the G allele (OR = 2.828 with CI = 1.73-4.61) of - 1082 G/A and T/T genotype of - 819 C/T (OR = 4.18 with CI = 1.26-13.86) could be considered as risk factors for PCOS. IL-10 levels were significantly lower among PCOS patients (313.42 ± 30.10) compared to normal controls (4914.36 ± 303.72). Depending on our preliminary work, IL10 - 1082 G/G might be considered as a host genetic factor for PCOS susceptibility in Egyptian women. Studies concerning other cytokine gene polymorphisms are required to get a better understanding of the pathogenesis of PCOS disease.

Abdominal CT scan

MedlinePlus

Computed tomography scan - abdomen; CT scan - abdomen; CT abdomen and pelvis ... An abdominal CT scan makes detailed pictures of the structures inside your belly very quickly. This test may be used to look ...

[Features of Acquired Immunodeficiency Syndrome-related Lymphoma on (18)F-fluorodeoxyglucose Positron Emission Tomography/Computed Tomography].

PubMed

Niu, Na; Zhu, Zhao-hui; Ma, Yan-ru; Xing, Hai-qun; Li, Fang

2015-10-01

To analyze the imaging features of (18)F-fluorodeoxyglucose (¹⁸F-FDG) positron emission tomography(PET)/computed tomography (CT) in acquired immune deficiency syndrome-related lymphoma (ARL) patients correlated with their clinical signs, symptoms, and treatments. Five ARL patients underwent ¹⁸F-FDG PET/CT at Peking Union Medical College Hospital from October 2008 to January 2013. Two patients received two additional follow-up studies 6 months later. Among these 5 patients, ¹⁸FDG-PET/CT helped in diagnosis of two patient and changed therapeutic strategy in other two patients. In two patients underwent ¹⁸F-FDG PET/CT brain scans, low-metabolism lesion was newly found in cerebral cortex. Of 4 patients receiving highly active antiretroviral therapy, PET/CT also demonstrated diffusely elevated ¹⁸F-FDG uptake in subcutaneous adipose tissue in two patients. ¹⁸F-FDG PET/CT is a highly useful tool in the diagnosis and treatment of ARL patients, in particular in the identification of associated encephalopathy and lipodystrophy.

CT Angiography (CTA)

MedlinePlus

... News Physician Resources Professions Site Index A-Z CT Angiography (CTA) Computed tomography angiography (CTA) uses an ... are the limitations of CT Angiography? What is CT Angiography? Angiography is a minimally invasive medical test ...

CT and PET-CT of a Dog with Multiple Pulmonary Adenocarcinoma

PubMed Central

KIM, Jisun; KWON, Seong Young; CENA, Rohani; PARK, Seungjo; OH, Juyeon; OUI, Heejin; CHO, Kyoung-Oh; MIN, Jung-Joon; CHOI, Jihye

2013-01-01

ABSTRACT A 10-year-old, intact female Yorkshire terrier had multiple pulmonary nodules on thoracic radiography and ultrasonography with no lesions elsewhere. Computed tomography (CT) and positron emission tomography and computed tomography (PET-CT) using 18F-fluorodeoxyglucose (FDG) were performed to identify metastasis and undetected primary tumors. On CT examination, pulmonary nodules had a hypoattenuating center with thin peripheral enhancement, suggesting ischemic or necrotizing lesion. In PET-CT at 47 min after intravenous injection of 11.1 MBq/kg of FDG, the maximum standardized uptake value of each pulmonary nodule was about from 3.8 to 6.4. There were no abnormal lesions except for four pulmonary nodules on the CT and PET-CT. Primary lung tumor was tentatively diagnosed, and palliative therapy using 2 mg/kg tramadol and 2.2 mg/kg carprofen twice per day was applied. After the dog’s euthanasia due to deteriorated clinical signs and poor prognosis, undifferentiated pulmonary adenocarcinoma was diagnosed through histopathologic and immunochemistry examination. To the best of the authors’ knowledge, this is the first study of CT and PET-CT features of canine pulmonary adenocarcinoma. In this case, multiple pulmonary adenocarcinoma could be determined on the basis of FDG PET-CT through screening the obvious distant metastasis and/or lymph node invasions and excluding unknown primary tumors. PMID:24389742

Benchmark dataset for undirected and Mixed Capacitated Arc Routing Problems under Time restrictions with Intermediate Facilities.

PubMed

Willemse, Elias J; Joubert, Johan W

2016-09-01

In this article we present benchmark datasets for the Mixed Capacitated Arc Routing Problem under Time restrictions with Intermediate Facilities (MCARPTIF). The problem is a generalisation of the Capacitated Arc Routing Problem (CARP), and closely represents waste collection routing. Four different test sets are presented, each consisting of multiple instance files, and which can be used to benchmark different solution approaches for the MCARPTIF. An in-depth description of the datasets can be found in "Constructive heuristics for the Mixed Capacity Arc Routing Problem under Time Restrictions with Intermediate Facilities" (Willemseand Joubert, 2016) [2] and "Splitting procedures for the Mixed Capacitated Arc Routing Problem under Time restrictions with Intermediate Facilities" (Willemseand Joubert, in press) [4]. The datasets are publicly available from "Library of benchmark test sets for variants of the Capacitated Arc Routing Problem under Time restrictions with Intermediate Facilities" (Willemse and Joubert, 2016) [3].

Pelvic CT scan

MedlinePlus

CAT scan - pelvis; Computed axial tomography scan - pelvis; Computed tomography scan - pelvis; CT scan - pelvis ... Risks of CT scans include: Being exposed to radiation Allergic reaction to contrast dye CT scans do expose you to more radiation ...

Shoulder CT scan

MedlinePlus

CAT scan - shoulder; Computed axial tomography scan - shoulder; Computed tomography scan - shoulder; CT scan - shoulder ... Risks of CT scans include: Being exposed to radiation Allergic reaction to contrast dye Birth defect if done during pregnancy CT scans ...

Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

PubMed Central

Saumell, Sílvia; Solé, Francesc; Arenillas, Leonor; Montoro, Julia; Valcárcel, David; Pedro, Carme; Sanzo, Carmen; Luño, Elisa; Giménez, Teresa; Arnan, Montserrat; Pomares, Helena; De Paz, Raquel; Arrizabalaga, Beatriz; Jerez, Andrés; Martínez, Ana B.; Sánchez-Castro, Judith; Rodríguez-Gambarte, Juan D.; Raya, José M.; Ríos, Eduardo; Rodríguez-Rivera, María; Espinet, Blanca; Florensa, Lourdes

2015-01-01

Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS. PMID:26066831

Trisomy 8, a Cytogenetic Abnormality in Myelodysplastic Syndromes, Is Constitutional or Not?

PubMed

Saumell, Sílvia; Solé, Francesc; Arenillas, Leonor; Montoro, Julia; Valcárcel, David; Pedro, Carme; Sanzo, Carmen; Luño, Elisa; Giménez, Teresa; Arnan, Montserrat; Pomares, Helena; De Paz, Raquel; Arrizabalaga, Beatriz; Jerez, Andrés; Martínez, Ana B; Sánchez-Castro, Judith; Rodríguez-Gambarte, Juan D; Raya, José M; Ríos, Eduardo; Rodríguez-Rivera, María; Espinet, Blanca; Florensa, Lourdes

2015-01-01

Isolated trisomy 8 is not considered presumptive evidence of myelodysplastic syndrome (MDS) in cases without minimal morphological criteria. One reason given is that trisomy 8 (+8) can be found as a constitutional mosaicism (cT8M). We tried to clarify the incidence of cT8M in myeloid neoplasms, specifically in MDS, and the diagnostic value of isolated +8 in MDS. Twenty-two MDS and 10 other myeloid neoplasms carrying +8 were studied. Trisomy 8 was determined in peripheral blood by conventional cytogenetics (CC) and on granulocytes, CD3+ lymphocytes and oral mucosa cells by fluorescence in situ hybridization (FISH). In peripheral blood CC, +8 was seen in 4/32 patients. By FISH, only one patient with chronic myelomonocytic leukemia showed +8 in all cell samples and was interpreted as a cT8M. In our series +8 was acquired in all MDS. Probably, once discarded cT8M by FISH from CD3+ lymphocytes and non-hematological cells, +8 should be considered with enough evidence to MDS.

Computed Tomography (CT) - Spine

MedlinePlus

... Resources Professions Site Index A-Z Computed Tomography (CT) - Spine Computed tomography (CT) of the spine is ... of CT Scanning of the Spine? What is CT Scanning of the Spine? Computed tomography, more commonly ...

Body CT (CAT Scan)

MedlinePlus

... Resources Professions Site Index A-Z Computed Tomography (CT) - Body Computed tomography (CT) of the body uses ... of CT Scanning of the Body? What is CT Scanning of the Body? Computed tomography, more commonly ...

Radionuclide bone scan SPECT-CT: lowering the dose of CT significantly reduces radiation dose without impacting CT image quality

PubMed Central

Gupta, Sandeep Kumar; Trethewey, Scott; Brooker, Bree; Rutherford, Natalie; Diffey, Jenny; Viswanathan, Suresh; Attia, John

2017-01-01

The CT component of SPECT-CT is required for attenuation correction and anatomical localization of the uptake on SPECT but there is no guideline about the optimal CT acquisition parameters. In our department, a standard CT acquisition protocol was changed in 2013 to give lower radiation dose to the patient. In this study, we retrospectively compared the effects on patient dose as well as the CT image quality with current versus older CT protocols. Ninety nine consecutive patients [n=51 Standard dose ‘old’ protocol (SDP); n=48 lower dose ‘new’ protocol (LDP)] with lumbar spine SPECT-CT for bone scan were examined. The main differences between the two protocols were that SDP used 130 kVp tube voltage and reference current-time product of 70 mAs whereas the LDP used 110 kVp and 40 mAs respectively. Various quantitative parameters from the CT images were obtained and the images were also rated blindly by two experienced nuclear medicine physicians for bony definition and noise. The mean calculated dose length product of the LDP group (121.5±39.6 mGy.cm) was significantly lower compared to the SDP group patients (266.9±96.9 mGy.cm; P<0.0001). This translated into a significant reduction in the mean effective dose to 1.8 mSv from 4.0 mSv. The physicians reported better CT image quality for the bony structures in LDP group although for soft tissue structures, the SDP group had better image quality. The optimized new CT acquisition protocol significantly reduced the radiation dose to the patient and in-fact improved CT image quality for the assessment of bony structures. PMID:28533938

Sinus CT scan

MedlinePlus

CAT scan - sinus; Computed axial tomography scan - sinus; Computed tomography scan - sinus; CT scan - sinus ... Risks for a CT scan includes: Being exposed to radiation Allergic reaction to contrast dye CT scans expose you to more radiation than regular ...

Worsening respiratory function in mechanically ventilated intensive care patients: feasibility and value of xenon-enhanced dual energy CT.

PubMed

Hoegl, Sandra; Meinel, Felix G; Thieme, Sven F; Johnson, Thorsten R C; Eickelberg, Oliver; Zwissler, Bernhard; Nikolaou, Konstantin

2013-03-01

To evaluate the feasibility and incremental diagnostic value of xenon-enhanced dual-energy CT in mechanically ventilated intensive care patients with worsening respiratory function. The study was performed in 13 mechanically ventilated patients with severe pulmonary conditions (acute respiratory distress syndrome (ARDS), n=5; status post lung transplantation, n=5; other, n=3) and declining respiratory function. CT scans were performed using a dual-source CT scanner at an expiratory xenon concentration of 30%. Both ventilation images (Xe-DECT) and standard CT images were reconstructed from a single CT scan. Findings were recorded for Xe-DECT and standard CT images separately. Ventilation defects on xenon images were matched to morphological findings on standard CT images and incremental diagnostic information of xenon ventilation images was recorded if present. Mean xenon consumption was 2.95 l per patient. No adverse events occurred under xenon inhalation. In the visual CT analysis, the Xe-DECT ventilation defects matched with pathologic changes in lung parenchyma seen in the standard CT images in all patients. Xe-DECT provided additional diagnostic findings in 4/13 patients. These included preserved ventilation despite early pneumonia (n=1), more confident discrimination between a large bulla and pneumothorax (n=1), detection of an airway-to-pneumothorax fistula (n=1) and exclusion of a suspected airway-to-mediastinum fistula (n=1). In all 4 patients, the additional findings had a substantial impact on patients' management. Xenon-enhanced DECT is safely feasible and can add relevant diagnostic information in mechanically ventilated intensive care patients with worsening respiratory function. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Anaesthetic Management in a Child with Goldenhar Syndrome.

PubMed

Khan, Waqas Ahmed; Salim, Bushra; Khan, Ausaf Ahmed; Chughtai, Shakaib

2017-03-01

Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had various features of Goldenhar syndrome, e.g. cleft palate, absent right eye and ear, right mandibular hypoplasia, micrognathia, and preauricular tags. His developmental milestones were delayed. Airway evaluation showed Mallampati class II with limited movements of head and neck, which suggested possibility of difficult laryngoscopy and intubation. He had no vertebral anomalies or cardiac disease. A difficult airway continues to be a major cause of anaesthesia-related morbidity and mortality; and maintaining spontaneous breathing remains a vital technique in its management. Lack of anaesthesia-related complications with supraglottic devices encouraged us to present the advantage of utilising a laryngeal mask airway (LMA) under anaesthesia for successful management of predicted difficult airway.

CT Enterography

MedlinePlus

... equipped to deal with them. Advancements in CT technology now allow CT enterography to be performed with even lower radiation doses. Because children are more sensitive to radiation, they should have ...

The SAPHO syndrome: a clinical and imaging study.

PubMed

Sallés, Meritxell; Olivé, Alejandro; Perez-Andres, Ricard; Holgado, Susana; Mateo, Lourdes; Riera, Elena; Tena, Xavier

2011-02-01

The purpose of this study is to describe the clinical and radiological manifestations of patients with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Retrospective study (1984-2007) was performed in a single center. All patients with the SAPHO syndrome were included. Fifty-two patients were included: 26 male, mean age at diagnosis is 42±12 years. Ostearticular involvement was present before cutaneous involvement in 59.6% of patients and concomitantly in 23.5%. Anterior chest pain was the commonest clinical manifestation, it was present in 38 patients (73%), followed by peripheral arthritis in 17 patients (32%), and sacroliliac pain in 14 patients (26.9%). Cutaneous involvement was present in 33 patients (63.5%). HLA B27 antigen was present in eight patients (17.7%). Bone scintigraphy showed an increased uptake in 42 patients (93.3%). The location of the uptake was mainly in sternoclavicular and manubriosternal joints. CT scan was performed in all "hot joints" showing sclerosis, erosions, hyperostosis, and soft tissue involvement. Refractory patients were treated mainly with pamidronate. Although SAPHO syndrome is an entity that share features that fit into a variety of established disease categories, the present study has a homogenous clinical and radiological pattern that gives support to believe that the SAPHO syndrome is an isolated clinical entity.

Cost-effectiveness and accuracy of the tests used in the differential diagnosis of Cushing's syndrome.

PubMed

Puig, J; Wägner, A; Caballero, A; Rodríguez-Espinosa, J; Webb, S M

1999-01-01

Establish the minimal biochemical and radiological examinations necessary and their cost-effectiveness to accurately diagnose the etiology of Cushing's syndrome (CS). In 71 patients with CS followed between 1982 and 1997 biochemical studies (basal ACTH, 8 mg dexamethasone suppression test-HDST-, metyrapone stimulation test-MST-, or inferior petrosal sinus catheterization-IPSC-) and radiological investigations (abdominal CT scan, pituitary CT scan or MRI) were performed. Once pathology confirmed the diagnosis (48 pituitary Cushing's disease-CD, 17 adrenal neoplasms, 2 bilateral macronodular hyperplasia-BMH-, and 4 ectopic ACTH syndrome-ES-), the sensitivity, specificity, positive and negative predictive value of the different studies was calculated to establish the most accurate and cost-effective diagnostic protocol. In ACTH-independent CS (ACTH < or = 9 pg/ml; normal 9 to 54) a unilateral tumor was identified on abdominal CT scanning in 17, and BMH in 1; the other BMH had detectable ACTH (43.2 pg/ml). In ACTH-dependent CS, ACTH was > 9 pg/ml and IPSC (performed in 22) correctly identified 20 patients with CD and differentiated them from 2 with an ES (100% specificity and sensitivity). Pituitary MRI or CT did not disclose an adenoma in 41.7% of patients with CD, and was reported to exhibit a microadenoma in 2 of the 4 patients with ES. HDST and MST were of no additional use in the differentiation between CD and ES. Once CS is diagnosed low ACTH and an abdominal CT scan correctly identified all patients of adrenal origin. In ACTH-dependent CS IPSC was the best predictive test to differentiate CD from ES. BMH may behave as ACTH-dependent or independent. The other biochemical and radiological studies performed are not cost-effective and may even be misleading, and should not be routinely performed.

Familial HCG syndrome.

PubMed

Cole, Laurence A

2012-01-01

An explanation is needed for why some men and women show positive in hCG screening tests when they are not pregnant, do not have cancer and are otherwise asymptomatic. In this study, a total of 10 families comprising 30 persons with a history of positive hCG tests were investigated. Total hCG was measured in serum and urine samples using the Siemens Immulite hCG test. Total hCG, C-terminal peptide determinant, and hCGβ were measured in 96 well plate assays. Twenty-four of 30 family members produced only hCGβ, and hCG or hCGβ missing the β-subunit C-terminal peptide, two rarely detected hCG degradation products as the only source of hCG immunoreactivity. In every one of the 10 families, hCG related molecules were detected first in one member and then later detected in other family members. In 8 of 10 families, all members produced comparable hCG concentration (Cases 1-8). All of the 10 original family members investigated were otherwise asymptomatic, and tested negative in ordered head and pelvis MRI scans and CT chest cancer tests. None had been administered hCG for dietary, anabolic or fertility reasons. Therefore Familial hCG Syndrome, a genetic defect, was indicated in each of the 10 families. In these cases of Familial hCG Syndrome only biologically inactive variants of hCG were detected. It is inferred that in Familial hCG Syndrome, hCG gene expression does not interfere with fertility. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

[Clinical features of a Chinese pedigree with Waardenburg syndrome type 2].

PubMed

Yang, Shu-zhi; Yuan, Hui-jun; Bai, Lin-na; Cao, Ju-yang; Xu, Ye; Shen, Wei-dong; Ji, Fei; Yang, Wei-yan

2005-10-12

To investigate detailed clinical features of a Chinese pedigree with Waardenburg syndrome type 2. Members of this pedigree were interviewed to identify personal or family medical histories of hearing loss, the use of aminoglycosides, and other clinical abnormalities by filling questionnaire. The audiological and other clinical evaluations of the proband and other members of this family were conducted, including pure-tone audiometry, immittance and auditory brain-stem response and ophthalmological, dermatologic, hair, temporal bone CT examinations. This family is categorized as Waardenburg syndrome type 2 according to its clinical features. It's an autosomal dominant disorder with incomplete penetrance. The clinical features varied greatly among family members and characterized by sensorineural hearing loss, heterochromia irides, freckle on the face and premature gray hair. Hearing loss can be unilateral or bilateral, congenital or late onset in this family. This Chinese family has some unique clinical features comparing with the international diagnostic criteria for Waardenburg syndrome. This study may provide some evidences to amend the diagnostic criteria for Waardenburg syndrome in Chinese population.

TU-E-217BCD-04: Spectral Breast CT: Effect of Adaptive Filtration on CT Numbers, CT Noise, and CNR.

PubMed

Silkwood, J; Matthews, K; Shikhaliev, P

2012-06-01

Photon counting spectral breast CT is feasible in part due to using an adaptive filter. An adaptive filter provides flat x-ray intensity profile and constant x-ray energy spectrum across detector surface, decreases required detector count rate, and eliminates beam hardening artifacts. However, the altered x-ray exposure profiles at the breast and detector surface may influence the distribution of CT noise, CT numbers, and contrast to noise ratio (CNR) across the CT images. The purpose of this work was to investigate these effects. Images of a CT phantom with and without adaptive filter were simulated at 60kVp, 90kVp, and 120kVp tube voltages and 660 mR total skin exposure. The CT phantom with water content had 14cm diameter, contrast elements representing adipose tissue and 2.5mg/cc iodine contrast located at 1cm, 3.5cm, and 6cm from center of the phantom. The CT numbers, CT noise, and CNR were measured at multiple locations for several filter/exposure combinations: (1)without adaptive filter for 660mR skin exposure; (2)with adaptive filter for 660mR skin exposure along central axis (mean skin exposure across the breast was <660mR); and (3)with adaptive filter for scaled exposure (mean skin exposure was 660mR). Beam hardening (cupping) artifacts had 47HU magnitude without adaptive filter but were eliminated with adaptive filter. CNR of contrast elements was comparable for (1) and (2) over central parts but was higher by 20-30% for (1) near the edge of the phantom. CNR was higher by 20-30% in (3) as compared to (2) over central parts and comparable near the edges. The adaptive filter provided: uniform distribution of CT noise, CNR, and CT numbers across CT images; comparable or better CNR with no dose penalty to the breast; and eliminated beam hardening artifacts. © 2012 American Association of Physicists in Medicine.

Preoperative 4D CT Localization of Nonlocalizing Parathyroid Adenomas by Ultrasound and SPECT-CT.

PubMed

Hinson, Andrew M; Lee, David R; Hobbs, Bradley A; Fitzgerald, Ryan T; Bodenner, Donald L; Stack, Brendan C

2015-11-01

To evaluate 4-dimensional (4D) computed tomography (CT) for the localization of parathyroid adenomas previously considered nonlocalizing on ultrasound and single-photon emission CT with CT scanning (SPECT-CT). To measure radiation exposure associated with 4D-CT and compared it with SPECT-CT. Case series with chart review. University tertiary hospital. Nineteen adults with primary hyperparathyroidism who underwent preoperative 4D CT from November 2013 through July 2014 after nonlocalizing preoperative ultrasound and technetium-99m SPECT-CT scans. Sensitivity, specificity, predictive values, and accuracy of 4D CT were evaluated. Nineteen patients (16 women and 3 men) were included with a mean age of 66 years (range, 39-80 years). Mean preoperative parathyroid hormone level was 108.5 pg/mL (range, 59.3-220.9 pg/mL), and mean weight of the excised gland was 350 mg (range, 83-797 mg). 4D CT sensitivity and specificity for localization to the patient's correct side of the neck were 84.2% and 81.8%, respectively; accuracy was 82.9%. The sensitivity for localizing adenomas to the correct quadrant was 76.5% and 91.5%, respectively; accuracy was 88.2%. 4D CT radiation exposure was significantly less than the radiation associated with SPECT-CT (13.8 vs 18.4 mSv, P = 0.04). 4D CT localizes parathyroid adenomas with relatively high sensitivity and specificity and allows for the localization of some adenomas not observed on other sestamibi-based scans. 4D CT was also associated with less radiation exposure when compared with SPECT-CT based on our study protocol. 4D CT may be considered as first- or second-line imaging for localizing parathyroid adenomas in the setting of primary hyperparathyroidism. © American Academy of Otolaryngology—Head and Neck Surgery Foundation 2015.

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

PubMed

Elmaleh-Bergès, M; Baumann, C; Noël-Pétroff, N; Sekkal, A; Couloigner, V; Devriendt, K; Wilson, M; Marlin, S; Sebag, G; Pingault, V

2013-01-01

Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients. Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. Imaging was performed between February 2000 and March 2010 for cochlear implant work-up, diagnosis of hearing loss, and/or evaluation of neurologic impairment. Eleven patients had both CT and MR imaging examinations, 3 had MR imaging only, and 1 had CT only. Temporal bone abnormalities were bilateral. The most frequent pattern associated agenesis or hypoplasia of ≥1 semicircular canal, an enlarged vestibule, and a cochlea with a reduced size and occasionally an abnormal shape, but with normal partition in the 13/15 cases that could be analyzed. Three patients lacked a cochlear nerve, bilaterally in 2 patients. In addition, associated abnormalities were found when adequate MR imaging sequences were available: agenesis of the olfactory bulbs (7/8), hypoplastic or absent lacrimal glands (11/14), hypoplastic parotid glands (12/14), and white matter signal anomalies (7/13). In the appropriate clinical context, bilateral agenesis or hypoplasia of the semicircular canals or both, associated with an enlarged vestibule and a cochlear deformity, strongly suggests a diagnosis of Waardenburg syndrome linked to a SOX10 mutation.

CT scan

MedlinePlus

... this page: //medlineplus.gov/ency/article/003330.htm CT scan To use the sharing features on this page, please enable JavaScript. A computed tomography (CT) scan is an imaging method that uses x- ...

Eagle's syndrome-A non-perceived differential diagnosis of temporomandibular disorder.

PubMed

Thoenissen, P; Bittermann, G; Schmelzeisen, R; Oshima, T; Fretwurst, T

2015-01-01

This article unveils a case of the classic styloid syndrome and states that panoramic imaging and ultrasound can be an alternative to computed tomography. In addition, the endoscope-assisted extraoral approach using CT-based navigation is useful. Eagle's Syndrome is an aggregate of symptoms described by Eagle in 1937. He described different forms: the classic styloid syndrome consisting of elongation of the styloid process which causes pain. Second, the stylo-carotid-artery syndrome which is responsible for transient ischemic attack or stroke. Using the example of a 66 years old male patient suffering from long term pain, we explain our diagnostic and surgical approach. After dissecting the styloid process of the right side using an extraoral approach, the pain ceased and the patient could be discharged without any recurrence of the pain up to this point. Eagle's syndrome, with its similar symptoms, is rather difficult to differentiate from temporomandibular joint disorders (TMD), but can be easily excluded from possible differential diagnoses of TMD using panoramic radiographs and ultrasound. Making use of low cost and easily accessible diagnostic workup techniques can reveal this particular cause for chronic pain restricting quality of life. Thereby differentiation from the TMD symptomatic complex is possible. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

[Isolated severe neurologic disorders in post-partum: posterior reversible encephalopathy syndrome].

PubMed

Wernet, A; Benayoun, L; Yver, C; Bruno, O; Mantz, J

2007-01-01

Just after Caesarean section for twin pregnancy and feto-pelvic dysproportion, a woman presented severe headaches and arterial hypertension, then blurred vision, then generalised seizures. There were no oedematous syndrome, proteinuria was negative, ASAT were 1.5 N and platelet count was 120,000/mm(3). Cerebral CT-scan was normal. Posterior reversible encephalopathy syndrome (PRES) was diagnosed on MRI. A second MRI performed at day 9 showed complete regression of cerebral lesions, while patient was taking anti-hypertensive and antiepileptic drugs. PRES has to be evoked in post-partum central neurological symptoms, even in absence of classical sign of pre-eclampsia, like proteinuria. PRES and eclampsia share probably common physiopathological pathways. There management and prognosis seems identical.

CT Perfusion of the Head

MedlinePlus

... News Physician Resources Professions Site Index A-Z CT Perfusion of the Head Computed tomography (CT) perfusion ... of CT Perfusion of the Head? What is CT Perfusion of the Head? Computed tomography (CT) perfusion ...

The pros and cons of intraoperative CT scan in evaluation of deep brain stimulation lead implantation: A retrospective study

PubMed Central

Servello, Domenico; Zekaj, Edvin; Saleh, Christian; Pacchetti, Claudio; Porta, Mauro

2016-01-01

Background: Deep brain stimulation (DBS) is an established therapy for movement disorders, such as Parkinson's disease (PD), dystonia, and tremor. The efficacy of DBS depends on the correct lead positioning. The commonly adopted postoperative radiological evaluation is performed with computed tomography (CT) scan and/or magnetic resonance imaging (MRI). Methods: We conducted a retrospective study on 202 patients who underwent DBS from January 2009 to October 2013. DBS indications were PD, progressive supranuclear palsy, tremor, dystonia, Tourette syndrome, obsessive compulsive disorder, depression, and Huntington's disease. Preoperatively, all patients underwent brain MRI and brain CT scan with the stereotactic frame positioned. The lead location was confirmed intraoperatively with CT. The CT images were subsequently transferred to the Stealth Station Medtronic and merged with the preoperative planning. On the first or second day after, implantation we performed a brain MRI to confirm the correct position of the lead. Results: In 14 patients, leads were in suboptimal position after intraoperative CT scan positioning. The cases with alteration in the Z-axis were corrected immediately under fluoroscopic guidance. In all the 14 patients, an immediate repositioning was done. Conclusions: Based on our data, intraoperative CT scan is fast, safe, and a useful tool in the evaluation of the position of the implanted lead. It also reduces the patient's discomfort derived from the transfer of the patient from the operating room to the radiological department. However, intraoperative CT should not be considered as a substitute for postoperative MRI. PMID:27583182

Motor aphasia as a rare presentation of fat embolism syndrome; a case report.

PubMed

Saeed-Banadaky, Seyed Houssein; Valizadeh, Sima; Ghilian, Marzieh

2015-01-01

Fat embolism syndrome is a clinical diagnosis, and diagnostic procedures are not specific. In every trauma patient, Fat embolism syndrome has to be considered as a possibility and supportive treatment should begin as soon as possible. The authors reported a rare case of Fat embolism syndrome whose only neurological symptom was motor aphasia. A young man sustained comminuted femoral shaft fracture following an accident presented dyspnea, motor aphasia and petechial rash. The Po2 and O2 Saturation were 53 and 91.1%. The body temperature was 38.5 °C. The hemoglobin decreased from 12.9 to 8.7 and platelet from 121000 to 84000 mg/dl. The pulse rate was 120 bpm. The CT scan and MRI were normal. Fat embolism syndrome was diagnosed according to both Gurd and Schonfeld criteria ruling out other possible causes. Patient recovered completely. Although rare, focal neurological symptoms and motor aphasia should be kept in mind as a part of diagnostic criteria.

Multiple myeloma associated with an Evan’s syndrome

PubMed Central

Bechir, Achour; Haifa, Regaieg; Nesrine, Ben Sayed; Emna, Bouslema; Senda, Mejdoub; Asma, Achour; Amina, Bouatay Bouzouita; Mrabet, Senda; Yosra, Ben Youssef; Mondher, Kortas; Abderrahim, Khelif

2016-01-01

Auto-immun events are rare in multiple myeloma (MM). Here, we report one MM case complicated by Evans syndrome (Autoimmun hemolytic anemia (AIHA) associated with thrombocytopenia). A 52-year-old man was admitted in nephrology department with severe anemia, renal insufficiency and hypergamma globulinemia. Laboratory exams showed acute hemolysis due to an IgG warm autoantibody. Serum electrophoresis revealed the presence of a monoclonal IgG protein and urinary M protein was 2g/day. A whole body CT-Scan showed osteolytic lesions of vertebral body of C5, D4, L3, L4 and the left iliac wing. The diagnosis of multiple myeloma and Evan's syndrome was made, we underwent chemotherapy by BTD (bortezomib-thalidomide-dexamethasone) and continuous corticosteroid therapy but unfortunately the patient died secondary of a Lactic acidosis. The relationship between MM and hemolysis remain unclear. PMID:28292089

CT Scans

MedlinePlus

... cross-sectional pictures of your body. Doctors use CT scans to look for Broken bones Cancers Blood clots Signs of heart disease Internal bleeding During a CT scan, you lie still on a table. The table ...

Preventive role of exercise training in autonomic, hemodynamic, and metabolic parameters in rats under high risk of metabolic syndrome development.

PubMed

Moraes-Silva, Ivana Cinthya; Mostarda, Cristiano; Moreira, Edson Dias; Silva, Kleiton Augusto Santos; dos Santos, Fernando; de Angelis, Kátia; Farah, Vera de Moura Azevedo; Irigoyen, Maria Claudia

2013-03-15

High fructose consumption contributes to metabolic syndrome incidence, whereas exercise training promotes several beneficial adaptations. In this study, we demonstrated the preventive role of exercise training in the metabolic syndrome derangements in a rat model. Wistar rats receiving fructose overload in drinking water (100 g/l) were concomitantly trained on a treadmill (FT) or kept sedentary (F) for 10 wk. Control rats treated with normal water were also submitted to exercise training (CT) or sedentarism (C). Metabolic evaluations consisted of the Lee index and glycemia and insulin tolerance test (kITT). Blood pressure (BP) was directly measured, whereas heart rate (HR) and BP variabilities were evaluated in time and frequency domains. Renal sympathetic nerve activity was also recorded. F rats presented significant alterations compared with all the other groups in insulin resistance (in mg · dl(-1) · min(-1): F: 3.4 ± 0.2; C: 4.7 ± 0.2; CT: 5.0 ± 0.5 FT: 4.6 ± 0.4), mean BP (in mmHG: F: 117 ± 2; C: 100 ± 2; CT: 98 ± 2; FT: 105 ± 2), and Lee index (in g/mm: F = 0.31 ± 0.001; C = 0.29 ± 0.001; CT = 0.27 ± 0.002; FT = 0.28 ± 0.002), confirming the metabolic syndrome diagnosis. Exercise training blunted all these derangements. Additionally, FS group presented autonomic dysfunction in relation to the others, as seen by an ≈ 50% decrease in baroreflex sensitivity and 24% in HR variability, and increases in sympathovagal balance (140%) and in renal sympathetic nerve activity (45%). These impairments were not observed in FT group, as well as in C and CT. Correlation analysis showed that both Lee index and kITT were associated with vagal impairment caused by fructose. Therefore, exercise training plays a preventive role in both autonomic and hemodynamic alterations related to the excessive fructose consumption.

Advances in Pancreatic CT Imaging.

PubMed

Almeida, Renata R; Lo, Grace C; Patino, Manuel; Bizzo, Bernardo; Canellas, Rodrigo; Sahani, Dushyant V

2018-07-01

The purpose of this article is to discuss the advances in CT acquisition and image postprocessing as they apply to imaging the pancreas and to conceptualize the role of radiogenomics and machine learning in pancreatic imaging. CT is the preferred imaging modality for assessment of pancreatic diseases. Recent advances in CT (dual-energy CT, CT perfusion, CT volumetry, and radiogenomics) and emerging computational algorithms (machine learning) have the potential to further increase the value of CT in pancreatic imaging.

Xenon-enhanced CT using subtraction CT: Basic and preliminary clinical studies for comparison of its efficacy with that of dual-energy CT and ventilation SPECT/CT to assess regional ventilation and pulmonary functional loss in smokers.

PubMed

Ohno, Yoshiharu; Yoshikawa, Takeshi; Takenaka, Daisuke; Fujisawa, Yasuko; Sugihara, Naoki; Kishida, Yuji; Seki, Shinichiro; Koyama, Hisanobu; Sugimura, Kazuro

2017-01-01

To prospectively and directly compare the capability for assessments of regional ventilation and pulmonary functional loss in smokers of xenon-ventilation CT obtained with the dual-energy CT (DE-CT) and subtraction CT (Sub-CT) MATERIALS AND METHODS: Twenty-three consecutive smokers (15 men and 8 women, mean age: 69.7±8.7years) underwent prospective unenhanced and xenon-enhanced CTs, the latter by Sub-CT and DE-CT methods, ventilation SPECT and pulmonary function tests. Sub-CT was generated from unenhanced and xenon-enhanced CT, and all co-registered SPECT/CT data were produced from SPECT and unenhanced CT data. For each method, regional ventilation was assessed by using a 11-point scoring system on a per-lobe basis. To determine the functional lung volume by each method, it was also calculated for individual sublets with a previously reported method. To determine inter-observer agreement for each method, ventilation defect assessment was evaluated by using the χ2 test with weighted kappa statistics. For evaluation of the efficacy of each method for pulmonary functional loss assessment, functional lung volume was correlated with%FEV 1 . Each inter-observer agreement was rated as substantial (Sub-CT: κ=0.69, p<0.0001; DE-CT: κ=0.64, p<0.0001; SPECT/CT: κ=0.64, p<0.0001). Functional lung volume for each method showed significant to good correlation with%FEV 1 (Sub-CT: r=0.72, p=0.0001; DE-CT: r=0.74, p<0.0001; SPECT/CT: r=0.66, p=0.0006). Xenon-enhanced CT obtained by Sub-CT can be considered at least as efficacious as that obtained by DE-CT and SPECT/CT for assessment of ventilation abnormality and pulmonary functional loss in smokers. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Attenuation correction of emission PET images with average CT: Interpolation from breath-hold CT

NASA Astrophysics Data System (ADS)

Huang, Tzung-Chi; Zhang, Geoffrey; Chen, Chih-Hao; Yang, Bang-Hung; Wu, Nien-Yun; Wang, Shyh-Jen; Wu, Tung-Hsin

2011-05-01

Misregistration resulting from the difference of temporal resolution in PET and CT scans occur frequently in PET/CT imaging, which causes distortion in tumor quantification in PET. Respiration cine average CT (CACT) for PET attenuation correction has been reported to improve the misalignment effectively by several papers. However, the radiation dose to the patient from a four-dimensional CT scan is relatively high. In this study, we propose a method to interpolate respiratory CT images over a respiratory cycle from inhalation and exhalation breath-hold CT images, and use the average CT from the generated CT set for PET attenuation correction. The radiation dose to the patient is reduced using this method. Six cancer patients of various lesion sites underwent routine free-breath helical CT (HCT), respiration CACT, interpolated average CT (IACT), and 18F-FDG PET. Deformable image registration was used to interpolate the middle phases of a respiratory cycle based on the end-inspiration and end-expiration breath-hold CT scans. The average CT image was calculated from the eight interpolated CT image sets of middle respiratory phases and the two original inspiration and expiration CT images. Then the PET images were reconstructed by these three methods for attenuation correction using HCT, CACT, and IACT. Misalignment of PET image using either CACT or IACT for attenuation correction in PET/CT was improved. The difference in standard uptake value (SUV) from tumor in PET images was most significant between the use of HCT and CACT, while the least significant between the use of CACT and IACT. Besides the similar improvement in tumor quantification compared to the use of CACT, using IACT for PET attenuation correction reduces the radiation dose to the patient.

Small-animal CT: Its difference from, and impact on, clinical CT

NASA Astrophysics Data System (ADS)

Ritman, Erik L.

2007-10-01

For whole-body computed tomography (CT) images of small rodents, a voxel resolution of at least 10 -3 mm 3 is needed for scale-equivalence to that currently achieved in clinical CT scanners (˜1 mm 3) in adult humans. These "mini-CT" images generally require minutes rather than seconds to complete a scan. The radiation exposure resulting from these mini-CT scans, while higher than clinical CT scans, is below the level resulting in acute tissue damage. Hence, these scans are useful for performing clinical-type diagnostic and monitoring scans for animal models of disease and their response to treatment. "Micro-CT", with voxel size <10 -5 mm 3, has been useful for imaging isolated, intact organs at an almost cellular level of resolution. Micro-CT has the great advantage over traditional microscopic methods in that it generates detailed three-dimensional images in relatively large, opaque volumes such as an intact rodent heart or kidney. The radiation exposure needed in these scans results in acute tissue damage if used in living animals. Experience with micro-CT is contributing to exploration of new applications for clinical CT imaging by providing insights into different modes of X-ray image formation as follows: Spatial resolution should be sufficient to detect an individual Basic Functional Unit (BFU, the smallest collection of diverse cells, such as hepatic lobule, that behaves like the organ), which requires voxels ˜10 -3 mm 3 in volume, so that the BFUs can be counted. Contrast resolution sufficient to allow quantitation of: New microvascular growth, which manifests as increased tissue contrast due to X-ray contrast agent in those vessels' lumens during passage of injected contrast agent in blood. Impaired endothelial integrity which manifests as increased opacification and delayed washout of contrast from tissues. Discrimination of pathological accumulations of metals such as Fe and Ca, which occur in the arterial wall following hemorrhage or tissue damage

A Rare Cause of Obstructive Sleep Apnea Syndrome: Retropharyngeal Lipoma

PubMed Central

Dilek, Okan; Yilmaz, Cengiz; Gulek, Bozkurt; Akin, Mehmet Ali

2017-01-01

Lipoma is the most common benign mesenchymal neoplasm. About 16% of lipomas arise in the head and neck region, especially in the posterior neck. Large lipomas that originate from the retropharyngeal space may cause dyspnea, dysphagia, and snoring and occasionally may lead to obstructive sleep apnea syndrome (OSAS). Herein, we report a 45-year-old male patient with OSAS caused by a giant retropharyngeal lipoma with emphasis on CT findings. PMID:28912996

Cerebro-fronto-facial syndrome type 3 with polymicrogyria: a clinical presentation of Baraitser-Winter syndrome.

PubMed

Eker, Hatice Koçak; Derinkuyu, Betül Emine; Ünal, Sevim; Masliah-Planchon, Julien; Drunat, Séverine; Verloes, Alain

2014-01-01

Baraitser-Winter syndrome (BRWS) is a rare condition affecting the development of the brain and the face. The most common characteristics are unusual facial appearance including hypertelorism and ptosis, ocular colobomas, hearing loss, impaired neuronal migration and intellectual disability. BRWS is caused by mutations in the ACTB and ACTG1 genes. Cerebro-fronto-facial syndrome (CFFS) is a clinically heterogeneous condition with distinct facial dysmorphism, and brain abnormalities. Three subtypes are identified. We report a female infant with striking facial features and brain anomalies (included polymicrogyria) that fit into the spectrum of the CFFS type 3 (CFFS3). She also had minor anomalies on her hands and feet, heart and kidney malformations, and recurrent infections. DNA investigations revealed c.586C>T mutation (p.Arg196Cys) in ACTB. This mutation places this patient in the spectrum of BRWS. The same mutation has been detected in a polymicrogyric patient reported previously in literature. We expand the malformation spectrum of BRWS/CFFS3, and present preliminary findings for phenotype-genotype correlation in this spectrum. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

[Genetic analysis of two children patients affected with CHARGE syndrome].

PubMed

Li, Guoqiang; Li, Niu; Xu, Yufei; Li, Juan; Ding, Yu; Shen, Yiping; Wang, Xiumin; Wang, Jian

2018-04-10

To analyze two Chinese pediatric patients with multiple malformations and growth and development delay. Both patients were subjected to targeted gene sequencing, and the results were analyzed with Ingenuity Variant Analysis software. Suspected pathogenic variations were verified by Sanger sequencing. High-throughput sequencing showed that both patients have carried heterozygous variants of the CHD7 gene. Patient 1 carried a nonsense mutation in exon 36 (c.7957C>T, p.Arg2653*), while patient 2 carried a nonsense mutation of exon 2 (c.718C>T, p.Gln240*). Sanger sequencing confirmed the above mutations in both patients, while their parents were of wild-type for the corresponding sites, indicating that the two mutations have happened de novo. Two patients were diagnosed with CHARGE syndrome by high-throughput sequencing.

Comparison of helical and cine acquisitions for 4D-CT imaging with multislice CT.

PubMed

Pan, Tinsu

2005-02-01

We proposed a data sufficiency condition (DSC) for four-dimensional-CT (4D-CT) imaging on a multislice CT scanner, designed a pitch factor for a helical 4D-CT, and compared the acquisition time, slice sensitivity profile (SSP), effective dose, ability to cope with an irregular breathing cycle, and gating technique (retrospective or prospective) of the helical 4D-CT and the cine 4D-CT on the General Electric (GE) LightSpeed RT (4-slice), Plus (4-slice), Ultra (8-slice) and 16 (16-slice) multislice CT scanners. To satisfy the DSC, a helical or cine 4D-CT acquisition has to collect data at each location for the duration of a breathing cycle plus the duration of data acquisition for an image reconstruction. The conditions for the comparison were 20 cm coverage in the cranial-caudal direction, a 4 s breathing cycle, and half-scan reconstruction. We found that the helical 4D-CT has the advantage of a shorter scan time that is 10% shorter than that of the cine 4D-CT, and the disadvantages of 1.8 times broadening of SSP and requires an additional breathing cycle of scanning to ensure an adequate sampling at the start and end locations. The cine 4D-CT has the advantages of maintaining the same SSP as slice collimation (e.g., 8 x 2.5 mm slice collimation generates 2.5 mm SSP in the cine 4D-CT as opposed to 4.5 mm in the helical 4D-CT) and a lower dose by 4% on the 8- and 16-slice systems, and 8% on the 4-slice system. The advantage of faster scanning in the helical 4D-CT will diminish if a repeat scan at the location of a breathing irregularity becomes necessary. The cine 4D-CT performs better than the helical 4D-CT in the repeat scan because it can scan faster and is more dose efficient.

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.

PubMed

Kvarnung, M; Taylan, F; Nilsson, D; Albåge, M; Nordenskjöld, M; Anderlid, B M; Nordgren, A; Syk Lundberg, E

2016-01-01

Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (PVHH, OMIM 225790), also known as Fowler syndrome, is a rare autosomal recessive disorder, caused by mutations in FLVCR2. Hallmarks of the syndrome are glomerular vasculopathy in the central nervous system, severe hydrocephaly, hypokinesia and arthrogryphosis. The disorder is considered prenatally lethal. We report the first patients, a brother and a sister, with Fowler syndrome and survival beyond infancy. The patients present a phenotype of severe intellectual and neurologic disability with seizures, absence of functional movements, and no means of communication. Imaging of the brain showed calcifications, profound ventriculomegaly with only a thin edging of the cerebral cortex and hypoplastic cerebellum. Investigation with whole-exome sequencing (WES) revealed, in both patients, a homozygous pathogenic mutation in FLVCR2, c.1289C>T, compatible with a diagnosis of Fowler syndrome. The results highlight the power of combining WES with a thorough clinical examination in order to identify disease-causing mutations in patients whose clinical presentation differs from previously described cases. Specifically, the findings demonstrate that Fowler syndrome is a diagnosis to consider, not only prenatally but also in severely affected children with gross ventriculomegaly on brain imaging. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Superior Canal Dehiscence Syndrome Affecting 3 Families.

PubMed

Heidenreich, Katherine D; Kileny, Paul R; Ahmed, Sameer; El-Kashlan, Hussam K; Melendez, Tori L; Basura, Gregory J; Lesperance, Marci M

2017-07-01

Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. To describe 7 cases of SCDS across 3 families. This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence. Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings. The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence. A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0. Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology

CT AND MRI FEATURES OF CAROTID BODY PARAGANGLIOMAS IN 16 DOGS.

PubMed

Mai, Wilfried; Seiler, Gabriela S; Lindl-Bylicki, Britany J; Zwingenberger, Allison L

2015-01-01

Carotid body tumors (paragangliomas) arise from chemoreceptors located at the carotid bifurcation. In imaging studies, this neoplasm may be confused with other neck neoplasms such as thyroid carcinoma. The purpose of this retrospective, cross-sectional study was to describe computed tomographic (CT) and magnetic resonance imaging (MRI) characteristics of confirmed carotid body tumors in a multi-institutional sample of dogs. A total of 16 dogs met inclusion criteria (14 examined using CT and two with MRI). The most common reason for imaging was a palpable cervical mass or respiratory signs (i.e., dyspnea or increased respiratory noises). The most commonly affected breed was Boston terrier (n = 5). Dogs were predominantly male castrated (n = 10) and the median age was 9 years [range 3-14.5]. Most tumors appeared as a large mass centered at the carotid bifurcation, with poor margination in six dogs and discrete margins in ten dogs. Masses were iso- to hypoattenuating to adjacent muscles in CT images and hyperintense to muscles in T1- and T2-weighted MRI. For both CT and MRI, masses typically showed strong and heterogeneous contrast enhancement. There was invasion into the adjacent structures in 9/16 dogs. In six of these nine dogs, the basilar portion of the skull was affected. The external carotid artery was entrapped in seven dogs. There was invasion into the internal jugular vein in three dogs, and into the external jugular, maxillary, and linguo-facial veins in one dog. Imaging characteristics helped explain some clinical presentations such as breathing difficulties, Horner's syndrome, head tilt, or facial nerve paralysis. © 2015 American College of Veterinary Radiology.

Three cases with L1 syndrome and two novel mutations in the L1CAM gene.

PubMed

Marín, Rosario; Ley-Martos, Miriam; Gutiérrez, Gema; Rodríguez-Sánchez, Felicidad; Arroyo, Diego; Mora-López, Francisco

2015-11-01

Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families with L1 syndrome. Sequencing of the L1CAM gene allowed the identification of the following mutations involved: a known splicing mutation (c.3531-12G>A) and two novel ones: a missense mutation (c.1754A>C; p.Asp585Ala) and a nonsense mutation (c.3478C>T; p.Gln1160Stop). The number of affected males and carrier females identified in a relatively small population suggests that L1 syndrome may be under-diagnosed. L1 syndrome should be considered in the differential diagnosis of intellectual disability or mental retardation in children, especially when other signs such as hydrocephalus or adducted thumbs are present.

Cauda equina syndrome complicating ankylosing spondylitis: use of electromyography and computerised tomography in diagnosis.

PubMed

Young, A; Dixon, A; Getty, J; Renton, P; Vacher, H

1981-06-01

A case of the cauda equina syndrome complicating ankylosing spondylitis (AS) is described. An unusual feature of this case was the relapsing and remitting nature of the condition, but there is sufficient evidence to explain the clinical picture on the basis of a recurrent intraspinal inflammatory process. The clinical and radiological features are similar to those of a further 28 reported in the literature. An electromyogram (EMG) proved important in defining the extent of neurological involvement. Computerised tomography (CT) showed marked laminar erosion and no bony exit foramen encroachment. We believe that the clinical diagnosis of this condition can be adequately confirmed with plain radiology, EMG, and CT scan.

A case of posterior reversible encephalopathy syndrome associated with acute pancreatitis and chronic alcoholism.

PubMed

Baek, Hyun Seok; Lee, Se-Jin

2015-01-01

Posterior reversible encephalopathy syndrome (PRES) is known to be caused by a variety of clinical disorders. The authors encountered a case of PRES associated with acute pancreatitis and chronic alcoholism. A 49-year-old man presented with altered mental status. Magnetic resonance imaging (MRI) displayed vasogenic edema at the bilateral posterior temporal and parieto-occipital lobes and cerebellum. Laboratory tests and abdominal computed tomography (CT) revealed acute pancreatitis. The patient recovered completely, and follow-up brain MRI and abdominal CT exhibited resolution of the previous lesions. We suggest that acute pancreatitis might be an etiology of PRES. Copyright © 2015 Elsevier Inc. All rights reserved.

[H syndrome: First reported paediatric case in Latin America].

PubMed

Abarca Barriga, Hugo Hernán; Trubnykova, Milana; Polar Córdoba, Victoria; Ramos Diaz, Katherine Joyce; Aviles Alfaro, Nélida

H Syndrome is an extremely rare genetic disease, with a multisystemic character and which can be identified in early childhood, offering the opportunity of specific treatment and genetic counselling. To present a clinical case with "typical" characteristics of H Syndrome. The case is presented of an 8-year-old male patient who presented with testicular tumours and skin lesions characterised by hyperpigmentation with hypertrichosis, language delay, short stature, and joint deformities. He also presented with bilateral sensorineural hearing loss, anaemia, hypergammaglobulinaemia, and bone disorders. Histopathology studies of the skin and testicular masses reported lymphoplasmacytic infiltration. Sequencing analysis of gene SLC29A3 showed the homozygote mutation c.1087 C>T (p.Arg363Trp; rs387907067). These findings are consistent with H syndrome, and this is the first reported case in Latin America. The key to the diagnosis is the finding of hyperpigmentation with hypertrichosis. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Improved attenuation correction for respiratory gated PET/CT with extended-duration cine CT: a simulation study

NASA Astrophysics Data System (ADS)

Zhang, Ruoqiao; Alessio, Adam M.; Pierce, Larry A.; Byrd, Darrin W.; Lee, Tzu-Cheng; De Man, Bruno; Kinahan, Paul E.

2017-03-01

Due to the wide variability of intra-patient respiratory motion patterns, traditional short-duration cine CT used in respiratory gated PET/CT may be insufficient to match the PET scan data, resulting in suboptimal attenuation correction that eventually compromises the PET quantitative accuracy. Thus, extending the duration of cine CT can be beneficial to address this data mismatch issue. In this work, we propose to use a long-duration cine CT for respiratory gated PET/CT, whose cine acquisition time is ten times longer than a traditional short-duration cine CT. We compare the proposed long-duration cine CT with the traditional short-duration cine CT through numerous phantom simulations with 11 respiratory traces measured during patient PET/CT scans. Experimental results show that, the long-duration cine CT reduces the motion mismatch between PET and CT by 41% and improves the overall reconstruction accuracy by 42% on average, as compared to the traditional short-duration cine CT. The long-duration cine CT also reduces artifacts in PET images caused by misalignment and mismatch between adjacent slices in phase-gated CT images. The improvement in motion matching between PET and CT by extending the cine duration depends on the patient, with potentially greater benefits for patients with irregular breathing patterns or larger diaphragm movements.

Type IV Ehlers-Danlos Syndrome: A Surgical Emergency? A Case of Massive Retroperitoneal Hemorrhage

PubMed Central

Chun, Stephen G; Pedro, Patrick; Yu, Mihae; Takanishi, Danny M

2011-01-01

Retroperitoneal hemorrhagic bleeding is a known manifestation of Type-IV Ehlers-Danlos Syndrome that is caused by loss-of-function mutations of the pro-alpha-1 chains of type III pro-collagen (COL3A1) resulting in vascular fragility. A number of previous reports describe futile surgical intervention for retroperitoneal bleeding in Type-IV Ehlers-Danlos Syndrome with high post-operative mortality, although the rarity of retroperitoneal bleeding associated with Type-IV Ehlers-Danlos Syndrome precludes an evidence-based approach to clinical management. We report a 23-year-old male with history of Type-IV Ehlers-Danlos Syndrome who presented with severe abdominal pain and tachycardia following an episode of vomiting. Further work-up of his abdominal pain revealed massive retroperitoneal bleeding by CT-scan of the abdomen. Given numerous cases of catastrophic injury caused by surgical intervention in Type-IV Ehlers-Danlos Syndrome, the patient was treated non-operatively, and the patient made a full recovery. This case suggests that even in cases of large retroperitoneal hemorrhages associated with Ehlers-Danlos Syndrome, it may not truly represent a surgical emergency. PMID:21966332

Enhancing 18F-FDG-PET/CT analysis in lung cancer patients. Is CT-CT image fusion helpful in predicting pleural involvement? A pilot study.

PubMed

Kapfhammer, A; Winkens, T; Lesser, T; Reissig, A; Steinert, M; Freesmeyer, M

2015-01-01

To retrospectively evaluate the feasibility and value of CT-CT image fusion to assess the shift of peripheral lung cancers with/-out chest wall infiltration, comparing computed tomography acquisitions in shallow-breathing (SB-CT) and deep-inspiration breath-hold (DIBH-CT) in patients undergoing FDG-PET/CT for lung cancer staging. Image fusion of SB-CT and DIBH-CT was performed with a multimodal workstation used for nuclear medicine fusion imaging. The distance of intrathoracic landmarks and the positional shift of tumours were measured using semi-transparent overlay of both CT series. Statistical analyses were adjusted for confounders of tumour infiltration. Cutoff levels were calculated for prediction of no-/infiltration. Lateral pleural recessus and diaphragm showed the largest respiratory excursions. Infiltrating lung cancers showed more limited respiratory shifts than non-infiltrating tumours. A large respiratory tumour-motility accurately predicted non-infiltration. However, the tumour shifts were limited and variable, limiting the accuracy of prediction. This pilot fusion study proved feasible and allowed a simple analysis of the respiratory shifts of peripheral lung tumours using CT-CT image fusion in a PET/CT setting. The calculated cutoffs were useful in predicting the exclusion of chest wall infiltration but did not accurately predict tumour infiltration. This method can provide additional qualitative information in patients with lung cancers with contact to the chest wall but unclear CT evidence of infiltration undergoing PET/CT without the need of additional investigations. Considering the small sample size investigated, further studies are necessary to verify the obtained results.

Prevalence of Tourette Syndrome and Chronic Tics in the Population-Based Avon Longitudinal Study of Parents and Children Cohort

ERIC Educational Resources Information Center

Scharf, Jeremiah M.; Miller, Laura L.; Mathews, Carol A.; Ben-Shlomo, Yoav

2012-01-01

Objective: Recent epidemiologic studies have demonstrated that Tourette syndrome (TS) and chronic tic disorder (CT) are more common than previously recognized. However, few population-based studies have examined the prevalence of co-occurring neuropsychiatric conditions such as obsessive-compulsive disorder (OCD) and…

Cervical spine CT scan

MedlinePlus

... cervical spine; Computed tomography scan of cervical spine; CT scan of cervical spine; Neck CT scan ... table that slides into the center of the CT scanner. Once you are inside the scanner, the ...

Micro-CT and nano-CT analysis of filling quality of three different endodontic sealers.

PubMed

Huang, Yan; Celikten, Berkan; de Faria Vasconcelos, Karla; Ferreira Pinheiro Nicolielo, Laura; Lippiatt, Nicholas; Buyuksungur, Arda; Jacobs, Reinhilde; Orhan, Kaan

2017-12-01

To investigate voids in different root canal sealers using micro-CT and nano-CT, and to explore the feasibility of using nano-CT for quantitative analysis of sealer filling quality. 30 extracted mandibular central incisors were randomly assigned into three groups according to the applied root canal sealers (Total BC Sealer, Sure Seal Root, AH Plus) by the single cone technique. Subsequently, micro-CT and nano-CT were performed to analyse the incidence rate of voids, void fraction, void volume and their distribution in each sample. Micro-CT evaluation showed no significant difference among sealers for the incidence rate of voids or void fraction in the whole filling materials (p > 0.05), whereas a significant difference was found between AH Plus and the other two sealers using nano-CT (p < 0.05). All three sealers presented less void volume in the apical third; however, higher void volumes were observed in the apical and coronal thirds in AH Plus using micro-CT (p < 0.05), while nano-CT results displayed higher void volume in AH Plus among all the sealers and regions (p < 0.05). Bioactive sealers showed higher root filling rate, lower incidence rate of voids, void fraction and void volume than AH Plus under nano-CT analysis, when round root canals were treated by the single cone technique. The disparate results suggest that the higher resolution of nano-CT have a greater ability of distinguishing internal porosity, and therefore suggesting the potential use of nano-CT in quantitative analysis of filling quality of sealers.

Marketing cardiac CT programs.

PubMed

Scott, Jason

2010-01-01

There are two components of cardiac CT discussed in this article: coronary artery calcium scoring (CACS) and coronary computed tomography angiography (CCTA).The distinctive advantages of each CT examination are outlined. In order to ensure a successful cardiac CT program, it is imperative that imaging facilities market their cardiac CT practices effectively in order to gain a competitive advantage in this valuable market share. If patients receive quality care by competent individuals, they are more likely to recommend the facility's cardiac CT program. Satisfied patients will also be more willing to come back for any further testing.

A Case of Paraneoplastic Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome Improved by Chemotherapy

PubMed Central

Sakamoto, Takahiko; Ota, Shuji; Haruyama, Terunobu; Ishihara, Masashi; Natsume, Maika; Fukasawa, Yoko; Tanzawa, Shigeru; Usui, Ryo; Honda, Takeshi; Ichikawa, Yasuko; Watanabe, Kiyotaka; Seki, Nobuhiko

2017-01-01

The patient was a 69-year-old male who had started experiencing acute-onset pain in both shoulder joints and edema of both hands and feet. His symptoms progressively worsened within 1 month. Laboratory data indicated elevated CRP and erythrocyte sedimentation rate despite the normal range of antinuclear antibodies and rheumatoid factor and normal organ function. Furthermore, imaging data of the hand indicated synovitis without bone erosions. Meanwhile, chest CT revealed a lung tumor, leading to a diagnosis of primary lung adenocarcinoma with EGFR mutation (cT2aN3M0, stage IIIB). Based on these findings, he was diagnosed as suffering from paraneoplastic remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Thereafter, his symptoms disappeared as the tumor size was rapidly decreased by gefitinib therapy for lung adenocarcinoma. Currently, RS3PE syndrome can be classified as a vascular endothelial growth factor (VEGF)-associated disorder. Given that his symptoms improved by chemotherapy, the present case further supported the possible hypothesis that paraneoplastic RS3PE syndrome might be caused by tumor-induced VEGF. Therefore, the present case suggested that the symptoms of acute-onset joint pain accompanied by pitting edema in elderly patients should be considered suspicious for a malignant tumor, thereby warranting a detailed full-body examination. PMID:29430239

[Study of gene mutation and pathogenetic mechanism for a family with Waardenburg syndrome].

PubMed

Chen, Hongsheng; Liao, Xinbin; Liu, Yalan; He, Chufeng; Zhang, Hua; Jiang, Lu; Feng, Yong; Mei, Lingyun

2017-08-10

To explore the pathogenetic mechanism of a family affected with Waardenburg syndrome. Clinical data of the family was collected. Potential mutation of the MITF, SOX10 and SNAI2 genes were screened. Plasmids for wild type (WT) and mutant MITF proteins were constructed to determine their exogenous expression and subcellular distribution by Western blotting and immunofluorescence assay, respectively. A heterozygous c.763C>T (p.R255X) mutation was detected in exon 8 of the MITF gene in the proband and all other patients from the family. No pathological mutation of the SOX10 and SNAI2 genes was detected. The DNA sequences of plasmids of MITF wild and mutant MITF R255X were confirmed. Both proteins were detected with the expected size. WT MITF protein only localized in the nucleus, whereas R255X protein showed aberrant localization in the nucleus as well as the cytoplasm. The c.763C>T mutation of the MITF gene probably underlies the disease in this family. The mutation can affect the subcellular distribution of MITF proteins in vitro, which may shed light on the molecular mechanism of Waardenburg syndrome caused by mutations of the MITF gene.

Dose calculation with respiration-averaged CT processed from cine CT without a respiratory surrogate

DOE Office of Scientific and Technical Information (OSTI.GOV)

Riegel, Adam C.; Ahmad, Moiz; Sun Xiaojun

2008-12-15

Dose calculation for thoracic radiotherapy is commonly performed on a free-breathing helical CT despite artifacts caused by respiratory motion. Four-dimensional computed tomography (4D-CT) is one method to incorporate motion information into the treatment planning process. Some centers now use the respiration-averaged CT (RACT), the pixel-by-pixel average of the ten phases of 4D-CT, for dose calculation. This method, while sparing the tedious task of 4D dose calculation, still requires 4D-CT technology. The authors have recently developed a means to reconstruct RACT directly from unsorted cine CT data from which 4D-CT is formed, bypassing the need for a respiratory surrogate. Using RACTmore » from cine CT for dose calculation may be a means to incorporate motion information into dose calculation without performing 4D-CT. The purpose of this study was to determine if RACT from cine CT can be substituted for RACT from 4D-CT for the purposes of dose calculation, and if increasing the cine duration can decrease differences between the dose distributions. Cine CT data and corresponding 4D-CT simulations for 23 patients with at least two breathing cycles per cine duration were retrieved. RACT was generated four ways: First from ten phases of 4D-CT, second, from 1 breathing cycle of images, third, from 1.5 breathing cycles of images, and fourth, from 2 breathing cycles of images. The clinical treatment plan was transferred to each RACT and dose was recalculated. Dose planes were exported at orthogonal planes through the isocenter (coronal, sagittal, and transverse orientations). The resulting dose distributions were compared using the gamma ({gamma}) index within the planning target volume (PTV). Failure criteria were set to 2%/1 mm. A follow-up study with 50 additional lung cancer patients was performed to increase sample size. The same dose recalculation and analysis was performed. In the primary patient group, 22 of 23 patients had 100% of points within the PTV pass

CRYPTOSPORIDIUM LOG-INACTIVATION WITH OZONE USING EFFLUENT CT 10, GEOMETRIC MEAN CT 10 EXTENDED INTEGRATED CT 10 AND EXTENDED-CSTR CALCULATIONS

EPA Science Inventory

The draft Long Term 2 Enhanced Surface Water Treatment Rule ("LT2ESWTR") contains Cryptosporidium log-inactivation CT tables. Depending on the water temperature, the Cryptosporidium CT values that are listed are 15 to 25 times greater than CT values fo...

Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.

PubMed

Verheij, E; Elden, L; Crowley, T B; Pameijer, F A; Zackai, E H; McDonald-McGinn, D M; Thomeer, H G X M

2018-05-01

The 22q11.2 deletion syndrome is characterized by a heterogenic phenotype, including hearing loss. The underlying cause of hearing loss, especially sensorineural hearing loss, is not yet clear. Therefore, our objective was to describe anatomic malformations in the middle and inner ear in patients with 22q11.2 deletion syndrome. A retrospective case series was conducted in 2 tertiary referral centers. All patients with 22q11.2 deletion syndrome who had undergone CT or MR imaging of the temporal bones were included. Radiologic images were evaluated on predetermined parameters, including abnormalities of the ossicular chain, cochlea, semicircular canals, and vestibule. There were 26 patients (52 ears) with a CT or MR imaging scan available. A dense stapes superstructure was found in 18 ears (36%), an incomplete partition type II was suspected in 12 cochleas (23%), the lateral semicircular canal was malformed with a small bony island in 17 ears (33%), and the lateral semicircular canal and vestibule were fused to a single cavity in 15 ears (29%). Middle and inner ear abnormalities were frequently encountered in our cohort, including malformations of the lateral semicircular canal. © 2018 by American Journal of Neuroradiology.

Cavernous sinus syndrome due to osteochondromatosis in a cat.

PubMed

Perazzi, Anna; Bernardini, Marco; Mandara, Maria T; De Benedictis, Giulia M; De Strobel, Francesca; Zotti, Alessandro

2013-12-01

A 1-year-old sexually intact male Korat cat was referred for ophthalmological consultation due to anisocoria. Mydriasis with external ophthalmoplegia and absence of pupillary light responses in the right eye and nasofacial hypalgesia were seen. Cavernous sinus syndrome (CSS) was suspected. Bilateral deformities of the jaw and phalangeal bones, severe spinal pain and abnormal conformation of the lumbar spine were also present. Radiographic examination revealed several mineralised masses in the appendicular and axial skeleton, indicative of multiple cartilaginous exostoses. For further investigation of the CSS-related neurological deficits, the cat underwent computed tomography (CT) examination of the skull. CT images revealed a non-vascularised, calcified, amorphous mass originating from the right lateral skull base and superimposing on the sella turcica. Based on the severity of diffuse lesions and owing to the clinical signs of extreme pain, the cat was euthanased. A diffuse skeletal and intracranial osteochondromatosis was diagnosed histologically.

Avascular necrosis of the hips with increased activity on 68Ga-DOTATATE PET/CT

PubMed Central

Papadakis, Georgios Z.; Millo, Corina; Karantanas, Apostolos H.; Bagci, Ulas; Patronas, Nicholas J.

2016-01-01

Prolonged exposure to cortisol is one of the major causes of avascular bone necrosis (AVN). We report on a case of a woman with Cushing’s syndrome attributed to ectopic ACTH secreting tumor who was evaluated with whole body PET/CT study using 68Ga-DOTATATE. The scan showed increased activity by both femoral heads, corresponding to the margins of bilateral AVN seen on MRI. The presented data suggests AVN-induced reactive inflammatory alterations adjacent to the necrotic segment of the bone which can be effectively targeted using radiolabeled somatostatin (SST) analogues. PMID:28033218

Posterior reversible encephalopathy syndrome mimicking a left middle cerebral artery stroke.

PubMed

Terranova, Santo; Kumar, Jai Dev; Libman, Richard B

2012-01-01

Certain Acute Clinical presentations are highly suggestive of stroke caused by specific mechanisms. One example of this would be the sudden onset of aphasia without hemiparesis often reflecting cerebral embolism, frequently from a cardiac source. Posterior reversible encephalopathy syndrome (PRES) describes a usually reversible neurologic syndrome with a variety of presenting symptoms from headache, altered mental status, seizures, vomiting, diminished spontaneity and speech, abnormalities of visual perception and visual loss. We report a patient presenting with elevated blood pressure, CT characteristics of PRES but a highly circumscribed neurologic syndrome (Wernicke's Aphasia without hemiparesis) suggestive of a cardioembolic stroke affecting the left MCA territory. That is, PRES mimicked a focal stroke syndrome. The importance of recognizing this possibility is that his deficits resolved with blood pressure control, while other treatments, such as intensifying his anticoagulation would have been inappropriate. In addition, allowing his blood pressure to remain elevated as is often done in the setting of an acute stroke might have perpetuated the underlying pathophysiology of PRES leading to a worse clinical outcome. For this reason PRES needs to be recognized quickly and treated appropriately.

Improved quantitation and reproducibility in multi-PET/CT lung studies by combining CT information.

PubMed

Holman, Beverley F; Cuplov, Vesna; Millner, Lynn; Endozo, Raymond; Maher, Toby M; Groves, Ashley M; Hutton, Brian F; Thielemans, Kris

2018-06-05

Matched attenuation maps are vital for obtaining accurate and reproducible kinetic and static parameter estimates from PET data. With increased interest in PET/CT imaging of diffuse lung diseases for assessing disease progression and treatment effectiveness, understanding the extent of the effect of respiratory motion and establishing methods for correction are becoming more important. In a previous study, we have shown that using the wrong attenuation map leads to large errors due to density mismatches in the lung, especially in dynamic PET scans. Here, we extend this work to the case where the study is sub-divided into several scans, e.g. for patient comfort, each with its own CT (cine-CT and 'snap shot' CT). A method to combine multi-CT information into a combined-CT has then been developed, which averages the CT information from each study section to produce composite CT images with the lung density more representative of that in the PET data. This combined-CT was applied to nine patients with idiopathic pulmonary fibrosis, imaged with dynamic 18 F-FDG PET/CT to determine the improvement in the precision of the parameter estimates. Using XCAT simulations, errors in the influx rate constant were found to be as high as 60% in multi-PET/CT studies. Analysis of patient data identified displacements between study sections in the time activity curves, which led to an average standard error in the estimates of the influx rate constant of 53% with conventional methods. This reduced to within 5% after use of combined-CTs for attenuation correction of the study sections. Use of combined-CTs to reconstruct the sections of a multi-PET/CT study, as opposed to using the individually acquired CTs at each study stage, produces more precise parameter estimates and may improve discrimination between diseased and normal lung.

Role of (68)Ga-DOTATATE PET/CT in patients with multiple endocrine neoplasia type 1 (MEN1).

PubMed

Lastoria, Secondo; Marciello, Francesca; Faggiano, Antongiulio; Aloj, Luigi; Caracò, Corradina; Aurilio, Michela; D'Ambrosio, Laura; Di Gennaro, Francesca; Ramundo, Valeria; Camera, Luigi; De Luca, Leonardo; Fonti, Rosa; Napolitano, Vincenzo; Colao, Annamaria

2016-06-01

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome predisposing to many endocrine and neuroendocrine tumors (NET). Conventional imaging (CI) cannot provide satisfactory results for all the different types of MEN1-related tumors. Objective of this prospective observational study was to evaluate the role of (68)Ga-DOTATATE PET/CT in MEN1 compared to CI. Diagnostic performance of (68)Ga-DOTATATE PET/CT for the detection of NET was evaluated as well as the prognostic role of SUVmax. Eighteen patients with genetically confirmed MEN1 were evaluated by (68)Ga-DOTATATE PET/CT, endoscopic ultrasounds, multidetector-row computed tomography, magnetic resonance imaging, and hormone/markers serum measurements. Four MEN1-related tumor sites (pancreas, pituitary, parathyroids, adrenals) were considered. Sensitivity and specificity of (68)Ga-DOTATATE PET/CT for the detection of NET were calculated. There was (68)Ga-DOTATATE PET/CT uptake in 11/11 patients with pancreatic lesions, in 9/12 with pituitary adenoma, in 5/15 with parathyroid enlargements, and in 5/7 with adrenal lesions. (68)Ga-DOTATATE PET/CT showed sensitivity and specificity of 100 and 100 % in pancreas, 75 and 83 % in pituitary, 28 and 100 % in parathyroids, and 62.5 and 100 % in adrenals, respectively. Compared with CI, no significant difference in sensitivity for pancreas, pituitary, and adrenals was found, while CI had a better sensitivity for parathyroids (p = 0.002). On the ROC analysis, progression of pancreatic lesions was significantly associated to SUVmax <12.3 (p < 0.05). (68)Ga-DOTATATE PET/CT is greatly helpful in the work-up of MEN1 providing a panoramic view of MEN1-related lesions. There is also a prognostic role of (68)Ga-PET in patients with MEN1-pancreatic lesions.

Molecular imaging of malignant tumor metabolism: whole-body image fusion of DWI/CT vs. PET/CT.

PubMed

Reiner, Caecilia S; Fischer, Michael A; Hany, Thomas; Stolzmann, Paul; Nanz, Daniel; Donati, Olivio F; Weishaupt, Dominik; von Schulthess, Gustav K; Scheffel, Hans

2011-08-01

To prospectively investigate the technical feasibility and performance of image fusion for whole-body diffusion-weighted imaging (wbDWI) and computed tomography (CT) to detect metastases using hybrid positron emission tomography/computed tomography (PET/CT) as reference standard. Fifty-two patients (60 ± 14 years; 18 women) with different malignant tumor disease examined by PET/CT for clinical reasons consented to undergo additional wbDWI at 1.5 Tesla. WbDWI was performed using a diffusion-weighted single-shot echo-planar imaging during free breathing. Images at b = 0 s/mm(2) and b = 700 s/mm(2) were acquired and apparent diffusion coefficient (ADC) maps were generated. Image fusion of wbDWI and CT (from PET/CT scan) was performed yielding for wbDWI/CT fused image data. One radiologist rated the success of image fusion and diagnostic image quality. The presence or absence of metastases on wbDWI/CT fused images was evaluated together with the separate wbDWI and CT images by two different, independent radiologists blinded to results from PET/CT. Detection rate and positive predictive values for diagnosing metastases was calculated. PET/CT examinations were used as reference standard. PET/CT identified 305 malignant lesions in 39 of 52 (75%) patients. WbDWI/CT image fusion was technically successful and yielded diagnostic image quality in 73% and 92% of patients, respectively. Interobserver agreement for the evaluation of wbDWI/CT images was κ = 0.78. WbDWI/CT identified 270 metastases in 43 of 52 (83%) patients. Overall detection rate and positive predictive value of wbDWI/CT was 89% (95% CI, 0.85-0.92) and 94% (95% CI, 0.92-0.97), respectively. WbDWI/CT image fusion is technically feasible in a clinical setting and allows the diagnostic assessment of metastatic tumor disease detecting nine of 10 lesions as compared with PET/CT. Copyright © 2011 AUR. Published by Elsevier Inc. All rights reserved.

Detection of skeletal muscle metastasis: torso FDG PET-CT versus contrast-enhanced chest or abdomen CT.

PubMed

So, Young; Yi, Jeong Geun; Song, Inyoung; Lee, Won Woo; Chung, Hyun Woo; Park, Jeong Hee; Moon, Sung Gyu

2015-07-01

Skeletal muscle metastasis (SMM) in cancer patients has not been sufficiently evaluated regarding prevalence and proper method of detection. To determine the prevalence of SMM and compare the diagnostic competencies for SMM of torso F-18 fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT) and contrast-enhanced chest or abdomen CT. We investigated 18,225 PET-CT studies of 6359 cancer patients performed from 2005 to 2012. The PET-CT studies describing potential SMM were retrieved and the corresponding medical records were reviewed. The gold standard for SMM was histopathologically-proven SMM or imaging study-based disease progression. The detectability of SMM was compared between PET-CT and contrast-enhanced CT. Twenty-six patients had 84 SMM lesions, representing a SMM prevalence of 0.41%. Lung cancer was the most common SMM-associated malignancy (54%) and the gluteal/pelvic girdle muscle was the most frequently involved SMM site (37%). All 84 SMM lesions were visualized on PET-CT (100%). Of these PET-CT positive 84 SMM lesions, 51 lesions were in the CT field of view (FOV) (61%), whereas 33 lesions were out of the CT FOV (39%). Among these 51 lesions, 17 lesions showed rim-enhancing nodules/masses (33%), eight lesions showed homogeneously enhancing nodules (16%), three lesions showed heterogeneously enhancing nodules (6%), and 23 SMM lesions (45%) were non-diagnostic by CT. All 51 SMM lesions within CT FOV were detected on PET-CT (100%), whereas only 28 were visualized on CT (54.9%), resulting in a significant difference (P < 0.005). On average, 2.6 more organs with concomitant metastases were found when SMM was revealed by PET-CT. The prevalence of SMM was as low as 0.41% in the current large cohort of cancer patients. Torso PET-CT was a more competent modality than contrast-enhanced CT in the detection of SMM. © The Foundation Acta Radiologica 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

[Superior vena cava syndrome--clinical aspects, etiology and case reports].

PubMed

Serdarevic, M; Löhr, E; Reidemeister, J C

1984-06-01

The so-called superior-Cava Syndrome is caused by obstructions by centrally localized tumors by thrombosis or by inflammations of the mediastinum. In cases of tumorous infiltration a graft can be inserted. The different phenomena of thrombosis caused by nutritial catheters and pace makers are of clinical importance. Acute thrombosis of the brachio-cervical veins and the Vena Cava can be treated successfully by means of thrombolysis. Besides CT bilateral brachial phlebography communicates optimal information concerning localization of vascular obstruction and collateral circuits.

Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.

PubMed

Zhou, Qi; Lenger, Chaeli; Smith, Richard; Kimberling, William J; Ye, Ming; Lehmann, Ordan; MacDonald, Ian

2012-01-01

To identify the genetic defect in a Hutterite population from northern Alberta with Usher syndrome type I. Complete ophthalmic examinations were conducted on two boys and two girls from two related Hutterite families diagnosed with Usher syndrome type I. DNA from patients and their parents was first evaluated for a mutation in exon 10 of the protocadherin-related 15 (PCDH15) gene (c.1471delG), previously reported in southern Alberta Hutterite patients with Usher syndrome (USH1F). Single nucleotide polymorphic linkage analysis was then used to confirm another locus, and DNA was analyzed with the Usher Chip v4.0 platform. Severe hearing impairment, unintelligible speech, and retinitis pigmentosa with varying degrees of visual acuity and visual field loss established a clinical diagnosis of Usher syndrome type I. The patients did not carry the exon 10 mutation in the PCDH15 gene; however, with microarray analysis, a previously reported mutation (c.52C>T; p.Q18X) in the myosin VIIA (MYO7A) gene was found in the homozygous state in the affected siblings. The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher syndrome type I.

Detection of osseous metastasis by 18F-NaF/18F-FDG PET/CT versus CT alone.

PubMed

Sampath, Srinath C; Sampath, Srihari C; Mosci, Camila; Lutz, Amelie M; Willmann, Juergen K; Mittra, Erik S; Gambhir, Sanjiv S; Iagaru, Andrei

2015-03-01

Sodium fluoride PET (18F-NaF) has recently reemerged as a valuable method for detection of osseous metastasis, with recent work highlighting the potential of coadministered 18F-NaF and 18F-FDG PET/CT in a single combined imaging examination. We further examined the potential of such combined examinations by comparing dual tracer 18F-NaF18/F-FDG PET/CT with CT alone for detection of osseous metastasis. Seventy-five participants with biopsy-proven malignancy were consecutively enrolled from a single center and underwent combined 18F-NaF/18F-FDG PET/CT and diagnostic CT scans. PET/CT as well as CT only images were reviewed in blinded fashion and compared with the results of clinical, imaging, or histological follow-up as a truth standard. Sensitivity of the combined 18F-NaF/18F-FDG PET/CT was higher than that of CT alone (97.4% vs 66.7%). CT and 18F-NaF/18F-FDG PET/CT were concordant in 73% of studies. Of 20 discordant cases, 18F-NaF/18F-FDG PET/CT was correct in 19 (95%). Three cases were interpreted concordantly but incorrectly, and all 3 were false positives. A single case of osseous metastasis was detected by CT alone, but not by 18F-NaF/18F-FDG PET/CT. Combined 18F-NaF/18F-FDG PET/CT outperforms CT alone and is highly sensitive and specific for detection of osseous metastases. The concordantly interpreted false-positive cases demonstrate the difficulty of distinguishing degenerative from malignant disease, whereas the single case of metastasis seen on CT but not PET highlights the need for careful review of CT images in multimodality studies.

Toward quantifying the composition of soft tissues by spectral CT with Medipix3.

PubMed

Ronaldson, J Paul; Zainon, Rafidah; Scott, Nicola Jean Agnes; Gieseg, Steven Paul; Butler, Anthony P; Butler, Philip H; Anderson, Nigel G

2012-11-01

To determine the potential of spectral computed tomography (CT) with Medipix3 for quantifying fat, calcium, and iron in soft tissues within small animal models and surgical specimens of diseases such as fatty liver (metabolic syndrome) and unstable atherosclerosis. The spectroscopic method was applied to tomographic data acquired using a micro-CT system incorporating a Medipix3 detector array with silicon sensor layer and microfocus x-ray tube operating at 50 kVp. A 10 mm diameter perspex phantom containing a fat surrogate (sunflower oil) and aqueous solutions of ferric nitrate, calcium chloride, and iodine was imaged with multiple energy bins. The authors used the spectroscopic characteristics of the CT number to establish a basis for the decomposition of soft tissue components. The potential of the method of constrained least squares for quantifying different sets of materials was evaluated in terms of information entropy and degrees of freedom, with and without the use of a volume conservation constraint. The measurement performance was evaluated quantitatively using atheroma and mouse equivalent phantoms. Finally the decomposition method was assessed qualitatively using a euthanized mouse and an excised human atherosclerotic plaque. Spectral CT measurements of a phantom containing tissue surrogates confirmed the ability to distinguish these materials by the spectroscopic characteristics of their CT number. The assessment of performance potential in terms of information entropy and degrees of freedom indicated that certain sets of up to three materials could be decomposed by the method of constrained least squares. However, there was insufficient information within the data set to distinguish calcium from iron within soft tissues. The quantification of calcium concentration and fat mass fraction within atheroma and mouse equivalent phantoms by spectral CT correlated well with the nominal values (R(2) = 0.990 and R(2) = 0.985, respectively). In the euthanized

Preoperative evaluation of renal anatomy and renal masses with helical CT, 3D-CT and 3D-CT angiography.

PubMed

Toprak, Uğur; Erdoğan, Aysun; Gülbay, Mutlu; Karademir, Mehmet Alp; Paşaoğlu, Eşref; Akar, Okkeş Emrah

2005-03-01

The aim of this prospective study was to determine the efficacy of three-dimensional computed tomography (3D-CT) and three-dimensional computed tomographic angiography (3D-CTA) that were reconstructed by using the axial images of the multiphasic helical CT in the preoperative evaluation of renal masses and demonstration of renal anatomy. Twenty patients that were suspected of having renal masses upon initial physical examination and ultrasonographic evaluation were examined through multiphasic helical CT. Two authors executed CT evaluations. Axial images were first examined and then used to reconstruct 3D-CT and 3D- CTA images. Number, location and size of the renal masses and other findings were noted. Renal vascularization and relationships of the renal masses with the neighboring renal structures were further investigated with 3D-CT and 3D-CTA images. Out of 20 patients, 13 had histopathologically proven renal cell carcinoma. The diagnoses of the remaining seven patients were xanthogranulomatous pyelonephritis, abscess, simple cyst, infected cyst, angiomyolipoma, oncocytoma and arteriovenous fistula. In the renal cell carcinoma group, 3 patients had stage I, 7 patients had stage II, and 3 patients had stage III disease. Sizes of renal cell carcinoma masses were between 23 mm to 60 mm (mean, 36 mm). Vascular invasion was shown in 2 renal cell carcinoma patients. Collecting system invasion was identified in 11 of 13 renal cell patients. These radiologic findings were confirmed with surgical specimens. Three-dimensional CT and 3D-CTA are non-invasive, effective imaging techniques for the preoperative evaluation of renal masses.

SU-F-J-109: Generate Synthetic CT From Cone Beam CT for CBCT-Based Dose Calculation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wang, H; Barbee, D; Wang, W

Purpose: The use of CBCT for dose calculation is limited by its HU inaccuracy from increased scatter. This study presents a method to generate synthetic CT images from CBCT data by a probabilistic classification that may be robust to CBCT noise. The feasibility of using the synthetic CT for dose calculation is evaluated in IMRT for unilateral H&N cancer. Methods: In the training phase, a fuzzy c-means classification was performed on HU vectors (CBCT, CT) of planning CT and registered day-1 CBCT image pair. Using the resulting centroid CBCT and CT values for five classified “tissue” types, a synthetic CTmore » for a daily CBCT was created by classifying each CBCT voxel to obtain its probability belonging to each tissue class, then assigning a CT HU with a probability-weighted summation of the classes’ CT centroids. Two synthetic CTs from a CBCT were generated: s-CT using the centroids from classification of individual patient CBCT/CT data; s2-CT using the same centroids for all patients to investigate the applicability of group-based centroids. IMRT dose calculations for five patients were performed on the synthetic CTs and compared with CT-planning doses by dose-volume statistics. Results: DVH curves of PTVs and critical organs calculated on s-CT and s2-CT agree with those from planning-CT within 3%, while doses calculated with heterogeneity off or on raw CBCT show DVH differences up to 15%. The differences in PTV D95% and spinal cord max are 0.6±0.6% and 0.6±0.3% for s-CT, and 1.6±1.7% and 1.9±1.7% for s2-CT. Gamma analysis (2%/2mm) shows 97.5±1.6% and 97.6±1.6% pass rates for using s-CTs and s2-CTs compared with CT-based doses, respectively. Conclusion: CBCT-synthesized CTs using individual or group-based centroids resulted in dose calculations that are comparable to CT-planning dose for unilateral H&N cancer. The method may provide a tool for accurate dose calculation based on daily CBCT.« less

Restrictive allograft syndrome after lung transplantation: new radiological insights.

PubMed

Dubbeldam, Adriana; Barthels, Caroline; Coolen, Johan; Verschakelen, Johny A; Verleden, Stijn E; Vos, Robin; Verleden, Geert M; De Wever, Walter

2017-07-01

To describe the CT changes in patients with restrictive allograft syndrome (RAS) after lung transplantation, before and after clinical diagnosis. This retrospective study included 22 patients with clinical diagnosis of RAS. Diagnosis was based on a combination of forced expiratory volume (FEV1) decline (≥20 %) and total lung capacity (TLC) decline (≥10 %). All available CT scans after transplantation were analyzed for the appearance and evolution of lung abnormalities. In 14 patients, non-regressing nodules and reticulations predominantly affecting the upper lobes developed an average of 13.9 months prior to the diagnosis of RAS. Median graft survival after onset of non-regressing abnormalities was 33.5 months, with most patients in follow-up (9/14). In eight patients, a sudden appearance of diffuse consolidations mainly affecting both upper and lower lobes was seen an average of 2.8 months prior to the diagnosis of RAS. Median graft survival was 6.4 months after first onset of non-regressing abnormalities, with graft loss in most patients (6/8). RAS has been previously described as a homogenous group. However, our study shows two different groups of RAS-patients: one with slow progression and one with fast progression. The two groups show different onset and progression patterns of CT abnormalities. • RAS is the newest discovered form of chronic lung allograft dysfunction (CLAD). • RAS is not a homogenous group, as survival varies greatly between patients. • In this study, we see two different CT onset and progression patterns. • These two different CT patterns also correlate with a different survival rate.

Leg CT scan

MedlinePlus

CAT scan - leg; Computed axial tomography scan - leg; Computed tomography scan - leg; CT scan - leg ... CT scan makes detailed pictures of the body very quickly. The test may help look for: An abscess ...

Arm CT scan

MedlinePlus

CAT scan - arm; Computed axial tomography scan - arm; Computed tomography scan - arm; CT scan - arm ... Healing problems or scar tissue following surgery A CT scan may also be used to guide a surgeon ...

Heart CT scan

MedlinePlus

... Computed tomography scan - heart; Calcium scoring; Multi-detector CT scan - heart; Electron beam computed tomography - heart; Agatston ... table that slides into the center of the CT scanner. You will lie on your back with ...

CT scan (image)

MedlinePlus

CT stands for computerized tomography. In this procedure, a thin X-ray beam is rotated around the ... D image of a section through the body. CT scans are very detailed and provide excellent information ...

Head CT (image)

MedlinePlus

CT stands for computerized tomography. In this procedure, a thin X-ray beam is rotated around the ... D image of a section through the body. CT scans are very detailed and provide excellent information ...

Comparison of SPECT/CT, MRI and CT in diagnosis of skull base bone invasion in nasopharyngeal carcinoma.

PubMed

Zhang, Shu-xu; Han, Peng-hui; Zhang, Guo-qian; Wang, Rui-hao; Ge, Yong-bin; Ren, Zhi-gang; Li, Jian-sheng; Fu, Wen-hai

2014-01-01

Early detection of skull base invasion in nasopharyngeal carcinoma (NPC) is crucial for correct staging, assessing treatment response and contouring the tumor target in radiotherapy planning, as well as improving the patient's prognosis. To compare the diagnostic efficacy of single photon emission computed tomography/computed tomography (SPECT/CT) imaging, magnetic resonance imaging (MRI) and computed tomography (CT) for the detection of skull base invasion in NPC. Sixty untreated patients with histologically proven NPC underwent SPECT/CT imaging, contrast-enhanced MRI and CT. Of the 60 patients, 30 had skull base invasion confirmed by the final results of contrast-enhanced MRI, CT and six-month follow-up imaging (MRI and CT). The diagnostic efficacy of the three imaging modalities in detecting skull base invasion was evaluated. The rates of positive findings of skull base invasion for SPECT/CT, MRI and CT were 53.3%, 48.3% and 33.3%, respectively. The sensitivity, specificity and accuracy were 93.3%, 86.7% and 90.0% for SPECT/CT fusion imaging, 96.7%, 100.0% and 98.3% for contrast-enhanced MRI, and 66.7%, 100.0% and 83.3% for contrast-enhanced CT. MRI showed the best performance for the diagnosis of skull base invasion in nasopharyngeal carcinoma, followed closely by SPECT/CT. SPECT/CT had poorer specificity than that of both MRI and CT, while CT had the lowest sensitivity.

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

PubMed

Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

2017-10-02

Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

Spontaneous Coronary Artery Dissection in a Male Patient with Takayasu's Arteritis and Antiphospholipid Antibody Syndrome

PubMed Central

Gerede, Demet Menekşe; Yüksel, Bağdagül; Tutar, Eralp; Küçükşahin, Orhan; Uzun, Çağlar; Atasoy, Kayhan Çetin; Düzgün, Nurşen; Bengisun, Uğur

2013-01-01

We present a case of a 34-year-old male who presented to the emergency ward with fever and abdominal pain. The diagnosis of Takayasu's arteritis and also antiphospholipid syndrome was made during an imaging workup of deep-vein thrombosis. A spontaneous coronary artery dissection was revealed in coronary CT angiography requested for chest pain and dyspnea. The patient was treated medically and discharged on close followup. The concurrence of spontaneous coronary artery dissection with antiphospholipid syndrome and Takayasu's arteritis has not been reported in the previous literature. The possibility of a spontaneous coronary artery dissection should be considered in patients presenting with both diseases. PMID:23956914

Adenocarcinoma Prostate With Neuroendocrine Differentiation: Potential Utility of 18F-FDG PET/CT and 68Ga-DOTANOC PET/CT Over 68Ga-PSMA PET/CT.

PubMed

Parida, Girish Kumar; Tripathy, Sarthak; Datta Gupta, Shreya; Singhal, Abhinav; Kumar, Rakesh; Bal, Chandrasekhar; Shamim, Shamim Ahmed

2018-04-01

Ga-PSMA PET/CT is the upcoming imaging modality for staging, restaging and response assessment of prostate cancer. However, due to neuroendocrine differentiation in some of patients with prostate cancer, they express somatostatin receptors instead of prostate specific membrane antigen. This can be exploited and other modalities like Ga-DOTANOC PET/CT and F-FDG PET/CT should be used in such cases for guiding management. We hereby discuss a similar case of 67-year-old man of adenocarcinoma prostate with neuroendocrine differentiation, which shows the potential pitfall of Ga-PSMA PET/CT imaging and benefit of Ga-DOTANOC PET/CT and F-FDG PET/CT in such cases.

[Orbital apex syndrome of the aspergillus etiology--a case report].

PubMed

Fric, E; Rehák, M; Vlcková, I; Burval, S; Chrapek, O; Rehák, J

2007-04-01

The authors present a case report of a patient, in whom after a head injury the monolateral blindness occurred. Because of autoimmune thrombocytopeny the patient was treated with long-term corticosteroids. The clinical findings corresponded with the orbital apex syndrome. According to the results of the CT and MRI examinations, the sphenoidotomy was indicated, and the histological findings verified fragments of paranasal sinuses' aspergiloma. During the next course of the disease, despite antimycotic therapy, the progression of the aspergiloma in to the anterior cranial fossa occurred. Invasive sino-orbital aspergilosis, after the penetration of the infectious agent across the wall of the sinus, may cause the orbital apex syndrome with paralysis of all three cranial nerves innervating the extraocular muscles, sensoric defect in the area of the ophthalmic nerve and the involvement of the optic nerve.

High frequency of empty sella syndrome in children with growth hormone deficiency.

PubMed

Pocecco, M; de Campo, C; Marinoni, S; Tommasini, G; Basso, T; Muzzolini, C; Sacher, B

1989-02-01

Computer-assisted tomography (CT) with 2 mm axial sections and reconstructions was carried out in 31 children affected by GH deficiency (GHD): 18 with idiopathic complete isolated GHD, 3 with idiopathic partial isolated GHD, 2 with idiopathic panhypopituitarism, 4 with isolated acquired GHD and 4 with acquired panhypopituitarism. Density in the intrasellar area on CT corresponded to that of cerebrospinal fluid in 13/20 cases with idiopathic hypopituitarism and in 2/8 cases with acquired hypopituitarism. The overall incidence of primary empty sella syndrome (PESS) in the GH deficient patients studied was thus over 48%, while in children without endocrine dysfunction, it was only 5/213 (2.4%). It is concluded that PESS is more frequent in childhood than assumed until now and that it is frequently associated with GHD.

Expanding the mutation and clinical spectrum of Roberts syndrome.

PubMed

Afifi, Hanan H; Abdel-Salam, Ghada M H; Eid, Maha M; Tosson, Angie M S; Shousha, Wafaa Gh; Abdel Azeem, Amira A; Farag, Mona K; Mehrez, Mennat I; Gaber, Khaled R

2016-07-01

Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in ESCO2 gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the ESCO2 gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel ESCO2 mutation and expand the clinical spectrum of Roberts syndrome. © 2015 Japanese Teratology Society.

Ga-68 DOTATOC PET/CT-Guided Biopsy and Cryoablation with Autoradiography of Biopsy Specimen for Treatment of Tumor-Induced Osteomalacia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Maybody, Majid, E-mail: maybodym@mskcc.org; Grewal, Ravinder K.; Healey, John H.

2016-09-15

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by small benign tumors of mesenchymal origin also known as phosphaturic mesenchymal tumors mixed connective tissue variant. Excellent prognosis is expected with eradication of the culprit tumor. These small tumors are notoriously difficult to localize with conventional imaging studies; this often leads to an extensive work up and prolonged morbidity. We report a patient with clinical diagnosis of TIO whose culprit tumor was localized with Ga-68 DOTATOC PET/CT and MRI. Biopsy and cryoablation were performed under Ga-68 DOTATOC PET/CT guidance. Autoradiography of the biopsy specimen was performed and showed in situmore » correlation between Ga-68 DOTATOC uptake and histopathology with millimeter resolution.« less

Diagnosing Early Ischemic Changes with the Latest-Generation Flat Detector CT: A Comparative Study with Multidetector CT.

PubMed

Maier, I L; Leyhe, J R; Tsogkas, I; Behme, D; Schregel, K; Knauth, M; Schnieder, M; Liman, J; Psychogios, M-N

2018-05-01

One-stop management of mechanical thrombectomy-eligible patients with large-vessel occlusion represents an innovative approach in acute stroke treatment. This approach reduces door-to-reperfusion times by omitting multidetector CT, using flat detector CT as pre-mechanical thrombectomy imaging. The purpose of this study was to compare the diagnostic performance of the latest-generation flat detector CT with multidetector CT. Prospectively derived data from patients with ischemic stroke with large-vessel occlusion and mechanical thrombectomy were analyzed in this monocentric study. All included patients underwent multidetector CT before referral to our comprehensive stroke center and flat detector CT in the angiography suite before mechanical thrombectomy. Diagnosis of early ischemic signs, quantified by the ASPECTS, was compared between modalities using cross tables, the Pearson correlation, and Bland-Altman plots. The predictive value of multidetector CT- and flat detector CT-derived ASPECTS for functional outcome was investigated using area under the receiver operating characteristic curve analysis. Of 25 patients, 24 (96%) had flat detector CT with sufficient diagnostic quality. Median multidetector CT and flat detector CT ASPECTSs were 7 (interquartile range, 5.5-9 and 4.25-8, respectively) with a mean period of 143.6 ± 49.5 minutes between both modalities. The overall sensitivity was 85.1% and specificity was 83.1% for flat detector CT ASPECTS compared with multidetector CT ASPECTS as the reference technique. Multidetector CT and flat detector CT ASPECTS were strongly correlated ( r = 0.849, P < .001) and moderately predicted functional outcome (area under the receiver operating characteristic curve, 0.738; P = .007 and .715; P = .069, respectively). Determination of ASPECTS on flat detector CT is feasible, showing no significant difference compared with multidetector CT ASPECTS and a similar predictive value for functional outcome. Our findings support the

CT biliary cystoscopy of gallbladder polyps

PubMed Central

Lou, Ming-Wu; Hu, Wei-Dong; Fan, Yi; Chen, Jin-Hua; E, Zhan-Sen; Yang, Guang-Fu

2004-01-01

AIM: CT virtual endoscopy has been used in the study of various organs of body including the biliary tract, however, CT virtual endoseopy in diagnosis of gallbladder polyps has not yet been reported. This study was to evaluate the diagnostic value of CT virtual endoscopy in polyps of the gallbladder. METHODS: Thirty-two cases of gallbladder polyps were examined by CT virtual endoscopy, ultrasound, CT scan with oral biliary contrast separately and confirmed by operation and pathology. CT biliary cystoscopic findings were analyzed and compared with those of ultrasound and CT scan with oral biliary contrast, and evaluated in comparison with operative and pathologic findings in all cases. RESULTS: The detection rate of gallbladder polyps was 93.8%(90/96), 96.9%(93/96) and 79.2%(76/96) for CT cystoscopy, ultrasound and CT scan with oral contrast, respectively. CT biliary cystoscopy corresponded well with ultrasound as well as pathology in demonstrating the location, size and configuration of polyps. CT endoscopy was superior to ultrasound in viewing the polyps in a more precise way, 3 dimensionally from any angle in space, and showing the surface in details. CT biliary cystoscopy was also superior to CT scan with oral biliary contrast in terms of observation of the base of polyps for the presence of a pedicle, detection rates as well as image quality. The smallest polyp detected by CT biliary cystoscopy was measured 1.5 mm×2.2 mm×2.5 mm. CONCLUSION: CT biliary cystoscopy is a non-invasive and accurate technique for diagnosis and management of gallbladder polyps. PMID:15069726

Gonadotrophin abnormalities in an infant with Lowe syndrome.

PubMed

Warner, Bronwen E; Inward, Carol D; Burren, Christine P

2017-01-01

This case, presenting with bilateral impalpable testes, illustrates the relevance of a broad differential disorders of sex development case management. It provides new insights on hypothalamic-pituitary-gonadal (HPG) axis and testicular function abnormalities in the multisystem disorder of Lowe syndrome. Lowe syndrome, also known as oculocerebrorenal syndrome, is a rare disorder characterised by eye abnormalities, central nervous system involvement and proximal renal tubular acidosis. There are a handful of reports of pubertal delay, infertility and cryptorchidism in Lowe syndrome. Biochemistry aged 72 h: testosterone 6.4 nmol/L, LH <0.5 IU/L and FSH <0.5 IU/L. Gonadotropin-releasing hormone stimulation test identified significantly raised baseline LH = 45.4 IU/L (contrasts with earlier undetectable LH), with a 20% increase on stimulation, while baseline FSH = 4.3 IU/L with no increase on stimulation. Day 14 HCG stimulation test produced an acceptable 50% increase in testosterone. The constellation of further abnormalities suggested Lowe syndrome: hypotonia, bilateral cataracts (surgical extraction and intraocular lens implantation) and renal tubular acidosis (microscopic haematuria, hypercalciuria, proteinuria, generalised aminoaciduria, hypophosphataemia and metabolic acidosis). DNA sequencing identified de novo hemizygous frameshift mutation OCRL c.2409_2410delCT in exon 22. Interpretation of initial and repeat GnRH and HCG testing indicates the likelihood of testicular failure. Partial testicular descent occurred but left orchidopexy was required. Improving long-term gonadal function in Lowe syndrome assumes increased importance for current cohorts as advances in renal replacement therapy have greatly improved life expectancy. Noting HPG axis abnormalities in Lowe syndrome in infancy can identify cases requiring increased surveillance of pubertal progress for earlier detection and management. Clinical endocrine problems in Lowe syndrome has

[Imaging manifestations and pathologic basis for hepatic capsular retraction syndrome caused by benign and malignant liver tumors].

PubMed

Ou, Youkuan; Xiao, Enhua; Shang, Quanliang; Chen, Juan

2015-10-01

To investigate the imaging manifestations of CT, MRI and pathological basis for hepatic capsular retraction syndrome caused by benign and malignant liver tumors.
 CT or MRI images and pathological features for hepatic capsular retraction syndrome were retrospectively analyzed in 50 patients with benign and malignant liver tumors. Picture archive and communication system (PACS) was used to observe and compare the morphology, size, width, depth, edge of the capsular retraction and the status of liquid under the liver capsule. The structure, differentiation and proliferation of the tumor were analyzed under the microscope.
 There were malignant liver tumors in 44 patients and benign tumor in 6 patients. The smooth or rough for the edge of capsular retraction was significant difference between the benign tumors and the malignant tumors with three differentiated grades (all P<0.05). There were significant difference in the width and depth for capsule retraction with different amount of fibrous tissues (all P<0.05). The width and depth of capsule retraction were positively correlated to the size of the tumors (r=0.557, 0.309 respectively, both P<0.05).
 Benign and malignant hepatic tumors may appear capsule retraction syndrome, but there are morphological differences between them. The differences are closely related with the lesion size, differentiated degree of tumor and fibrous tissue proliferation.

SedCT: MATLAB™ tools for standardized and quantitative processing of sediment core computed tomography (CT) data collected using a medical CT scanner

NASA Astrophysics Data System (ADS)

Reilly, B. T.; Stoner, J. S.; Wiest, J.

2017-08-01

Computed tomography (CT) of sediment cores allows for high-resolution images, three-dimensional volumes, and down core profiles. These quantitative data are generated through the attenuation of X-rays, which are sensitive to sediment density and atomic number, and are stored in pixels as relative gray scale values or Hounsfield units (HU). We present a suite of MATLAB™ tools specifically designed for routine sediment core analysis as a means to standardize and better quantify the products of CT data collected on medical CT scanners. SedCT uses a graphical interface to process Digital Imaging and Communications in Medicine (DICOM) files, stitch overlapping scanned intervals, and create down core HU profiles in a manner robust to normal coring imperfections. Utilizing a random sampling technique, SedCT reduces data size and allows for quick processing on typical laptop computers. SedCTimage uses a graphical interface to create quality tiff files of CT slices that are scaled to a user-defined HU range, preserving the quantitative nature of CT images and easily allowing for comparison between sediment cores with different HU means and variance. These tools are presented along with examples from lacustrine and marine sediment cores to highlight the robustness and quantitative nature of this method.

68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad.

PubMed

Derlin, Thorsten; Hartung, Dagmar; Hueper, Katja

2017-12-01

Carney triad is a very rare syndrome characterized by the synchronous or metachronous occurrence of gastrointestinal stromal tumors, pulmonary chondroma, and extra-adrenal paraganglioma. We present the case of a 36-year-old woman with complete Carney triad who underwent a Ga-DOTA-TATE PET/CT scan for restaging of metastasizing extra-adrenal paraganglioma and for evaluation of targeted radionuclide therapy potential. On the Ga-DOTA-TATE PET scan, increased tracer accumulation was observed in paraganglioma metastases. This case highlights the usefulness of Ga-DOTA-TATE PET/CT for restaging of metastasizing paraganglioma in Carney triad and the option of targeted radionuclide therapy in this entity.

The silent mutation MLH1 c.543C>T resulting in aberrant splicing can cause Lynch syndrome: a case report.

PubMed

Yamaguchi, Tatsuro; Wakatsuki, Tomokazu; Kikuchi, Mari; Horiguchi, Shin-Ichiro; Akagi, Kiwamu

2017-06-01

The proband was a 67-year-old man with transverse and sigmoid colon cancer. Microsatellite instability analysis revealed a high frequency of microsatellite instability, and immunohistochemical staining showed the absence of both MLH1 and PMS2 proteins in the sigmoid colon cancer tissue specimens from the patient. DNA sequencing revealed a nucleotide substitution c.543C>T in MLH1, but this variant did not substitute an amino acid. The MLH1 c.543C>T variant was located 3 bases upstream from the end of exon 6 and created a new splice donor site 4 bases upstream from the end of exon 6. Consequently, the last 4 bases of exon 6 were deleted and frameshift occurred. Thus, the MLH1 c.543C>T silent mutation is considered 'pathogenic'. © The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Estimation of skull table thickness with clinical CT and validation with microCT.

PubMed

Lillie, Elizabeth M; Urban, Jillian E; Weaver, Ashley A; Powers, Alexander K; Stitzel, Joel D

2015-01-01

Brain injuries resulting from motor vehicle crashes (MVC) are extremely common yet the details of the mechanism of injury remain to be well characterized. Skull deformation is believed to be a contributing factor to some types of traumatic brain injury (TBI). Understanding biomechanical contributors to skull deformation would provide further insight into the mechanism of head injury resulting from blunt trauma. In particular, skull thickness is thought be a very important factor governing deformation of the skull and its propensity for fracture. Current computed tomography (CT) technology is limited in its ability to accurately measure cortical thickness using standard techniques. A method to evaluate cortical thickness using cortical density measured from CT data has been developed previously. This effort validates this technique for measurement of skull table thickness in clinical head CT scans using two postmortem human specimens. Bone samples were harvested from the skulls of two cadavers and scanned with microCT to evaluate the accuracy of the estimated cortical thickness measured from clinical CT. Clinical scans were collected at 0.488 and 0.625 mm in plane resolution with 0.625 mm thickness. The overall cortical thickness error was determined to be 0.078 ± 0.58 mm for cortical samples thinner than 4 mm. It was determined that 91.3% of these differences fell within the scanner resolution. Color maps of clinical CT thickness estimations are comparable to color maps of microCT thickness measurements, indicating good quantitative agreement. These data confirm that the cortical density algorithm successfully estimates skull table thickness from clinical CT scans. The application of this technique to clinical CT scans enables evaluation of cortical thickness in population-based studies. © 2014 Anatomical Society.

Micro-CT characterization of human trabecular bone in osteogenesis imperfecta

NASA Astrophysics Data System (ADS)

Jameson, John; Albert, Carolyne; Smith, Peter; Molthen, Robert; Harris, Gerald

2011-03-01

Osteogenesis imperfecta (OI) is a genetic syndrome affecting collagen synthesis and assembly. Its symptoms vary widely but commonly include bone fragility, reduced stature, and bone deformity. Because of the small size and paucity of human specimens, there is a lack of biomechanical data for OI bone. Most literature has focused on histomorphometric analyses, which rely on assumptions to extrapolate 3-D properties. In this study, a micro-computed tomography (μCT) system was used to directly measure structural and mineral properties in pediatric OI bone collected during routine surgical procedures. Surface renderings suggested a poorly organized, plate-like orientation. Patients with a history of bone-augmenting drugs exhibited increased bone volume fraction (BV/TV), trabecular number (Tb.N), and connectivity density (Eu.Conn.D). The latter two parameters appeared to be related to OI severity. Structural results were consistently higher than those reported in a previous histomorphometric study, but these differences can be attributed to factors such as specimen collection site, drug therapy, and assumptions associated with histomorphometry. Mineral testing revealed strong correlations with several structural parameters, highlighting the importance of a dual approach in trabecular bone testing. This study reports some of the first quantitative μCT data of human OI bone, and it suggests compelling possibilities for the future of OI bone assessment.

Guillain-Barré Syndrome as First Presentation of Non-Hodgkin's Lymphoma.

PubMed

Ertiaei, Abolhassan; Ghajarzadeh, Mahsa; Javdan, Azizollah; Taffakhori, Abbas; Siroos, Bahaaddin; Esfandbod, Mohsen; Saberi, Hooshang

2016-07-01

We present a woman referred with underlying non-Hodgkin's lymphoma (NHL) masquerading clinically with Guillain-Barré syndrome (GBS) like syndrome. At first evaluation, chest CT-Scan along with brain and whole spine MRI were normal. Electrodiagnostic studies were in favor of acute generalized polyradiculoneuropathy. Laboratory evaluation revealed hypoglycorrhachia. She treated with plasmapheresis after two weeks; she was discharged from hospital, but neurological recovery was not complete. After 6 months, she came back with acute onset of weakness in lower limbs, back pain, fever and urinary incontinence. Pinprick and light touch complete sensory loss was found beneath umbilicus. Thoracic MRI with contrast revealed a dorsal epidural mass extending smoothly from T8 to T12 (10 cm) with spinal cord compression. She underwent urgent laminectomy for spinal cord decompression. Histological examination revealed small round cell tumor suggestive of malignant T-cell type lymphoma. In cases with Guillain-Barré syndrome presentation, systemic hematologic disorders such as non-Hodgkin's lymphoma should be considered as one of the differential diagnosis of underlying disease.

Multilayered complex network datasets for three supply chain network archetypes on an urban road grid.

PubMed

Viljoen, Nadia M; Joubert, Johan W

2018-02-01

This article presents the multilayered complex network formulation for three different supply chain network archetypes on an urban road grid and describes how 500 instances were randomly generated for each archetype. Both the supply chain network layer and the urban road network layer are directed unweighted networks. The shortest path set is calculated for each of the 1 500 experimental instances. The datasets are used to empirically explore the impact that the supply chain's dependence on the transport network has on its vulnerability in Viljoen and Joubert (2017) [1]. The datasets are publicly available on Mendeley (Joubert and Viljoen, 2017) [2].

Pleural effusion in patients with acute lung injury: a CT scan study.

PubMed

Chiumello, Davide; Marino, Antonella; Cressoni, Massimo; Mietto, Cristina; Berto, Virna; Gallazzi, Elisabetta; Chiurazzi, Chiara; Lazzerini, Marco; Cadringher, Paolo; Quintel, Michael; Gattinoni, Luciano

2013-04-01

Pleural effusion is a frequent finding in patients with acute respiratory distress syndrome. To assess the effects of pleural effusion in patients with acute lung injury on lung volume, respiratory mechanics, gas exchange, lung recruitability, and response to positive end-expiratory pressure. A total of 129 acute lung injury or acute respiratory distress syndrome patients, 68 analyzed retrospectively and 61 prospectively, studied at two University Hospitals. Whole-lung CT was performed during two breath-holding pressures (5 and 45 cm H2O). Two levels of positive end-expiratory pressure (5 and 15 cm H2O) were randomly applied. Pleural effusion volume was determined on each CT scan section; respiratory system mechanics, gas exchange, and hemodynamics were measured at 5 and 15 cm H2O positive end-expiratory pressure. In 60 patients, elastances of lung and chest wall were computed, and lung and chest wall displacements were estimated. Patients were divided into higher and lower pleural effusion groups according to the median value (287 mL). Patients with higher pleural effusion were older (62±16 yr vs. 54±17 yr, p<0.01) with a lower minute ventilation (8.8±2.2 L/min vs. 10.1±2.9 L/min, p<0.01) and respiratory rate (16±5 bpm vs. 19±6 bpm, p<0.01) than those with lower pleural effusion. Both at 5 and 15 cm H2O of positive end-expiratory pressure PaO2/FIO2, respiratory system elastance, lung weight, normally aerated tissue, collapsed tissue, and lung and chest wall elastances were similar between the two groups. The thoracic cage expansion (405±172 mL vs. 80±87 mL, p<0.0001, for higher pleural effusion group vs. lower pleural effusion group) was greater than the estimated lung compression (178±124 mL vs. 23±29 mL, p<0.0001 for higher pleural effusion group vs. lower pleural effusion group, respectively). Pleural effusion in acute lung injury or acute respiratory distress syndrome patients is of modest entity and leads to a greater chest wall expansion than lung

Added value of SPECT/spiral CT versus SPECT or CT alone in diagnosing solitary skeletal lesions.

PubMed

Zhang, Yiqiu; Li, Beilei; Shi, Hongcheng; Yu, Haojun; Gu, Yushen; Xiu, Yan

2017-08-14

The aim of this study was to investigate the added value of SPECT/spiral CT versus SPECT or CT alone in the differential diagnosis of solitary skeletal lesions. This was a retrospective study on a total of 69 patients who had a solitary skeletal "hot spot" that could not be definitively diagnosed using planar scintigraphy. Thus, SPECT/spiral CT was performed on the indeterminate lesions. SPECT, CT and SPECT/spiral CT images were independently interpreted by two experienced doctors who have both identification of CT and nuclear medicine. Each lesion was graded on a 4-point diagnostic scale (1: benign, 2: likely benign, 3: likely malignant, 4: malignant). The final diagnosis of each lesion was based on pathological confirmation after surgery within 3 weeks of the bone scan. Final diagnoses based on the pathological results revealed that 43 of the 69 patients were diagnosed with malignancy, and the remaining 26 patients were diagnosed as having benign lesions. For SPECT and CT scans, both of the reviewers rated 55.1 % (38/69) and 37.7 % (26/69) of lesions as equivocal, with the help of SPECT/CT, 33.3 % (23/69) of lesions were rated as equivocal. The diagnostic accuracies of SPECT, CT alone and SPECT/CT were 66.7 % (46/69) ,82.6 % (57/69) and 85.5 %(59/69), respectively. The kappa scores for the degree of agreement between SPECT, CT alone or SPECT/CT with pathological results were 0.185 (p = 0.054) , 0.612 (p < 0.001) and 0.671 (p < 0.001), respectively. Compared with SPECT or imaging alone, SPECT/spiral CT imaging was more accurate and valuable in the differential diagnosis of solitary skeletal lesions and resulted in significantly fewer equivocal findings.

CT angiography - abdomen and pelvis

MedlinePlus

... this page: //medlineplus.gov/ency/article/007674.htm CT angiography - abdomen and pelvis To use the sharing features on this page, please enable JavaScript. CT angiography combines a CT scan with the injection ...

CT angiography - arms and legs

MedlinePlus

... this page: //medlineplus.gov/ency/article/007675.htm CT angiography - arms and legs To use the sharing features on this page, please enable JavaScript. CT angiography combines a CT scan with the injection ...

CT angiography - head and neck

MedlinePlus

... this page: //medlineplus.gov/ency/article/007677.htm CT angiography - head and neck To use the sharing features on this page, please enable JavaScript. CT angiography (CTA) combines a CT scan with the ...

The influence of CT based attenuation correction on PET/CT registration: an evaluation study

NASA Astrophysics Data System (ADS)

Yaniv, Ziv; Wong, Kenneth H.; Banovac, Filip; Levy, Elliot; Cleary, Kevin

2007-03-01

We are currently developing a PET/CT based navigation system for guidance of biopsies and radiofrequency ablation (RFA) of early stage hepatic tumors. For these procedures, combined PET/CT data can potentially improve current interventions. The diagnostic efficacy of biopsies can potentially be improved by accurately targeting the region within the tumor that exhibits the highest metabolic activity. For RFA procedures the system can potentially enable treatment of early stage tumors, targeting tumors before structural abnormalities are clearly visible on CT. In both cases target definition is based on the metabolic data (PET), and navigation is based on the spatial data (CT), making the system highly dependent upon accurate spatial alignment between these data sets. In our institute all clinical data sets include three image volumes: one CT, and two PET volumes, with and without CT-based attenuation correction. This paper studies the effect of the CT-based attenuation correction on the registration process. From comparing the pairs of registrations from five data sets we observe that the point motion magnitude difference between registrations is on the same scale as the point motion magnitude in each one of the registrations, and that visual inspection cannot identify this discrepancy. We conclude that using non-rigid registration to align the PET and CT data sets is too variable, and most likely does not provide sufficient accuracy for interventional procedures.

Imaging of acute mesenteric ischemia using multidetector CT and CT angiography in a porcine model.

PubMed

Rosow, David E; Sahani, Dushyant; Strobel, Oliver; Kalva, Sanjeeva; Mino-Kenudson, Mari; Holalkere, Nagaraj S; Alsfasser, Guido; Saini, Sanjay; Lee, Susanna I; Mueller, Peter R; Fernández-del Castillo, Carlos; Warshaw, Andrew L; Thayer, Sarah P

2005-12-01

Acute mesenteric ischemia, a frequently lethal disease, requires prompt diagnosis and intervention for favorable clinical outcomes. This goal remains elusive due, in part, to lack of a noninvasive and accurate imaging study. Traditional angiography is the diagnostic gold standard but is invasive and costly. Computed tomography (CT) is readily available and noninvasive but has shown variable success in diagnosing this disease. The faster scanning time of multidetector row CT (M.D.CT) greatly facilitates the use of CT angiography (CTA) in the clinical setting. We sought to determine whether M.D.CT-CTA could accurately demonstrate vascular anatomy and capture the earliest stages of mesenteric ischemia in a porcine model. Pigs underwent embolization of branches of the superior mesenteric artery, then imaging by M.D.CT-CTA with three-dimensional reconstruction protocols. After scanning, diseased bowel segments were surgically resected and pathologically examined. Multidetector row CT and CT angiography reliably defined normal and occluded mesenteric vessels in the pig. It detected early changes of ischemia including poor arterial enhancement and venous dilatation, which were seen in all ischemic animals. The radiographic findings--compared with pathologic diagnoses-- predicted ischemia, with a positive predictive value of 92%. These results indicate that M.D.CT-CTA holds great promise for the early detection necessary for successful treatment of acute mesenteric ischemia.

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.

PubMed

Li, Mindy H; Eberhard, Moriah; Mudd, Pamela; Javia, Luv; Zimmerman, Robert; Khalek, Nahla; Zackai, Elaine H

2015-03-01

Pallister-Hall syndrome is a complex malformation syndrome characterized by a wide range of anomalies including hypothalamic hamartoma, polydactyly, bifid epiglottis, and genitourinary abnormalities. It is usually caused by truncating frameshift/nonsense and splicing mutations in the middle third of GLI3. The clinical course ranges from mild to lethal in the neonatal period. We present the first patient with Pallister-Hall syndrome reported with total colonic aganglionosis, a rare form of Hirschsprung disease with poor long-term outcome. The patient also had an imperforate anus, which is the third individual with Pallister-Hall syndrome reported with both Hirschsprung disease and an imperforate anus. Molecular testing via amniocentesis showed an apparently de novo novel nonsense mutation c.2641 C>T (p.Gln881*). His overall medical course was difficult and was complicated by respiratory failure and pan-hypopituitarism. Invasive care was ultimately withdrawn, and the patient expired at three months of age. This patient's phenotype was complex with unusual gastrointestinal features ultimately leading to a unfavorable prognosis and outcome, highlighting the range of clinical severity in patients with Pallister-Hall syndrome. © 2015 Wiley Periodicals, Inc.

Giant pseudomeningocele causing urinary obstruction in a patient with Marfan syndrome.

PubMed

Stone, Jeremy G; Bergmann, Liisa L; Takamori, Ryan; Donovan, Daniel J

2015-07-01

Defective collagen biosynthesis in Marfan syndrome predisposes to dural defects such as dural ectasia, meningocele, and pseudomeningocele; thus, an increased index of suspicion for these conditions should be present in the clinical setting of Marfan syndrome. The authors describe a young woman with Marfan syndrome who was being treated with anticoagulants for a prosthetic heart valve and who presented with a spontaneous retroperitoneal hemorrhage requiring surgical evacuation. No CSF leak was encountered at surgery, but she developed progressively more severe positional headaches over the following year. She then experienced the sudden onset of acute urinary obstruction, at which time CT revealed a 17 × 15 × 13-cm presacral pseudomeningocele communicating with the thecal sac through a sacral bone defect. An anterior surgical approach was used for drainage of the pseudomeningocele as well as for primary closure of the dural defect with a bovine pericardial patch and autologous subcutaneous fat graft. After a short period of lumbar subarachnoid drainage of the CSF, the patient was able to resume normal activity without recurrent symptoms. To the authors' knowledge, such a pseudomeningocele in a patient with Marfan syndrome has been reported only twice, and this case features the largest pseudomeningocele to date. They also review the pertinent literature regarding presentation, diagnosis, and management of these lesions.

Diagnostic Performance of 11C-choline PET/CT and FDG PET/CT in Prostate Cancer.

PubMed

Kitajima, Kazuhiro; Yamamoto, Shingo; Odawara, Soichi; Kobayashi, Kaoru; Fujiwara, Masayuki; Kamikonya, Norihiko; Fukushima, Kazuhito; Nakanishi, Yukako; Hashimoto, Takahiko; Yamada, Yusuke; Suzuki, Toru; Kanematsu, Akihiro; Nojima, Michio; Yamakado, Koichiro

2018-06-01

We compared 11C-choline and FDG PET/CT scan findings for the staging and restaging of prostate cancer. Twenty Japanese prostate cancer patients underwent 11C-choline and FDG PET/CT before (n=5) or after (n=15) treatment. Using a five-point scale, we compared these scanning modalities regarding patient- and lesion-based diagnostic performance for local recurrence, untreated primary tumor, and lymph node and bony metastases. Of the 20 patients, documented local lesions, and node and bony metastases were present in 11 (55.0%), 9 (45.0%), and 13 (65.0%), respectively. The patient-based sensitivity/specificity/accuracy/area under the receiver-operating-characteristic curve (AUC) values for 11C-choline-PET/CT for diagnosing local lesions were 90.9% /100%/ 95.0% / 1.0, whereas those for FDG-PET/CT were 45.5% /100%/ 75.0% / 0.773. Those for 11C-choline-PET/CT for node metastasis were 88.9% /100%/ 95.0% / 0.944, and those for FDG-PET/CT were 44.4%/100%/75.0%/0.722. Those for 11C-choline-PET/CT for bone metastasis were 84.6%/100%/90.0%/0.951, and those for FDG-PET/CT were 76.9% /100%/ 85.0% / 0.962. The AUCs for local lesion and node metastasis differed significantly (p=0.0039, p=0.011, respectively). The lesion-based detection rates of 11C-choline compared to FDG PET/CT for local lesion, and node and bone metastases were 91.7% vs. 41.7%, 92.0% vs. 32.0%, and 94.8% vs. 83.0% (p=0.041, p=0.0030, p<0.0001), respectively. 11C-choline-PET/CT is more useful for the staging and restaging of prostate cancer than FDG-PET/CT in Japanese men.

[Accurate 3D free-form registration between fan-beam CT and cone-beam CT].

PubMed

Liang, Yueqiang; Xu, Hongbing; Li, Baosheng; Li, Hongsheng; Yang, Fujun

2012-06-01

Because the X-ray scatters, the CT numbers in cone-beam CT cannot exactly correspond to the electron densities. This, therefore, results in registration error when the intensity-based registration algorithm is used to register planning fan-beam CT and cone-beam CT. In order to reduce the registration error, we have developed an accurate gradient-based registration algorithm. The gradient-based deformable registration problem is described as a minimization of energy functional. Through the calculus of variations and Gauss-Seidel finite difference method, we derived the iterative formula of the deformable registration. The algorithm was implemented by GPU through OpenCL framework, with which the registration time was greatly reduced. Our experimental results showed that the proposed gradient-based registration algorithm could register more accurately the clinical cone-beam CT and fan-beam CT images compared with the intensity-based algorithm. The GPU-accelerated algorithm meets the real-time requirement in the online adaptive radiotherapy.

Artefacts of PET/CT images

PubMed Central

Pettinato, C; Nanni, C; Farsad, M; Castellucci, P; Sarnelli, A; Civollani, S; Franchi, R; Fanti, S; Marengo, M; Bergamini, C

2006-01-01

Positron emission tomography (PET) is a non-invasive imaging modality, which is clinically widely used both for diagnosis and accessing therapy response in oncology, cardiology and neurology. Fusing PET and CT images in a single dataset would be useful for physicians who could read the functional and the anatomical aspects of a disease in a single shot. The use of fusion software has been replaced in the last few years by integrated PET/CT systems, which combine a PET and a CT scanner in the same gantry. CT images have the double function to correct PET images for attenuation and can fuse with PET for a better visualization and localization of lesions. The use of CT for attenuation correction yields several advantages in terms of accuracy and patient comfort, but can also introduce several artefacts on PET-corrected images. PET/CT image artefacts are due primarily to metallic implants, respiratory motion, use of contrast media and image truncation. This paper reviews different types artefacts and their correction methods. PET/CT improves image quality and image accuracy. However, to avoid possible pitfalls the simultaneous display of both Computed Tomography Attenuation Corrected (CTAC) and non corrected PET images, side by side with CT images is strongly recommended. PMID:21614340

The infundibulo-tuberal syndrome caused by craniopharyngiomas: clinicopathological evidence from an historical French cohort (1705-1973).

PubMed

Castro-Dufourny, Inés; Carrasco, Rodrigo; Prieto, Ruth; Barrios, Laura; Pascual, José M

2015-10-01

Infundibulo-tuberal syndrome groups endocrine, metabolic and behavioral disturbances caused by lesions involving the upper neurohypophysis (median eminence) and adjacent basal hypothalamus (tuber cinereum). It was originally described by Henri Claude and Jean Lhermitte in 1917, in a patient with a craniopharyngioma. This study investigates the clinical, pathological and surgical evidence verifying the infundibulo-tuberal syndrome caused by craniopharyngiomas (CPs). A systematic retrospective review of craniopharyngiomas reported in French literature between 1705 and 1973 was conducted. A total of 128 well described reports providing a comprehensive clinical and pathological description of the tumors were selected. This series represents the historical French cohort of CPs reported in the pre-CT/MRI era. Three major syndromes caused by CPs were categorized: pituitary syndrome (35%), infundibulo-tuberal syndrome (52%) and hypothalamic syndrome (49%). CP topography was significantly related to the type of syndrome described (p < 0.001). Infundibulo-tuberal syndrome occurred in CPs which replaced or invaded the third ventricle floor. In contrast, the majority of sellar/suprasellar CPs growing below the third ventricle showed a pituitary syndrome (82%). Cases with hypothalamic syndrome were characterized by anatomical integrity of the pituitary gland and stalk (p = 0.033) and occurred predominantly in adults older than 41 years old (p < 0.005). Among infundibulo-tuberal symptoms, abnormal somnolence was not related with the presence of hydrocephalus. All squamous-papillary CPs presented psychiatric disturbances (p < 0.001). This historical CP cohort evidences a clinical-topographical correlation between the patient's type of syndrome and the anatomical structures involved by the tumor along the hypophysial-hypothalamic axis.

Lung recruitability is better estimated according to the Berlin definition of acute respiratory distress syndrome at standard 5 cm H2O rather than higher positive end-expiratory pressure: a retrospective cohort study.

PubMed

Caironi, Pietro; Carlesso, Eleonora; Cressoni, Massimo; Chiumello, Davide; Moerer, Onner; Chiurazzi, Chiara; Brioni, Matteo; Bottino, Nicola; Lazzerini, Marco; Bugedo, Guillermo; Quintel, Michael; Ranieri, V Marco; Gattinoni, Luciano

2015-04-01

The Berlin definition of acute respiratory distress syndrome has introduced three classes of severity according to PaO2/FIO2 thresholds. The level of positive end-expiratory pressure applied may greatly affect PaO2/FIO2, thereby masking acute respiratory distress syndrome severity, which should reflect the underlying lung injury (lung edema and recruitability). We hypothesized that the assessment of acute respiratory distress syndrome severity at standardized low positive end-expiratory pressure may improve the association between the underlying lung injury, as detected by CT, and PaO2/FIO2-derived severity. Retrospective analysis. Four university hospitals (Italy, Germany, and Chile). One hundred forty-eight patients with acute lung injury or acute respiratory distress syndrome according to the American-European Consensus Conference criteria. Patients underwent a three-step ventilator protocol (at clinical, 5 cm H2O, or 15 cm H2O positive end-expiratory pressure). Whole-lung CT scans were obtained at 5 and 45 cm H2O airway pressure. Nine patients did not fulfill acute respiratory distress syndrome criteria of the novel Berlin definition. Patients were then classified according to PaO2/FIO2 assessed at clinical, 5 cm H2O, or 15 cm H2O positive end-expiratory pressure. At clinical positive end-expiratory pressure (11±3 cm H2O), patients with severe acute respiratory distress syndrome had a greater lung tissue weight and recruitability than patients with mild or moderate acute respiratory distress syndrome (p<0.001). At 5 cm H2O, 54% of patients with mild acute respiratory distress syndrome at clinical positive end-expiratory pressure were reclassified to either moderate or severe acute respiratory distress syndrome. In these patients, lung recruitability and clinical positive end-expiratory pressure were higher than in patients who remained in the mild subgroup (p<0.05). When patients were classified at 5 cm H2O, but not at clinical or 15 cm H2O, lung

Neonatal pulmonary arterial hypertension and Noonan syndrome: two fatal cases with a specific RAF1 mutation.

PubMed

Hopper, Rachel K; Feinstein, Jeffrey A; Manning, Melanie A; Benitz, William; Hudgins, Louanne

2015-04-01

Mutations in RAF1 are associated with Noonan syndrome and hypertrophic cardiomyopathy. We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal. The RAF1 gene encodes Raf-1 kinase, part of the Ras/mitogen-activated kinase (MAPK) signaling pathway, which has been linked to the development of PAH. This specific mutation has been associated with dephosphorylation of a critical serine residue and constitutive activation of the Raf-1 kinase. These two cases suggest that abnormal activation of the Ras/MAPK pathway may play a significant role in the development of pulmonary vascular disease in the subset of patients with Noonan syndrome and a specific RAF1 mutation. © 2015 Wiley Periodicals, Inc.

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery.

PubMed

Vesseur, A C; Verbist, B M; Westerlaan, H E; Kloostra, F J J; Admiraal, R J C; van Ravenswaaij-Arts, C M A; Free, R H; Mylanus, E A M

2016-12-01

To provide an overview of anomalies of the temporal bone in CHARGE syndrome relevant to cochlear implantation (CI), anatomical structures of the temporal bone and the respective genotypes were analysed. In this retrospective study, 42 CTs of the temporal bone of 42 patients with CHARGE syndrome were reviewed in consensus by two head-and-neck radiologists and two otological surgeons. Anatomical structures of the temporal bone were evaluated and correlated with genetic data. Abnormalities that might affect CI surgery were seen, such as a vascular structure, a petrosquamosal sinus (13 %), an underdeveloped mastoid (8 %) and an aberrant course of the facial nerve crossing the round window (9 %) and/or the promontory (18 %). The appearance of the inner ear varied widely: in 77 % of patients all semicircular canals were absent and the cochlea varied from normal to hypoplastic. A stenotic cochlear aperture was observed in 37 %. The middle ear was often affected with a stenotic round (14 %) or oval window (71 %). More anomalies were observed in patients with truncating mutations than with non-truncating mutations. Temporal bone findings in CHARGE syndrome vary widely. Vascular variants, aberrant route of the facial nerve, an underdeveloped mastoid, aplasia of the semicircular canals, and stenotic round window may complicate cochlear implantation.

Peptide Receptor Radionuclide Therapy with 177Lu-DOTATATE for Metastatic Neuroendocrine Tumor Occurring in Association with Multiple Endocrine Neoplasia Type 1 and Cushing's Syndrome.

PubMed

Naik, Chinna; Basu, Sandip

2017-01-01

Neuroendocrine tumor (NET) occurring in association with other endocrine syndromes forms a distinct entity. The aim was to assess the therapy response profile of the routine peptide receptor radionuclide therapy (PRRT) in this relatively uncommon but clinically challenging subgroup of patients. A retrospective analysis was undertaken from the case records from those who were treated with 177 Lu-DOTATATE for metastatic NET. In addition to assessing the therapeutic efficacy, emphasis was also given to study lesional sites and scan pattern. A total of 5 cases were found: In this series of five cases, four belonged to multiple endocrine neoplasia type 1 (MEN1) syndrome; in these four MEN1 syndrome patients, the primary site of NET was thymic region ( n = 1), duodenum ( n = 1), and pancreas ( n = 2). The fifth case was of Cushing's syndrome with the primary site of NET in the thymus. A good symptomatic response was observed in all MEN1 syndrome cases (100%) and progression of symptoms in the patient with Cushing's syndrome. The biochemical response (assessed by measurement of tumor marker serum chromogranin A) demonstrated very good partial response (defined by more than 75% reduction of tumor marker) in 2 MEN1 cases and Cushing's syndrome, good partial response (25-75% reduction of tumor marker) in the remaining 2 MEN1 cases. Scan wise (assessed by technetium [ 99m Tc]-hydrazinonicotinamide [HYNIC]-tektrotyd [TOC]/ 68 Ga-DOTA-NOC/TATE positron emission tomography-computed tomography [PET-CT] and fluorodeoxyglucose [FDG] PET-CT) partial response was observed in 3 MEN1 cases, stable disease was noted in one MEN1 case and disease progression was noted in the patient with Cushing's syndrome. The change in FDG uptake was found to be an important sensitive scan parameter in the treatment evaluation of NETs compared to somatostatin receptor-based imaging in the cases with low MiB1 index. In our series, good palliative response to 177 Lu-DOTA-octreotate (DOTATATE) PRRT was

[Sotos syndrome associated with focal dystonia].

PubMed

Bravo, M; Chacón, J; Bautista, E; Pérez-Camacho, I; Trujillo, A; Grande, M A

Sotos syndrome is a form of infantile gigantism characterized by excessive body size from the time of birth, particular facies, acromegalic changes and signs of non-progressive cerebral involvement. The etiology is unknown. Diagnosis is based on somatometric data and the particular phenotype traits. Biochemical and endocrine studies are normal. Torticollis is a focal dystonia and therefore more common in adults. A 20 year old woman with macrosomic features since birth presented with: weight 104 kg, height 182 cm; prognathism, hypertelorism, a broad over hanging forehead with a high hair line; large ears, hands and feet; torticollis towards the right with elevation and anteroversion of the right shoulder which caused symptomatic scoliosis. She was bradypsychic and rather slow in speech. The complementary tests done (cerebral and cervical CT and MR, bone gammography, evoked potentials, EMG-ENG, sural nerve biopsy, biopsy of skin and muscle, EEG and hormone and biochemistry studies) were normal. The torticollis was treated with botulinus toxin and improved considerably, as did the scoliosis. To date, dystonia has not been described in association with Sotos syndrome. This may be a causal association, or even perhaps hereditary, since the patient's mother had dystonia (in the form of blepharospasm).

Congenital bronchopulmonary malformation: CT histopathological correlation.

PubMed

Kyncl, Martin; Koci, Martin; Ptackova, Lea; Hornofova, Ludmila; Ondrej, Fabian; Snajdauf, Jiri; Pychova, Marcela

2016-12-01

This study evaluated the accuracy of postnatal computed tomography (CT) imaging in the identification of congenital bronchopulmonary malformation (BPM) in comparison with histopathological analysis. CT scans of prenatally diagnosed BPMs from 24 patients with available histology were analysed retrospectively. The CT images were reviewed blinded to histological findings by two radiologists. Specific diagnosis was assigned based on predetermined criteria. The accuracy of CT was evaluated. The agreement rate in CT diagnosis between two radiologists was 100%. In 75% the lesions were located in the lower lobes. An overlap of 71% in CT and histopathological diagnoses was reached. The least matching diagnosis was type 2 CPAM. Contrast enhanced chest CT is very accurate in characterizing the BPM spectrum and provides important information on lesion type and structure.

The subclavius posticus muscle: an unusual cause of thoracic outlet syndrome.

PubMed

Smayra, T; Nabhane, L; Tabet, G; Menassa-Moussa, L; Hachem, K; Haddad-Zebouni, S

2014-09-01

We present the case of a 30-year-old female, complaining of thoracic outlet compression symptoms caused by a supernumerary muscle, the subclavius posticus, accompanied by a caudally inserted middle scalenus muscle on the second rib. This rare anatomic variant was clearly shown on CT angiography and MRI images and surgical treatment was successful. As first described by Rosenmuller in 1800, subclavius posticus is a supernumerary muscle originating from the cranial surface of the sternal end of the first rib, running laterodorsally beneath the clavicle, and inserting into the superior border of the scapula. Its role in thoracic outlet syndrome has been seldom demonstrated in living patients nor described in imaging, although it is theoretically easily recognizable on modern imaging modalities. It should be taken into account during workout of patients with thoracic outlet syndrome, since it can be potentially treated.

Cross-modality PET/CT and contrast-enhanced CT imaging for pancreatic cancer

PubMed Central

Zhang, Jian; Zuo, Chang-Jing; Jia, Ning-Yang; Wang, Jian-Hua; Hu, Sheng-Ping; Yu, Zhong-Fei; Zheng, Yuan; Zhang, An-Yu; Feng, Xiao-Yuan

2015-01-01

AIM: To explore the diagnostic value of the cross-modality fusion images provided by positron emission tomography/computed tomography (PET/CT) and contrast-enhanced CT (CECT) for pancreatic cancer (PC). METHODS: Data from 70 patients with pancreatic lesions who underwent CECT and PET/CT examinations at our hospital from August 2010 to October 2012 were analyzed. PET/CECT for the cross-modality image fusion was obtained using TureD software. The diagnostic efficiencies of PET/CT, CECT and PET/CECT were calculated and compared with each other using a χ2 test. P < 0.05 was considered to indicate statistical significance. RESULTS: Of the total 70 patients, 50 had PC and 20 had benign lesions. The differences in the sensitivity, negative predictive value (NPV), and accuracy between CECT and PET/CECT in detecting PC were statistically significant (P < 0.05 for each). In 15 of the 31 patients with PC who underwent a surgical operation, peripancreatic vessel invasion was verified. The differences in the sensitivity, positive predictive value, NPV, and accuracy of CECT vs PET/CT and PET/CECT vs PET/CT in diagnosing peripancreatic vessel invasion were statistically significant (P < 0.05 for each). In 19 of the 31 patients with PC who underwent a surgical operation, regional lymph node metastasis was verified by postsurgical histology. There was no statistically significant difference among the three methods in detecting regional lymph node metastasis (P > 0.05 for each). In 17 of the 50 patients with PC confirmed by histology or clinical follow-up, distant metastasis was confirmed. The differences in the sensitivity and NPV between CECT and PET/CECT in detecting distant metastasis were statistically significant (P < 0.05 for each). CONCLUSION: Cross-modality image fusion of PET/CT and CECT is a convenient and effective method that can be used to diagnose and stage PC, compensating for the defects of PET/CT and CECT when they are conducted individually. PMID:25780297

[A case of Churg-Strauss syndrome with subarachnoid hemorrhage].

PubMed

Ito, Miiko; Kato, Naoki; Su, Ching-Chan; Kayama, Takamasa

2014-03-01

Churg-Strauss syndrome (CSS) is a vasculitis syndromes and is only rarely complicated by subarachnoid hemorrhage. In the current report, we describe a case of CSS with subarachnoid hemorrhage, which showed a favorable outcome following conservative treatment. A 68-year-old man with CSS on maintenance steroid therapy underwent MRI/A during tinnitus aggravation, and showed dilation of the left middle cerebral artery and stenosis of the peripheral area of the right vertebral artery. After 2 months, he presented sudden pain in the occipitocervical area, and CT revealed subarachnoid hemorrhage. Intracranial 3D CT-A and MRI/A showed the development of a protrusion at the base of the left anterior cerebral artery. Although both findings suggested cerebral artery dissection, the source of hemorrhage could not be identified. The 2009 Japanese Guidelines for the Management of Stroke recommends early diagnosis and treatment of hemorrhagic cerebral artery dissection because of the high risk of re-bleeding. However, considering the risks of vasculitis aggravation, development of systemic complications, and recurrence, conservative treatment was selected. In addition, owing to the risk of complications associated with the frequent use of iodinated contrast agents and angiography procedures, patient was followed up using MRI. His course was favorable, and he was discharged despite mild right abducens paralysis. When patients with hemorrhagic cerebral artery dissection have a history of allergic diseases, CCS should be considered; conservative treatment consisting of rest, strict blood pressure control, and steroid therapy may be the most appropriate option for certain patients.

Three-Channeled Aortic Dissection in a Patient without Marfan Syndrome

PubMed Central

Arita, Yoshie Inoue; Yamamoto, Takeshi; Hosokawa, Yusuke; Fujii, Masahiro; Nitta, Takashi; Shimizu, Wataru

2017-01-01

A 64-year-old man was admitted for evaluation of back pain. He did not have a Marfan syndrome (MFS)-like appearance, and had a history of a type B aortic dissection and total arch replacement. A connective tissue disorder had been suspected because of the histologic findings of the resected aortic wall. On admission, a computed tomography (CT) scan demonstrated a three-channeled aortic dissection (3ch-AD) measuring 63 mm in diameter. We planned to perform elective surgery during his hospitalization. On the fourth hospital day, he complained of severe back pain, and enhanced CT scan revealed an aortic rupture. The patients with 3ch-AD often have MFS. However, even if they do not have an MFS-like appearance, clinicians should consider fragility of the aortic wall in patients with 3ch-AD. If the aortic diameter is enlarged, early surgery is recommended. In particular, if a connective tissue disorder is obvious or suspected, emergent surgery is warranted. PMID:29187676

A rare cause of Cushing's syndrome: an ACTH-secreting phaeochromocytoma.

PubMed

Folkestad, Lars; Andersen, Marianne Skovsager; Nielsen, Anne Lerberg; Glintborg, Dorte

2014-10-08

Excess glucocorticoid levels cause Cushing's syndrome (CS) and may be due to pituitary, adrenal or ectopic tumours. Adrenocorticotropic hormone (ACTH) levels are useful in identifying adrenal tumours. In rare cases, ACTH-producing phaeochromocytomas are the cause of CS. We present two cases of ACTH-secreting phaeochromocytoma as the underlying cause of CS. In both cases, female patients presented with the classical clinical signs of CS and an adrenal mass. High ACTH levels raised the suspicion of an ACTH-secreting phaeochromocytoma. The diagnosis was confirmed by urinary catecholamine levels and positive fluorine-18-L-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET) CT (Case 1) and fluorodeoxyglucose PET-CT (Case 2). Both patients were treated with an α-blocker prior to surgical intervention. The two cases underline the importance of thorough diagnostic workup in patients with CS. An ACTH-secreting phaeochromocytoma should be checked for in patients with an adrenal mass and elevated ACTH levels. 2014 BMJ Publishing Group Ltd.

A rare cause of Cushing's syndrome: an ACTH-secreting phaeochromocytoma

PubMed Central

Folkestad, Lars; Andersen, Marianne Skovsager; Nielsen, Anne Lerberg; Glintborg, Dorte

2014-01-01

Excess glucocorticoid levels cause Cushing's syndrome (CS) and may be due to pituitary, adrenal or ectopic tumours. Adrenocorticotropic hormone (ACTH) levels are useful in identifying adrenal tumours. In rare cases, ACTH-producing phaeochromocytomas are the cause of CS. We present two cases of ACTH-secreting phaeochromocytoma as the underlying cause of CS. In both cases, female patients presented with the classical clinical signs of CS and an adrenal mass. High ACTH levels raised the suspicion of an ACTH-secreting phaeochromocytoma. The diagnosis was confirmed by urinary catecholamine levels and positive fluorine-18-L-dihydroxyphenylalanine (18F-DOPA) positron emission tomography (PET) CT (Case 1) and fluorodeoxyglucose PET-CT (Case 2). Both patients were treated with an α-blocker prior to surgical intervention. The two cases underline the importance of thorough diagnostic workup in patients with CS. An ACTH-secreting phaeochromocytoma should be checked for in patients with an adrenal mass and elevated ACTH levels. PMID:25297883

Fahr's Syndrome

MedlinePlus

... 55 Kenosia Avenue Danbury CT Danbury, CT 06810 orphan@rarediseases.org http://rarediseases.org Tel: 203-744- ... 55 Kenosia Avenue Danbury CT Danbury, CT 06810 orphan@rarediseases.org http://rarediseases.org Tel: 203-744- ...

High pitch third generation dual-source CT: Coronary and Cardiac Visualization on Routine Chest CT

PubMed Central

Sandfort, Veit; Ahlman, Mark; Jones, Elizabeth; Selwaness, Mariana; Chen, Marcus; Folio, Les; Bluemke, David A.

2016-01-01

Background Chest CT scans are frequently performed in radiology departments but have not previously contained detailed depiction of cardiac structures. Objectives To evaluate myocardial and coronary visualization on high-pitch non-gated CT of the chest using 3rd generation dual-source computed tomography (CT). Methods Cardiac anatomy of patients who had 3rd generation, non-gated high pitch contrast enhanced chest CT and who also had prior conventional (low pitch) chest CT as part of a chest abdomen pelvis exam was evaluated. Cardiac image features were scored by reviewers blinded to diagnosis and pitch. Paired analysis was performed. Results 3862 coronary segments and 2220 cardiac structures were evaluated by two readers in 222 CT scans. Most patients (97.2%) had chest CT for oncologic evaluation. The median pitch was 2.34 (IQR 2.05, 2.65) in high pitch and 0.8 (IQR 0.8, 0.8) in low pitch scans (p<0.001). High pitch CT showed higher image visualization scores for all cardiovascular structures compared with conventional pitch scans (p<0.0001). Coronary arteries were visualized in 9 coronary segments per exam in high pitch scans versus 2 segments for conventional pitch (p<0.0001). Radiation exposure was lower in the high pitch group compared with the conventional pitch group (median CTDIvol 10.83 vs. 12.36 mGy and DLP 790 vs. 827 mGycm respectively, p <0.01 for both) with comparable image noise (p=0.43). Conclusion Myocardial structure and coronary arteries are frequently visualized on non-gated 3rd generation chest CT. These results raise the question of whether the heart and coronary arteries should be routinely interpreted on routine chest CT that is otherwise obtained for non-cardiac indications. PMID:27133589

Chest Computed Tomography (CT) Immediately after CT-Guided Transthoracic Needle Aspiration Biopsy as a Predictor of Overt Pneumothorax

PubMed Central

Noh, Tae June; Lee, Chang Hoon; Kang, Young Ae; Kwon, Sung-Youn; Yoon, Ho-Il; Kim, Tae Jung; Lee, Kyung Won; Lee, Jae Ho

2009-01-01

Background/Aims This study examined the correlation between pneumothorax detected by immediate post-transthoracic needle aspiration-biopsy (TTNB) chest computed tomography (CT) and overt pneumothorax detected by chest PA, and investigated factors that might influence the correlation. Methods Adult patients who had undergone CT-guided TTNB for lung lesions from May 2003 to June 2007 at Seoul National University Bundang Hospital were included. Immediate post-TTNB CT and chest PA follow-up at 4 and 16 hours after CT-guided TTNB were performed in 934 patients. Results Pneumothorax detected by immediate chest CT (CT-pneumothorax) was found in 237 (25%) and overt pneumothorax was detected by chest PA follow-up in 92 (38.8%) of the 237 patients. However, overt pneumothorax was found in 18 (2.6%) of the 697 patients without CT-pneumothorax. The width and depth of CT-pneumothorax were predictive risk factors for overt pneumothorax. Conclusions CT-pneumothorax is very sensitive for predicting overt pneumothorax, and the width and depth on CT-pneumothorax are reliable risk factors for predicting overt pneumothorax. PMID:19949733

Diagnostic imaging in paraneoplastic autoimmune multiorgan syndrome: retrospective single site study and literature review of 225 patients.

PubMed

Lehman, Vance T; Barrick, Benjamin J; Pittelkow, Mark R; Peller, Patrick J; Camilleri, Michael J; Lehman, Julia S

2015-04-01

The utility of diagnostic imaging in paraneoplastic autoimmune multiorgan syndrome (PAMS) is unknown. We examined the role of diagnostic imaging in patients with PAMS evaluated at our tertiary referral center (at Mayo Clinic, Rochester, MN, USA) and in the English literature between January 1, 1996, and August 31, 2012. We included 17 patients from our institution and 208 patients from the literature review. Of these 225 patients, 113 (50.2%) were not known to have a malignancy diagnosis at the time of PAMS diagnosis. Of the 123 patients from our institution and from the literature reported to undergo imaging studies, conventional computed tomography (CT) was the predominant imaging modality (n = 110; 89.4%); 18F-fluorodeoxyglucose (18F-FDG) positron emission tomography (PET)/CT was also used, albeit infrequently (n = 12; 9.8%). When CT was included in imaging to identify or confirm the presence of a malignancy, imaging was successful in all patients who ultimately were diagnosed with an associated malignancy. At our institution, a relatively high percentage (n = 7; 41%) of patients had 18F-FDG PET/CT, which not only identified all tumors found on CT but also facilitated staging of lymphoma and guided biopsy procedures. Diagnostic imaging is frequently utilized in PAMS with unknown malignancy. Both conventional CT and 18F-FDG PET/CT are likely to detect the typical underlying neoplasms. Relative to conventional CT, 18F-FDG PET/CT may provide additional useful information regarding prognosis for the likely underlying malignancies, although there is a paucity of reports describing the use of this modality for this purpose. © 2014 The International Society of Dermatology.

[Comparative study of cone-beam CT and spiral CT in measuring the length of styloid process].

PubMed

Song, Y S; Liu, L F

2018-06-19

Objective: To compare the difference of measuring the length of styloid process between spiral CT with high resolution and cone-beam CT(CBCT). Methods: Five specimens (including 5 pairs of styloid processes) were selected randomly from the Anatomy Laboratory of Otolaryngology Department, all the specimens underwent spiral CT with high resolution and cone-beam CT retrospectively.With the original DICOM data, the styloid processes were shown in one plate by multiple plate reconstruction technique, and later the length of styloid processes of each specimen were measured separately by software NNT Viewer (to CBCT) or Osrix (to spiral CT with high resolution). Results: The length of styloid processes measured by CBCT and spiral CT was (26.8±5.5) mm and (27.1±5.4) mm respectively, and there was no statistical difference between the two groups. Conclusion: In respect of measuring the length of styloid process, the CBCT has the same value in clinical practice comparing to spiral CT with high resolution.

[Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

PubMed

Zheng, Lei; Yan, Yousheng; Chen, Xue; Zhang, Chuan; Zhang, Qinghua; Feng, Xuan; Hao, Shen

2018-02-10

OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. CONCLUSION The c.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

Automated size-specific CT dose monitoring program: assessing variability in CT dose.

PubMed

Christianson, Olav; Li, Xiang; Frush, Donald; Samei, Ehsan

2012-11-01

The potential health risks associated with low levels of ionizing radiation have created a movement in the radiology community to optimize computed tomography (CT) imaging protocols to use the lowest radiation dose possible without compromising the diagnostic usefulness of the images. Despite efforts to use appropriate and consistent radiation doses, studies suggest that a great deal of variability in radiation dose exists both within and between institutions for CT imaging. In this context, the authors have developed an automated size-specific radiation dose monitoring program for CT and used this program to assess variability in size-adjusted effective dose from CT imaging. The authors radiation dose monitoring program operates on an independent health insurance portability and accountability act compliant dosimetry server. Digital imaging and communication in medicine routing software is used to isolate dose report screen captures and scout images for all incoming CT studies. Effective dose conversion factors (k-factors) are determined based on the protocol and optical character recognition is used to extract the CT dose index and dose-length product. The patient's thickness is obtained by applying an adaptive thresholding algorithm to the scout images and is used to calculate the size-adjusted effective dose (ED(adj)). The radiation dose monitoring program was used to collect data on 6351 CT studies from three scanner models (GE Lightspeed Pro 16, GE Lightspeed VCT, and GE Definition CT750 HD) and two institutions over a one-month period and to analyze the variability in ED(adj) between scanner models and across institutions. No significant difference was found between computer measurements of patient thickness and observer measurements (p = 0.17), and the average difference between the two methods was less than 4%. Applying the size correction resulted in ED(adj) that differed by up to 44% from effective dose estimates that were not adjusted by patient size

Comparison of the Canadian CT head rule and the New Orleans criteria in patients with minor head injury in a Spanish hospital.

PubMed

Valle Alonso, Joaquín; Fonseca Del Pozo, Francisco Javier; Vaquero Álvarez, Manuel; Lopera Lopera, Elisa; Garcia Segura, Marisol; García Arévalo, Ricardo

2016-12-16

To compare two scales for assessment of patients with mild head injury. The Canadian CT Head Rule (CCHR) and New Orleans Criteria (NOC) according to their diagnostic accuracy in patients attending an emergency department, and to determine the most important predictive values. Cross-sectional study in a first-level Hospital in the period of January 2011 to January 2013. Patients with mild head injury criteria were included. All the patients underwent a computed tomography (CT) of the head as part of internal protocol and the CCHR and NOC criteria were recorded for each patient. We consider the main variable the presence of traumatic lesions on CT and, as secondary variables, neurosurgical intervention and post-concussion syndrome. Sensitivity, specificity, predictive values and validity index (VI) of the CCHR and the NO criteria in the subgroup of patients with a Glasgow Coma Scale (GCS) score of 15 points were compared. A total of 217 patients, of whom 197 had a GCS score of 15 points were evaluated. Both rules showed 100% sensitivity when a significant injury was presented in the CT, the CCHR 100% (95% CI: 97.4%-100%) and the NO criteria 100% (95% CI: 97.4%-100%); but the CCHR achieved higher values of specificity 25.3% (95% CI: 18.6%-32%), positive predictive value (PPV) and VI. The two rules showed a 100% sensitivity regarding neurosurgical intervention; however the CCHR with high-risk criteria showed better specificity, PPV and VI 55.2 (95% CI: 8.3%-62.2%) compared to the NO criteria 7.6 (95% CI: 3.8%-11.5%). With regard to post-concussion syndrome criteria NO criteria showed better sensitivity 100% (95% CI: 96.2%-100%) and predictive values, but lower specificity and VI compared with the CCHR 76.9% (95% CI: 50.2%-100%). Our study demonstrates the high sensitivity of the CCHR and the NO criteria in patients with mild head injury, both to detect a significant clinical lesion on CT or the need for neurosurgical intervention and better specificity of CCHR compared

NETL CT Imaging Facility

ScienceCinema

None

2018-02-13

NETL's CT Scanner laboratory is equipped with three CT scanners and a mobile core logging unit that work together to provide characteristic geologic and geophysical information at different scales, non-destructively.

Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome.

PubMed

Settecase, Fabio; Nicholson, Andrew D; Amans, Matthew R; Higashida, Randall T; Halbach, Van V; Cooke, Daniel L; Dowd, Christopher F; Hetts, Steven W

2016-03-01

A 13-year-old boy with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome presented with an enlarging "lump" on his right forehead. A head CT scan revealed a polyostotic fibrous dysplasia involving the entire skull. A 3.4-cm right frontal osseous cavity and an overlying right forehead subcutaneous soft-tissue mass were seen, measuring 5.2 cm in diameter and 1.6 cm thick. Ultrasound of the cavity and overlying mass showed swirling of blood and an arterialized waveform. MRI revealed an en plaque meningioma underlying the cavity. An intraosseous pseudoaneurysm fed by 3 distal anterior division branches of the right middle meningeal artery (MMA) with contrast extravasation was found on angiography. Two MMA feeders were embolized with Onyx, with anterograde filling of the intraosseous cavity with Onyx. A small pocket of residual intracavity contrast filling postembolization from a smaller third MMA feeder eventually thrombosed and the forehead lump regressed.

(18)F-FDG PET-CT simulation for non-small-cell lung cancer: effect in patients already staged by PET-CT.

PubMed

Hanna, Gerard G; McAleese, Jonathan; Carson, Kathryn J; Stewart, David P; Cosgrove, Vivian P; Eakin, Ruth L; Zatari, Ashraf; Lynch, Tom; Jarritt, Peter H; Young, V A Linda; O'Sullivan, Joe M; Hounsell, Alan R

2010-05-01

Positron emission tomography (PET), in addition to computed tomography (CT), has an effect in target volume definition for radical radiotherapy (RT) for non-small-cell lung cancer (NSCLC). In previously PET-CT staged patients with NSCLC, we assessed the effect of using an additional planning PET-CT scan for gross tumor volume (GTV) definition. A total of 28 patients with Stage IA-IIIB NSCLC were enrolled. All patients had undergone staging PET-CT to ensure suitability for radical RT. Of the 28 patients, 14 received induction chemotherapy. In place of a RT planning CT scan, patients underwent scanning on a PET-CT scanner. In a virtual planning study, four oncologists independently delineated the GTV on the CT scan alone and then on the PET-CT scan. Intraobserver and interobserver variability were assessed using the concordance index (CI), and the results were compared using the Wilcoxon signed ranks test. PET-CT improved the CI between observers when defining the GTV using the PET-CT images compared with using CT alone for matched cases (median CI, 0.57 for CT and 0.64 for PET-CT, p = .032). The median of the mean percentage of volume change from GTV(CT) to GTV(FUSED) was -5.21% for the induction chemotherapy group and 18.88% for the RT-alone group. Using the Mann-Whitney U test, this was significantly different (p = .001). PET-CT RT planning scan, in addition to a staging PET-CT scan, reduces interobserver variability in GTV definition for NSCLC. The GTV size with PET-CT compared with CT in the RT-alone group increased and was reduced in the induction chemotherapy group.

A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.

PubMed

Yukawa, Takuro; Fukazawa, Takuya; Yoshida, Masakazu; Morita, Ichiro; Kato, Katsuya; Monobe, Yasumasa; Furuya, Mitsuko; Naomoto, Yoshio

2016-10-26

BACKGROUND Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder clinically characterized by pulmonary cysts, spontaneous pneumothorax, renal cell cancer, and skin fibrofolliculomas. The disorder is caused by germline mutations in the FLCN gene. CASE REPORT A 56-year-old female was admitted to our hospital with a diagnosis of bilateral spontaneous pneumothorax. A computed tomography (CT) scan of the chest revealed bilateral multiple bullae predominantly located in the subpleural and mediastinal areas in the bilateral upper and lower lobes. Although she was cured by thoracic cavity drainage, she underwent resection of bilateral lung bullae because she had a prior history of right pneumothorax at 37- and 45-years of age. She had no signs of renal tumor but had fibrofolliculoma in her face and a family history of pneumothorax, we therefore suspected BHD syndrome. DNA sequence analyses determined that there was a two base pair deletion in exon 4 of the FLCN gene, confirming the diagnosis of BHD syndrome. CONCLUSIONS Here we report a case of BHD syndrome with a previously unreported FLCN mutation.

Radiomics of CT Features May Be Nonreproducible and Redundant: Influence of CT Acquisition Parameters.

PubMed

Berenguer, Roberto; Pastor-Juan, María Del Rosario; Canales-Vázquez, Jesús; Castro-García, Miguel; Villas, María Victoria; Legorburo, Francisco Mansilla; Sabater, Sebastià

2018-04-24

Purpose To identify the reproducible and nonredundant radiomics features (RFs) for computed tomography (CT). Materials and Methods Two phantoms were used to test RF reproducibility by using test-retest analysis, by changing the CT acquisition parameters (hereafter, intra-CT analysis), and by comparing five different scanners with the same CT parameters (hereafter, inter-CT analysis). Reproducible RFs were selected by using the concordance correlation coefficient (as a measure of the agreement between variables) and the coefficient of variation (defined as the ratio of the standard deviation to the mean). Redundant features were grouped by using hierarchical cluster analysis. Results A total of 177 RFs including intensity, shape, and texture features were evaluated. The test-retest analysis showed that 91% (161 of 177) of the RFs were reproducible according to concordance correlation coefficient. Reproducibility of intra-CT RFs, based on coefficient of variation, ranged from 89.3% (151 of 177) to 43.1% (76 of 177) where the pitch factor and the reconstruction kernel were modified, respectively. Reproducibility of inter-CT RFs, based on coefficient of variation, also showed large material differences, from 85.3% (151 of 177; wood) to only 15.8% (28 of 177; polyurethane). Ten clusters were identified after the hierarchical cluster analysis and one RF per cluster was chosen as representative. Conclusion Many RFs were redundant and nonreproducible. If all the CT parameters are fixed except field of view, tube voltage, and milliamperage, then the information provided by the analyzed RFs can be summarized in only 10 RFs (each representing a cluster) because of redundancy. © RSNA, 2018 Online supplemental material is available for this article.

Synthetic Hounsfield units from spectral CT data

NASA Astrophysics Data System (ADS)

Bornefalk, Hans

2012-04-01

Beam-hardening-free synthetic images with absolute CT numbers that radiologists are used to can be constructed from spectral CT data by forming ‘dichromatic’ images after basis decomposition. The CT numbers are accurate for all tissues and the method does not require additional reconstruction. This method prevents radiologists from having to relearn new rules-of-thumb regarding absolute CT numbers for various organs and conditions as conventional CT is replaced by spectral CT. Displaying the synthetic Hounsfield unit images side-by-side with images reconstructed for optimal detectability for a certain task can ease the transition from conventional to spectral CT.

Photon counting spectral breast CT: effect of adaptive filtration on CT numbers, noise, and contrast to noise ratio.

PubMed

Silkwood, Justin D; Matthews, Kenneth L; Shikhaliev, Polad M

2013-05-01

Photon counting spectral (PCS) computed tomography (CT) shows promise for breast imaging. An issue with current photon-counting detectors is low count rate capabilities, artifacts resulting from nonuniform count rate across the field of view, and suboptimal spectral information. These issues are addressed in part by using tissue-equivalent adaptive filtration of the x-ray beam. The purpose of the study was to investigate the effect of adaptive filtration on different aspects of PCS breast CT. The theoretical formulation for the filter shape was derived for different filter materials and evaluated by simulation and an experimental prototype of the filter was fabricated from a tissue-like material (acrylic). The PCS CT images of a glandular breast phantom with adipose and iodine contrast elements were simulated at 40, 60, 90, and 120 kVp tube voltages, with and without adaptive filter. The CT numbers, CT noise, and contrast-to-noise ratio (CNR) were compared for spectral CT images acquired with and without adaptive filters. Similar comparison was made for material-decomposed PCS CT images. The adaptive filter improved the uniformity of CT numbers, CT noise, and CNR in both ordinary and material decomposed PCS CT images. At the same tube output the average CT noise with adaptive filter, although uniform, was higher than the average noise without adaptive filter due to x-ray absorption by the filter. Increasing tube output, so that average skin exposure with the adaptive filter was same as without filter, made the noise with adaptive filter comparable to or lower than that without adaptive filter. Similar effects were observed when energy weighting was applied, and when material decompositions were performed using energy selective CT data. An adaptive filter decreases count rate requirements to the photon counting detectors which enables PCS breast CT based on commercially available detector technologies. Adaptive filter also improves image quality in PCS breast CT by

Usefulness of 68Ga-DOTA-RGD (αvβ3) PET/CT Imaging in Thyroglobulin Elevation With Negative Iodine Scintigraphy.

PubMed

Vatsa, Rakhee; Shykla, Jaya; Mittal, Bhagwant Rai; Bhusari, Priya; Sood, Apurva; Basher, Rajender Kumar; Bhattacharya, Anish

2017-06-01

TENIS (thyroglobulin elevation with negative iodine scintigraphy) syndrome in patients with differentiated thyroid carcinoma is not a rare finding. In such patients, F-FDG PET/CT can help in disease evaluation. RGD tripeptide, used for imaging angiogenesis, may also help in disease detection in patients with negative radioiodine whole-body scan. We present 1 such case in whom Ga-RGD tripeptide imaging was helpful in disease detection in the setting of negative radioiodine whole-body scan.

The New Face of Genetics: Creating A Multimedia Educational Tool for the Twenty-First Century

NASA Astrophysics Data System (ADS)

Fan, Audrey

In the study of certain genetic conditions, it is important to understand the specific "dysmorphology" associated with them. This describes the unique anatomical manifestations of the genetic condition. Traditionally, students learn about dysmorphology by reading text descriptions or looking at photographs of affected individuals. The New Face of Genetics is a film project that aims to teach students dysmorphology by featuring people who have specific genetic conditions. The goal is to enhance students' understanding of these conditions as well as to impart the humanity and beauty of the people who appear in the film. Students will have the opportunity to see dysmorphic features on the animated human form as well as meet individuals who are living with genetic difference. The target audience includes genetic counseling students and other medical professionals. Three short films were made in this format to demonstrate how this type of educational tool can be made. The featured conditions were Marfan syndrome, Sturge-Weber syndrome and Joubert syndrome. Future work will be carried out by other genetic counseling students who will make additional films based on our templates. A compendium of approximately 20 films will be eventually completed and released to genetic counseling programs and medical schools.

Serial changes in anatomy and ventricular function on dual-source cardiac computed tomography after the Norwood procedure for hypoplastic left heart syndrome.

PubMed

Goo, Hyun Woo

2017-12-01

Accurate evaluation of anatomy and ventricular function after the Norwood procedure in hypoplastic left heart syndrome is important for treatment planning and prognostication, but echocardiography and cardiac MRI have limitations. To assess serial changes in anatomy and ventricular function on dual-source cardiac CT after the Norwood procedure for hypoplastic left heart syndrome. In 14 consecutive patients with hypoplastic left heart syndrome, end-systolic and end-diastolic phase cardiac dual-source CT was performed before and early (average: 1 month) after the Norwood procedure, and repeated late (median: 4.5 months) after the Norwood procedure in six patients. Ventricular functional parameters and indexed morphological measurements including pulmonary artery size, right ventricular free wall thickness, and ascending aorta size on cardiac CT were compared between different time points. Moreover, morphological features including ventricular septal defect, endocardial fibroelastosis and coronary ventricular communication were evaluated on cardiac CT. Right ventricular function and volumes remained unchanged (indexed end-systolic and end-diastolic volumes: 38.9±14.0 vs. 41.1±21.5 ml/m 2 , P=0.7 and 99.5±30.5 vs. 105.1±33.0 ml/m 2 , P=0.6; ejection fraction: 60.1±7.3 vs. 63.8±7.0%, P=0.1, and indexed stroke volume: 60.7±18.0 vs. 64.0±15.6 ml/m 2 , P=0.5) early after the Norwood procedure, but function was decreased (ejection fraction: 64.2±2.6 vs. 58.1±7.1%, P=0.01) and volume was increased (indexed end-systolic and end-diastolic volumes: 39.2±14.9 vs. 68.9±20.6 ml/m 2 , P<0.003 and 107.8±36.5 vs. 162.9±36.2 ml/m 2 , P<0.006, and indexed stroke volume: 68.6±21.7 vs. 94.0±21.3 ml/m 2 , P=0.02) later. Branch pulmonary artery size showed a gradual decrease without asymmetry after the Norwood procedure. Right and left pulmonary artery stenoses were identified in 21.4% (3/14) of the patients. Indexed right ventricular free wall thickness showed a

Colloid Adenocarcinoma of the Lung: CT and PET/CT Findings in Seven Patients.

PubMed

Kim, Han Kyul; Han, Joungho; Franks, Teri J; Lee, Kyung Soo; Kim, Tae Jung; Choi, Joon Young; Zo, Jaeil

2018-05-24

We aimed to assess CT and 18 F-FDG PET/CT findings of colloid adenocarcinoma of the lung in seven patients. From 2010 to 2017, seven patients with surgically proven colloid adenocarcinoma of the lung were identified. CT (both enhanced and unenhanced) and PET/CT findings were analyzed, and the imaging features were compared with histopathologic reports. Clinical and demographic features were also analyzed. In all cases except one, tumors showed low attenuation on unenhanced CT scans, ranging in attenuation from -16.5 to 20.7 HU (median, 9.2 HU). After contrast medium injection, enhancement was scant, so net enhancement ranged from 0.4 to 29.0 HU (median, 4.1 HU). All tumors had a lobulated contour. Stippled calcifications within the tumor were seen in one patient. The maximum standardized uptake value of tumors on PET/CT ranged from 1.5 to 4.5 (median, 3.5). In six of seven patients, FDG accumulation was seen in the tumor walls (n = 3, curvilinear uptake) or in both the tumor walls and tumor septa (n = 3, crisscross uptake). Six patients were alive without recurrence after a median follow-up period of 2.3 years (range, 2 months to 5 years). In one patient, who was alive at follow-up 4 years after imaging and had received adjuvant concurrent chemoradiation therapy after lobectomy, recurrent disease was detected 6 months after completion of the therapy. On CT, pulmonary colloid adenocarcinomas present as lobulated homogeneously low-attenuation tumors. At PET, curvilinear or crisscross FDG uptake is seen within the tumor where tumor cells are lining the walls or septal structures.

[Image fusion of gated-SPECT and CT angiography in coronary artery disease. Importance of anatomic-functional correlation].

PubMed

Nazarena Pizzi, M; Aguadé Bruix, S; Cuéllar Calabria, H; Aliaga, V; Candell Riera, J

2010-01-01

A 77-year old patient was admitted for acute coronary syndrome without ST elevation. His risk was stratified using the myocardial perfusion gated SPECT, mild inferior ischemia being observed. Thus, medical therapy was optimized and the patient was discharged. He continued with exertional dyspnea so a coronary CT angiography was performed. It revealed severe lesions in the proximal RCA. SPECT-CT fusion images correlated the myocardial perfusion defect with a posterior descending artery from the RCA, in a co-dominant coronary area. Subsequently, cardiac catheterism was indicated for his treatment. The current use of image fusion studies is limited to patients in whom it is difficult to attribute a perfusion defect to a specific coronary artery. In our patient, the fusion images helped to distinguish between the RCA and the circumflex artery as the culprit artery of ischemia. Copyright © 2010 Elsevier España, S.L. y SEMNIM. All rights reserved.

Lumbar spine CT scan

MedlinePlus

CAT scan - lumbar spine; Computed axial tomography scan - lumbar spine; Computed tomography scan - lumbar spine; CT - lower back ... CT scans rapidly makes detailed pictures of the lower back. The test may be used to look for: ...

Localisation of the gene for cylindromatosis (turban tumor syndrome) to chromosome 9p12-13

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wooster, R.; Mangion, J.; Quirk, Y.

Cylindromatosis (multiple cylindromas, tomato syndrome syndrome, turban tumor syndrome) is a rare autosomal dominant disease characterized by the development of multiple, slow growing neoplasms of the skin appendages. The tumors, known as dermal cylindromas, exhibit histological features of eccrine or apocrine sweat glands and occur most commonly in the scalp area. Genetic linkage analysis of two families yielded a maximum two point LOD score of 3.2 at D9S169. Critical recombinants place the gene between D9S161 and IFN, a distance of approximately 9 cM. This region of chromosome 9 harbors a gene that encodes a 16 kD protein which is anmore » inhibitor of cyclin dependent kinase 4 (CDK-4) and which is somatically mutated in many classes of cancer. However, the observation of recombinants between the disease and a polymorphic microsatellite repeat CT29 close to this gene, suggests that the CDK-4 inhibitor gene is unlikely to be responsible for cylindromatosis.« less

Churg–Strauss syndrome in a patient previously diagnosed with multiple sclerosis

PubMed Central

Sarkar, Pamela; Ibitoye, Richard Tolulope; Promnitz, Douglas Anthony

2011-01-01

A lady in her 70s with a background of multiple sclerosis (MS) and late-onset asthma was admitted with a 2-week history of cough and shortness of breath, progressive right-sided weakness and functional decline. Investigation revealed eosinophilia, elevated myeloperoxidase antineutrophil cytoplasmic antibody, CT sinuses showed long-standing inflammatory changes consistent with sinonasal polyposis and MRI head showed lesions consistent with vasculitis. She then developed left-sided weakness and increased wheeze. Review of her case notes demonstrated that, the eosinophilia was long-standing, her asthma was severe and steroid-dependent, and her neurologic syndrome was atypical for MS. Intravenous methylprednisolone then cyclophosphamide were administered. She demonstrated remarkable improvement, becoming more alert, with improvement in left-sided weakness. A diagnosis of Churg–Strauss syndrome was established. She was discharged to a nursing home with outpatient rheumatology follow-up. The diagnosis of MS was revisited. PMID:22679315

Sickle cell 'girdle syndrome' progressing to ischaemic colitis and colonic perforation.

PubMed

Qureshi, A; Lang, N; Bevan, D H

2006-02-01

Abdominal pain of presumed vasocclusive origin, often termed 'girdle syndrome' because of the circumferential distribution of the pain, is common in sickle cell anaemia (SCA). Evidence of progression to bowel infarction is rare. A 27-year-old man with SCA developed chest and abdominal pain unresponsive to opiate analgesia. Abdominal X-ray showed dilated bowel loops because of partial obstruction. Despite reduction of HbS to 23% by automated red cell exchange, abdominal pain worsened. A CT scan was the most informative investigation and showed free peritoneal air. He underwent emergency hemicolectomy and reversible ileostomy formation. Histology of the resected colon was consistent with acute ischaemic colitis. Early surgical intervention remains essential in SCA when abdominal pain does not respond to maximal therapy including red cell exchange: as this case illustrates, sickle girdle syndrome has the capacity to progress to irreversible ischaemic colitis and necrotic perforation of the bowel wall.

Cushing Syndrome: Diagnostic Workup and Imaging Features, With Clinical and Pathologic Correlation.

PubMed

Wagner-Bartak, Nicolaus A; Baiomy, Ali; Habra, Mouhammed Amir; Mukhi, Shalini V; Morani, Ajaykumar C; Korivi, Brinda R; Waguespack, Steven G; Elsayes, Khaled M

2017-07-01

Cushing syndrome (CS) is a constellation of clinical signs and symptoms resulting from chronic exposure to excess cortisol, either exogenous or endogenous. Exogenous CS is most commonly caused by administration of glucocorticoids. Endogenous CS is subdivided into two types: adrenocorticotropic hormone (ACTH) dependent and ACTH independent. Cushing disease, which is caused by a pituitary adenoma, is the most common cause of ACTH-dependent CS for which pituitary MRI can be diagnostic, with bilateral inferior petrosal sinus sampling useful in equivocal cases. In ectopic ACTH production, which is usually caused by a tumor in the thorax (e.g., small cell lung carcinoma, bronchial and thymic carcinoids, or medullary thyroid carcinoma) or abdomen (e.g., gastroenteropancreatic neuroendocrine tumors or pheochromocytoma), CT, MRI, and nuclear medicine tests are used for localizing the source of ACTH. In ACTH-independent CS, which is caused by various adrenal abnormalities, adrenal protocol CT or MRI is usually diagnostic.

Trigemino-autonomic headache and Horner syndrome as a first sign of granulomatous hypophysitis

PubMed Central

Kreitschmann-Andermahr, Ilonka; Fisse, Anna Lena; Börnke, Christian; Schroeder, Christoph; Pitarokoili, Kalliopi; Müller, Oliver; Lukas, Carsten; van de Nes, Johannes; Buslei, Rolf; Gold, Ralf; Ayzenberg, Ilya

2017-01-01

Objective: To report a rare case of incipient granulomatous hypophysitis presenting by atypical trigemino-autonomic cephalalgia (TAC) and Horner syndrome. Methods: The patient was investigated with repeated brain MRI, CSF examination, thoracic CT, Doppler and duplex ultrasound of the cerebral arteries, and extensive serologic screening for endocrine and autoimmune markers. Written informed consent was obtained from the patient for access to clinical files for research purposes and for publication. Results: We present a middle-aged woman with a history of an autoimmune pancreatitis type 2 who had therapy-refractory TAC with Horner syndrome. Initial cerebral MRI showed only indistinct and unspecific signs of a pathologic process. A biopsy revealed a granulomatous hypophysitis. The symptoms disappeared after transsphenoidal subtotal resection of the pituitary mass and anti-inflammatory therapy. Conclusions: This case elucidates that inflammatory pituitary diseases must be taken into account in case of atypical and refractory TAC, especially in patients with a history of autoimmune diseases. To our knowledge, the association between TAC accompanied by Horner syndrome and hypophysitis has not yet been described before. PMID:28243612

The occipitofrontal circumference: reliable prediction of the intracranial volume in children with syndromic and complex craniosynostosis.

PubMed

Rijken, Bianca Francisca Maria; den Ottelander, Bianca Kelly; van Veelen, Marie-Lise Charlotte; Lequin, Maarten Hans; Mathijssen, Irene Margreet Jacqueline

2015-05-01

OBJECT Patients with syndromic and complex craniosynostosis are characterized by the premature fusion of one or more cranial sutures. These patients are at risk for developing elevated intracranial pressure (ICP). There are several factors known to contribute to elevated ICP in these patients, including craniocerebral disproportion, hydrocephalus, venous hypertension, and obstructive sleep apnea. However, the causal mechanism is unknown, and patients develop elevated ICP even after skull surgery. In clinical practice, the occipitofrontal circumference (OFC) is used as an indirect measure for intracranial volume (ICV), to evaluate skull growth. However, it remains unknown whether OFC is a reliable predictor of ICV in patients with a severe skull deformity. Therefore, in this study the authors evaluated the relation between ICV and OFC. METHODS Eighty-four CT scans obtained in 69 patients with syndromic and complex craniosynostosis treated at the Erasmus University Medical Center-Sophia Children's Hospital were included. The ICV was calculated based on CT scans by using autosegmentation with an HU threshold < 150. The OFC was collected from electronic patient files. The CT scans and OFC measurements were matched based on a maximum amount of the time that was allowed between these examinations, which was dependent on age. A Pearson correlation coefficient was calculated to evaluate the correlations between OFC and ICV. The predictive value of OFC, age, and sex on ICV was then further evaluated using a univariate linear mixed model. The significant factors in the univariate analysis were subsequently entered in a multivariate mixed model. RESULTS The correlations found between OFC and ICV were r = 0.908 for the total group (p < 0.001), r = 0.981 for Apert (p < 0.001), r = 0.867 for Crouzon-Pfeiffer (p < 0.001), r = 0.989 for Muenke (p < 0.001), r = 0.858 for Saethre- Chotzen syndrome (p = 0.001), and r = 0.917 for complex craniosynostosis (p < 0.001). Age and OFC were

Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level

PubMed Central

Chen, Jan-Yow; Liu, Jiung-Hsiun; Wu, Hong-Dar Isaac; Lin, Kuo-Hung; Chang, Kuan-Cheng; Liou, Ying-Ming

2016-01-01

Background Familial sick sinus syndrome is associated with gene mutations and dysfunction of ion channels. In contrast, degenerative fibrosis of the sinus node tissue plays an important role in the pathogenesis of acquired sick sinus syndrome. There is a close relationship between transforming growth factor-β1 mediated cardiac fibrosis and acquired arrhythmia. It is of interest to examine whether transforming growth factor-β1 is involved in the pathogenesis of acquired sick sinus syndrome. Methods Overall, 110 patients with acquired SSS and 137 age/gender-matched controls were screened for transforming growth factor-β1 and cardiac sodium channel gene polymorphisms using gene sequencing or restriction fragment length polymorphism methods. An enzyme-linked immunosorbent assay was used to determine the serum level of transforming growth factor-β1. Results Two transforming growth factor-β1 gene polymorphisms (C-509T and T+869C) and one cardiac sodium channel gene polymorphism (H588R) have been identified. The C-dominant CC/CT genotype frequency of T869C was significantly higher in acquired sick sinus syndrome patients than in controls (OR 2.09, 95% CI 1.16–3.75, P = 0.01). Consistently, the level of serum transforming growth factor-β1 was also significantly greater in acquired sick sinus syndrome group than in controls (5.3±3.4 ng/ml vs. 3.7±2.4 ng/ml, P = 0.01). In addition, the CC/CT genotypes showed a higher transforming growth factor-β1 serum level than the TT genotype (4.25 ± 2.50 ng/ml vs. 2.71± 1.76 ng/ml, P = 0.028) in controls. Conclusion Transforming growth factor-β1 T869C polymorphism, correlated with high serum transforming growth factor-β1 levels, is associated with susceptibility to acquired sick sinus syndrome. PMID:27380173

Bilateral total hip arthroplasty in Morquio-Brailsford's syndrome: a report of two cases.

PubMed

Tassinari, Enrico; Boriani, Luca; Traina, Francesco; Dallari, Dante; Toni, Aldo; Giunti, Armando

2008-09-01

We report two cases of bilateral cementless total hip arthroplasty in two young women affected by Morquio-Brailsford syndrome. Morquio-Brailsford disease belongs to the mucopolysaccharidoses; it shows growth retardation with disproportional dwarfism. Usually patients are affected by a severe joint degeneration from their 2nd or 3rd decade. Young age, severe dysplasia, and joint size are the main technical problems for a total hip replacement. Accurate radiographic and CT planning allows the use of standard prostheses instead of custom-made ones.

Association of VDR-gene variants with factors related to the metabolic syndrome, type 2 diabetes and vitamin D deficiency.

PubMed

Al-Daghri, Nasser M; Al-Attas, Omar S; Alkharfy, Khalid M; Khan, Nasiruddin; Mohammed, Abdul Khader; Vinodson, Benjamin; Ansari, Mohammed Ghouse Ahmed; Alenad, Amal; Alokail, Majed S

2014-06-01

The prevalence of metabolic syndrome (MetS) is rising alarmingly in the Saudi Arabian population. This study was conducted to assess the association between vitamin D receptor (VDR) polymorphisms and genetic susceptibility to components of the metabolic syndrome, type 2 diabetes mellitus (T2DM), and vitamin D deficiency in the Saudi Arabian population. Five-hundred-seventy Saudi individuals (285 MetS and 285 controls) were enrolled in this cross-sectional study. TaqI, BsmI, ApaI and FokI single nucleotide polymorphisms (SNPs) of the VDR gene were genotyped. The CT genotype and allele T of BsmI were associated with lower HDL-C levels [OR 0.60 (0.37, 0.96), p=0.03] and obesity [OR 1.4 (1.0, 1.90), p=0.04], respectively. The CT genotype and the dominant model CT+TT of BsmI were associated with increased risk of diabetes [OR 1.7 (1.2, 2.4), p=0.007], and [OR 1.5 (1.1, 2.2), p=0.01], respectively. On the contrary, the CT and CT+CC genotypes of FokI exhibited an association with a reduced risk of diabetes [OR 0.70 (0.49, 0.99), p=0.05] and [OR 0.67 (0.48, 0.94), p=0.02], respectively. The allele C of FokI was associated with lower risk of developing T2DM [OR 0.73 (0.56, 0.95), p=0.02]. The prevalence of vitamin D deficiency was lower in subjects with the AC genotype of ApaI [OR, 0.34 (0.14, 0.80), p=0.01]. Components of the MetS such as obesity, low HDL and T2DM were associated with the VDR gene. FokI and BsmI have protective and facilitative effects on the risk for T2DM, while the ApaI genotype was associated with reduced vitamin D deficiency. Copyright © 2014 Elsevier B.V. All rights reserved.

PET/CT vs. non-contrast CT alone for surveillance 1-year post lobectomy for stage I non-small-cell lung cancer

PubMed Central

Dane, Bari; Grechushkin, Vadim; Plank, April; Moore, William; Bilfinger, Thomas

2013-01-01

18F-FDG PET/CT was compared with non-contrast chest CT in monitoring for recurrence 1-year after lobectomy of stage 1 non-small-cell lung cancer (NSCLC). For surveillance after treatment with curative intent, current (April 2012) National Comprehensive Cancer network guidelines recommend chest CT with or without contrast every 6-12 months for 2 years, then non-contrast chest CT annually. PET/CT is not currently indicated for routine follow-up. One hundred patients receiving surveillance PET/CT 1-year after lobectomy for the treatment of stage 1a or 1b NSCLC were included in the study. Exclusion criteria included the presence or interval diagnosis of a second malignancy, or surgical treatment more radical than single lobectomy. The non-contrast CT obtained from the 1-year PET/CT was interpreted by an experienced chest radiologist blinded to the PET/CT for evidence of recurrence using the following findings: pulmonary nodule, pleural effusion, pleural mass, adenopathy, and extrathoracic mass. The ecision about recurrence was made solely from the non-contrast CT without PET/CT findings. This was compared with the determination made with PET/CT. The reference standard for determination of recurrence was the multi-disciplinary tumor board who had access to all imaging and clinical data. Recurrence at 1 year was documented in 16 of 90 patients. All 16 recurrences were documented with PET/CT and 9 were found with non-contrast CT. Five of the 7 recurrences missed with non-contrast CT were extrathoracic metastases. Sensitivity of CT and PET/CT for recurrence was 56.3% and 100%, respectively (p = 0.015). Specificity of CT and PET/CT for recurrence was 95.9% and 93.2%, respectively (p = 0.62). PMID:24116349

68Ga-PSMA-PET/CT in Patients With Biochemical Prostate Cancer Recurrence and Negative 18F-Choline-PET/CT.

PubMed

Bluemel, Christina; Krebs, Markus; Polat, Bülent; Linke, Fränze; Eiber, Matthias; Samnick, Samuel; Lapa, Constantin; Lassmann, Michael; Riedmiller, Hubertus; Czernin, Johannes; Rubello, Domenico; Bley, Thorsten; Kropf, Saskia; Wester, Hans-Juergen; Buck, Andreas K; Herrmann, Ken

2016-07-01

Investigating the value of Ga-PSMA-PET/CT in biochemically recurring prostate cancer patients with negative F-choline-PET/CT. One hundred thirty-nine consecutive patients with biochemical recurrence after curative (surgery and/or radiotherapy) therapy were offered participation in this sequential clinical imaging approach. Patients first underwent an F-choline-PET/CT. If negative, an additional Ga-PSMA-PET/CT was offered. One hundred twenty-five of 139 eligible patients were included in the study; 32 patients underwent additional Ga-PSMA-PET/CT. Patients with equivocal findings (n = 5) on F-choline-PET/CT and those who declined the additional Ga-PSMA-PET/CT (n = 9) were excluded. Images were analyzed visually for the presence of suspicious lesions. Findings on PET/CT were correlated with PSA level, PSA doubling time (dt), and PSA velocity (vel). The overall detection rates were 85.6% (107/125) for the sequential imaging approach and 74.4% (93/125) for F-choline-PET/CT alone. Ga-PSMA-PET/CT detected sites of recurrence in 43.8% (14/32) of the choline-negative patients. Detection rates of the sequential imaging approach and F-choline-PET/CT alone increased with higher serum PSA levels and PSA vel. Subgroup analysis of Ga-PSMA-PET/CT in F-choline negative patients revealed detection rates of 28.6%, 45.5%, and 71.4% for PSA levels of 0.2 or greater to less than 1 ng/mL, 1 to 2 ng/mL, and greater than 2 ng/mL, respectively. The sequential imaging approach designed to limit Ga-PSMA imaging to patients with negative choline scans resulted in high detection rates. Ga-PSMA-PET/CT identified sites of recurrent disease in 43.8% of the patients with negative F-choline PET/CT scans.

CT vaginography: a new CT technique for imaging of upper and middle vaginal fistulas.

PubMed

Botsikas, Diomidis; Pluchino, Nicola; Kalovidouri, Anastasia; Platon, Alexandra; Montet, Xavier; Dallenbach, Patrick; Poletti, Pierre-Alexandre

2017-05-01

Different types of vaginal fistulas is a relatively uncommon condition in the Western world but very frequent in developing countries. In the past, conventional vaginography was the radiological examination of choice for exploring this condition. CT and MRI are now both used for this purpose. Our objective was to test the feasibility and to explore the potential role of a new CT imaging technique implementing vaginal introitus obstruction and opacification of the vagina with iodine contrast agent, to show patency of a fistula. We describe the technical protocol of CT-vaginography as performed in Geneva University Hospitals, including vaginal catheterization with a Foley catheter and obstruction of the introitus by inflating the balloon of the catheter. We also report three cases of patients with suspected vaginal fistula who underwent CT-vaginography. The examinations were technically successful. In one patient, it revealed the presence of fistulous pathways from the vaginal fornix along the bilateral infected surgical prostheses. In a second patient, it showed a fistula between the vagina and the necrotic cavity of a recurrent cervical cancer. In a third patient, it proved the absence of a suspected vaginal fistula. CT-vaginography is a technically feasible CT protocol that provides anatomical and functional information on clinically suspected vaginal fistulas. Advances in knowledge: After the abandon of conventional vaginography in the era of transaxial imaging, the current modalities of imaging vaginal fistulas provide excellent anatomical detail but less functional information concerning the permeability of a vaginal fistulous pathway. We propose the use of CT-vaginography, a technical protocol that we describe in detail.

Understanding Bartter syndrome and Gitelman syndrome.

PubMed

Fremont, Oliver T; Chan, James C M

2012-02-01

We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

Effectiveness of Exercise- and Cognitive-Based Treatments on Salivary Cortisol Levels and Sundowning Syndrome Symptoms in Patients with Alzheimer's Disease.

PubMed

Venturelli, Massimo; Sollima, Alessio; Cè, Emiliano; Limonta, Eloisa; Bisconti, Angela V; Brasioli, Anna; Muti, Ettore; Esposito, Fabio

2016-07-14

Sundowning syndrome (SDS) in patients with Alzheimer's disease (AD) is characterized by the intensification of behavioral disorders at sunset. Despite SDS etiology being unclear, a strong relationship between high cortisol levels and SDS has been reported. Aerobic exercise (AE) and cognitive training (CT) can reduce cortisol levels. However, whether SDS would benefit from AE and CT is still unknown. Therefore, the aim of this study was to investigate whether AE and CT treatments are effective in reducing SDS via downregulation of cortisol levels. The possible additive effects of combined AE+CT were also assessed. Eighty AD patients were randomly assigned to AE (n = 20), CT (n = 20), AE+CT (n = 20), and standard therapy (no treatment, NT; n = 20). Treatments were administered for 3 months, 5 days/week, 1 hour before sunset. Before and after treatments, salivary cortisol levels were sampled at 7, 11, 15, at sunset, and 20 (time of day). Blind assessment of behavioral disorders (neuropsychiatric inventory, NPI) and agitation (agitated behavior scale, ABS) were also performed. After interventions, cortisol levels were reduced in AE and AE+CT by ∼26%. In the same groups, NPI and ABS decreased by ∼50%. By contrast, cortisol and behavioral disorders were similar to baseline in CT and NT. Changes in NPI and ABS were significantly correlated with the reduction in cortisol levels. AE or AE+CT effects on SDS and cortisol levels and the lack of effect of CT alone indicate the effectiveness of an exercise-based treatment on SDS, suggesting a possible hypothalamic-pituitary-adrenal axis dysregulation underpinning SDS.

CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms

PubMed Central

Scala, E; Ariani, F; Mari, F; Caselli, R; Pescucci, C; Longo, I; Meloni, I; Giachino, D; Bruttini, M; Hayek, G; Zappella, M; Renieri, A

2005-01-01

Background: Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterised by a wide spectrum of clinical manifestations. Both the classic form and preserved speech variant of Rett syndrome are due to mutations in the MECP2 gene. Several other variants of Rett syndrome have been described. In 1985, Hanefeld described a variant with the early appearance of convulsions. In this variant, the normal perinatal period is soon followed by the appearance of seizures, usually infantile spasms. We have observed two patients with signs of Rett syndrome showing acquired microcephaly and stereotypic midline hand movements. The disease started with generalised convulsions and myoclonic fits at 1.5 months in the first patient and with spasms at 10 days in the other, suggesting a diagnosis of the Hanefeld variant. In these patients, MECP2 point mutations and gross rearrangements were excluded by denaturing high performance liquid chromatography and real time quantitative PCR. The ARX and CDKL5 genes have been associated with West syndrome (infantile spasms, hypsarrhythmia, and mental retardation). Methods: Based on the clinical overlap between the Hanefeld variant and West syndrome, we analysed ARX and CDKL5 in the two girls. Results: We found frameshift deletions in CDKL5 in both patients; one in exon 5 (c.163_166delGAAA) and the other in exon 18 (c.2635_2636delCT). CDKL5 was then analysed in 19 classic Rett and 15 preserved speech variant patients, all MECP2 negative, but no mutations were found. Conclusion: Our results show that CDKL5 is responsible for a rare variant of Rett syndrome characterised by early development of convulsions, usually of the spasm type. PMID:15689447

Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome: MRI features of intraosseous fat necrosis involving the feet and knees.

PubMed

Kang, Dong Joo; Lee, Sun Joo; Choo, Hye Jung; Her, Minyoung; Yoon, Hye Kyoung

2017-02-01

Pancreatitis, panniculitis, and polyarthritis (PPP) syndrome is extremely rare and presents as a triad of the three diseases. The patient usually presents with mild or absent abdominal symptoms. Here, we report on a case of a 66-year-old male who presented with pain and swelling in both legs and mild abdominal pain. He was diagnosed with acute pancreatitis by pancreatic enzyme analysis and abdominal computed tomography (CT) and with skin lesions of panniculitis through a biopsy. Magnetic resonance imaging (MRI) revealed multifocal intraosseous fat necrosis and arthritis involving both the feet and the knees. Therefore, we report a case of PPP syndrome with intraosseous fat necrosis involving both the feet and the knees.

Acquiring 4D Thoracic CT Scans Using Ciné CT Acquisition

NASA Astrophysics Data System (ADS)

Low, Daniel

One method for acquiring 4D thoracic CT scans is to use ciné acquisition. Ciné acquisition is conducted by rotating the gantry and acquiring x-ray projections while keeping the couch stationary. After a complete rotation, a single set of CT slices, the number corresponding to the number of CT detector rows, is produced. The rotation period is typically sub second so each image set corresponds to a single point in time. The ciné image acquisition is repeated for at least one breathing cycle to acquire images throughout the breathing cycle. Once the images are acquired at a single couch position, the couch is moved to the abutting position and the acquisition is repeated. Post-processing of the images sets typically resorts the sets into breathing phases, stacking images from a specific phase to produce a thoracic CT scan at that phase. Benefits of the ciné acquisition protocol include, the ability to precisely identify the phase with respect to the acquired image, the ability to resort images after reconstruction, and the ability to acquire images over arbitrarily long times and for arbitrarily many images (within dose constraints).

Mutations in the Na+/Citrate Cotransporter NaCT (SLC13A5) in Pediatric Patients with Epilepsy and Developmental Delay

PubMed Central

Klotz, Jenna; Porter, Brenda E; Colas, Claire; Schlessinger, Avner; Pajor, Ana M

2016-01-01

Mutations in the SLC13A5 gene that codes for the Na+/citrate cotransporter, NaCT, are associated with early onset epilepsy, developmental delay and tooth dysplasia in children. In this study, we identify additional SLC13A5 mutations in nine epilepsy patients from six families. To better characterize the syndrome, families with affected children answered questions about the scope of illness and the treatment strategies. Currently, there are no effective treatments, but some antiepileptic drugs targeting the γ-aminobutyric acid system reduce seizure frequency. Acetazolamide, a carbonic anhydrase inhibitor and atypical antiseizure medication, decreases seizures in four patients. In contrast to previous reports, the ketogenic diet and fasting resulted in worsening of symptoms. The effects of the mutations on NaCT transport function and protein expression were examined by transient transfections of COS-7 cells. There was no transport activity from any of the mutant transporters, although some of the mutant transporter proteins were present on the plasma membrane. The structural model of NaCT suggests that these mutations can affect helix packing or substrate binding. We tested various treatments, including chemical chaperones and low temperatures, but none improved transport function in the NaCT mutants. Interestingly, coexpression of NaCT and the mutants results in decreased protein expression and activity of the wild-type transporter, indicating functional interaction. In conclusion, this study has identified additional SLC13A5 mutations in patients with chronic epilepsy starting in the neonatal period, with the mutations producing inactive Na+/citrate transporters. PMID:27261973

Idiopathic subvalvular aortic aneurysm masquerading as acute coronary syndrome.

PubMed

Natarajan, Balaji; Ramanathan, Sundar; Subramaniam, Natarajan; Janardhanan, Rajesh

2016-09-02

Subvalvular aneurysms are the least common type of left ventricular (LV) aneurysms and can be fatal. Subaortic LV aneurysms are much rarer than submitral LV aneurysms and mostly reported in infancy. They can be congenital or acquired secondary to infections, cardiac surgery or trauma. Here, we report a unique presentation of a large, idiopathic subaortic aneurysm in an adult masquerading as an acute coronary syndrome. Diagnosis was made with the help of a CT aortography. Aneurysm was surgically resected with good results. This case highlights the clinical presentation and management of subaortic aneurysms, an important differential for congenital aortic malformations. 2016 BMJ Publishing Group Ltd.

Relationship between interleukin-1β and depressive disorder after acute coronary syndrome.

PubMed

Kang, Hee-Ju; Bae, Kyung-Yeol; Kim, Sung-Wan; Shin, Il-Seon; Hong, Young Joon; Ahn, Youngkeun; Jeong, Myung Ho; Yoon, Jin-Sang; Kim, Jae-Min

2017-01-04

This study was aimed to investigate the effect of serum interleukin (IL)-1β in the depression trajectory after acute coronary syndrome (ACS) considering two IL-1β polymorphisms: -511C/T or +3953C/T. A total of 969 patients were evaluated within 2weeks after ACS and of these, 711 were followed-up 1year later. Depressive disorders were evaluated at baseline and 1year after ACS, using the Mini-International Neuropsychiatric Interview. Serum IL-1β levels and IL-1β genotypes were investigated at baseline. Covariates on socio-demographic and clinical characteristics including depressive symptoms, cardiovascular risk factors, and current cardiac status were assessed. Depression during the acute ACS was significantly associated with the IL-1β levels and the -511T allele. The interaction of the IL-1β level with depression at baseline in the presence of the -511T allele was also significant. No associations were found with depression during the chronic ACS. For the +3953C/T genotype, there was no association with depression in either the acute or chronic phase. The IL-1β level and -511C/T genotype, separately or interactively, could be a biomarker for depressive disorder in the acute phase of ACS. Focused interventions for those with higher IL-1β level and -511T allele might reduce the risk of depressive disorder. Copyright © 2016 Elsevier Inc. All rights reserved.

Detectability index of differential phase contrast CT compared with conventional CT: a preliminary channelized Hotelling observer study

NASA Astrophysics Data System (ADS)

Tang, Xiangyang; Yang, Yi; Tang, Shaojie

2013-03-01

Under the framework of model observer with signal and background exactly known (SKE/BKE), we investigate the detectability of differential phase contrast CT compared with that of the conventional attenuation-based CT. Using the channelized Hotelling observer and the radially symmetric difference-of-Gaussians channel template , we investigate the detectability index and its variation over the dimension of object and detector cells. The preliminary data show that the differential phase contrast CT outperforms the conventional attenuation-based CT significantly in the detectability index while both the object to be detected and the cell of detector used for data acquisition are relatively small. However, the differential phase contrast CT's dominance in the detectability index diminishes with increasing dimension of either object or detector cell, and virtually disappears while the dimension of object or detector cell approaches a threshold, respectively. It is hoped that the preliminary data reported in this paper may provide insightful understanding of the differential phase contrast CT's characteristic in the detectability index and its comparison with that of the conventional attenuation-based CT.

Establishing a successful coronary CT angiography program in the emergency department: official writing of the Fellow and Resident Leaders of the Society of Cardiovascular Computed Tomography (FiRST).

PubMed

Maroules, Christopher D; Blaha, Michael J; El-Haddad, Mohamed A; Ferencik, Maros; Cury, Ricardo C

2013-01-01

Coronary CT angiography is an effective, evidence-based strategy for evaluating acute chest pain in the emergency department for patients at low-to-intermediate risk of acute coronary syndrome. Recent multicenter trials have reported that coronary CT angiography is safe, reduces time to diagnosis, facilitates discharge, and may lower overall cost compared with routine care. Herein, we provide a 10-step approach for establishing a successful coronary CT angiography program in the emergency department. The importance of strategic planning and multidisciplinary collaboration is emphasized. Patient selection and preparation guidelines for coronary CT angiography are reviewed with straightforward protocols that can be adapted and modified to clinical sites, depending on available cardiac imaging capabilities. Technical parameters and patient-specific modifications are also highlighted to maximize the likelihood of diagnostic quality examinations. Practical suggestions for quality control, process monitoring, and standardized reporting are reviewed. Finally, the role of a "triple rule-out" protocol is featured in the context of acute chest pain evaluation in the emergency department. Copyright © 2013 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

CT artifact recognition for the nuclear technologist.

PubMed

Popilock, Robert; Sandrasagaren, Kumar; Harris, Lowell; Kaser, Keith A

2008-06-01

The goal of this article is to make the PET/CT and SPECT/CT operator aware of common artifacts found in CT. In diagnostic imaging, the ability to render an accurate diagnosis requires the technologist to take steps to optimize image quality and recognize when image quality has been compromised-that is, when there is an image artifact. One way these artifacts occur is through the inability of the CT linear attenuation image to precisely represent the linear attenuation map of a 2-dimensional section through the body. The reasons for this inability are multifold. First, CT is subject to the laws of x-ray quantum physics resulting in noise in all CT images. Moreover, all current CT x-ray systems generate a spectrum of energies. Also, CT scanners use detectors of finite dimension, as are the x-ray focal spots; reconstruct images from a finite number of samples distributed over a finite number of views; and acquire the data for each reconstruction over a finite period.

Accuracy of CT-based attenuation correction in PET/CT bone imaging

NASA Astrophysics Data System (ADS)

Abella, Monica; Alessio, Adam M.; Mankoff, David A.; MacDonald, Lawrence R.; Vaquero, Juan Jose; Desco, Manuel; Kinahan, Paul E.

2012-05-01

We evaluate the accuracy of scaling CT images for attenuation correction of PET data measured for bone. While the standard tri-linear approach has been well tested for soft tissues, the impact of CT-based attenuation correction on the accuracy of tracer uptake in bone has not been reported in detail. We measured the accuracy of attenuation coefficients of bovine femur segments and patient data using a tri-linear method applied to CT images obtained at different kVp settings. Attenuation values at 511 keV obtained with a 68Ga/68Ge transmission scan were used as a reference standard. The impact of inaccurate attenuation images on PET standardized uptake values (SUVs) was then evaluated using simulated emission images and emission images from five patients with elevated levels of FDG uptake in bone at disease sites. The CT-based linear attenuation images of the bovine femur segments underestimated the true values by 2.9 ± 0.3% for cancellous bone regardless of kVp. For compact bone the underestimation ranged from 1.3% at 140 kVp to 14.1% at 80 kVp. In the patient scans at 140 kVp the underestimation was approximately 2% averaged over all bony regions. The sensitivity analysis indicated that errors in PET SUVs in bone are approximately proportional to errors in the estimated attenuation coefficients for the same regions. The variability in SUV bias also increased approximately linearly with the error in linear attenuation coefficients. These results suggest that bias in bone uptake SUVs of PET tracers ranges from 2.4% to 5.9% when using CT scans at 140 and 120 kVp for attenuation correction. Lower kVp scans have the potential for considerably more error in dense bone. This bias is present in any PET tracer with bone uptake but may be clinically insignificant for many imaging tasks. However, errors from CT-based attenuation correction methods should be carefully evaluated if quantitation of tracer uptake in bone is important.

Medipix-based Spectral Micro-CT.

PubMed

Yu, Hengyong; Xu, Qiong; He, Peng; Bennett, James; Amir, Raja; Dobbs, Bruce; Mou, Xuanqin; Wei, Biao; Butler, Anthony; Butler, Phillip; Wang, Ge

2012-12-01

Since Hounsfield's Nobel Prize winning breakthrough decades ago, X-ray CT has been widely applied in the clinical and preclinical applications - producing a huge number of tomographic gray-scale images. However, these images are often insufficient to distinguish crucial differences needed for diagnosis. They have poor soft tissue contrast due to inherent photon-count issues, involving high radiation dose. By physics, the X-ray spectrum is polychromatic, and it is now feasible to obtain multi-energy, spectral, or true-color, CT images. Such spectral images promise powerful new diagnostic information. The emerging Medipix technology promises energy-sensitive, high-resolution, accurate and rapid X-ray detection. In this paper, we will review the recent progress of Medipix-based spectral micro-CT with the emphasis on the results obtained by our team. It includes the state- of-the-art Medipix detector, the system and method of a commercial MARS (Medipix All Resolution System) spectral micro-CT, and the design and color diffusion of a hybrid spectral micro-CT.

Anatomy and function: PET-CT.

PubMed

Kajander, Sami; Saraste, Antti; Ukkonen, Heikki; Knuuti, Juhani

2010-05-01

CT coronary angiography and perfusion PET form an attractive combination to study coronary artery lesions and their consequences in patients with coronary artery disease. Whereas CT provides non-invasive assessment of coronary lumen and wall, PET perfusion is a reliable method for the evaluation of myocardial flow. CT, although very capable of ruling out significant coronary artery disease, is less than satisfactory in assessing the actual significance of the detected lesions. PET imaging, despite its excellent sensitivity, fails to describe the exact anatomy of the epicardial vessels. By fusing image data from these two modalities, lesions can be accurately correlated with their physiological or anatomical counterparts. Hybrid PET-CT devices, now in wide clinical use, allow such fusion in a one-stop-shop study. Although still seeking its place in clinical scenarios, growing evidence suggests that hybrid PET-CT imaging of coronary anatomy and myocardial perfusion can accurately - and non-invasively - assess the existence and degree of coronary artery disease.

Conventional and Nuclear Medicine Imaging in Ectopic Cushing's Syndrome: A Systematic Review

PubMed Central

Isidori, Andrea M.; Sbardella, Emilia; Zatelli, Maria Chiara; Boschetti, Mara; Vitale, Giovanni; Colao, Annamaria

2015-01-01

Context: Ectopic Cushing's Syndrome (ECS) can be a diagnostic challenge with the hormonal source difficult to find. This study analyzes the accuracy of imaging studies in ECS localization. Evidence Acquisition: Systematic review of medical literature for ECS case series providing individual patient data on at least one conventional imaging technique (computed tomography [CT]/magnetic resonance imaging) and one of the following: 111In-pentetreotide (OCT), 131I/123I-metaiodobenzylguanidine, 18F-fluoro-2-deoxyglucose-positron emission tomography (FDG-PET), 18F-fluorodopa-PET (F-DOPA-PET), 68Ga-DOTATATE-PET/CT or 68Ga-DOTATOC-PET/CT scan (68Gallium-SSTR-PET/CT). Evidence Summary: The analysis comprised 231 patients (females, 50.2%; age, 42.6 ± 17 y). Overall, 52.4% (121/231) had “overt” ECS, 18.6% had “occult” ECS, and 29% had “covert” ECS. Tumors were located in the lung (55.3%), mediastinum-thymus (7.9%), pancreas (8.5%), adrenal glands (6.4%), gastrointestinal tract (5.4%), thyroid (3.7%), and other sites (12.8%), and primary tumors were mostly bronchial neuroendocrine tumors (NETs) (54.8%), pancreatic NETs (8%), mediastinum-thymus NETs (6.9%), gastrointestinal NETs (5.3%), pheochromocytoma (6.4%), neuroblastoma (3.2%), and medullary thyroid carcinoma (3.2%). Tumors were localized by CT in 66.2% (137/207), magnetic resonance imaging in 51.5% (53/103), OCT in 48.9% (84/172), FDG-PET in 51.7% (46/89), F-DOPA-PET in 57.1% (12/21), 131/123I-metaiodobenzylguanidine in 30.8% (4/13), and 68Gallium-SSTR-PET/CT in 81.8% (18/22) of cases. Molecular imaging discovered 79.1% (53/67) of tumors unidentified by conventional radiology, with OCT the most commonly used, revealing the tumor in 64%, followed by FDG-PET in 59.4%. F-DOPA-PET was used in only seven covert cases (sensitivity, 85.7%). Notably, 68Gallium-SSTR-PET/CT had 100% sensitivity among covert cases. Conclusions: Nuclear medicine improves the sensitivity of conventional radiology when tumor site

RS3PE Syndrome with Iliopsoas Bursitis Distinguished from an Iliopsoas Abscess Using a CT-guided Puncture.

PubMed

Fukui, Shoichi; Iwamoto, Naoki; Tsuji, Sosuke; Umeda, Masataka; Nishino, Ayako; Nakashima, Yoshikazu; Suzuki, Takahisa; Horai, Yoshiro; Koga, Tomohiro; Kawashiri, Shin-ya; Ichinose, Kunihiro; Hirai, Yasuko; Tamai, Mami; Nakamura, Hideki; Origuchi, Tomoki; Kawakami, Atsushi

2015-01-01

A 55-year-old man was diagnosed with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome. Contrast-enhanced computed tomography for cancer screening showed a mass with low-density centers with an enhanced rim in the left iliopsoas muscle. We suspected an iliopsoas abscess and performed computed-tomography-guided puncture of the mass. Both Gram staining and the culture of the fluid were negative. We diagnosed the patient with RS3PE syndrome with iliopsoas bursitis and administered low-dose corticosteroids without antibiotics. The symptoms, including left hip pain, quickly disappeared following treatment. Clinicians should be aware that iliopsoas bursitis may resemble an iliopsoas abscess. As a result, it is important to make an accurate differential diagnosis.

Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning.

PubMed

Al Kaissi, Ali; Ben Chehida, Farid; Ben Ghachem, Maher; Klaushofer, Klaus; Grill, Franz

2008-06-01

A study on a pair of male sibs to reach for the etiological understanding of unusual skull base/spine maldevelopment. Previously, radiographs alone were used to formulate this diagnosis. Here, three-dimensional computed tomography (3D CT) studies further clarified the typical diagnostic findings associated with spondylocostal dysostosis (SCD). Interestingly, patients with SCD are at increased risk for diffuse skull base/cervical fusion syndromes and can result in severe neurologic deficits associated with any degree of trauma. Classically SCD is defined as a skeletal dysplasia with clinical and radiologic manifestations, consisting of short neck and trunk, nonprogressive scoliosis and abnormalities of vertebral segmentation and of the ribs. Radiograms have been adopted as the only modality for the classification and prognostication of patients with SCD. Detailed clinical and radiographic examinations were undertaken with emphasis on the significance of the 3D CT scanning. We observed extensive fusion of the clivus with the cervical/entire spine, resulting in a remarkable solid, immobile, and fixed bony ankylosis of extremely serious outcome. Patients with spondylcostal dysostosis are predisposed to develop extensive skull-base-cervical spine fusion. The latter might lead to the development of a solid, immobile, and fixed bony ankylosis. In children/adults trivial injuries and/or high-energy trauma can lead to serious intracranial and spinal cord injury. Comprehensive orthopedic and neurosurgeons management must follow the recognition of these anomalies. To the best of our knowledge, no previous CT studies of the spine have been published in patients with SCD.

Complications in CT-guided procedures: do we really need postinterventional CT control scans?

PubMed

Nattenmüller, Johanna; Filsinger, Matthias; Bryant, Mark; Stiller, Wolfram; Radeleff, Boris; Grenacher, Lars; Kauczor, Hans-Ullrich; Hosch, Waldemar

2014-02-01

The aim of this study is twofold: to determine the complication rate in computed tomography (CT)-guided biopsies and drainages, and to evaluate the value of postinterventional CT control scans. Retrospective analysis of 1,067 CT-guided diagnostic biopsies (n = 476) and therapeutic drainages (n = 591) in thoracic (n = 37), abdominal (n = 866), and musculoskeletal (ms) (n = 164) locations. Severity of any complication was categorized as minor or major. To assess the need for postinterventional CT control scans, it was determined whether complications were detected clinically, on peri-procedural scans or on postinterventional scans only. The complication rate was 2.5 % in all procedures (n = 27), 4.4 % in diagnostic punctures, and 1.0 % in drainages; 13.5 % in thoracic, 2.0 % in abdominal, and 3.0 % in musculoskeletal procedures. There was only 1 major complication (0.1 %). Pneumothorax (n = 14) was most frequent, followed by bleeding (n = 9), paresthesia (n = 2), material damage (n = 1), and bone fissure (n = 1). Postinterventional control acquisitions were performed in 65.7 % (701 of 1,067). Six complications were solely detectable in postinterventional control acquisitions (3 retroperitoneal bleeds, 3 pneumothoraces); all other complications were clinically detectable (n = 4) and/or visible in peri-interventional controls (n = 21). Complications in CT-guided interventions are rare. Of these, thoracic interventions had the highest rate, while pneumothoraces and bleeding were most frequent. Most complications can be detected clinically or peri-interventionally. To reduce the radiation dose, postinterventional CT controls should not be performed routinely and should be restricted to complicated or retroperitoneal interventions only.

Rotational injury of cervical facets: CT analysis of fracture patterns with implications for management and neurologic outcome.

PubMed

Shanmuganathan, K; Mirvis, S E; Levine, A M

1994-11-01

Imaging studies of patients with rotational facet injuries of the cervical spine were retrospectively reviewed to determine the prevalence and pattern of associated fractures, to correlate injury pattern with recommended surgical stabilization, and to assess neurologic outcome. Radiographs and CT scans obtained for 40 consecutive patients with rotational facet injuries of the cervical spine during a 70-month period were retrospectively reviewed to determine injury level, presence, and orientation of facet fractures, and concurrent nonfacet injuries. Imaging findings were reviewed to assess the likelihood of instability and to determine the most appropriate stabilization requirement. Medical records were reviewed to ascertain mechanism of injury, initial neurologic deficit, and surgical findings. Among the 40 patients with cervical rotational facet injuries, 11 (27%) had pure unilateral facet dislocation or subluxation without associated fractures, and 29 (73%) had concurrent facet fractures involving the inferior facet of the rotated vertebra (n = 13), the superior facet of the subjacent vertebra (n = 9), or both (n = 7). Injury of the rotated vertebra was unilateral in 22 patients but bilateral in 18 patients. Facet fractures frequently extended into the ipsilateral lamina or articular pillar or both. An avulsion fracture from the posteroinferior aspect of the rotated vertebral body, indicating disk disruption, occurred in 10 patients (25%), and seven patients (17%) had complete isolation of an articular pillar. Facet fractures were confirmed for 27 patients who underwent surgical stabilization. Neurologic deficits developed in 29 (73%) of the 40 patients and included radiculopathy in 11 patients and cord syndromes in 18 patients. Pure dislocation without a facet fracture was more likely to lead to a cord syndrome (p = .006). Cervical rotational facet injuries are often accompanied by facet fractures and bilateral damage of the rotated vertebra. These injuries

CT Scans - Multiple Languages

MedlinePlus

... Tomography) Scan - العربية (Arabic) Bilingual PDF Health Information Translations Chinese, Simplified (Mandarin dialect) (简体中文) Expand Section CT ( ... Chinese, Simplified (Mandarin dialect)) Bilingual PDF Health Information Translations Chinese, Traditional (Cantonese dialect) (繁體中文) Expand Section CT ( ...

[Two cases of afferent loop syndrome caused by obstruction at the jejuno-jejunostomy site in the Roux-en-Y loop that were successfully treated by endoscopic balloon dilatation].

PubMed

Yasuda, Atsushi; Imamoto, Haruhiko; Furukawa, Hiroshi; Imano, Motohiro; Yasuda, Takushi; Okuno, Kiyokata

2014-11-01

We report 2 rare cases of afferent loop syndrome caused by obstruction at the jejuno-jejunostomy site in the Roux-en-Y loop after total gastrectomy, which was successfully treated by endoscopic balloon dilatation of the anastomotic stenosis. Case 1: A 62-year-old woman presented with malaise and lower abdominal distension 6 months after laparoscopy-assisted total gastrectomy with Roux-en-Y reconstruction. She was diagnosed with afferent loop syndrome; CT imaging indicated marked dilatation of the afferent loop, with membranous obstruction at the jejuno-jejunostomy site in the Roux-en-Y loop. Although almost complete occlusion was noted at the jejuno-jejunostomy site, the obstruction was successfully relieved by endoscopic balloon dilation using TandemTM XL Triple Lumen ERCP Cannula (Boston Scientific)®. Case 2: A 70-year-old man presented with malaise and lower abdominal distension 3 years after laparoscopy-assisted total gastrectomy with Roux-en-Y reconstruction. He was diagnosed with afferent loop syndrome; CT imaging indicated complete obstruction at the jejuno-jejunostomy site in the Roux-en-Y loop. As in case 1, the obstruction was successfully treated by endoscopic balloon dilatation of the occluded anastomosis.

Neuroleptic Malignant Syndrome

MedlinePlus

... 55 Kenosia Avenue Danbury CT Danbury, CT 06810 orphan@rarediseases.org http://rarediseases.org Tel: 203-744- ... 55 Kenosia Avenue Danbury CT Danbury, CT 06810 orphan@rarediseases.org http://rarediseases.org Tel: 203-744- ...

Predicting tumor hypoxia in non-small cell lung cancer by combining CT, FDG PET and dynamic contrast-enhanced CT.

PubMed

Even, Aniek J G; Reymen, Bart; La Fontaine, Matthew D; Das, Marco; Jochems, Arthur; Mottaghy, Felix M; Belderbos, José S A; De Ruysscher, Dirk; Lambin, Philippe; van Elmpt, Wouter

2017-11-01

Most solid tumors contain inadequately oxygenated (i.e., hypoxic) regions, which tend to be more aggressive and treatment resistant. Hypoxia PET allows visualization of hypoxia and may enable treatment adaptation. However, hypoxia PET imaging is expensive, time-consuming and not widely available. We aimed to predict hypoxia levels in non-small cell lung cancer (NSCLC) using more easily available imaging modalities: FDG-PET/CT and dynamic contrast-enhanced CT (DCE-CT). For 34 NSCLC patients, included in two clinical trials, hypoxia HX4-PET/CT, planning FDG-PET/CT and DCE-CT scans were acquired before radiotherapy. Scans were non-rigidly registered to the planning CT. Tumor blood flow (BF) and blood volume (BV) were calculated by kinetic analysis of DCE-CT images. Within the gross tumor volume, independent clusters, i.e., supervoxels, were created based on FDG-PET/CT. For each supervoxel, tumor-to-background ratios (TBR) were calculated (median SUV/aorta SUV mean ) for HX4-PET/CT and supervoxel features (median, SD, entropy) for the other modalities. Two random forest models (cross-validated: 10 folds, five repeats) were trained to predict the hypoxia TBR; one based on CT, FDG, BF and BV, and one with only CT and FDG features. Patients were split in a training (trial NCT01024829) and independent test set (trial NCT01210378). For each patient, predicted, and observed hypoxic volumes (HV) (TBR > 1.2) were compared. Fifteen patients (3291 supervoxels) were used for training and 19 patients (1502 supervoxels) for testing. The model with all features (RMSE training: 0.19 ± 0.01, test: 0.27) outperformed the model with only CT and FDG-PET features (RMSE training: 0.20 ± 0.01, test: 0.29). All tumors of the test set were correctly classified as normoxic or hypoxic (HV > 1 cm 3 ) by the best performing model. We created a data-driven methodology to predict hypoxia levels and hypoxia spatial patterns using CT, FDG-PET and DCE-CT features in NSCLC. The

Radiation dose reduction through combining positron emission tomography/computed tomography (PET/CT) and diagnostic CT in children and young adults with lymphoma.

PubMed

Qi, Zhihua; Gates, Erica L; O'Brien, Maureen M; Trout, Andrew T

2018-02-01

Both [F-18]2-fluoro-2-deoxyglucose positron emission tomography/computed tomography ( 18 F-FDG PET/CT) and diagnostic CT are at times required for lymphoma staging. This means some body segments are exposed twice to X-rays for generation of CT data (diagnostic CT + localization CT). To describe a combined PET/diagnostic CT approach that modulates CT tube current along the z-axis, providing diagnostic CT of some body segments and localization CT of the remaining body segments, thereby reducing patient radiation dose. We retrospectively compared total patient radiation dose between combined PET/diagnostic CT and separately acquired PET/CT and diagnostic CT exams. When available, we calculated effective doses for both approaches in the same patient; otherwise, we used data from patients of similar size. To confirm image quality, we compared image noise (Hounsfield unit [HU] standard deviation) as measured in the liver on both combined and separately acquired diagnostic CT images. We used t-tests for dose comparisons and two one-sided tests for image-quality equivalence testing. Mean total effective dose for the CT component of the combined and separately acquired diagnostic CT exams were 6.20±2.69 and 8.17±2.61 mSv, respectively (P<0.0001). Average dose savings with the combined approach was 24.8±17.8% (2.60±2.51 mSv [range: 0.32-4.72 mSv]) of total CT effective dose. Image noise was not statistically significantly different between approaches (12.2±1.8 HU vs. 11.7±1.5 HU for the combined and separately acquired diagnostic CT images, respectively). A combined PET/diagnostic CT approach as described offers dose savings at similar image quality for children and young adults with lymphoma who have indications for both PET and diagnostic CT examinations.

Chest CT in children: anesthesia and atelectasis.

PubMed

Newman, Beverley; Krane, Elliot J; Gawande, Rakhee; Holmes, Tyson H; Robinson, Terry E

2014-02-01

There has been an increasing tendency for anesthesiologists to be responsible for providing sedation or anesthesia during chest CT imaging in young children. Anesthesia-related atelectasis noted on chest CT imaging has proven to be a common and troublesome problem, affecting image quality and diagnostic sensitivity. To evaluate the safety and effectiveness of a standardized anesthesia, lung recruitment, controlled-ventilation technique developed at our institution to prevent atelectasis for chest CT imaging in young children. Fifty-six chest CT scans were obtained in 42 children using a research-based intubation, lung recruitment and controlled-ventilation CT scanning protocol. These studies were compared with 70 non-protocolized chest CT scans under anesthesia taken from 18 of the same children, who were tested at different times, without the specific lung recruitment and controlled-ventilation technique. Two radiology readers scored all inspiratory chest CT scans for overall CT quality and atelectasis. Detailed cardiorespiratory parameters were evaluated at baseline, and during recruitment and inspiratory imaging on 21 controlled-ventilation cases and 8 control cases. Significant differences were noted between groups for both quality and atelectasis scores with optimal scoring demonstrated in the controlled-ventilation cases where 70% were rated very good to excellent quality scans compared with only 24% of non-protocol cases. There was no or minimal atelectasis in 48% of the controlled ventilation cases compared to 51% of non-protocol cases with segmental, multisegmental or lobar atelectasis present. No significant difference in cardiorespiratory parameters was found between controlled ventilation and other chest CT cases and no procedure-related adverse events occurred. Controlled-ventilation infant CT scanning under general anesthesia, utilizing intubation and recruitment maneuvers followed by chest CT scans, appears to be a safe and effective method to obtain

Automated size-specific CT dose monitoring program: Assessing variability in CT dose

DOE Office of Scientific and Technical Information (OSTI.GOV)

Christianson, Olav; Li Xiang; Frush, Donald

2012-11-15

Purpose: The potential health risks associated with low levels of ionizing radiation have created a movement in the radiology community to optimize computed tomography (CT) imaging protocols to use the lowest radiation dose possible without compromising the diagnostic usefulness of the images. Despite efforts to use appropriate and consistent radiation doses, studies suggest that a great deal of variability in radiation dose exists both within and between institutions for CT imaging. In this context, the authors have developed an automated size-specific radiation dose monitoring program for CT and used this program to assess variability in size-adjusted effective dose from CTmore » imaging. Methods: The authors radiation dose monitoring program operates on an independent health insurance portability and accountability act compliant dosimetry server. Digital imaging and communication in medicine routing software is used to isolate dose report screen captures and scout images for all incoming CT studies. Effective dose conversion factors (k-factors) are determined based on the protocol and optical character recognition is used to extract the CT dose index and dose-length product. The patient's thickness is obtained by applying an adaptive thresholding algorithm to the scout images and is used to calculate the size-adjusted effective dose (ED{sub adj}). The radiation dose monitoring program was used to collect data on 6351 CT studies from three scanner models (GE Lightspeed Pro 16, GE Lightspeed VCT, and GE Definition CT750 HD) and two institutions over a one-month period and to analyze the variability in ED{sub adj} between scanner models and across institutions. Results: No significant difference was found between computer measurements of patient thickness and observer measurements (p= 0.17), and the average difference between the two methods was less than 4%. Applying the size correction resulted in ED{sub adj} that differed by up to 44% from effective dose

Predictors of pneumothorax after CT-guided transthoracic needle lung biopsy: the role of quantitative CT.

PubMed

Chami, H A; Faraj, W; Yehia, Z A; Badour, S A; Sawan, P; Rebeiz, K; Safa, R; Saade, C; Ghandour, B; Shamseddine, A; Mukherji, D; Haydar, A A

2015-12-01

To evaluate the association of quantitative computed tomography (CT) measures of emphysema with the occurrence of pneumothorax after CT-guided needle lung biopsy (NLB) accounting for other risk factors. One hundred and sixty-three CT-guided NLBs performed between 2008 and 2013 with available complete chest CT within 30 days were reviewed for the occurrence of post-procedure pneumothorax. Percent emphysema was determined quantitatively as the percentage of lung voxels below -950 HU on chest CT images using automated software. Multivariable regression was used to assess the association of percent emphysema volume with the occurrence of post-procedure pneumothorax. The association of percent emphysema volume with the pneumothorax size and need for chest tube placement after NLB was also explored. Percent emphysema was significantly associated with the incidence of post-NLB pneumothorax (OR=1.10 95% confidence interval: 1.01-1.15; p=0.03) adjusting for lower-lobe lesion location, needle path length, lesion size, number of passes, and pleural needle trajectory angle. Percent emphysema was not associated with the size of the pneumothorax, nor the need for chest tube placement after NLB. Percent emphysema determined quantitatively from chest CT is a significant predictor of post-NLB pneumothorax. Copyright © 2015 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

Thin-Section Computed Tomography Manifestations During Convalescence and Long-Term Follow-Up of Patients with Severe Acute Respiratory Syndrome (SARS).

PubMed

Wu, Xiaohua; Dong, Dawei; Ma, Daqing

2016-08-08

BACKGROUND SARS is not only an acute disease, but also leads to long-term impaired lung diffusing capacity in some survivors. However, there is a paucity of data regarding long-term CT findings in survivors after SARS. The aim of this study was to assess the changes in lung function and lung thin-section computed tomography (CT) features in patients recovering from severe acute respiratory syndrome (SARS), especially the dynamic changes in ground-glass opacity (GGO). MATERIAL AND METHODS Clinical and radiological data from 11 patients with SARS were collected. The serial follow-up thin-section CTs were evaluated at 3, 6, and 84 months after SARS presentation. The distribution and predominant thin-section CT findings of lesions were evaluated. RESULTS The extent of the lesions on the CT scans of the 11 patients decreased at 6 and 84 months compared to 3 months. The number of segments involved on 84-month follow-up CTs was less than those at 6 months (P<0.05). The predominant thin-section CT manifestation at 84 months (intralobular and interlobular septal thickening) was different than that at 6 months, at which GGO was predominant. CONCLUSIONS During convalescence after SARS, GGO and intralobular and interlobular septal thickening were the main thin-section CT manifestation. Intralobular and interlobular septal thickening predominated over GGO at 84 months.

PET/CT: underlying physics, instrumentation, and advances.

PubMed

Torres Espallardo, I

Since it was first introduced, the main goal of PET/CT has been to provide both PET and CT images with high clinical quality and to present them to radiologists and specialists in nuclear medicine as a fused, perfectly aligned image. The use of fused PET and CT images quickly became routine in clinical practice, showing the great potential of these hybrid scanners. Thanks to this success, manufacturers have gone beyond considering CT as a mere attenuation corrector for PET, concentrating instead on design high performance PET and CT scanners with more interesting features. Since the first commercial PET/CT scanner became available in 2001, both the PET component and the CT component have improved immensely. In the case of PET, faster scintillation crystals with high stopping power such as LYSO crystals have enabled more sensitive devices to be built, making it possible to reduce the number of undesired coincidence events and to use time of flight (TOF) techniques. All these advances have improved lesion detection, especially in situations with very noisy backgrounds. Iterative reconstruction methods, together with the corrections carried out during the reconstruction and the use of the point-spread function, have improved image quality. In parallel, CT instrumentation has also improved significantly, and 64- and 128-row detectors have been incorporated into the most modern PET/CT scanners. This makes it possible to obtain high quality diagnostic anatomic images in a few seconds that both enable the correction of PET attenuation and provide information for diagnosis. Furthermore, nowadays nearly all PET/CT scanners have a system that modulates the dose of radiation that the patient is exposed to in the CT study in function of the region scanned. This article reviews the underlying physics of PET and CT imaging separately, describes the changes in the instrumentation and standard protocols in a combined PET/CT system, and finally points out the most important

Screening white spot syndrome virus (WSSV)-resistant molecular markers from Fenneropenaeus chinensis

NASA Astrophysics Data System (ADS)

Wu, Yingying; Meng, Xianhong; Kong, Jie; Luan, Sheng; Luo, Kun; Wang, Qingyin; Zheng, Yongyun

2017-02-01

White spot syndrome virus (WSSV)-resistant molecular markers were screened from the selectively bred new variety `Huanghai No. 2' of Fenneropenaeus chinensis using unlabeled-probe high-resolution melting (HRM) technique. After the artificial infection with WSSV, the first 96 dead shrimps and the last 96 surviving shrimps were collected, representing WSSV-susceptible and -resistant populations, respectively. The genotypes at well-developed 39 single nucleotide polymorphisms (SNPs) loci were obtained. As revealed in the Chi-square test, 3 SNPs, genotype A/A of contig C364-89AT, genotype A/A of C2635-527CA and genotype C/T of contig C12355-592CT, were positively correlated with disease-resistance traits. Other 2 SNPs, genotype G/G of contig C283-145AG and genotype C/C of contig C12355-592CT, were negatively correlated. Moreover, analysis with BlastX program for disease-resistant SNPs indicated that 3 contigs, Contig283, Contig364 and Contig12355, matched to the functional genes of effector caspase of Penaeus monodon, peptide transporter family 1-like protein, and 40S ribosomal protein S2 of Perca flavescens with high sequence similarity. The results will be helpful to provide theoretical and technical supports for molecular marker-assisted selective breeding of F. chinensis.

Hepatic steatosis in young lean insulin resistant women with polycystic ovary syndrome.

PubMed

Markou, Athina; Androulakis, Ioannis I; Mourmouris, Christos; Tsikkini, Ageliki; Samara, Christianna; Sougioultzis, Stavros; Piaditis, George; Kaltsas, Gregory

2010-03-01

To investigate the presence of nonalcoholic fatty liver disease (NAFLD) in young lean women with polycystic ovary syndrome (PCOS) and insulin resistance (IR). Case control study. Women with PCOS and healthy controls in a metabolic day ward. Seventeen young lean women with PCOS and 17 matched controls were studied prospectively. Fasting blood and a glucose tolerance test. Ovarian and liver ultrasonography, and computed tomography (CT) of the liver (women with PCOS only). Anthropometric variables, biochemical and hormonal parameters, and several IR indices were determined. Hepatic lipid content was assessed with ultrasonography and CT of the liver. Women with PCOS had higher androgen levels, and the IR indices, glucose and insulin area under the curve, QUICKI, MATSUDA, and HOMA, compared to controls. In addition to IR, women with PCOS had normal aminotransferase levels, and higher, although within the normal range, alkaline phosphatase levels compared with controls. Women with PCOS had no evidence of NAFLD by either ultrasonography or CT of the liver. Young lean women with PCOS and IR do not have evidence of NAFLD. Because of the presence of IR, follow-up is required to determine whether they are at risk of developing NAFLD. Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Atypical moyamoya syndrome with brain calcification and stenosis of abdominal aorta and renal arteries.

PubMed

Uchikawa, Hideki; Fujii, Katsunori; Fujita, Mayuko; Okunushi, Tomoko; Shimojo, Naoki

2017-09-01

Moyamoya syndrome is a progressive cerebrovascular disease that is characterized by stenosis of the terminal portion of the internal carotid artery and its main branches, in combination with an accompanying disease. We herein describe an 8-year-old boy exhibiting transient loss of consciousness, who had recurrent seizures in infancy with progressive brain calcification. On admission, he was alert but magnetic resonance angiography showed bilateral stenosis of the whole internal carotid artery and proliferation of vascular collaterals, and brain CT revealed calcification on bilateral putamen. Given that this fulfilled diagnostic criteria, we finally diagnosed him as having moyamoya syndrome, though the etiology was unclear. Interestingly, a whole vessel survey revealed vascular stenosis of abdominal aorta and renal arteries, in which the former has not been reported in moyamoya syndrome. We considered that brain calcification was gradually formed by decreased cerebral vascular flow from infancy, and stenosis of abdominal aorta was possibly extended from renal arteries. This is, moyamoya syndrome with brain calcification and stenosis of abdominal aorta, suggesting that morphological screening of whole vessels containing cerebral and abdominal arteries should be considered in cases of slowly progressive brain calcification. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Trapping volumetric measurement by multidetector CT in chronic obstructive pulmonary disease: Effect of CT threshold

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wang, Xiaohua; Yuan, Huishu; Duan, Jianghui

2013-08-15

Purpose: The purpose of this study was to evaluate the effect of various computed tomography (CT) thresholds on trapping volumetric measurements by multidetector CT in chronic obstructive pulmonary disease (COPD).Methods: Twenty-three COPD patients were scanned with a 64-slice CT scanner in both the inspiratory and expiratory phase. CT thresholds of −950 Hu in inspiration and −950 to −890 Hu in expiration were used, after which trapping volumetric measurements were made using computer software. Trapping volume percentage (Vtrap%) under the different CT thresholds in the expiratory phase and below −950 Hu in the inspiratory phase was compared and correlated with lungmore » function.Results: Mean Vtrap% was similar under −930 Hu in the expiratory phase and below −950 Hu in the inspiratory phase, being 13.18 ± 9.66 and 13.95 ± 6.72 (both lungs), respectively; this difference was not significant (P= 0.240). Vtrap% under −950 Hu in the inspiratory phase and below the −950 to −890 Hu threshold in the expiratory phase was moderately negatively correlated with the ratio of forced expiratory volume in one second to forced vital capacity and the measured value of forced expiratory volume in one second as a percentage of the predicted value.Conclusions: Trapping volumetric measurement with multidetector CT is a promising method for the quantification of COPD. It is important to know the effect of various CT thresholds on trapping volumetric measurements.« less

Comparison of air space measurement imaged by CT, small-animal CT, and hyperpolarized Xe MRI

NASA Astrophysics Data System (ADS)

Madani, Aniseh; White, Steven; Santyr, Giles; Cunningham, Ian

2005-04-01

Lung disease is the third leading cause of death in the western world. Lung air volume measurements are thought to be early indicators of lung disease and markers in pharmaceutical research. The purpose of this work is to develop a lung phantom for assessing and comparing the quantitative accuracy of hyperpolarized xenon 129 magnetic resonance imaging (HP 129Xe MRI), conventional computed tomography (HRCT), and highresolution small-animal CT (μCT) in measuring lung gas volumes. We developed a lung phantom consisting of solid cellulose acetate spheres (1, 2, 3, 4 and 5 mm diameter) uniformly packed in circulated air or HP 129Xe gas. Air volume is estimated based on simple thresholding algorithm. Truth is calculated from the sphere diameters and validated using μCT. While this phantom is not anthropomorphic, it enables us to directly measure air space volume and compare these imaging methods as a function of sphere diameter for the first time. HP 129Xe MRI requires partial volume analysis to distinguish regions with and without 129Xe gas and results are within %5 of truth but settling of the heavy 129Xe gas complicates this analysis. Conventional CT demonstrated partial-volume artifacts for the 1mm spheres. μCT gives the most accurate air-volume results. Conventional CT and HP 129Xe MRI give similar results although non-uniform densities of 129Xe require more sophisticated algorithms than simple thresholding. The threshold required to give the true air volume in both HRCT and μCT, varies with sphere diameters calling into question the validity of thresholding method.

Low-dose computed tomography scans with automatic exposure control for patients of different ages undergoing cardiac PET/CT and SPECT/CT.

PubMed

Yang, Ching-Ching; Yang, Bang-Hung; Tu, Chun-Yuan; Wu, Tung-Hsin; Liu, Shu-Hsin

2017-06-01

This study aimed to evaluate the efficacy of automatic exposure control (AEC) in order to optimize low-dose computed tomography (CT) protocols for patients of different ages undergoing cardiac PET/CT and single-photon emission computed tomography/computed tomography (SPECT/CT). One PET/CT and one SPECT/CT were used to acquire CT images for four anthropomorphic phantoms representative of 1-year-old, 5-year-old and 10-year-old children and an adult. For the hybrid systems investigated in this study, the radiation dose and image quality of cardiac CT scans performed with AEC activated depend mainly on the selection of a predefined image quality index. Multiple linear regression methods were used to analyse image data from anthropomorphic phantom studies to investigate the effects of body size and predefined image quality index on CT radiation dose in cardiac PET/CT and SPECT/CT scans. The regression relationships have a coefficient of determination larger than 0.9, indicating a good fit to the data. According to the regression models, low-dose protocols using the AEC technique were optimized for patients of different ages. In comparison with the standard protocol with AEC activated for adult cardiac examinations used in our clinical routine practice, the optimized paediatric protocols in PET/CT allow 32.2, 63.7 and 79.2% CT dose reductions for anthropomorphic phantoms simulating 10-year-old, 5-year-old and 1-year-old children, respectively. The corresponding results for cardiac SPECT/CT are 8.4, 51.5 and 72.7%. AEC is a practical way to reduce CT radiation dose in cardiac PET/CT and SPECT/CT, but the AEC settings should be determined properly for optimal effect. Our results show that AEC does not eliminate the need for paediatric protocols and CT examinations using the AEC technique should be optimized for paediatric patients to reduce the radiation dose as low as reasonably achievable.

WE-G-209-02: CT

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kofler, J.

2016-06-15

Digital radiography, CT, PET, and MR are complicated imaging modalities which are composed of many hardware and software components. These components work together in a highly coordinated chain of events with the intent to produce high quality images. Acquisition, processing and reconstruction of data must occur in a precise way for optimum image quality to be achieved. Any error or unexpected event in the entire process can produce unwanted pixel intensities in the final images which may contribute to visible image artifacts. The diagnostic imaging physicist is uniquely qualified to investigate and contribute to resolution of image artifacts. This coursemore » will teach the participant to identify common artifacts found clinically in digital radiography, CT, PET, and MR, to determine the causes of artifacts, and to make recommendations for how to resolve artifacts. Learning Objectives: Identify common artifacts found clinically in digital radiography, CT, PET and MR. Determine causes of various clinical artifacts from digital radiography, CT, PET and MR. Describe how to resolve various clinical artifacts from digital radiography, CT, PET and MR.« less

Gene stage-specific expression in the microenvironment of pediatric myelodysplastic syndromes.

PubMed

Roela, Rosimeire A; Carraro, Dirce M; Brentani, Helena P; Kaiano, Jane H L; Simão, Daniel F; Guarnieiro, Roberto; Lopes, Luiz Fernando; Borojevic, Radovan; Brentani, M Mitzi

2007-05-01

Using cDNA microarray assays we have observed a clear difference in the gene expression pattern between bone marrow stromal cells obtained from healthy children (CT) and from pediatric patients with either myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) associated with MDS (MDS-AML). The global gene function profiling analysis indicated that in the pediatric MDS microenvironment the disease stages may be characterized mainly by underexpression of genes associated with biological processes such as transport. Furthermore, a subset of downregulated genes related to endocytosis and protein secretion was able to discriminate MDS from MDS-AML.

68Ga-PSMA-PET/CT in Patients With Biochemical Prostate Cancer Recurrence and Negative 18F-Choline-PET/CT

PubMed Central

Bluemel, Christina; Krebs, Markus; Polat, Bülent; Linke, Fränze; Eiber, Matthias; Samnick, Samuel; Lapa, Constantin; Lassmann, Michael; Riedmiller, Hubertus; Czernin, Johannes; Rubello, Domenico; Bley, Thorsten; Kropf, Saskia; Wester, Hans-Juergen; Buck, Andreas K.; Herrmann, Ken

2016-01-01

Purpose Investigating the value of 68Ga-PSMA-PET/CT in biochemically recurring prostate cancer patients with negative 18F-choline-PET/CT. Patients and Methods One hundred thirty-nine consecutive patients with biochemical recurrence after curative (surgery and/or radiotherapy) therapy were offered participation in this sequential clinical imaging approach. Patients first underwent an 18F-choline-PET/CT. If negative, an additional 68Ga-PSMA-PET/CTwas offered. One hundred twenty-five of 139 eligible patients were included in the study; 32 patients underwent additional 68Ga-PSMA-PET/CT. Patients with equivocal findings (n = 5) on 18F-choline-PET/CT and those who declined the additional 68Ga-PSMA-PET/CT (n = 9) were excluded. Images were analyzed visually for the presence of suspicious lesions. Findings on PET/CT were correlated with PSA level, PSA doubling time (dt), and PSA velocity (vel). Results The overall detection rates were 85.6% (107/125) for the sequential imaging approach and 74.4% (93/125) for 18F-choline-PET/CT alone. 68Ga-PSMA-PET/CT detected sites of recurrence in 43.8% (14/32) of the choline-negative patients. Detection rates of the sequential imaging approach and 18F-choline-PET/CT alone increased with higher serum PSA levels and PSA vel. Subgroup analysis of 68Ga-PSMA-PET/CT in 18F-choline negative patients revealed detection rates of 28.6%, 45.5%, and 71.4% for PSA levels of 0.2 or greater to less than 1 ng/mL, 1 to 2 ng/mL, and greater than 2 ng/mL, respectively. Conclusions The sequential imaging approach designed to limit 68Ga-PSMA imaging to patients with negative choline scans resulted in high detection rates. 68Ga-PSMA-PET/CT identified sites of recurrent disease in 43.8% of the patients with negative 18F-choline PET/CT scans. PMID:26975008

Anatomical popliteal artery entrapment syndrome.

PubMed

Kwon, Yong Jae; Kwon, Tae-Won; Gwon, Jun Gyo; Cho, Yong-Pil; Hwang, Seung-Jun; Go, Ki-Young

2018-05-01

The aim of this study was to analyze anatomical popliteal artery entrapment syndrome (PAES) and to individualize the treatment of this condition according to the anatomical status of the artery and the adjacent structure. A total of 35 anatomical PAES legs in 23 consecutive patients treated within the Asan Medical Center, Seoul, Korea between 1995 and 2011 were analyzed retrospectively. Anatomical PAES was diagnosed by MRI and/or CT scans of the knee joint, and CT or conventional transfemoral arteriography of the lower extremities. We noted a type II gastrocnemius medial head (GNM) anomaly, a type III GNM anomaly, or an aberrant plantaris muscle in 51.4%, 20%, and 28.6% of PAES legs, respectively. In assessments of the arterial lesions, popliteal or tibial artery occlusion was noted in 19 of 26 symptomatic PAES legs. For cases without popliteal artery lesions, myotomy of the anatomically deranged muscle was performed in 5 of 7 symptomatic and 4 of 9 asymptomatic PAES legs. For occluded popliteal arteries, we performed ten direct repairs of the pathological popliteal artery and 4 femoro-below the knee popliteal bypass surgeries. As a result of the arterial Surgery, 9 direct procedures with myotomy yielded a patent artery, while 3 graft failures were noted in the bypass group. The median follow-up period was 84 months (range, 12-206 months). We recommend that treatment of PAES should be individualized based on pathology, symptoms, and various imaging studies.

Low-dose CT in clinical diagnostics.

PubMed

Fuentes-Orrego, Jorge M; Sahani, Dushyant V

2013-09-01

Computed tomography (CT) has become key for patient management due to its outstanding capabilities for detecting disease processes and assessing treatment response, which has led to expansion in CT imaging for diagnostic and image-guided therapeutic interventions. Despite these benefits, the growing use of CT has raised concerns as radiation risks associated with radiation exposure. The purpose of this article is to familiarize the reader with fundamental concepts of dose metrics for assessing radiation exposure and weighting radiation-associated risks. The article also discusses general approaches for reducing radiation dose while preserving diagnostic quality. The authors provide additional insight for undertaking protocol optimization, customizing scanning techniques based on the patients' clinical scenario and demographics. Supplemental strategies are postulated using more advanced post-processing techniques for achieving further dose improvements. The technologic offerings of CT are integral to modern medicine and its role will continue to evolve. Although, the estimated risks from low levels of radiation of a single CT exam are uncertain, it is prudent to minimize the dose from CT by applying common sense solutions and using other simple strategies as well as exploiting technologic innovations. These efforts will enable us to take advantage of all the clinical benefits of CT while minimizing the likelihood of harm to patients.

Body-wide anatomy recognition in PET/CT images

NASA Astrophysics Data System (ADS)

Wang, Huiqian; Udupa, Jayaram K.; Odhner, Dewey; Tong, Yubing; Zhao, Liming; Torigian, Drew A.

2015-03-01

With the rapid growth of positron emission tomography/computed tomography (PET/CT)-based medical applications, body-wide anatomy recognition on whole-body PET/CT images becomes crucial for quantifying body-wide disease burden. This, however, is a challenging problem and seldom studied due to unclear anatomy reference frame and low spatial resolution of PET images as well as low contrast and spatial resolution of the associated low-dose CT images. We previously developed an automatic anatomy recognition (AAR) system [15] whose applicability was demonstrated on diagnostic computed tomography (CT) and magnetic resonance (MR) images in different body regions on 35 objects. The aim of the present work is to investigate strategies for adapting the previous AAR system to low-dose CT and PET images toward automated body-wide disease quantification. Our adaptation of the previous AAR methodology to PET/CT images in this paper focuses on 16 objects in three body regions - thorax, abdomen, and pelvis - and consists of the following steps: collecting whole-body PET/CT images from existing patient image databases, delineating all objects in these images, modifying the previous hierarchical models built from diagnostic CT images to account for differences in appearance in low-dose CT and PET images, automatically locating objects in these images following object hierarchy, and evaluating performance. Our preliminary evaluations indicate that the performance of the AAR approach on low-dose CT images achieves object localization accuracy within about 2 voxels, which is comparable to the accuracies achieved on diagnostic contrast-enhanced CT images. Object recognition on low-dose CT images from PET/CT examinations without requiring diagnostic contrast-enhanced CT seems feasible.

Thoracic computerized tomographic (CT) findings in 2009 influenza A (H1N1) virus infection in Isfahan, Iran

PubMed Central

Rostami, Mojtaba; Javadi, Abbas-Ali; Khorvash, Farzin; Mostafavizadeh, Kamyar; Adibi, Atoosa; Babak, Anahita; Ataei, Behrooz; Meidani, Mohsen; Naeini, Alireza Emami; Salehi, Hasan; Avijgan, Majid; Yazdani, Mohammad Reza; Rezaei, Farshid

2011-01-01

BACKGROUND: Pandemic 2009 H1N1 influenza A virus arrived at Isfahan in August 2009. The virus is still circulating in the world. The abnormal thoracic computerized tomographic (CT) scan findings vary widely among the studies of 2009 H1N1 influenza. We evaluated the thoracic CT findings in patients with 2009 H1N1 virus infection to describe findings compared to previously reported findings, and to suggest patterns that may be suggestive for 2009 influenza A (H1N1) in an appropriate clinical setting. METHODS: Retrospectively, the archive of all patients with a diagnosis of 2009 H1N1 influenza A were reviewed, in Al-Zahra Hospital in Isfahan, central Iran, between September 23rd 2009 to February 20th 2010. Out of 216 patients with confirmed 2009 influenza A (H1N1) virus, 26 cases with abnormal CT were enrolled in the study. Radiologic findings were characterized by the type and pattern of opacities and zonal distribution. RESULTS: Patchy infiltration (34.6%), lobar consolidation (30.8%), and interstitial infiltration (26.9%) with airbronchogram (38.5%) were the predominant findings in our patients. Bilateral distribution was seen in 80.8% of the patients. Only one patient (3.8%) showed ground-glass opacity, predominant radiographic finding in the previous reports and severe acute respiratory syndrome (SARS). CONCLUSIONS: The most common thoracic CT findings in pandemic H1N1 were patchy infiltration, lobar consolidation, and interstitial infiltration with airbronchogram and bilateral distribution. While these findings can be associated with other infections; they may be suggestive to 2009 influenza A (H1N1) in the appropriate clinical setting. Various radiographic patterns can be seen in thoracic CT scans of the influenza patients. Imaging findings are nonspecific. PMID:22091280

Dual-energy CT revisited with multidetector CT: review of principles and clinical applications.

PubMed

Karçaaltıncaba, Muşturay; Aktaş, Aykut

2011-09-01

Although dual-energy CT (DECT) was first conceived in the 1970s, it was not widely used for CT indications. Recently, the simultaneous acquisition of volumetric dual-energy data has been introduced using multidetector CT (MDCT) with two X-ray tubes and rapid kVp switching (gemstone spectral imaging). Two major advantages of DECT are material decomposition by acquiring two image series with different kVp and the elimination of misregistration artifacts. Hounsfield unit measurements by DECT are not absolute and can change depending on the kVp used for an acquisition. Typically, a combination of 80/140 kVp is used for DECT, but for some applications, 100/140 kVp is preferred. In this study, we summarized the clinical applications of DECT and included images that were acquired using the dual-source CT and rapid kVp switching. In general, unenhanced images can be avoided by using DECT for body and neurological applications; iodine can be removed from the image, and a virtual, non-contrast (water) image can be obtained. Neuroradiological applications allow for the removal of bone and calcium from the carotid and brain CT angiography. Thorax applications include perfusion imaging in patients with pulmonary thromboemboli and other chest diseases, xenon ventilation-perfusion imaging and solitary nodule characterization. Cardiac applications include dual-energy cardiac perfusion, viability and cardiac iron detection. The removal of calcific plaques from arteries, bone removal and aortic stent graft evaluation may be achieved in the vascular system. Abdominal applications include the detection and characterization of liver and pancreas masses, the diagnosis of steatosis and iron overload, DECT colonoscopy and CT cholangiography. Urinary system applications are urinary calculi characterization (uric acid vs. non-uric acid), renal cyst characterization and mass characterization. Musculoskeletal applications permit the differentiation of gout from pseudogout and a reduction of

Comparison of Dynamic Contrast-Enhanced MRI and PET/CT in the Evaluation of Laryngeal Cancer After Inadequate CT Results.

PubMed

Citil, Serdal; Dogan, Serap; Atilgan, Hasan Ikbal; Menzilcioglu, Mehmet Sait; Sahin, Tuna; Abdulrezzak, Ummuhan; Duymus, Mahmut; Ozturk, Mustafa

2015-01-01

To investigate the diagnostic value of dynamic magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) for laryngeal cancers after inadequate CT results. The study comprised 45 patients investigated for primary laryngeal cancer or recurrence-residue in which CT was considered inadequate. A mass was found in 20 patients. Dynamic MRI and PET/CT were compared for diagnosis of mass, lymph node involvement, recurrence and residue. The dynamic curves formed in dynamic MRI were investigated for diagnostic contributions. The sensitivity and specificity of the dynamic MRI, for supraglottic, glottic and subglottic location, was 100%, 80%, and 92%; 100%, 85%, and 100%, respectively. In PET/CT the sensitivity and specificity were 100% for all of those localizations. For lymph node involvement, the sensitivity of dynamic MRI and PET/CT was 100%, the specificity was 100% and 93%, respectively. For recurrence-residue, the sensitivity and specificity of dynamic MRI were 86% and 67%, respectively, with 100% sensitivity and specificity in PET/CT. The sensitivity of type A curve for detection of malignancy was 40%, and specificity was 100%. When type A and B curves were included, the sensitivity was 100%. For patients investigated for laryngeal cancer in which CT is considered inadequate, dynamic MRI or PET/CT is useful.

Impact of ¹⁸F-fluoride PET-CT on implementing early treatment of painful bone metastases with Sm-153 EDTMP.

PubMed

Storto, Giovanni; Gallicchio, Rosj; Pellegrino, Teresa; Nardelli, Anna; De Luca, Serena; Capacchione, Daniela; Sirignano, Cesare; Pace, Leonardo

2013-05-01

This study evaluated the diagnostic impact of using skeletal (18)F-fluoride PET/CT on patients with painful bone metastases to schedule an early palliative radionuclide treatment. The skeletal involvement from prostate cancer metastases was assessed by both (99m)Tc-diphosphonate bone scan (BS) and (18)F-fluoride PET/CT within four weeks in 24 patients (67.7 ± 5.1 years) suffering from a borderline degree of bone pain for which radionuclide palliation was not shortly planned for administration. The BS and (18)F-fluoride PET/CT results were compared, assessing the number and extension of the skeletal sites involved. Afterward, the patients were randomly assigned either to the study group (N=12) receiving radionuclide therapy (Samarium-153 EDTMP) or to the control group (N=12) not receiving radionuclide therapy. The short-term results from the radionuclide palliation group (evaluated with a visual analogue scale) were compared with the controls. Overall, at BS, 7.6 ± 1.4 sites were considered metastatic, involving at least 5 ± 1 body regions. At (18)F-fluoride PET/CT, 116 ± 19 sites presented metastatic involvement with 12/12 body regions concerned. No differences were found in regards to either the number of metastatic sites or regions at both BS and (18)F-fluoride PET/CT between the study group and controls (p=ns). At CT, 88 blastic metastases were identified, whereas 110 were mainly lytic. Most of mainly lytic lesions were not detectable at BS. The reduction in total discomfort and bone pain in the study group was significantly greater than in the controls (p<0.0001). Sm-153 EDTMP therapy should be considered for patients with early bone pain from prostate cancer even if their BS only indicates a few metastases before the initiation of a severe pain syndrome. (18)F-fluoride PET/CT may be helpful in deciding if the implementation of bone pain palliation using bone-seeking radionuclides at pain onset is necessary. Copyright © 2013 Elsevier Inc. All rights

Optimization of the scan protocols for CT-based material extraction in small animal PET/CT studies

NASA Astrophysics Data System (ADS)

Yang, Ching-Ching; Yu, Jhih-An; Yang, Bang-Hung; Wu, Tung-Hsin

2013-12-01

We investigated the effects of scan protocols on CT-based material extraction to minimize radiation dose while maintaining sufficient image information in small animal studies. The phantom simulation experiments were performed with the high dose (HD), medium dose (MD) and low dose (LD) protocols at 50, 70 and 80 kVp with varying mA s. The reconstructed CT images were segmented based on Hounsfield unit (HU)-physical density (ρ) calibration curves and the dual-energy CT-based (DECT) method. Compared to the (HU;ρ) method performed on CT images acquired with the 80 kVp HD protocol, a 2-fold improvement in segmentation accuracy and a 7.5-fold reduction in radiation dose were observed when the DECT method was performed on CT images acquired with the 50/80 kVp LD protocol, showing the possibility to reduce radiation dose while achieving high segmentation accuracy.

Reducing image noise in computed tomography (CT) colonography: effect of an integrated circuit CT detector.

PubMed

Liu, Yu; Leng, Shuai; Michalak, Gregory J; Vrieze, Thomas J; Duan, Xinhui; Qu, Mingliang; Shiung, Maria M; McCollough, Cynthia H; Fletcher, Joel G

2014-01-01

To investigate whether the integrated circuit (IC) detector results in reduced noise in computed tomography (CT) colonography (CTC). Three hundred sixty-six consecutive patients underwent clinically indicated CTC using the same CT scanner system, except for a difference in CT detectors (IC or conventional). Image noise, patient size, and scanner radiation output (volume CT dose index) were quantitatively compared between patient cohorts using each detector system, with separate comparisons for the abdomen and pelvis. For the abdomen and pelvis, despite significantly larger patient sizes in the IC detector cohort (both P < 0.001), image noise was significantly lower (both P < 0.001), whereas volume CT dose index was unchanged (both P > 0.18). Based on the observed image noise reduction, radiation dose could alternatively be reduced by approximately 20% to result in similar levels of image noise. Computed tomography colonography images acquired using the IC detector had significantly lower noise than images acquired using the conventional detector. This noise reduction can permit further radiation dose reduction in CTC.

Incidental physiological sliding hiatal hernia: a single center comparison study between CT with water enema and CT colonography.

PubMed

Revelli, Matteo; Furnari, Manuele; Bacigalupo, Lorenzo; Paparo, Francesco; Astengo, Davide; Savarino, Edoardo; Rollandi, Gian Andrea

2015-08-01

Hiatal hernia is a well-known factor impacting on most mechanisms underlying gastroesophageal reflux, related with the risk of developing complications such as erosive esophagitis, Barrett's esophagus and ultimately, esophageal adenocarcinoma. It is our firm opinion that an erroneous reporting of hiatal hernia in CT exams performed with colonic distention may trigger a consecutive diagnostic process that is not only unnecessary, inducing a unmotivated anxiety in the patient, but also expensive and time-consuming for both the patient and the healthcare system. The purposes of our study were to determine whether colonic distention at CT with water enema and CT colonography can induce small sliding hiatal hernias and to detect whether hiatal hernias size modifications could be considered significant for both water and gas distention techniques. We retrospectively evaluated 400 consecutive patients, 200 undergoing CT-WE and 200 undergoing CTC, including 59 subjects who also underwent a routine abdominal CT evaluation on a different time, used as internal control, while a separate group of 200 consecutive patients who underwent abdominal CT evaluation was used as external control. Two abdominal radiologists assessed the CT exams for the presence of a sliding hiatal hernia, grading the size as small, moderate, or large; the internal control groups were directly compared with the corresponding CT-WE or CTC study looking for a change in hernia size. We used the Student's t test applying a size-specific correction factor, in order to account for the effect of colonic distention: these "corrected" values were then individually compared with the external control group. A sliding hiatal hernia was present in 51 % (102/200) of the CT-WE patients and in 48.5 % (97/200) of the CTC patients. Internal control CT of the 31 patients with a hernia at CT-WE showed resolution of the hernia in 58.1 % (18/31) of patients, including 76.5 % (13/17) and 45.5 % (5/11) of small and moderate

[Spiral CT angiography in practice].

PubMed

Pavcec, Zlatko; Zokalj, Ivan; Rumboldt, Zoran; Pal, Andrej; Saghir, Hussein; Ozretić, David; Latin, Branko; Perhoć, Zeljka; Marotti, Miljenko

2005-01-01

Incidence of vascular diseases and development of new radiologic techniques in the last three decades has given strong impuls for introduction of non-invasive vascular diagnostic methods. Thanks to the introduction of Doppler ultrasound, new types of computed tomography (CT) and magnetic resonance (MR) scanners, non-invasive vascular diagnostic methods are replacing conventional invasive (catheter) angiographic methods. Computed tomographic angiography (CTA) is a noninvasive vascular diagnostic method based on continuous scanning with CT scanner during intravenous application of contrast material. Performing of CTA is possible after introduction of spiral CT technique whose characteristics are short imaging time and volumetric data acquisition. The main goal of this article, based on our experiences, is to review the role of CTA, performed on single-slice CT scanner, in managment of patients with vascular pathology.

Technical Note: Improved CT number stability across patient size using dual-energy CT virtual monoenergetic imaging.

PubMed

Michalak, Gregory; Grimes, Joshua; Fletcher, Joel; Halaweish, Ahmed; Yu, Lifeng; Leng, Shuai; McCollough, Cynthia

2016-01-01

The purpose of this study was to evaluate, over a wide range of phantom sizes, CT number stability achieved using two techniques for generating dual-energy computed tomography (DECT) virtual monoenergetic images. Water phantoms ranging in lateral diameter from 15 to 50 cm and containing a CT number test object were scanned on a DSCT scanner using both single-energy (SE) and dual-energy (DE) techniques. The SE tube potentials were 70, 80, 90, 100, 110, 120, 130, 140, and 150 kV; the DE tube potential pairs were 80/140, 70/150Sn, 80/150Sn, 90/150Sn, and 100/150Sn kV (Sn denotes that the 150 kV beam was filtered with a 0.6 mm tin filter). Virtual monoenergetic images at energies ranging from 40 to 140 keV were produced from the DECT data using two algorithms, monoenergetic (mono) and monoenergetic plus (mono+). Particularly in large phantoms, water CT number errors and/or artifacts were observed; thus, datasets with water CT numbers outside ±10 HU or with noticeable artifacts were excluded from the study. CT numbers were measured to determine CT number stability across all phantom sizes. Data exclusions were generally limited to cases when a SE or DE technique with a tube potential of less than 90 kV was used to scan a phantom larger than 30 cm. The 90/150Sn DE technique provided the most accurate water background over the large range of phantom sizes evaluated. Mono and mono+ provided equally improved CT number stability as a function of phantom size compared to SE; the average deviation in CT number was only 1.4% using 40 keV and 1.8% using 70 keV, while SE had an average deviation of 11.8%. The authors' report demonstrates, across all phantom sizes, the improvement in CT number stability achieved with mono and mono+ relative to SE.

Technical Note: Improved CT number stability across patient size using dual-energy CT virtual monoenergetic imaging

DOE Office of Scientific and Technical Information (OSTI.GOV)

Michalak, Gregory; Grimes, Joshua; Fletcher, Joel

2016-01-15

Purpose: The purpose of this study was to evaluate, over a wide range of phantom sizes, CT number stability achieved using two techniques for generating dual-energy computed tomography (DECT) virtual monoenergetic images. Methods: Water phantoms ranging in lateral diameter from 15 to 50 cm and containing a CT number test object were scanned on a DSCT scanner using both single-energy (SE) and dual-energy (DE) techniques. The SE tube potentials were 70, 80, 90, 100, 110, 120, 130, 140, and 150 kV; the DE tube potential pairs were 80/140, 70/150Sn, 80/150Sn, 90/150Sn, and 100/150Sn kV (Sn denotes that the 150 kVmore » beam was filtered with a 0.6 mm tin filter). Virtual monoenergetic images at energies ranging from 40 to 140 keV were produced from the DECT data using two algorithms, monoenergetic (mono) and monoenergetic plus (mono+). Particularly in large phantoms, water CT number errors and/or artifacts were observed; thus, datasets with water CT numbers outside ±10 HU or with noticeable artifacts were excluded from the study. CT numbers were measured to determine CT number stability across all phantom sizes. Results: Data exclusions were generally limited to cases when a SE or DE technique with a tube potential of less than 90 kV was used to scan a phantom larger than 30 cm. The 90/150Sn DE technique provided the most accurate water background over the large range of phantom sizes evaluated. Mono and mono+ provided equally improved CT number stability as a function of phantom size compared to SE; the average deviation in CT number was only 1.4% using 40 keV and 1.8% using 70 keV, while SE had an average deviation of 11.8%. Conclusions: The authors’ report demonstrates, across all phantom sizes, the improvement in CT number stability achieved with mono and mono+ relative to SE.« less

Tuberculous peritonitis: CT appearance

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hanson, R.D.; Hunter, T.B.

1985-05-01

Rare, sporadic cases of tuberculous peritonitis do occur in the United States and other advanced countries. Because there are few descriptions of the CT appearance of the peritoneal forms of tuberculous (TB), this report illustrates a case of tuberculous peritonitis with prominent CT findings and discusses the differentiation of this entity from other, more common diseases.

Novel TMEM67 Mutations and Genotype-phenotype Correlates in Meckelin-related Ciliopathies

PubMed Central

Iannicelli, Miriam; Brancati, Francesco; Mougou-Zerelli, Soumaya; Mazzotta, Annalisa; Thomas, Sophie; Elkhartoufi, Nadia; Travaglini, Lorena; Gomes, Céline; Ardissino, Gian Luigi; Bertini, Enrico; Boltshauser, Eugen; Castorina, Pierangela; D'Arrigo, Stefano; Fischetto, Rita; Leroy, Brigitte; Loget, Philippe; Bonnière, Maryse; Starck, Lena; Tantau, Julia; Gentilin, Barbara; Majore, Silvia; Swistun, Dominika; Flori, Elizabeth; Lalatta, Faustina; Pantaleoni, Chiara; Johannes.Penzien; Grammatico, Paola; Dallapiccola, Bruno; Gleeson, Joseph G.; Attie-Bitach, Tania; Valente, Enza Maria

2010-01-01

Human ciliopathies are hereditary conditions caused by defects of proteins expressed at the primary cilium. Among ciliopathies, Joubert syndrome and related disorders (JSRD), Meckel syndrome (MKS) and nephronophthisis (NPH) present clinical and genetic overlap, being allelic at several loci. One of the most interesting gene is TMEM67, encoding the transmembrane protein meckelin. We performed mutation analysis of TMEM67 in 341 probands, including 265 JSRD representative of all clinical subgroups and 76 MKS fetuses. We identified 33 distinct mutations, of which 20 were novel, in 8/10 (80%) JS with liver involvement (COACH phenotype) and 12/76 (16%) MKS fetuses. No mutations were found in other JSRD subtypes, confirming the strong association between TMEM67 mutations and liver involvement. Literature review of all published TMEM67 mutated cases was performed to delineate genotype-phenotype correlates. In particular, comparison of the types of mutations and their distribution along the gene in lethal versus non lethal phenotypes showed in MKS patients a significant enrichment of missense mutations falling in TMEM67 exons 8 to 15, especially when in combination with a truncating mutation. These exons encode for a region of unknown function in the extracellular domain of meckelin. PMID:20232449

Accuracy of low dose CT in the diagnosis of appendicitis in childhood and comparison with USG and standard dose CT.

PubMed

Yi, Dae Yong; Lee, Kyung Hoon; Park, Sung Bin; Kim, Jee Taek; Lee, Na Mi; Kim, Hyery; Yun, Sin Weon; Chae, Soo Ahn; Lim, In Seok

Computed tomography should be performed after careful consideration due to radiation hazard, which is why interest in low dose CT has increased recently in acute appendicitis. Previous studies have been performed in adult and adolescents populations, but no studies have reported on the efficacy of using low-dose CT in children younger than 10 years. Patients (n=475) younger than 10 years who were examined for acute appendicitis were recruited. Subjects were divided into three groups according to the examinations performed: low-dose CT, ultrasonography, and standard-dose CT. Subjects were categorized according to age and body mass index (BMI). Low-dose CT was a contributive tool in diagnosing appendicitis, and it was an adequate method, when compared with ultrasonography and standard-dose CT in terms of sensitivity (95.5% vs. 95.0% and 94.5%, p=0.794), specificity (94.9% vs. 80.0% and 98.8%, p=0.024), positive-predictive value (96.4% vs. 92.7% and 97.2%, p=0.019), and negative-predictive value (93.7% vs. 85.7% and 91.3%, p=0.890). Low-dose CT accurately diagnosed patients with a perforated appendix. Acute appendicitis was effectively diagnosed using low-dose CT in both early and middle childhood. BMI did not influence the accuracy of detecting acute appendicitis on low-dose CT. Low-dose CT is effective and accurate for diagnosing acute appendicitis in childhood, as well as in adolescents and young adults. Additionally, low-dose CT was relatively accurate, irrespective of age or BMI, for detecting acute appendicitis. Therefore, low-dose CT is recommended for assessing children with suspected acute appendicitis. Copyright © 2017. Published by Elsevier Editora Ltda.

Development of CT and 3D-CT Using Flat Panel Detector Based Real-Time Digital Radiography System

NASA Astrophysics Data System (ADS)

Ravindran, V. R.; Sreelakshmi, C.; Vibin, Vibin

2008-09-01

The application of Digital Radiography in the Nondestructive Evaluation (NDE) of space vehicle components is a recent development in India. A Real-time DR system based on amorphous silicon Flat Panel Detector has been developed for the NDE of solid rocket motors at Rocket Propellant Plant of VSSC in a few years back. The technique has been successfully established for the nondestructive evaluation of solid rocket motors. The DR images recorded for a few solid rocket specimens are presented in the paper. The Real-time DR system is capable of generating sufficient digital X-ray image data with object rotation for the CT image reconstruction. In this paper the indigenous development of CT imaging based on the Realtime DR system for solid rocket motor is presented. Studies are also carried out to generate 3D-CT image from a set of adjacent CT images of the rocket motor. The capability of revealing the spatial location and characterisation of defect is demonstrated by the CT and 3D-CT images generated.

Iterative CT shading correction with no prior information

NASA Astrophysics Data System (ADS)

Wu, Pengwei; Sun, Xiaonan; Hu, Hongjie; Mao, Tingyu; Zhao, Wei; Sheng, Ke; Cheung, Alice A.; Niu, Tianye

2015-11-01

Shading artifacts in CT images are caused by scatter contamination, beam-hardening effect and other non-ideal imaging conditions. The purpose of this study is to propose a novel and general correction framework to eliminate low-frequency shading artifacts in CT images (e.g. cone-beam CT, low-kVp CT) without relying on prior information. The method is based on the general knowledge of the relatively uniform CT number distribution in one tissue component. The CT image is first segmented to construct a template image where each structure is filled with the same CT number of a specific tissue type. Then, by subtracting the ideal template from the CT image, the residual image from various error sources are generated. Since forward projection is an integration process, non-continuous shading artifacts in the image become continuous signals in a line integral. Thus, the residual image is forward projected and its line integral is low-pass filtered in order to estimate the error that causes shading artifacts. A compensation map is reconstructed from the filtered line integral error using a standard FDK algorithm and added back to the original image for shading correction. As the segmented image does not accurately depict a shaded CT image, the proposed scheme is iterated until the variation of the residual image is minimized. The proposed method is evaluated using cone-beam CT images of a Catphan©600 phantom and a pelvis patient, and low-kVp CT angiography images for carotid artery assessment. Compared with the CT image without correction, the proposed method reduces the overall CT number error from over 200 HU to be less than 30 HU and increases the spatial uniformity by a factor of 1.5. Low-contrast object is faithfully retained after the proposed correction. An effective iterative algorithm for shading correction in CT imaging is proposed that is only assisted by general anatomical information without relying on prior knowledge. The proposed method is thus practical

Cone Beam CT vs. Fan Beam CT: A Comparison of Image Quality and Dose Delivered Between Two Differing CT Imaging Modalities.

PubMed

Lechuga, Lawrence; Weidlich, Georg A

2016-09-12

A comparison of image quality and dose delivered between two differing computed tomography (CT) imaging modalities-fan beam and cone beam-was performed. A literature review of quantitative analyses for various image quality aspects such as uniformity, signal-to-noise ratio, artifact presence, spatial resolution, modulation transfer function (MTF), and low contrast resolution was generated. With these aspects quantified, cone beam computed tomography (CBCT) shows a superior spatial resolution to that of fan beam, while fan beam shows a greater ability to produce clear and anatomically correct images with better soft tissue differentiation. The results indicate that fan beam CT produces superior images to that of on-board imaging (OBI) cone beam CT systems, while providing a considerably less dose to the patient.

Cone Beam CT vs. Fan Beam CT: A Comparison of Image Quality and Dose Delivered Between Two Differing CT Imaging Modalities

PubMed Central

Weidlich, Georg A.

2016-01-01

A comparison of image quality and dose delivered between two differing computed tomography (CT) imaging modalities—fan beam and cone beam—was performed. A literature review of quantitative analyses for various image quality aspects such as uniformity, signal-to-noise ratio, artifact presence, spatial resolution, modulation transfer function (MTF), and low contrast resolution was generated. With these aspects quantified, cone beam computed tomography (CBCT) shows a superior spatial resolution to that of fan beam, while fan beam shows a greater ability to produce clear and anatomically correct images with better soft tissue differentiation. The results indicate that fan beam CT produces superior images to that of on-board imaging (OBI) cone beam CT systems, while providing a considerably less dose to the patient. PMID:27752404

Complications in CT-guided Procedures: Do We Really Need Postinterventional CT Control Scans?

DOE Office of Scientific and Technical Information (OSTI.GOV)

Nattenmüller, Johanna, E-mail: johanna.nattenmueller@med.uni-heidelberg.de; Filsinger, Matthias, E-mail: Matthias_filsinger@web.de; Bryant, Mark, E-mail: mark.bryant@med.uni-heidelberg.de

2013-06-19

PurposeThe aim of this study is twofold: to determine the complication rate in computed tomography (CT)-guided biopsies and drainages, and to evaluate the value of postinterventional CT control scans.MethodsRetrospective analysis of 1,067 CT-guided diagnostic biopsies (n = 476) and therapeutic drainages (n = 591) in thoracic (n = 37), abdominal (n = 866), and musculoskeletal (ms) (n = 164) locations. Severity of any complication was categorized as minor or major. To assess the need for postinterventional CT control scans, it was determined whether complications were detected clinically, on peri-procedural scans or on postinterventional scans only.ResultsThe complication rate was 2.5 % in all procedures (n = 27), 4.4 % in diagnostic punctures, and 1.0 % inmore » drainages; 13.5 % in thoracic, 2.0 % in abdominal, and 3.0 % in musculoskeletal procedures. There was only 1 major complication (0.1 %). Pneumothorax (n = 14) was most frequent, followed by bleeding (n = 9), paresthesia (n = 2), material damage (n = 1), and bone fissure (n = 1). Postinterventional control acquisitions were performed in 65.7 % (701 of 1,067). Six complications were solely detectable in postinterventional control acquisitions (3 retroperitoneal bleeds, 3 pneumothoraces); all other complications were clinically detectable (n = 4) and/or visible in peri-interventional controls (n = 21).ConclusionComplications in CT-guided interventions are rare. Of these, thoracic interventions had the highest rate, while pneumothoraces and bleeding were most frequent. Most complications can be detected clinically or peri-interventionally. To reduce the radiation dose, postinterventional CT controls should not be performed routinely and should be restricted to complicated or retroperitoneal interventions only.« less

Acetabular Global Insufficiency in Patients with Down Syndrome and Hip-Related Symptoms: A Matched-Cohort Study.

PubMed