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  1. [Joubert syndrome and related disorders].

    PubMed

    Paprocka, Justyna; Jamroz, Ewa

    2012-01-01

    The cerebellum plays a role not only in motor control but also in motor learning and cognition. Joubert syndrome is a rare heterogeneous inherited genetic disorder characterized by ataxia, hypotonia, developmental delay, and at least one of the following features: neonatal respiratory disturbances or abnormal eye movement. The estimated frequency of Joubert syndrome in the United States is around 1 : 100 000. The term Joubert syndrome and related disorders (JSRD) has been recently coined to describe all disorders presenting with molar tooth sign on brain neuroimaging. Joubert syndrome is believed to be a representative of a new group of disorders named ciliopathies. The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome. The authors focus on clinical presentation of JSRD, differential diagnosis and molecular background.

  2. Neurobehavioral development in Joubert syndrome.

    PubMed

    Gitten, J; Dede, D; Fennell, E; Quisling, R; Maria, B L

    1998-08-01

    Research on children with Joubert syndrome has focused on brain structural abnormalities and associated clinical symptoms. The degree of developmental delay has not been objectively reported. We investigated the neurobehavioral development of children with Joubert syndrome through neurobehavioral assessment in the largest sample to date. Thirty-two parents of children with Joubert syndrome completed the Child Development Inventory and magnetic resonance imaging (MRI) data was gathered on 17 of these children. Results indicate that 94% were severely impaired according to the Child Development Inventory, with age being positively correlated with degree of neurobehavioral impairment. The average developmental age of our sample was 19 months (63% below chronological age). Severity of illness as measured by the General Development scale of the Child Development Inventory and severity of illness as measured by MRI (overall severity rating) did not yield consistent data regarding severity of the midbrain and cerebellar malformations. Similarly, markers of abnormal cerebral development such as cortical atrophy and delayed myelination were independent of severity of illness ratings on the Child Development Inventory. The degree of developmental delay in Joubert syndrome and the severity of gross central nervous system malformations appear independent.

  3. Prenatal diagnosis of Joubert syndrome

    PubMed Central

    Zhu, Lingling; Xie, Limei

    2017-01-01

    Abstract Introduction: Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. Case presentation: A 22-year-old woman was pregnant at 27 1/7 weeks’ gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. Conclusions: Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on. PMID:29390414

  4. Eye Movement Abnormalities in Joubert Syndrome

    PubMed Central

    Weiss, Avery H.; Doherty, Dan; Parisi, Melissa; Shaw, Dennis; Glass, Ian; Phillips, James O.

    2011-01-01

    Purpose Joubert syndrome is a genetic disorder characterized by hypoplasia of the midline cerebellum and deficiency of crossed connections between neural structures in the brain stem that control eye movements. The goal of the study was to quantify the eye movement abnormalities that occur in Joubert syndrome. Methods Eye movements were recorded in response to stationary stimuli and stimuli designed to elicit smooth pursuit, saccades, optokinetic nystagmus (OKN), vestibulo-ocular reflex (VOR), and vergence using video-oculography or Skalar search coils in 8 patients with Joubert syndrome. All patients underwent high-resolution magnetic resonance imaging (MRI). Results All patients had the highly characteristic molar tooth sign on brain MRI. Six patients had conjugate pendular (n = 4) or see-saw nystagmus (n = 2); gaze holding was stable in four patients. Smooth-pursuit gains were 0.28 to 1.19, 0.11 to 0.68, and 0.33 to 0.73 at peak stimulus velocities of 10, 20, and 30 deg/s in six patients; smooth pursuit could not be elicited in four patients. Saccade gains in five patients ranged from 0.35 to 0.91 and velocities ranged from 60.9 to 259.5 deg/s. Targeted saccades could not be elicited in five patients. Horizontal OKN gain was uniformly reduced across gratings drifted at velocities of 15, 30, and 45 deg/s. VOR gain was 0.8 or higher and phase appropriate in three of seven subjects; VOR gain was 0.3 or less and phase was indeterminate in four subjects. Conclusions The abnormalities in gaze-holding and eye movements are consistent with the distributed abnormalities of midline cerebellum and brain stem regions associated with Joubert syndrome. PMID:19443711

  5. [Report of a case with Joubert syndrome and literature review].

    PubMed

    Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

    2011-12-01

    To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

  6. Clinical and molecular features of Joubert syndrome and related disorders

    PubMed Central

    Parisi, Melissa A.

    2009-01-01

    Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least 8 genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium. PMID:19876931

  7. Joubert syndrome with autism in two siblings: A rare presentation.

    PubMed

    Raghavan, D Vijaya; Doshi, V Vimal; Nambi, Shanthi

    2016-01-01

    Joubert syndrome is a rare autosomal recessive disorder with partial or complete agenesis of cerebellar vermis. This syndrome is identified mainly by the presence of molar tooth sign in magnetic resonance imaging of the brain since it has a varied phenotypic presentation. Of the 200 cases reported so far in the literature, only three reports show the presence of autistic symptoms in siblings suggesting a link between the cerebellar vermis and autistic spectrum disorders. In this case report of two siblings, the female child satisfied the criterion for autistic spectrum disorder in accordance with Diagnostic and Statistical Manual of Mental Disorders Fifth Editon. The boy showed developmental delay with autistic features (not amounting to diagnostic threshold). This report is important in that it adds evidence to the literature that abnormalities of cerebellum are involved in the cognitive development and autistic symptoms.

  8. Joubert syndrome: genotyping a Northern European patient cohort.

    PubMed

    Kroes, Hester Y; Monroe, Glen R; van der Zwaag, Bert; Duran, Karen J; de Kovel, Carolien G; van Roosmalen, Mark J; Harakalova, Magdalena; Nijman, Ies J; Kloosterman, Wigard P; Giles, Rachel H; Knoers, Nine V A M; van Haaften, Gijs

    2016-02-01

    Joubert syndrome (JBS) is a rare neurodevelopmental disorder belonging to the group of ciliary diseases. JBS is genetically heterogeneous, with >20 causative genes identified to date. A molecular diagnosis of JBS is essential for prediction of disease progression and genetic counseling. We developed a targeted next-generation sequencing (NGS) approach for parallel sequencing of 22 known JBS genes plus 599 additional ciliary genes. This method was used to genotype a cohort of 51 well-phenotyped Northern European JBS cases (in some of the cases, Sanger sequencing of individual JBS genes had been performed previously). Altogether, 21 of the 51 cases (41%) harbored biallelic pathogenic mutations in known JBS genes, including 14 mutations not previously described. Mutations in C5orf42 (12%), TMEM67 (10%), and AHI1 (8%) were the most prevalent. C5orf42 mutations result in a purely neurological Joubert phenotype, in one case associated with postaxial polydactyly. Our study represents a population-based cohort of JBS patients not enriched for consanguinity, providing insight into the relative importance of the different JBS genes in a Northern European population. Mutations in C5orf42 are relatively frequent (possibly due to a Dutch founder mutation) and mutations in CEP290 are underrepresented compared with international cohorts. Furthermore, we report a case with heterozygous mutations in CC2D2A and B9D1, a gene associated with the more severe Meckel-Gruber syndrome that was recently published as a potential new JBS gene, and discuss the significance of this finding.

  9. [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.

  10. 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.

  11. 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

  12. The Shepherd's Crook Sign: A New Neuroimaging Pareidolia in Joubert Syndrome.

    PubMed

    Manley, Andrew T; Maertens, Paul M

    2015-01-01

    By pareidolically recognizing specific patterns indicative of particular diseases, neuroimagers reinforce their mnemonic strategies and improve their neuroimaging diagnostic skills. Joubert Syndrome (JS) is an autosomal recessive disorder characterized clinically by mental retardation, episodes of abnormal deep and rapid breathing, abnormal eye movements, and ataxia. Many neuroimaging signs characteristic of JS have been reported. In retrospective case study, two consanguineous neonates diagnosed with JS were evaluated with brain magnetic resonance imaging (MRI), computed tomography (CT), and neurosonography. Both cranial ultrasound and MRI of the brain showed the characteristic molar tooth sign. There was a shepherd's crook in the sagittal views of the posterior fossa where the shaft of the crook is made by the brainstem and the pons. The arc of the crook is made by the abnormal superior cerebellar peduncle and cerebellar hemisphere. By ultrasound, the shepherd's crook sign was seen through the posterior fontanelle only. CT imaging also showed the shepherd's crook sign. Neuroimaging diagnosis of JS, which already involves the pareidolical recognition of specific patterns indicative of the disease, can be improved by recognition of the shepherd's crook sign on MRI, CT, and cranial ultrasound. Copyright © 2014 by the American Society of Neuroimaging.

  13. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

    PubMed Central

    Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M.; Yildirimli, Deniz; Maynard, Dawn M.; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C.; Huizing, Marjan; Gahl, William A.

    2017-01-01

    Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic “molar tooth sign” on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients’ fibroblasts. PMID:28220259

  14. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency.

    PubMed

    Stephen, Joshi; Vilboux, Thierry; Mian, Luhe; Kuptanon, Chulaluck; Sinclair, Courtney M; Yildirimli, Deniz; Maynard, Dawn M; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Huizing, Marjan; Gahl, William A; Malicdan, May Christine V; Gunay-Aygun, Meral

    2017-04-01

    Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency. Whole exome sequencing of the family identified compound heterozygous mutations in KIAA0753, i.e., a missense mutation (p.Arg257Gly) and an intronic mutation (c.2359-1G>C). The intronic mutation alters normal splicing by activating a cryptic acceptor splice site in exon 16. The novel acceptor site skips nine nucleotides, deleting three amino acids from the protein coding frame. KIAA0753 (OFIP) is a centrosome and pericentriolar satellite protein, previously not known to cause Joubert syndrome. We present comprehensive clinical descriptions of the Joubert syndrome patients as well as the cellular phenotype of defective ciliogenesis in the patients' fibroblasts.

  15. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.

    PubMed

    Sanders, Anna A W M; de Vrieze, Erik; Alazami, Anas M; Alzahrani, Fatema; Malarkey, Erik B; Sorusch, Nasrin; Tebbe, Lars; Kuhns, Stefanie; van Dam, Teunis J P; Alhashem, Amal; Tabarki, Brahim; Lu, Qianhao; Lambacher, Nils J; Kennedy, Julie E; Bowie, Rachel V; Hetterschijt, Lisette; van Beersum, Sylvia; van Reeuwijk, Jeroen; Boldt, Karsten; Kremer, Hannie; Kesterson, Robert A; Monies, Dorota; Abouelhoda, Mohamed; Roepman, Ronald; Huynen, Martijn H; Ueffing, Marius; Russell, Rob B; Wolfrum, Uwe; Yoder, Bradley K; van Wijk, Erwin; Alkuraya, Fowzan S; Blacque, Oliver E

    2015-12-29

    Joubert syndrome (JBTS) and related disorders are defined by cerebellar malformation (molar tooth sign), together with neurological symptoms of variable expressivity. The ciliary basis of Joubert syndrome related disorders frequently extends the phenotype to tissues such as the eye, kidney, skeleton and craniofacial structures. Using autozygome and exome analyses, we identified a null mutation in KIAA0556 in a multiplex consanguineous family with hallmark features of mild Joubert syndrome. Patient-derived fibroblasts displayed reduced ciliogenesis potential and abnormally elongated cilia. Investigation of disease pathophysiology revealed that Kiaa0556 (-/-) null mice possess a Joubert syndrome-associated brain-restricted phenotype. Functional studies in Caenorhabditis elegans nematodes and cultured human cells support a conserved ciliary role for KIAA0556 linked to microtubule regulation. First, nematode KIAA0556 is expressed almost exclusively in ciliated cells, and the worm and human KIAA0556 proteins are enriched at the ciliary base. Second, C. elegans KIAA0056 regulates ciliary A-tubule number and genetically interacts with an ARL13B (JBTS8) orthologue to control cilium integrity. Third, human KIAA0556 binds to microtubules in vitro and appears to stabilise microtubule networks when overexpressed. Finally, human KIAA0556 biochemically interacts with ciliary proteins and p60/p80 katanins. The latter form a microtubule-severing enzyme complex that regulates microtubule dynamics as well as ciliary functions. We have identified KIAA0556 as a novel microtubule-associated ciliary base protein mutated in Joubert syndrome. Consistent with the mild patient phenotype, our nematode, mice and human cell data support the notion that KIAA0556 has a relatively subtle and variable cilia-related function, which we propose is related to microtubule regulation.

  16. Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.

    PubMed

    Arrigoni, F; Romaniello, R; Peruzzo, D; De Luca, A; Parazzini, C; Valente, E M; Borgatti, R; Triulzi, F

    2017-12-01

    In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra- and infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the TMEM67 gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature. © 2017 by American Journal of Neuroradiology.

  17. Parental burden, coping, and family functioning in primary caregivers of children with Joubert syndrome.

    PubMed

    Luescher, J L; Dede, D E; Gitten, J C; Fennell, E; Maria, B L

    1999-10-01

    Children with Joubert syndrome have physical and intellectual disabilities. The purpose of this study was to assess the impact of Joubert syndrome on parental burden, coping, and family functioning. Forty-nine primary caregivers were surveyed. Forty-three primary caregivers were mothers and six were fathers; their mean age was 34 years. The following measures were used: Beck Depression Inventory, Child Development Inventory, Caregiver Strain Index, Family Assessment Device, and Ways of Coping Checklist-Revised. The data show that caregiver burden is not related to the severity of the child's illness, but that caregivers report significant burden. Higher burden was associated with the use of palliative coping methods, and family functioning was problematic. The results of this study suggest that for parents of children with Joubert syndrome, degree of parental burden depends more on the parents' coping skills and the level of family functioning rather than on the degree of the child's impairment. These findings highlight the importance of assessing caregiver burden, as well as decreased family functioning or coping abilities, since these problems often can be managed with psychologic intervention.

  18. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.

    PubMed

    Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; Nickerson, Elizabeth; Elkhartoufi, Nadia; Scott, Eric; Spencer, Emily; Gabriel, Stacey; Thomas, Sophie; Ben-Zeev, Bruria; Bertini, Enrico; Boltshauser, Eugen; Chaouch, Malika; Cilio, Maria Roberta; de Jong, Mirjam M; Kayserili, Hulya; Ogur, Gonul; Poretti, Andrea; Signorini, Sabrina; Uziel, Graziella; Zaki, Maha S; Johnson, Colin; Attié-Bitach, Tania; Gleeson, Joseph G; Valente, Enza Maria

    2013-10-01

    Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.

  19. Prenatal diagnosis of Joubert syndrome: A case report and literature review.

    PubMed

    Zhu, Lingling; Xie, Limei

    2017-12-01

    Joubert syndrome (JS) is a rare autosomal recessive inherited disease belonging to ciliopathy with the causative mutation of genes. Except for X-linked inheritance, the high recurrence rate of a family is about 25%. After birth, it may cause a series of neurological symptoms, even with retina, kidney, liver, and other organ abnormalities, which is defined as Joubert syndrome and related disorders (JSRD). Molecular genetics research contributes to disease prediction and genetic counseling. Prenatal diagnosis is rare. Magnetic resonance imaging (MRI) is usually the first-choice diagnostic modality with typical brain images characterized by the molar tooth sign. We describe a case of JS prenatally and Dandy-Walker malformation for the differential diagnosis based on ultrasonograms. We also review the etiology, imaging features, clinical symptoms, and diagnosis of JSRD. A 22-year-old woman was pregnant at 27 1/7 weeks' gestation with fetal cerebellar vermis hypoplasia. Fetal ultrasonography and MRI confirmed a diagnosis of JS at our center. The couple finally opted to terminate the fetus, which had a normal appearance and growth parameters. The couple also had an AHI1 gene mutation on chromosome 6. Currently, a diagnosis of JS is commonly made after birth. Fewer cases of prenatal diagnosis by ultrasonography have been made, and they are more liable to be misdirected because of some nonspecial features that also manifest in Dandy-Walker malformation, cranio-cerebello-cardiac syndrome, and so on. Copyright © 2017 The Authors. Published by Wolters Kluwer Health, Inc. All rights reserved.

  20. Homozygosity mapping of a third Joubert syndrome locus to 6q23

    PubMed Central

    Lagier-Tourenne, C; Boltshauser, E; Breivik, N; Gribaa, M; Betard, C; Barbot, C; Koenig, M

    2004-01-01

    Background: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features. JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys. JS is also genetically heterogeneous, with two known loci, on 9q34 (JBTS1) and 11p11-q12 (CORS2), representing only a fraction of cases. Methods: A large consanguineous Joubert family (five affected) was analysed for linkage with a marker set covering the entire genome and 16 smaller families were subsequently tested for candidate loci. Results: We report here the identification of a third locus in 6q23 (JBTS3) from the study of two consanguineous families. LOD score calculation, including the consanguinity loops, gave a maximum value of 4.1 and 2.3 at q = 0 for the two families, respectively. Conclusions: Linkage between the disease and the D6S1620–D6S1699 haplotype spanning a 13.1 cM interval is demonstrated. Genotype-phenotype studies indicate that, unlike CORS2, JBTS3 appears not to be associated with renal dysfunction. PMID:15060101

  1. CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    PubMed

    Vilboux, Thierry; Malicdan, May Christine V; Roney, Joseph C; Cullinane, Andrew R; Stephen, Joshi; Yildirimli, Deniz; Bryant, Joy; Fischer, Roxanne; Vemulapalli, Meghana; Mullikin, James C; Steinbach, Peter J; Gahl, William A; Gunay-Aygun, Meral

    2017-03-01

    Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic "molar tooth sign" on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  2. 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 ...

  3. 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

  4. 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

  5. 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

  6. 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/

  7. 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.

  8. 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

  9. 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.

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

    PubMed Central

    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.

    2017-01-01

    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. PMID:28679688

  11. 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.

  12. 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

  13. 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

  14. Arima syndrome caused by CEP290 specific variant and accompanied with pathological cilium; clinical comparison with Joubert syndrome and its related diseases.

    PubMed

    Itoh, Masayuki; Ide, Shuhei; Iwasaki, Yuji; Saito, Takashi; Narita, Keishi; Dai, Hongmei; Yamakura, Shinji; Furue, Takeki; Kitayama, Hirotsugu; Maeda, Keiko; Takahashi, Eihiko; Matsui, Kiyoshi; Goto, Yu-Ichi; Takeda, Sen; Arima, Masataka

    2018-04-01

    Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients. All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290 kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome. Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  15. 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.

  16. 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

  17. 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

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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

  3. 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 ...

  4. 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.

  5. 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

  6. 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.

  7. 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.

  8. 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.

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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

  14. 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

  15. 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.

  16. 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

  17. 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.

  18. 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

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

    SciTech Connect

    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

  20. 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).

  1. 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.

  2. 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.

  3. 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

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

    SciTech Connect

    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.

  5. 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.

  6. 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.

  7. 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.

  8. [(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.

  9. 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.

  10. 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

  11. 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.

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

    SciTech Connect

    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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. "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.

  5. 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.

  6. 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

  7. [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

  8. 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.

  9. 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.

  10. Cerebral Hypoperfusion in Posterior Reversible Encephalopathy Syndrome is Different from Transient Ischemic Attack on CT Perfusion.

    PubMed

    Vanacker, Peter; Matias, Gonçalo; Hagmann, Patric; Michel, Patrik

    2015-01-01

    PRES is a reversible neurotoxic state presenting with headache, altered mental status, visual loss, and seizures. Delayed diagnosis can be avoided if radiological patterns could distinguish PRES from cerebral ischemia. Clinical and radiological data were collected on all hospitalized patients who had (1) discharge diagnosis of PRES and (2) acute CTP/CTA. Data were compared with 10 TIA patients with proven cytotoxic edema on MRI. Of the four PRES patients found, three were correlated with acute blood pressure and one with chemotherapy. At the radiological level, quantitative analyses of the CTP parameters showed that 2 out of 4 patients had bilaterally reduced CBF-values (23.2-47.1 ml/100g/min) in occipital regions, as seen in the pathological regions of TIA patients (27.3 ± 13.5 ml/100g/min). When compared with TIA patients, the pathological ROI's demonstrated decreased CBV-values (3.4-5.6 ml/100g). Vasogenic edema on MRI FLAIR imaging was seen in only one PRES patient, and cytotoxic edema on DWI-imaging was never found. CT angiography showed in one PRES patient a vasospasm-like unilateral posterior cerebral artery. If confirmed by other groups, CTP and CTA imaging in patients with acute visual loss and confusion may help to distinguish PRES from bi-occipital ischemia. These radiological parameters may identify PRES patients at risk for additional tissue infarction. Copyright © 2014 by the American Society of Neuroimaging.

  11. 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

  12. 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

  13. 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.

  14. 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.

  15. 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.

  16. 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.

  17. Pituitary and ovarian abnormalities demonstrated by CT and ultrasound in children with features of the McCune-Albright syndrome

    SciTech Connect

    Rieth, K.G.; Comite, F.; Shawker, T.H.

    1984-11-01

    In a random series of 97 children referred to the National Institutes of Health with a presumptive diagnosis of precocious puberty, eight girls were found to have features of the McCune-Albright syndrome, including fibrous dysplasia of bone and/or skin lesions resembling cafe au lait spots. Radiographic evaluation of these patients included computed tomography of the head and pelvic ultrasound. The pituitary glands were suspicious for abnormality in five of the eight girls. Seven girls underwent pelvic ultrasound, and in all of them the ovaries were considered to be abnormal for their chronological age; in addition, two had functional ovarian cysts.more » The role of diagnostic radiological studies in the diagnosis of this syndrome is discussed.« less

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. Application of CT perfusion to assess hemodynamics in symptomatic Moyamoya syndrome: focus on affected side and parameter characteristic.

    PubMed

    Huang, Shuran; Gao, Lingyun; Chen, Yueqin; Guo, Xiang; Liu, Deguo; Wang, Jiehuan; Shi, Zhitao; Sun, Zhanguo; Jin, Feng; Chen, Weijian; Yang, Yunjun

    2018-01-27

    Vascular and hemodynamic changes were not consistent in symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic moyamoya syndrome (MMS). Thus, the purpose of this study is to evaluate the hemodynamic difference between symptomatic and non-symptomatic cerebral hemisphere in patients with symptomatic MMS. Patients who were diagnosed with symptomatic MMS were retrospectively collected. All cases underwent CTP examination. Regions of interest (ROIs) were chosen in the mirroring bilateral frontal lobes, temporal lobes, the basal ganglia, and the brainstem as control region. The relative perfusion parameter values of symptomatic side were compared with non-symptomatic side. Of the 40 patients, 33 patients were taken into assessment. In all cases (n = 33), rCBF, rMTT, and rTTP in all regions of interest (ROIs) of the symptomatic side were significantly different from those of contralateral side. In unilateral MMS patients (n = 7), rCBF values were not significantly different between two sides in the temporal lobe and basal ganglia area; rTTP values were significantly higher in the symptomatic side. rMTT values were significantly higher only in the temporal lobe of symptomatic side. In bilateral MMS patients (n = 26), rCBF and rMTT in all ROIs of the symptomatic side were significantly different from those of contralateral side. However, there were no significant differences between two sides in all ROIs on rTTP values. This study demonstrates that rCBF and rMTT were more sensitive than rTTP for evaluating hemodynamic changes in patients with symptomatic bilateral MMS. Furthermore, patients with unilateral MMS may have a preserved rCBF compared to those with bilateral disease.

  3. 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.

  4. 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

  5. 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 ...

  6. 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 ...

  7. 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- ...

  8. Relationship Between C-Reactive Protein Serum Concentration and the 1846 C>T (rs1205) Polymorphism in Patients with Acute Coronary Syndrome from Western Mexico.

    PubMed

    Reynoso-Villalpando, Gabriela Lizet; Padilla-Gutiérrez, Jorge Ramón; Valdez-Haro, Angélica; Casillas-Muñoz, Fidel; Muñoz-Valle, José Francisco; Castellanos-Nuñez, Edgar; Chávez-Herrera, Juan Carlos; Valle, Yeminia

    2017-05-01

    To determine the relationship among the 1846 C>T (rs1205) polymorphism, C-reactive protein (CRP) concentration, and interleukin 6 (IL-6) serum levels in patients with acute coronary syndrome (ACS) from Western Mexico. Three hundred participants in the control group (CG) and 300 patients with ACS from Western Mexico were included in the study. Genotyping was performed with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). High-sensitivity CRP (hs-CRP) concentration was measured by immunonephelometry. For IL-6 measurement, we used a solid-phase sandwich Enzyme-Linked Immunosorbent Assay. Serum CRP concentration was increased in patients compared with controls (19 mg/L vs. 2.00 mg/L; p < 0.0001). ST-segment elevation myocardial infarction exhibited a higher CRP concentration than without elevation (non-ST-segment elevation myocardial infarction) and patients with unstable angina (21.81, 17.10, and 5.91 mg/L; p < 0.01). The rs1205 CRP polymorphism was not associated with ACS; however, T carriers had lower CRP concentrations than C/C (2.80 mg/L vs. 5.20 mg/L; p = 0.004) in CG and ACS (17.76 vs. 21.45; p = 0.046). IL-6 showed a strong positive correlation with CRP concentration in ACS patients (rho = 0.74, p < 0.0001). Patients with ACS had increased CRP levels compared with CG, and this appears to be related with ACS clinical spectrum severity. The rs1205 polymorphism is not a susceptibility genetic marker to ACS in Western Mexico population; however, the T allele is associated with lower CRP concentration. Further studies are needed to confirm the prognostic value of ACS and IL-6/CRP correlation, but it could be a reliable test for predicting adverse cardiac events in the Mexican population.

  9. 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.

  10. 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 ...

  11. 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.

  12. Performance of highly sensitive cardiac troponin T assay to detect ischaemia at PET-CT in low-risk patients with acute coronary syndrome: a prospective observational study.

    PubMed

    Morawiec, Beata; Fournier, Stephane; Tapponnier, Maxime; Prior, John O; Monney, Pierre; Dunet, Vincent; Lauriers, Nathalie; Recordon, Frederique; Trana, Catalina; Iglesias, Juan-Fernando; Kawecki, Damian; Boulat, Olivier; Bardy, Daniel; Lamsidri, Sabine; Eeckhout, Eric; Hugli, Olivier; Muller, Olivier

    2017-07-10

    Highly sensitive troponin T (hs-TnT) assay has improved clinical decision-making for patients admitted with chest pain. However, this assay's performance in detecting myocardial ischaemia in a lowrisk population has been poorly documented. To assess hs-TnT assay's performance to detect myocardial ischaemia at positron emission tomography/CT (PET-CT) in low-risk patients admitted with chest pain. Patients admitted for chest pain with a nonconclusive ECG and negative standard cardiac troponin T results at admission and after 6 hours were prospectively enrolled. Their hs-TnT samples were at T0, T2 and T6. Physicians were blinded to hs-TnT results. All patients underwent a PET-CT at rest and during adenosine-induced stress. All patients with a positive PET-CT result underwent a coronary angiography. Forty-eight patients were included. Six had ischaemia at PET-CT. All of them had ≥1 significant stenosis at coronary angiography. Areas under the curve (95% CI) for predicting significant ischaemia at PET-CT using hs-TnT were 0.764 (0.515 to 1.000) at T0, 0.812(0.616 to 1.000) at T2 and 0.813(0.638 to 0.989) at T6. The receiver operating characteristicbased optimal cut-off value for hs-TnT at T0, T2 and T6 needed to exclude significant ischaemia at PET-CT was <4 ng/L. Using this value, sensitivity, specificity, positive and negative predictive values of hs-TnT to predict significant ischaemia were 83%/38%/16%/94% at T0, 100%/40%/19%/100% at T2 and 100%/43%/20%/100% at T6, respectively. Our findings suggest that in low-risk patients, using the hs-TnT assay with a cut-off value of 4 ng/L demonstrates excellent negative predictive value to exclude myocardial ischaemia detection at PET-CT, at the expense of weak specificity and positive predictive value. ClinicalTrials.gov Identifier: NCT01374607. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly

  13. 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.

  14. 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

  15. Rare Case of Intratracheal Metastasis Detected on 68Ga-Prostate-Specific Membrane Antigen PET/CT Scan in a Case of Thyroglobulin Elevated Negative Iodine Scan Syndrome.

    PubMed

    Sasikumar, Arun; Joy, Ajith; Pillai, M R A; Oommen, Karuna Elza; Jayakumar, R

    2018-04-01

    A 64-year-old woman underwent completion thyroidectomy with upper tracheal ring resection and right-sided neck dissection for papillary carcinoma of the thyroid infiltrating the trachea and was given I radioiodine treatment. Three years later, she presented with hemoptysis. On evaluation, she had increased serum thyroglobulin and negative iodine scan (TENIS). F-FDG PET/CT scan did not identify any site of disease. One year later, Ga-PSMA scan done revealed a moderate focal tracer-avid intratracheal soft tissue; biopsy revealed it to be metastatic papillary carcinoma of the thyroid. This case kindles the possibility of using Ga-PSMA PET/CT to reveal occult disease in cases of TENIS.

  16. 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.

  17. 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

  18. Thoracic CT

    MedlinePlus

    ... CT scan Vertebra, thoracic (mid back) Normal lung anatomy Thoracic organs References Gotway MB, Panse PM, Gruden JF, Elicker BM. Thoracic radiology. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine . 6th ed. Philadelphia, PA: Elsevier ...

  19. CT Scan

    MedlinePlus

    ... people who may have internal injuries from car accidents or other types of trauma. A CT scan can be used to visualize nearly all parts of the body and is used to diagnose disease or injury as well as to plan medical, surgical or radiation treatment. Why it's done Your doctor may recommend ...

  20. 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 ...

  1. 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 ...

  2. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome.

    PubMed

    Schönewolf-Greulich, B; Tejada, M-I; Stephens, K; Hadzsiev, K; Gauthier, J; Brøndum-Nielsen, K; Pfundt, R; Ravn, K; Maortua, H; Gener, B; Martínez-Bouzas, C; Piton, A; Rouleau, G; Clayton-Smith, J; Kleefstra, T; Bisgaard, A-M; Tümer, Z

    2016-06-01

    Missense MECP2 variants can have various phenotypic effects ranging from a normal phenotype to typical Rett syndrome (RTT). In females, the phenotype can also be influenced by the X-inactivation pattern. In this study, we present detailed clinical descriptions of six patients with a rare base-pair substitution affecting Arg309 at the C-terminal end of the transcriptional repression domain (TRD). All patients have intellectual disability and present with some RTT features, but they do not fulfill the clinical criteria for typical or atypical RTT. Most of the patients also have mild facial dysmorphism. Intriguingly, the mother of an affected male patient is an asymptomatic carrier of this variant. It is therefore likely that the p.(Arg309Trp) variation does not necessarily lead to male lethality, and it results in a wide range of clinical features in females, probably influenced by different X-inactivation patterns in target tissues. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  3. 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 ...

  4. 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 ...

  5. 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 ...

  6. 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 ...

  7. 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 ...

  8. 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 ...

  9. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.

    PubMed

    Colombi, Marina; Dordoni, Chiara; Venturini, Marina; Zanca, Arianna; Calzavara-Pinton, Piergiacomo; Ritelli, Marco

    2017-02-01

    Classical Ehlers-Danlos syndrome (cEDS) is a rare connective tissue disorder primarily characterized by hyperextensible skin, defective wound healing, abnormal scars, easy bruising, and generalized joint hypermobility; arterial dissections are rarely observed. Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized. In addition, cEDS phenotype was reported in a small number of patients carrying the c.934C>T mutation in COL1A1 that results in an uncommon substitution of a non-glycine residue in one Gly-Xaa-Yaa repeat of the pro-α1(I)-chain p.(Arg312Cys), which leads to disturbed collagen fibrillogenesis due to delayed removal of the type I procollagen N-propeptide. This specific mutation has been associated with propensity to arterial rupture in early adulthood; indeed, in literature the individuals harboring this mutation are also referred to as "(classic) vascular-like" EDS patients. Herein, we describe a three-generation cEDS family with six adults carrying the p.(Arg312Cys) substitution, which show a variable and prevalent cutaneous involvement without any major vascular event. These data, together with those available in literature, suggest that vascular events are not a diagnostic handle to differentiate patients with the p.(Arg312Cys) COL1A1 mutation from those with COL5A1 and COL5A2 defects, and highlight that during the diagnostic process the presence of at least the p.(Arg312Cys) substitution in COL1A1 should be investigated in cEDS patients without type V collagen mutations. Nevertheless, for these patients, as well as for those affected with cEDS, a periodical vascular surveillance should be carried out together with cardiovascular risk factors monitoring. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. [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.

  11. 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 ...

  12. 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- ...

  13. Duane Syndrome

    MedlinePlus

    ... is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), is a congenital and non-progressive ... Is Duane syndrome congenital (present from birth)? Duane retraction syndrome is present from birth, even if it ...

  14. 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.

  15. 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: ...

  16. 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 ...

  17. 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 ...

  18. 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 ...

  19. 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 ...

  20. 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 ...

  1. LEOPARD syndrome

    MedlinePlus

    Multiple lentigines syndrome; Noonan syndrome with multiple lentigines ... Genetics Home Reference -- ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines National Organization for Rare Disorders -- ...

  2. Cushing syndrome

    MedlinePlus

    Hypercortisolism; Cortisol excess; Glucocorticoid excess - Cushing syndrome ... The most common cause of Cushing syndrome is taking too much ... Cushing syndrome . Prednisone, dexamethasone, and prednisolone ...

  3. 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

  4. 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.

  5. Fanconi syndrome

    MedlinePlus

    De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

  6. 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.

  7. Tuberculous peritonitis: CT appearance

    SciTech Connect

    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.

  8. 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 ( ...

  9. 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 ...

  10. 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 ...

  11. 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 ...

  12. Aarskog syndrome

    MedlinePlus

    Aarskog disease; Aarskog-Scott syndrome; AAS; Faciodigitogenital syndrome; Gaciogenital dysplasia ... Aarskog syndrome is a genetic disorder that is linked to the X chromosome. It affects mainly males, but females ...

  13. Marfan Syndrome

    MedlinePlus

    Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, ... A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and ...

  14. Malabsorption Syndromes

    MedlinePlus

    ... foods you eat. If you have a malabsorption syndrome, your small intestine cannot absorb nutrients from foods. Causes of malabsorption syndromes include Celiac disease Lactose intolerance Short bowel syndrome. ...

  15. Williams syndrome

    MedlinePlus

    ... with Williams syndrome may show: A flattened nasal bridge with small upturned nose Long ridges in the ... Alternative Names Williams-Beuren syndrome Images Low nasal bridge Chromosomes and DNA References Morris CA. Williams syndrome. ...

  16. 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.

  17. 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.

  18. 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

  19. 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.

  20. Orbit CT scan

    MedlinePlus

    ... You will be asked to remove jewelry and wear a hospital gown during the study. If you weigh more than 300 pounds (135 kilograms), find out if the CT machine has a weight limit. Too much weight can ...

  1. Abdominal and Pelvic CT

    MedlinePlus Videos and Cool Tools

    ... preferable over CT scanning. top of page Additional Information and Resources RTAnswers.org: Radiation Therapy for Bladder ... Send us your feedback Did you find the information you were looking for? Yes No Please type ...

  2. Pediatric CT Scans

    Cancer.gov

    The Radiation Epidemiology Branch and collaborators have initiated a retrospective cohort study to evaluate the relationship between radiation exposure from CT scans conducted during childhood and adolescence and the subsequent development of cancer.

  3. CT angiography - chest

    MedlinePlus

    ... aortic aneurysm - CTA chest; Venous thromboembolism - CTA lung; Blood clot - CTA lung; Embolus - CTA lung; CT pulmonary angiogram ... angiogram may be done: For symptoms that suggest blood clots in the lungs, such as chest pain, rapid ...

  4. Kindler syndrome.

    PubMed

    Kaviarasan, P K; Prasad, P V S; Shradda; Viswanathan, P

    2005-01-01

    Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with phimosis as a complication.

  5. [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.

  6. [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.

  7. [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.

  8. Kindler syndrome.

    PubMed

    Lai-Cheong, Joey E; McGrath, John A

    2010-01-01

    Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 gene are the cause of Kindler syndrome. Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB). During infancy and childhood, there is clinical overlap between Kindler syndrome and dystrophic EB. Unlike other forms of EB, Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction. This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management.

  9. CT of abdominal tuberculosis

    SciTech Connect

    Epstein, B.M.; Mann, J.H.

    1982-11-01

    Intraabdominal tuberculosis (TB) presents with a wide variety of clinical and radiologic features. Besides the reported computed tomographic (CT) finding of high-density ascites in tuberculous peritonitis, this report describes additional CT features highly suggestive of abdominal tuberculosis in eight cases: (1) irregular soft-tissue densities in the omental area; (2) low-density masses surrounded by thick solid rims; (3) a disorganized appearance of soft-tissue densities, fluid, and bowel loops forming a poorly defined mass; (4) low-density lymph nodes with a multilocular appearance after intravenous contrast administration; and (5) possibly high-density ascites. The differential diagnosis of these features include lymphoma, various forms ofmore » peritonitis, peritoneal carcinomatosis, and peritoneal mesothelioma. It is important that the CT features of intraabdominal tuberculosis be recognized in order that laparotomy be avoided and less invasive procedures (e.g., laparoscopy, biopsy, or a trial of antituberculous therapy) be instituted.« less

  10. Piriformis syndrome

    MedlinePlus

    Pseudosciatica; Wallet sciatica; Hip socket neuropathy; Pelvic outlet syndrome; Low back pain - piriformis ... Sciatica is the main symptom of piriformis syndrome. Other symptoms include: Tenderness or a dull ache in ...

  11. Cushing's Syndrome

    MedlinePlus

    Cushing's syndrome is a hormonal disorder. The cause is long-term exposure to too much cortisol, a hormone that ... your body to make too much cortisol. Cushing's syndrome is rare. Some symptoms are Upper body obesity ...

  12. Usher Syndrome

    MedlinePlus

    Usher syndrome is an inherited disease that causes serious hearing loss and retinitis pigmentosa, an eye disorder that causes ... and vision. There are three types of Usher syndrome: People with type I are deaf from birth ...

  13. Rett Syndrome

    MedlinePlus

    Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. ...

  14. Reye Syndrome

    MedlinePlus

    Reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently ... a viral illness, seek medical attention immediately. Reye syndrome can lead to a coma and brain death, ...

  15. Myelodysplastic Syndromes

    MedlinePlus

    ... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

  16. Turner Syndrome

    MedlinePlus

    Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

  17. Felty syndrome

    MedlinePlus

    Seropositive rheumatoid arthritis (RA); Felty's syndrome ... The cause of Felty syndrome is unknown. It is more common in people who have had rheumatoid arthritis (RA) for a long time. People with ...

  18. Myelodysplastic Syndromes

    MedlinePlus

    ... such as tobacco, benzene and pesticides, or to heavy metals, such as lead. Types of myelodysplastic syndromes The ... and industrial chemicals, such as benzene. Exposure to heavy metals. Heavy metals linked to myelodysplastic syndromes include lead ...

  19. Angelman Syndrome

    MedlinePlus

    ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ... heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, ...

  20. Zellweger Syndrome

    MedlinePlus

    ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ... Institutes of Health (NIH), conduct research exploring the molecular and genetic basis of Zellweger syndrome and the other PBDs, ...

  1. Reye syndrome

    MedlinePlus

    ... syndrome has occurred in children who were given aspirin when they had chickenpox or the flu. Reye syndrome has become very rare. This is because aspirin is no longer recommended for routine use in ...

  2. 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.

  3. Down Syndrome

    MedlinePlus

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  4. Velocardiofacial Syndrome

    ERIC Educational Resources Information Center

    Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

    2009-01-01

    Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

  5. Thoracic spine CT scan

    MedlinePlus

    ... take this medicine. Find out if the CT machine has a weight limit if you weigh more than 300 pounds (135 kilograms). Too much weight can cause damage to the scanner. You will be asked to remove jewelry and wear a hospital gown during the study.

  6. [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.

  7. Refeeding syndrome.

    PubMed

    Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

    2009-01-01

    Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly.

  8. 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.

  9. 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.

  10. 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- ...

  11. 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

  12. 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.

  13. Gorlin syndrome.

    PubMed

    Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

    2013-05-01

    Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis.

  14. Proteus syndrome*

    PubMed Central

    Rocha, Ritha de Cássia Capelato; Estrella, Mariani Paulino Soriano; do Amaral, Danielle Mechereffe; Barbosa, Angela Marques; de Abreu, Marilda Aparecida Milanez Morgado

    2017-01-01

    Proteus syndrome is a rare syndrome characterized by disproportionate overgrowth of limbs, multiple hamartomas, and vascular malformations. The cerebriform connective tissue nevi, also called cerebriform plantar hyperplasia, are present in most patients, and is the main characteristic of the syndrome. If present, even alone, they can be considered as a pathognomonic sign. This article reports a classic case of Proteus syndrome in a 2-year-old male patient who began to show a discrete asymmetry of the right hemibody in relation to the left one after birth, which increased over the months. He also showed cerebriform plantar hyperplasia and Port-wine stains, among other alterations. PMID:29166516

  15. Goodpasture syndrome

    MedlinePlus

    ... pulmonary hemorrhage; Pulmonary renal syndrome; Glomerulonephritis - pulmonary hemorrhage Images Kidney blood supply References Appel GB, Radhakrishnan J, D'Agati V. Secondary glomerular disease. In: Skorecki ...

  16. Marfan Syndrome (For Teens)

    MedlinePlus

    ... genetic disorder called Marfan syndrome. What Is Marfan Syndrome? Marfan syndrome is named after Antoine Marfan, the French ... immediately. What's Life Like for Teens With Marfan Syndrome? Marfan syndrome affects people differently, so life is not ...

  17. Seckel syndrome: an overdiagnosed syndrome.

    PubMed Central

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There remains a heterogeneous group of low birth weight microcephalic dwarfism yet to be defined. Images PMID:4040172

  18. [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.

  19. Tourette Syndrome

    MedlinePlus

    If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat- ... spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It ...

  20. Postthrombotic Syndrome

    MedlinePlus

    ... Rondina MT. Contemporary issues in the prevention and management of postthrombotic syndrome. Ann Pharmacother . 2009 ; 43 : 1824 –1835. OpenUrl CrossRef PubMed ↵ Kahn SR, Ginsberg JS. Relationship between deep venous thrombosis and the postthrombotic syndrome. ...

  1. Aicardi Syndrome

    MedlinePlus

    ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org http://www.aicardisyndrome. ... Aicardi Syndrome Foundation P.O. Box 3202 St. Charles IL St. Charles, IL 60174 web@aicardisyndrome.org ...

  2. Sjogren's Syndrome

    MedlinePlus

    ... symptoms. Symptoms The two main symptoms of Sjogren's syndrome are: Dry eyes. Your eyes might burn, itch or feel gritty — ... mouth is dry. Yeast infections. People with Sjogren's syndrome are much ... Vision problems. Dry eyes can lead to light sensitivity, blurred vision and ...

  3. [Cotard syndrome].

    PubMed

    Simovici, G; Bauer, A

    1996-01-01

    We describe a schizophrenic paranoid patient, who developed a unique clinical state that fits the Cotard syndrome. The article deals with the course of the disease, the clinical characteristics, the difficulties of treatment. The process of diagnosis and its difficulties, and the rareness of the symptoms are emphasized. Various etiological causes of the syndrome are discussed.

  4. Poland syndrome

    PubMed Central

    Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K.; Agrawal, Ravi P.

    2014-01-01

    Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India. PMID:24959021

  5. Poland syndrome.

    PubMed

    Sharma, Chandra Madhur; Kumar, Shrawan; Meghwani, Manoj K; Agrawal, Ravi P

    2014-01-01

    Poland's syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.

  6. Horner Syndrome

    MedlinePlus

    ... at birth Tumor of the hormonal and nervous systems (neuroblastoma) Unknown causes In some cases the cause of Horner syndrome cannot be identified. This is known as idiopathic Horner syndrome. By Mayo Clinic Staff . Mayo Clinic Footer Legal Conditions and Terms Any use of this site ...

  7. Prostatitis Syndromes

    PubMed Central

    Nickel, J. Curtis

    1991-01-01

    The many prostatitis syndromes remain a frustrating enigma to family physicians as well as specialists. An understanding of the etiology and pathophysiology of these syndromes and a rigorous diagnostic plan to properly classify the patients at first presentation are essential to a successful treatment outcome. ImagesFigure 1 PMID:21229071

  8. Brugada Syndrome

    MedlinePlus

    ... A telltale abnormality — called a type 1 Brugada ECG pattern — is detected by an electrocardiogram (ECG) test. Brugada syndrome is much more common in ... syndrome is an abnormal pattern on an electrocardiogram (ECG) called a type 1 Brugada ECG pattern. You ...

  9. TAFRO Syndrome.

    PubMed

    Igawa, Takuro; Sato, Yasuharu

    2018-02-01

    TAFRO syndrome is a newly recognized variant of idiopathic multicentric Castleman disease (iMCD) that involves a constellation of syndromes: thrombocytopenia (T), anasarca (A), fever (F), reticulin fibrosis (R), and organomegaly (O). Thrombocytopenia and severe anasarca accompanied by relatively low serum immunoglobulin levels are characteristic clinical findings of TAFRO syndrome that are not present in iMCD-not otherwise specified (iMCD-NOS). Lymph node biopsy is recommended to exclude other diseases and to diagnose TAFRO syndrome, which reveals characteristic histopathological findings similar to hyaline vascular-type CD. TAFRO syndrome follows a more aggressive course, compared with iMCD-NOS, and there is no standard treatment. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. 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

  11. [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.

  12. 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

  13. [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.

  14. Hybrid spectral CT reconstruction

    PubMed Central

    Clark, Darin P.

    2017-01-01

    Current photon counting x-ray detector (PCD) technology faces limitations associated with spectral fidelity and photon starvation. One strategy for addressing these limitations is to supplement PCD data with high-resolution, low-noise data acquired with an energy-integrating detector (EID). In this work, we propose an iterative, hybrid reconstruction technique which combines the spectral properties of PCD data with the resolution and signal-to-noise characteristics of EID data. Our hybrid reconstruction technique is based on an algebraic model of data fidelity which substitutes the EID data into the data fidelity term associated with the PCD reconstruction, resulting in a joint reconstruction problem. Within the split Bregman framework, these data fidelity constraints are minimized subject to additional constraints on spectral rank and on joint intensity-gradient sparsity measured between the reconstructions of the EID and PCD data. Following a derivation of the proposed technique, we apply it to the reconstruction of a digital phantom which contains realistic concentrations of iodine, barium, and calcium encountered in small-animal micro-CT. The results of this experiment suggest reliable separation and detection of iodine at concentrations ≥ 5 mg/ml and barium at concentrations ≥ 10 mg/ml in 2-mm features for EID and PCD data reconstructed with inherent spatial resolutions of 176 μm and 254 μm, respectively (point spread function, FWHM). Furthermore, hybrid reconstruction is demonstrated to enhance spatial resolution within material decomposition results and to improve low-contrast detectability by as much as 2.6 times relative to reconstruction with PCD data only. The parameters of the simulation experiment are based on an in vivo micro-CT experiment conducted in a mouse model of soft-tissue sarcoma. Material decomposition results produced from this in vivo data demonstrate the feasibility of distinguishing two K-edge contrast agents with a spectral

  15. Thoracic textilomas: CT findings*

    PubMed Central

    Machado, Dianne Melo; Zanetti, Gláucia; Araujo, Cesar Augusto; Nobre, Luiz Felipe; Meirelles, Gustavo de Souza Portes; Pereira e Silva, Jorge Luiz; Guimarães, Marcos Duarte; Escuissato, Dante Luiz; Souza, Arthur Soares; Hochhegger, Bruno; Marchiori, Edson

    2014-01-01

    OBJECTIVE: The aim of this study was to analyze chest CT scans of patients with thoracic textiloma. METHODS: This was a retrospective study of 16 patients (11 men and 5 women) with surgically confirmed thoracic textiloma. The chest CT scans of those patients were evaluated by two independent observers, and discordant results were resolved by consensus. RESULTS: The majority (62.5%) of the textilomas were caused by previous heart surgery. The most common symptoms were chest pain (in 68.75%) and cough (in 56.25%). In all cases, the main tomographic finding was a mass with regular contours and borders that were well-defined or partially defined. Half of the textilomas occurred in the right hemithorax and half occurred in the left. The majority (56.25%) were located in the lower third of the lung. The diameter of the mass was ≤ 10 cm in 10 cases (62.5%) and > 10 cm in the remaining 6 cases (37.5%). Most (81.25%) of the textilomas were heterogeneous in density, with signs of calcification, gas, radiopaque marker, or sponge-like material. Peripheral expansion of the mass was observed in 12 (92.3%) of the 13 patients in whom a contrast agent was used. Intraoperatively, pleural involvement was observed in 14 cases (87.5%) and pericardial involvement was observed in 2 (12.5%). CONCLUSIONS: It is important to recognize the main tomographic aspects of thoracic textilomas in order to include this possibility in the differential diagnosis of chest pain and cough in patients with a history of heart or thoracic surgery, thus promoting the early identification and treatment of this postoperative complication. PMID:25410842

  16. [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.

  17. 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

  18. [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.

  19. Cushing's Syndrome

    MedlinePlus

    ... become irregular or stop. Men may have decreased fertility with lowered interest in sex and may have ... but don’t develop the long-term health effects of Cushing's syndrome. These people may have pseudo- ...

  20. Behcet's Syndrome

    MedlinePlus

    Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The ... National Institute of Arthritis and Musculoskeletal and Skin Diseases

  1. Carcinoid syndrome

    MedlinePlus

    ... things such as blue cheese, chocolate, or red wine. Exams and Tests Most of these tumors are ... outlook is more favorable thanks to new treatment methods. Possible Complications Complications of carcinoid syndrome may include: ...

  2. Lynch Syndrome

    MedlinePlus

    ... child is a son or daughter. How gene mutations cause cancer The genes affected in Lynch syndrome ... children have a risk of inheriting your genetic mutations. If one parent carries a genetic mutation for ...

  3. Noonan syndrome

    MedlinePlus

    ... ray , or echocardiogram Hearing tests Growth hormone levels Genetic testing can help diagnose this syndrome. ... Problems with the structure of the heart Short height Social problems due to physical symptoms

  4. Metabolic Syndrome

    MedlinePlus

    ... cause of metabolic syndrome. The cause might be insulin resistance. Insulin is a hormone your body produces to help ... into energy for your body. If you are insulin resistant, too much sugar builds up in your ...

  5. Tourette Syndrome

    MedlinePlus

    ... like he's in pain or needs help. These tics are symptoms of Luke's Tourette syndrome. What Is ... the body's brain and nervous system by causing tics — sudden, repetitive movements or sounds that some people ...

  6. Hurler Syndrome

    MedlinePlus

    ... del paciente Transplant process Diseases treated by transplant Acute myeloid leukemia Adrenoleukodystrophy (ALD) Chronic Lymphocytic Leukemia (CLL) ... SCID) Sickle cell disease (SCD) Wiskott-Aldrich syndrome Acute lymphoblastic leukemia (ALL) Other diseases Treatment decisions Learn ...

  7. Tourette Syndrome

    MedlinePlus

    ... trials, epidemiology, neurophysiology, neuroimmunology, and descriptive/diagnostic clinical science. Findings from these studies will provide clues for more effective therapies. Information from the National Library of Medicine’s MedlinePlus Tourette Syndrome × What research is ...

  8. Apert syndrome

    MedlinePlus

    ... by ridging along sutures (craniosynostosis) Frequent ear infections Fusion or severe webbing of the 2nd, 3rd, and ... midface Skeletal (limb) abnormalities Short height Webbing or fusion of the toes Several other syndromes can lead ...

  9. [Refeeding syndrome].

    PubMed

    Ševela, Stanislav; Novák, František; Kazda, Antonín; Brodská, Helena

    Despite being known more than 60 years, refeeding syndrome (RS) still bears many uncertainties. For example, its definition is not clear and definite, and the attitude to it varies from the complete neglect to over-prevention.The term "refeeding syndrome" refers to electrolyte and metabolic changes occurring in malnourished patients after the readministration of nutrition. These changes concern especially to phosphates and ions. Potassium, magnesium, naturism and fluids balance are involved. The changes lead to cell energetic metabolism and electric potential disturbances, with related clinical symptoms.Fully developed refeeding syndrome is quite rare; nevertheless it can be fatal for the patient. However, even its development can lead to many complications increasing the patient's morbidity and the length of stay in the hospital. Yet the refeeding syndrome is more or less predictable and if kept in mind also preventable.The aim of this article is to get the reader to know more about this metabolic phenomenon and possible attitudes towards it.

  10. Stickler Syndrome

    MedlinePlus

    ... Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped ... develop ear infections than are children with normal facial features. Deafness. Hearing loss may worsen with time and ...

  11. Brown Syndrome

    MedlinePlus

    ... Does Brown syndrome cause eye problems besides abnormal eye movements? In the more severely affected cases of Brown ... acquired and congenital cases. In congenital cases, the eye movement problem is usually constant and unlikely to resolve ...

  12. Turner Syndrome

    MedlinePlus

    ... increased risk of developing weak, brittle bones (osteoporosis). Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, ...

  13. Aase syndrome

    MedlinePlus

    Aase-Smith syndrome; Hypoplastic anemia - triphalangeal thumbs, Aase-Smith type ... Jones KL, Jones MC, Del Campo M, eds. Smith's Recognizable Patterns of Human Malformation . 7th ed. Philadelphia, ...

  14. Alagille Syndrome

    MedlinePlus

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  15. Reye Syndrome

    MedlinePlus

    ... Liver Function Tests Clinical Trials Liver Transplant FAQs Medical Terminology Diseases of the Liver Alagille Syndrome Alcohol-Related ... the Liver The Progression of Liver Disease FAQs Medical Terminology HOW YOU CAN HELP Sponsorship Ways to Give ...

  16. Tourette syndrome

    MedlinePlus

    ... had many motor tics and 1 or more vocal tics, although these tics may not have occurred ... symptoms of Tourette syndrome. A type of talk therapy (coginitive behavioral therapy) called habit-reversal may help ...

  17. HELLP syndrome

    MedlinePlus

    ... It is considered to be a variant of preeclampsia. Sometimes the presence of HELLP syndrome is due ... out of 1,000 pregnancies. In women with preeclampsia or eclampsia , the condition develops in 10% to ...

  18. Waardenburg syndrome.

    PubMed

    Tagra, Sunita; Talwar, Amrita Kaur; Walia, Rattan Lal Singh; Sidhu, Puneet

    2006-01-01

    Waardenburg syndrome is a rare inherited and genetically heterogenous disorder of neural crest cell development. Four distinct subtypes showing marked interfamilial and intrafamilial variability have been described. We report a girl showing constellation of congenital hearing impairment with 110 dB and 105 dB loss in right and left ear respectively, hypoplastic blue iridis, white forelock, dystopia canthorum and broad nasal root. Other affected relatives of the family, with variable features of the syndrome, have been depicted in the pedigree.

  19. Noonan syndrome

    PubMed Central

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2014-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

  20. 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.

  1. [Poland's syndrome].

    PubMed

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  2. Learning about WAGR Syndrome

    MedlinePlus

    ... children who have WAGR syndrome may have normal intelligence. Other symptoms of WAGR syndrome may also include: ... mild. Some individuals with WAGR syndrome have normal intelligence. Children with WAGR syndrome should be referred for ...

  3. Exogenous Cushing syndrome

    MedlinePlus

    Cushing syndrome - corticosteroid induced; Corticosteroid-induced Cushing syndrome; Iatrogenic Cushing syndrome ... Cushing syndrome is a disorder that occurs when your body has a higher than normal level of the hormone ...

  4. Turner Syndrome: Other FAQs

    MedlinePlus

    ... Other FAQs Share Facebook Twitter Pinterest Email Print Turner Syndrome: Other FAQs Basic information for topics, such as " ... been diagnosed with Turner syndrome. Now what? Is Turner syndrome inherited? Turner syndrome is usually not inherited, but ...

  5. Obesity Hypoventilation Syndrome

    MedlinePlus

    ... Home / < Back To Health Topics / Obesity Hypoventilation Syndrome Obesity Hypoventilation Syndrome Also known as Pickwickian Syndrome What ... your neck is larger than normal. Complications of Obesity Hypoventilation Syndrome When left untreated, OHS can cause ...

  6. Loeys-Dietz Syndrome

    MedlinePlus

    ... to the signs and symptoms of Loeys-Dietz syndrome. Marfan syndrome is different from Loeys-Dietz syndrome in that the gene mutation which causes Marfan syndrome is in fibrillin-1 (FBN-1), a protein ...

  7. National Down Syndrome Society

    MedlinePlus

    ... individuals with Down syndrome. Help us fix the law and end #LawSyndrome. Law Syndrome affects 100% of people with Down syndrome. It’s a series of antiquated laws that impede the pursuit of a career or ...

  8. 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

  9. 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

  10. [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.

  11. CT Demonstration of Caput Medusae

    ERIC Educational Resources Information Center

    Weber, Edward C.; Vilensky, Joel A.

    2009-01-01

    Maximum intensity and volume rendered CT displays of caput medusae are provided to demonstrate both the anatomy and physiology of this portosystemic shunt associated with portal hypertension. (Contains 2 figures.)

  12. Greening America's Capitals - Hartford, CT

    EPA Pesticide Factsheets

    This Greening America's Capitals report gives Hartford, CT, a new vision for Capitol Avenue that highlights existing assets and fills in gaps along the mile-long area of focus and into the surrounding neighborhoods.

  13. Nevoid basal cell carcinoma syndrome

    MedlinePlus

    NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma syndrome ... Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH (" ...

  14. What Is Antiphospholipid Antibody Syndrome?

    MedlinePlus

    ... or rheumatic (ru-MAT-ik) disorders, such as lupus . ("Rheumatic" refers to disorders that affect the joints, ... aCL syndrome Antiphospholipid syndrome aPL syndrome Hughes syndrome Lupus anticoagulant syndrome Causes Antiphospholipid antibody syndrome (APS) occurs ...

  15. 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.

  16. Kindler syndrome.

    PubMed

    Sharma, Ramesh Chander; Mahajan, Vikram; Sharma, Nand Lal; Sharma, Ashok K

    2003-09-01

    Kindler syndrome is a rare genodermatosis characterized by acral bullae and photosensitivity. The photosensitivity improves with advancing age and results in progressive poikiloderma and cutaneous atrophy, and many additional features have also been described. This report describes two male Kindler syndrome patients with classical features of acral blistering and photosensitivity in childhood, and subsequent development of poikiloderma, leukokeratosis of oro-ano-genital mucosae, phimosis and meatal stenosis. The first patient had additional ophthalmic features of chronic simple conjunctivitis caused by persistent irritation, multiple stromal nebular corneal opacities and thickened corneal nerves. The second patient showed skeletal changes, namely a dome-shaped skull (turri-cephaly), bifid fourth rib, missing fifth rib, short fourth and fifth metacarpals and mandibular abnormalities. This is the first report of such ophthalmic and skeletal features of Kindler syndrome.

  17. Noonan syndrome.

    PubMed

    Bhambhani, Vikas; Muenke, Maximilian

    2014-01-01

    Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome-specific growth charts and treatment guidelines are available.

  18. Compartment syndromes

    NASA Technical Reports Server (NTRS)

    Mubarak, S. J.; Pedowitz, R. A.; Hargens, A. R.

    1989-01-01

    The compartment syndrome is defined as a condition in which high pressure within a closed fascial space (muscle compartment) reduces capillary blood perfusion below the level necessary for tissue viability'. This condition occurs in acute and chronic (exertional) forms, and may be secondary to a variety of causes. The end-result of an extended period of elevated intramuscular pressure may be the development of irreversible tissue injury and Volkmann's contracture. The goal of treatment of the compartment syndrome is the reduction of intracompartmental pressure thus facilitating reperfusion of ischaemic tissue and this goal may be achieved by decompressive fasciotomy. Controversy exists regarding the critical pressure-time thresholds for surgical decompression and the optimal diagnostic methods of measuring intracompartmental pressures. This paper will update and review some current knowledge regarding the pathophysiology, aetiology, diagnosis, and treatment of the acute compartment syndrome.

  19. Refeeding syndrome

    PubMed Central

    Tripathy, Swagata; Mishra, Padmini; Dash, S. C.

    2008-01-01

    We report a case of a fifty-year-old male who was admitted with a three month history of increasing weakness, prostration, decreasing appetite and inability to swallow. The patient was a chronic alcoholic, unemployed, and of very poor socioeconomic background. The patient was initially investigated for upper GI malignancy, Addisons disease, bulbar palsy and other endocrinopathies. Concurrent management was started for severe electrolyte abnormalities and enteral nutritional supplementation was begun. By the fourth day of feeding patient developed severe hypophosphatemia and other life-threatening features suggesting refeeding syndrome. The patient was managed for the manifestations of refeeding syndrome. A final diagnosis of chronic alcoholic malnutrition with refeeding syndrome was made. Refeeding of previously starving patients may lead to a variety of complications including sudden death. PMID:19742256

  20. Postpolio syndrome.

    PubMed

    Winters, R

    1991-01-01

    The recurrence of symptoms many years after the rehabilitation of individuals who survived the acute illness, poliomyelitis, is a major concern. The purpose of this article is to provide information to the nurse practitioner (NP), who, as a primary health care provider, may be the first health professional to encounter persons with such complaints. Although no cure has been identified, diagnosis and treatment is available and is important to the psychosocial well-being of those who suffer from postpolio syndrome. This article reviews research on the syndrome including etiology, pathophysiology, symptoms and management, psychological issues, and the role of the aging process. Some areas where further research is indicated are also identified.

  1. Rett syndrome

    PubMed Central

    Sitholey, Prabhat; Agarwal, Vivek; Srivastava, Rohit

    2005-01-01

    Rett syndrome is a rare, progressive, neurodevelopmental disorder that has been reported only in the girl child. We describe the case of a 6.9-year-old girl with Rett syndrome. She had normal development till the age of 2 years. However, over the next 4–5 months, she lost her acquired, purposeful hand skills; expressive and receptive language; and reciprocal social interaction; and gradually developed a broad-based gait and typical midline stereotyped hand movements (mouthing, rubbing). PMID:20711295

  2. [Elsberg syndrome].

    PubMed

    Nielsen, Kristine Esbjerg; Knudsen, Troels Bygum

    2013-12-16

    A syndrome involving acute urinary retention in combination with sacral radiculitis and cerebrospinal fluid pleocytosis was first described by the American neurosurgeon Charles Elsberg in 1931. In many instances the aetiology is herpes simplex virus type 2 (HSV-2) reactivation from sensory neurons. In this case report we present a 34-year-old pregnant woman with previous undiagnosed sensory lumbosacral symptoms. She was hospitalized with HSV-2 meningitis and lumbosacral radiculitis but no genital rash. A week after the onset of symptoms she developed acute urinary retention, thus indicating Elsberg syndrome.

  3. Reiter's Syndrome.

    PubMed

    Savant, S S; Fernandez, J C; Dhurandhar, M W; Fernandez, R J

    1979-01-01

    A case of Reiter's syndrome occurring in a young mate aged 20 years having extensive skin lesions of keratoderina blenoffhagica is presented along with a review of literature. Although urethritis was absent, other clinical and histopathological features of the cutaneous lesions led us to the diagnosis. The-possible relationship of postural psoriasis to Reiter's syndrome is discussed. Failure of the patient to respond satisfactorily to steroids, antibiotics etc, prompted the use of rnethotrexate in the case. The result was dramatic, as the patient completely recovered within ten days of starting treatment.

  4. 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.

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

    SciTech Connect

    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.

  6. 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.

  7. 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

  8. 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.

  9. [Waardenburg's syndrome].

    PubMed

    Gimñenez, F; Carbonell, R; Pérez, F; Lozano, I

    1994-01-01

    Reporting one case of this condition type-2 with heterochromia iridis and cochlear deafness. The AA. review the syndrome's components and it nomenclature as well. They discuss about the convenience of including this deviation in the chapter of "diseases of the embryonic neural crest". The specific place of the gene responsibly in the chromosome-2 and the possibilities of genetic counselling are considered.

  10. Kindler syndrome.

    PubMed

    Ashton, G H S

    2004-03-01

    Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction. The molecular pathology underlying Kindler syndrome has recently been shown to involve loss-of-function mutations in a novel gene, KIND1, encoding kindlin-1. Immunofluorescence, gene expression and cell biology studies have shown that kindlin-1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix. Thus, Kindler syndrome is the first genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa. This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein, kindlin-1, in cell-matrix adhesion and its intriguing link to photosensitivity.

  11. Rett Syndrome.

    ERIC Educational Resources Information Center

    Culbert, Linda A.

    This pamphlet reviews the historical process involved in initially recognizing Rett Syndrome as a specific disorder in girls. Its etiology is unknown, but studies have considered factors as hyperammonemia, a two-step mutation, a fragile X chromosome, metabolic disorder, environmental causation, dopamine deficiency, and an inactive X chromosome.…

  12. Pendred Syndrome

    MedlinePlus

    ... weigh the medical, emotional, and ethical considerations of testing. A genetic counselor is a health professional who provides information and support to people (and their families) who have a genetic disorder or who are at risk for a genetic disorder. How is Pendred syndrome ...

  13. Rett Syndrome

    MedlinePlus

    ... with movement and coordination, and a loss of social interaction and communication. Stage III: plateau. The third stage usually begins between the ages of 2 and 10 years and can last for many years. ... social functioning Shortened life span — people with Rett syndrome ...

  14. Turner Syndrome

    MedlinePlus

    ... skin. What health problems can occur with Turner syndrome? Girls and women with TS are at risk for congenital (present at birth) abnormalities of the heart and kidneys, high blood pressure, chronic or repeated middle ear infections, hearing loss, diabetes, underactive thyroid gland, bowel ...

  15. 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.

  16. 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.

  17. ‘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

  18. Sotos syndrome

    PubMed Central

    Baujat, Geneviève; Cormier-Daire, Valérie

    2007-01-01

    Sotos syndrome is an overgrowth condition characterized by cardinal features including excessive growth during childhood, macrocephaly, distinctive facial gestalt and various degrees of learning difficulty, and associated with variable minor features. The exact prevalence remains unknown but hundreds of cases have been reported. The diagnosis is usually suspected after birth because of excessive height and occipitofrontal circumference (OFC), advanced bone age, neonatal complications including hypotonia and feeding difficulties, and facial gestalt. Other inconstant clinical abnormalities include scoliosis, cardiac and genitourinary anomalies, seizures and brisk deep tendon reflexes. Variable delays in cognitive and motor development are also observed. The syndrome may also be associated with an increased risk of tumors. Mutations and deletions of the NSD1 gene (located at chromosome 5q35 and coding for a histone methyltransferase implicated in transcriptional regulation) are responsible for more than 75% of cases. FISH analysis, MLPA or multiplex quantitative PCR allow the detection of total/partial NSD1 deletions, and direct sequencing allows detection of NSD1 mutations. The large majority of NSD1 abnormalities occur de novo and there are very few familial cases. Although most cases are sporadic, several reports of autosomal dominant inheritance have been described. Germline mosaicism has never been reported and the recurrence risk for normal parents is very low (<1%). The main differential diagnoses are Weaver syndrome, Beckwith-Wiedeman syndrome, Fragile X syndrome, Simpson-Golabi-Behmel syndrome and 22qter deletion syndrome. Management is multidisciplinary. During the neonatal period, therapies are mostly symptomatic, including phototherapy in case of jaundice, treatment of the feeding difficulties and gastroesophageal reflux, and detection and treatment of hypoglycemia. General pediatric follow-up is important during the first years of life to allow detection

  19. Pendred syndrome.

    PubMed

    Wémeau, Jean-Louis; Kopp, Peter

    2017-03-01

    Pendred syndrome is an autosomal recessive disorder that is classically defined by the combination of sensorineural deafness/hearing impairment, goiter, and an abnormal organification of iodide with or without hypothyroidism. The hallmark of the syndrome is the impaired hearing, which is associated with inner ear malformations such as an enlarged vestibular aqueduct (EVA). The thyroid phenotype is variable and may be modified by the nutritional iodine intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4/PDS gene, which encodes the multifunctional anion exchanger pendrin. Pendrin has affinity for chloride, iodide, and bicarbonate, among other anions. In the inner ear, pendrin functions as a chloride/bicarbonate exchanger that is essential for maintaining the composition and the potential of the endolymph. In the thyroid, pendrin is expressed at the apical membrane of thyroid cells facing the follicular lumen. Functional studies have demonstrated that pendrin can mediate iodide efflux in heterologous cells. This, together with the thyroid phenotype observed in humans (goiter, impaired iodine organification) suggests that pendrin could be involved in iodide efflux into the lumen, one of the steps required for thyroid hormone synthesis. Iodide efflux can, however, also occur in the absence of pendrin suggesting that other exchangers or channels are involved. It has been suggested that Anoctamin 1 (ANO1/TMEM16A), a calcium-activated anion channel, which is also expressed at the apical membrane of thyrocytes, could participate in mediating apical efflux. In the kidney, pendrin is involved in bicarbonate secretion and chloride reabsorption. While there is no renal phenotype under basal conditions, severe metabolic alkalosis has been reported in Pendred syndrome patients exposed to an increased alkali load. This review provides an overview on the clinical spectrum of Pendred syndrome, the functional data on pendrin with a focus on its potential role in

  20. CT dose reduction in children.

    PubMed

    Vock, Peter

    2005-11-01

    World wide, the number of CT studies in children and the radiation exposure by CT increases. The same energy dose has a greater biological impact in children than in adults, and scan parameters have to be adapted to the smaller diameter of the juvenile body. Based on seven rules, a practical approach to paediatric CT is shown: Justification and patient preparation are important steps before scanning, and they differ from the preparation of adult patients. The subsequent choice of scan parameters aims at obtaining the minimal signal-to-noise ratio and volume coverage needed in a specific medical situation; exposure can be divided in two aspects: the CT dose index determining energy deposition per rotation and the dose-length product (DLP) determining the volume dose. DLP closely parallels the effective dose, the best parameter of the biological impact. Modern scanners offer dose modulation to locally minimise exposure while maintaining image quality. Beyond the selection of the physical parameters, the dose can be kept low by scanning the minimal length of the body and by avoiding any non-qualified repeated scanning of parts of the body. Following these rules, paediatric CT examinations of good quality can be obtained at a reasonable cost of radiation exposure.

  1. Malignant external otitis: CT evaluation

    SciTech Connect

    Curtin, H.D.; Wolfe, P.; May, M.

    1982-11-01

    Malignant external otitis is an aggressive infection caused by Pseudomonas aeruginosa that most often occurs in elderly diabetics. Malignant external otitis often spreads inferiorly from the external canal to involve the subtemporal area and progresses medially towards the petrous apex leading to multiple cranial nerve palsies. The computed tomographic (CT) findings in malignant external otitis include obliteration of the normal fat planes in the subtemporal area as well as patchy destruction of the bony cortex of the mastoid. The point of exit of the various cranial nerves can be identified on CT scans, and the extent of the inflammatory massmore » correlates well with the clinical findings. Four cases of malignant external otitis are presented. In each case CT provided a good demonstration of involvement of the soft tissues at the base of the skull.« less

  2. The Source for Syndromes.

    ERIC Educational Resources Information Center

    Richard, Gail J.; Hoge, Debra Reichert

    Designed for practicing speech-language pathologists, this book discusses different syndrome disabilities, pertinent speech-language characteristics, and goals and strategies to begin intervention efforts at a preschool level. Chapters address: (1) Angelman syndrome; (2) Asperger syndrome; (3) Down syndrome; (4) fetal alcohol syndrome; (5) fetal…

  3. Irritable Bowel Syndrome

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Irritable Bowel Syndrome KidsHealth / For Teens / Irritable Bowel Syndrome What's in ... intestinal disorder called irritable bowel syndrome. What Is Irritable Bowel Syndrome? Irritable bowel syndrome (IBS) is a common intestinal ...

  4. 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.

  5. Ontological analysis of SNOMED CT.

    PubMed

    Héja, Gergely; Surján, György; Varga, Péter

    2008-10-27

    SNOMED CT is the most comprehensive medical terminology. However, its use for intelligent services based on formal reasoning is questionable. The analysis of the structure of SNOMED CT is based on the formal top-level ontology DOLCE. The analysis revealed several ontological and knowledge-engineering errors, the most important are errors in the hierarchy (mostly from an ontological point of view, but also regarding medical aspects) and the mixing of subsumption relations with other types (mostly 'part of'). The found errors impede formal reasoning. The paper presents a possible way to correct these problems.

  6. Overtraining Syndrome

    PubMed Central

    Kreher, Jeffrey B.; Schwartz, Jennifer B.

    2012-01-01

    Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes. Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation. Bibliographies were reviewed for additional resources. Results: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. Conclusions: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science’s position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS. PMID:23016079

  7. Pearson syndrome.

    PubMed

    Farruggia, Piero; Di Marco, Floriana; Dufour, Carlo

    2018-03-01

    Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Expert commentary: PS is a very rare mitochodrial disease that involves different organs and systems. Clinical phenotype is extremely variable and may change over the course of disease itself with the possibility both of worsenings and improvements. Outcome is invariably lethal and at the moment no cure is available. Accurate supportive treatment and follow up program in centres with experience in mitochondrial diseases and marrow failure may positively influence quality and duration of life.

  8. Paraneoplastic syndromes

    SciTech Connect

    Weller, R.E.

    1994-03-01

    Paraneoplastic syndromes (PNS) comprise a diverse group of disorders that are associated with cancer but unrelated to the size, location, metastases, or physiologic activities of the mature tissue of origin. They are remote effects of tumors that may appear as signs, symptoms, or syndromes which can mimic other disease conditions encountered in veterinary medicine. Recognition of PNS is valuable for several reasons: the observed abnormalities may represent tumor cell markers and facilitate early diagnosis of the tumor; they may allow assessment of premalignant states; they may aid in the search metastases; they may help quantify and monitor response to therapy;more » and, they may provide insight into the study of malignant transformation and oncogene expression. This review will concentrate on the pathophysiology, diagnosis, and treatment of some of the common PNS encountered in veterinary medicine.« less

  9. Fluency Disorders in Genetic Syndromes

    ERIC Educational Resources Information Center

    Van Borsel, John; Tetnowski, John A.

    2007-01-01

    The characteristics of various genetic syndromes have included "stuttering" as a primary symptom associated with that syndrome. Specifically, Down syndrome, fragile X syndrome, Prader-Willi syndrome, Tourette syndrome, Neurofibromatosis type I, and Turner syndrome all list "stuttering" as a characteristic of that syndrome. An extensive review of…

  10. [Usher syndrome].

    PubMed

    Preda, Mirela; Damian, Carmen; Irimia, Anca; Sollosy, Mihaela; Ciuca, Cristi Adelina; Totolin, Mariana

    2008-01-01

    We present the case report of two brothers, PF-21 years old and PN-19 years old, to whom the fundus examination, perimetry and dark adaptation established the diagnosis of Retinitis Pigmentosa. The otorhinolaryngology exam and the audiogram revealed, in both cases, bilateral sensorineural deafness. The simultaneous presence of these two conditions completes the clinical findings of Usher syndrome. The common ectodermic origin of the retina and the inner ear could explain this pathological association.

  11. [Crush syndrome].

    PubMed

    Scapellato, S; Maria, S; Castorina, G; Sciuto, G

    2007-08-01

    Crush injuries and crush syndrome are common after natural (e.g. earthquake, land-slide, tornadoes, tsunami) or man-made catastrophes (e.g. wars, terrorist attacks), in fact the history of this disease is well reported both in earthquake rescue reviews and in military literature. However, there are instances due to conventional causes, such as building collapses, road traffic accident, accident at work or altered level of consciousness after stroke or drug overdose. These situations of ''big or small'' catastrophes can occur at any time and anywhere, for this reason every clinician should be prepared to address issues of crush syndrome quickly and aggressively. The treatment has to manage and to predict clinical conditions before they present themselves. In particular, acute renal failure is one of the few life-threatening complications that can be reversed. This article reviews the various evidences and summarizes the treatment strategies available. Fundamental targets in crush syndrome management are early aggressive hydration, urine alkalinization and, when possible, forced diuresis. Since electrolyte imbalance may be fatal due to arrhythmias secondary to hyperkalemia (especially associated with hypocalcemia), it's necessary to correct these abnormalities using insulin-glucose solution and/or potassium binders, and if nevertheless serum potassium levels remain high this serious disease will necessitate dialysis, which is often a vital procedure.

  12. Gorlin Syndrome.

    PubMed

    Palacios-Álvarez, I; González-Sarmiento, R; Fernández-López, E

    2018-04-01

    Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up. Skin treatment may be complicated due to the large number of basal cell carcinomas and the extent of involvement. In recent years, new drugs that inhibit targets in the sonic hedgehog pathway have been developed. Although these agents appear promising options for patients with Gorlin syndrome, their efficacy is limited by adverse effects and the development of resistance. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. [PHACES syndrome].

    PubMed

    Morcillo Azcárate, J; Bernabeu-Wittel, J; Fernández-Pineda, I; Conejo-Mir, M D; Tuduri Limousin, I; Aspiazu Salinas, D A; de Agustín Asensio, J C

    2010-04-01

    PHACES syndrome associates a segmental facial hemangioma with cerebral malformations, aortic branches/cranial arteries anomalies, cardiac defects, eye anomalies or ventral wall defects. The aim of this study is to analyze our experience with this syndrome. Retrospective study of the cases seen at our unit in the last year. We treat 4 cases; 3 girls and 1 child. Besides the segmental hemangioma they presented: 3 vascular cerebral malformations; 2 structural cardiopathies; 2 cerebral malformations, 1 microftalmia. We did not find ventral wall defects. A case received treatment with two cycles of metilprednisolone i.v. and oral prednisone, with favourable course; two cases received initial treatment with oral prednisone continued of oral propanolol in rising pattern up to 2 mg/kg/day, Obtaining both the detention of the tumour growth and regression of the lesion, with very good tolerance. A 7-year-old patient has been treated with colouring pulse laser for her residual lesions. When we see a segmental facial hemangioma we must perform a wide diagnostic study in order to discard a PHACES syndrome. Multidisciplinar approach to the patient by a wide expert's group gets an earlier diagnose and improves the outcome. Propranolol is a promising therapeutic alternative.

  14. Anserine syndrome.

    PubMed

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  15. Learning about Down Syndrome

    MedlinePlus

    ... for the mothers of infants with Down syndrome. Intelligence in individuals with Down syndrome ranges from low ... is not possible to tell the level of intelligence a baby with Down syndrome will have. All ...

  16. Toxic shock syndrome

    MedlinePlus

    Staphylococcal toxic shock syndrome; Toxic shock-like syndrome; TSLS ... Toxic shock syndrome is caused by a toxin produced by some types of staphylococcus bacteria. A similar problem, called toxic shock- ...

  17. Reye syndrome - resources

    MedlinePlus

    Resources - Reye syndrome ... The following organizations are good resources for information on Reye Syndrome : National Reye's Syndrome Foundation, Inc. -- www.reyessyndrome.org National Institute of Neurologic Disorders and Stroke -- www. ...

  18. Facts about Down Syndrome

    MedlinePlus

    ... Down syndrome is a condition in which a person has an extra chromosome. What is Down Syndrome? Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” ...

  19. What Is Usher Syndrome?

    MedlinePlus

    ... and usually appears during adolescence or early adulthood. Balance may also be affected in people with Usher syndrome. Symptoms and disease progression vary from person to person. There are three general categories of Usher syndrome. People with Usher syndrome ...

  20. Neonatal respiratory distress syndrome

    MedlinePlus

    Hyaline membrane disease (HMD); Infant respiratory distress syndrome; Respiratory distress syndrome in infants; RDS - infants ... improves slowly after that. Some infants with severe respiratory distress syndrome will die. This most often occurs ...

  1. Toxic Shock Syndrome

    MedlinePlus

    ... toxic shock syndrome results from toxins produced by Staphylococcus aureus (staph) bacteria, but the condition may also be ... a skin or wound infection. Causes Most commonly, Staphylococcus aureus (staph) bacteria cause toxic shock syndrome. The syndrome ...

  2. Genetics Home Reference: Alagille syndrome

    MedlinePlus

    ... my area? Other Names for This Condition Alagille-Watson Syndrome Alagille's syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome ... hypoplasia hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts Watson-Miller syndrome Related Information How are genetic conditions ...

  3. CT manifestations of peritoneal carcinomatosis.

    PubMed

    Walkey, M M; Friedman, A C; Sohotra, P; Radecki, P D

    1988-05-01

    Seventy-three abdominopelvic contrast-enhanced CT scans obtained in 60 patients with peritoneal tumor spread were reviewed retrospectively to determine the CT signs of peritoneal malignancy. Ascites was present in 54 studies (74%) and was the most common CT finding. Loculation of the fluid occurred in 25 (46%) of these. In nine (17%) of the 54, a new finding, absence of cul-de-sac fluid in the presence of generalized ascites, was noted. Parietal peritoneal thickening with contrast enhancement of the peritoneum, making the peritoneum visible as a thin line along the abdominal wall, was present in 45 (62%) of studies. This is believed to represent confluent peritoneal metastases. Small-bowel involvement was present in half of the cases (wall thickening and irregularity with or without obstruction). Tumor involvement of the omentum was visible as soft-tissue permeation of fat, enhancing nodules, and/or an omental cake. Of the 26 patients without a previously known malignancy, identification of the primary tumor in addition to peritoneal carcinomatosis was possible in 13 (50%). Appreciation of the spectrum of CT findings in peritoneal carcinomatosis is essential for accurate evaluation of scans in patients with abdominopelvic malignancies.

  4. 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.

  5. Acute nephritic syndrome

    MedlinePlus

    ... Names Glomerulonephritis - acute; Acute glomerulonephritis; Nephritis syndrome - acute Images Kidney anatomy References Appel GB, Radhakrishnan J. Glomerular disorders and nephrotic syndromes. In: Goldman L, ...

  6. CT in your clinical practice.

    PubMed

    Kohs, Gregory J; Legunn, Joel

    2004-09-01

    This report presents the results of a survey of 500 U.S.-based radiologists on critical issues associated with the use of CT. The survey represents a collaboration between the American Roentgen Ray Society (ARRS) and Philips Medical Systems. An outside firm, ICR/International Communications Research, conducted the survey. Survey questions were designed to elicit opinions about the past, present and future of CT, especially MDCT imaging, in various practice environments. Most radiologists (69%) indicated that CT has had a major influence on their specialty, more than any other medical advance, and that they expected this influence to increase. The idea that MDCT radically improves diagnostic quality was not universal, and opinions were mixed about the expansion of CT into new applications such as cardiac imaging. A number of concerns were attributed to the advent of MDCT and expansion in the number of slices-a phenomenon commonly referred to as a "slice war." These concerns revolved around managing the data explosion, excessive patient irradiation, bottlenecks in patient throughput, the ability of CT staffs to keep up with the rapidly evolving technology and the costs of keeping up with these changes. Nevertheless, most radiologists (78%) who were surveyed indicated that they used MDCT and that MDCT has had a positive effect on their practices in the past five years (90%); most (77%) expected that the number of slices would increase by two to 10 times the current level. Fifty-six percent said that they would be adding one to two scanners to their practices in the next five years.

  7. 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.

  8. 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.

  9. 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

  10. 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

  11. Morvan Syndrome

    PubMed Central

    Maskery, Mark; Chhetri, Suresh K.; Dayanandan, Rejith; Gall, Claire

    2016-01-01

    A 74-year-old gentleman was admitted to the regional neurosciences center with encephalopathy, myokymia, and dysautonomia. Chest imaging had previously identified an incidental mass in the anterior mediastinum, consistent with a primary thymic tumor. Antivoltage-gated potassium channel (anti-VGKC) antibodies were positive (titer 1273 pmol/L) and he was hypokalemic. Electromyogram and nerve conduction studies were in keeping with peripheral nerve hyperexcitability syndrome, and an electroencephalogram was consistent with encephalopathy. A diagnosis of Morvan syndrome was made, for which he was initially treated with high-dose steroids, followed by a 5-day course of intravenous immunoglobulin (IVIG) therapy. He also underwent thymectomy, followed by a postexcision flare of his symptoms requiring intensive care management. Further steroids, plasmapheresis, and IVIG achieved stabilization of his clinical condition, enabling transfer for inpatient neurorehabilitation. He was commenced on azathioprine and a prolonged oral steroid taper. A subsequent presumed incipient relapse responded well to further IVIG treatment. This case report documents a thymoma-associated presentation of anti-VGKC-positive Morvan syndrome supplemented by patient and carer narrative and video, both of which provide valuable further insights into this rare disorder. There are a limited number of publications surrounding this rare condition available in the English literature. This, combined with the heterogenous presentation, association with underlying malignancy, response to treatment, and prognosis, provides a diagnostic challenge. However, the association with anti-VGKC antibody-associated complexes and 2 recent case series have provided some scope for both accurate diagnosis and management. PMID:26740856

  12. Refeeding syndrome.

    PubMed

    Fuentebella, Judy; Kerner, John A

    2009-10-01

    Refeeding syndrome (RFS) is the result of aggressive enteral or parenteral feeding in a malnourished patient, with hypophosphatemia being the hallmark of this phenomenon. Other metabolic abnormalities, such as hypokalemia and hypomagnesemia, may also occur, along with sodium and fluid retention. The metabolic changes that occur in RFS can be severe enough to cause cardiorespiratory failure and death. This article reviews the pathophysiology, the clinical manifestations, and the management of RFS. The key to prevention is identifying patients at risk and being aware of the potential complications involved in rapidly reintroducing feeds to a malnourished patient.

  13. Tourette Syndrome

    PubMed Central

    Murray, T. J.

    1982-01-01

    Tourette syndrome (Gilles de la Tourette disease) is a disorder of involuntary muscular tics, vocalizations and compulsive behavior. The tics and muscle movements vary in form and course; the complex repetitive patterns are eventually replaced by other patterns. The vocalization may be in the form of sounds, words or profanities and sometimes echolalia, echopraxia and palilalia. The onset may be from age two to 15 but is usually between ages eight and 12. Recent studies suggest that there is a hypersensitivity of dopamine receptors. Most patients respond well to haloperidol, but other drugs that may be of value include clonidine, pimozide, fluphenazine and trifluoroperazine. PMID:21286050

  14. 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.

  15. 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.

  16. 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.

  17. Elsberg syndrome

    PubMed Central

    Savoldi, Filippo; Kaufmann, Timothy J.; Flanagan, Eoin P.; Toledano, Michel

    2017-01-01

    Objective: Elsberg syndrome (ES) is an established but often unrecognized cause of acute lumbosacral radiculitis with myelitis related to recent herpes virus infection. We defined ES, determined its frequency in patients with cauda equina syndrome (CES) with myelitis, and evaluated its clinical, radiologic, and microbiologic features and outcomes. Methods: We searched the Mayo Clinic medical records for ES and subsequently for combinations of index terms to identify patients with suspected CES and myelitis. Results: Our search yielded 30 patients, 2 diagnosed with ES and an additional 28 with clinical or radiologic evidence of CES retrospectively suspected of having ES. We classified patients in 5 groups according to diagnostic certainty. MRI and EMG confirmed that 2 had only myelitis, 5 only radiculitis, and 16 both. Two had preceding sacral herpes infection and 1 oral herpes simplex. Spinal cord lesions were commonly multiple, discontinuous, not expansile, and centrally or ventrally positioned. Lesions generally spared the distal conus. Nerve root enhancement was occasionally prominent and was smooth rather than nodular. Lymphocytic CSF pleocytosis was common. Thirteen patients (43%) had viral isolation studies, which were commonly delayed; the delay may have accounted for the low rate of viral detection. Acyclovir was administered to 6 patients. Most patients recovered with sequelae; 1 patient experienced encephalomyelitis and died. Conclusion: ES is a definable condition likely responsible for 10% of patients with combined CES and myelitis. Radiologic findings are not entirely specific but may help in differentiating ES from some competing diagnostic considerations. We propose criteria to facilitate diagnosis. PMID:28534040

  18. Metabolic Syndrome.

    PubMed

    Sherling, Dawn Harris; Perumareddi, Parvathi; Hennekens, Charles H

    2017-07-01

    The United States is experiencing its greatest life expectancy ever. Nonetheless, the general health of the US population is far from at an all-time high. An important contributor to the pandemic of cardiovascular disease is that overweight and obesity are also the major determinants of metabolic syndrome, an all too common and all too serious clinical and public health challenge. Clinicians have traditionally evaluated each of the major risk factors contributing to metabolic syndrome on an individual basis. There is evidence, however, that the risk factors are more than additive. The overlap of these factors in each disease state, resulting in increased atherogenic risks, is worth examining as a broader entity rather than separately. While therapeutic lifestyle changes (TLCs) should be strongly recommended, clinicians should not let the perfect be the enemy of the possible. Evidence-based doses of statins, aspirin and angiotensin-converting enzyme inhibitors, or angiotensin II receptor blockers should be prescribed as adjuncts, not alternatives, to TLCs. In fact, there is cogent evidence that the benefits of these pharmacologic therapies may also be at least additive.

  19. [Schnitzler's syndrome].

    PubMed

    Henry, B; Néel, A; Barbarot, S; Masseau, A; Hamidou, M

    2013-04-01

    Schnitzler syndrome (SS) is a rare clinical entity, which belongs to the spectrum of monoclonal gammapathy-associated systemic disorders. Its pathophysiology remains elusive, even if it is tempting to consider it as a late onset and probably acquired auto-inflammatory syndrome. SS mainly occurs in the fifth and sixth decade, and present with an urticariform rash with periodic fever and/or osteoarticular pain. Systemic inflammation and monoclonal gammapathy (overwhelmingly IgM kappa) are constant features. SS is a chronic disease, which can severely impair quality of life of the affected individuals. Many drugs have been used and proved disappointing. In the last few years, accumulating reports provided evidence for the dramatic efficacy of anakinra, which has revolutionized the management of most severe cases. The main long-term threat to these patients is to develop a lymphoproliferative disorder (mainly Waldenström's macroglobulinemia). The mechanisms underlying the different facets of the disease remain to be elucidated. Copyright © 2013. Published by Elsevier SAS.

  20. Cotard Syndrome.

    PubMed

    Dieguez, Sebastian

    2018-01-01

    Cotard's syndrome is often described as the delusional belief that one is dead or non-existent. However, Jules Cotard's initial description (1880) of the "delusion of negations" was much richer and also involved delusions and claims of immortality and enormity, feelings of damnation, and illusions of bodily dissolution and transformation. Alternatively conceived as an extreme case of depression, hypochondria, or psychosis, the condition is considered rare and remains poorly understood. Cotard himself provided a taxonomy and several explanations for the condition, focusing on its distinction from classical persecutory delusions and suggesting that it could be a kind of reversed grandiosity. He proposed a psychosensory basis in the dissolution of mental imagery, which he then extended to a more general psychomotor impairment of volition. Other early authors highlighted a disorder of the bodily self, and more recent theories postulated an impairment of right hemispheric functions, leading to perceptual and somatosensory feelings of unreality, which coupled with reasoning impairments and an internalized attributional style led in turn to beliefs of non-existence. However, despite its striking presentation and its relevance to our understanding of self-awareness, Cotard's syndrome remains an elusive condition, rarely reported and poorly researched. © 2018 S. Karger AG, Basel.

  1. Cervical tuberculous adenitis: CT manifestations

    SciTech Connect

    Reede, D.L.; Bergeron, R.T.

    1985-03-01

    Cervical tuberculous adenitis is being seen with increasing frequency in the United States; in the appropriate clinical setting it should be included in the differential diagnosis of an asymptomatic neck mass. Patients are typically young adults who are recent arrivals from Southeast Asia. A history of tuberculosis is not always elicited nor is the chest radiograph always abnormal. All of these patients have positive purified protein derivative tests unless they are anergic. The CT findings may lead to the diagnosis. Several CT patterns of nodal disease can be seen in tuberculous adenitis; some may mimic benign and neoplastic disease. Themore » presence of a multiloculated or multichambered (conglomerate nodal) mass with central lucency and thick rims of enhancement and minimally effaced fascial planes is highly suggestive of tuberculous adenitis, especially if the patient has a strongly positive tuberculosis skin test.« less

  2. Cervical tuberculous adenitis: CT manifestations.

    PubMed

    Reede, D L; Bergeron, R T

    1985-03-01

    Cervical tuberculous adenitis is being seen with increasing frequency in the United States; in the appropriate clinical setting it should be included in the differential diagnosis of an asymptomatic neck mass. Patients are typically young adults who are recent arrivals from Southeast Asia. A history of tuberculosis is not always elicited nor is the chest radiograph always abnormal. All of these patients have positive purified protein derivative tests unless they are anergic. The CT findings may lead to the diagnosis. Several CT patterns of nodal disease can be seen in tuberculous adenitis; some may mimic benign and neoplastic disease. The presence of a multiloculated or multichambered (conglomerate nodal) mass with central lucency and thick rims of enhancement and minimally effaced fascial planes is highly suggestive of tuberculous adenitis, especially if the patient has a strongly positive tuberculosis skin test.

  3. Solid state VRX CT detector

    NASA Astrophysics Data System (ADS)

    DiBianca, Frank A.; Melnyk, Roman; Sambari, Aniket; Jordan, Lawrence M.; Laughter, Joseph S.; Zou, Ping

    2000-04-01

    A technique called Variable-Resolution X-ray (VRX) detection that greatly increases the spatial resolution in computed tomography (CT) and digital radiography (DR) is presented. The technique is based on a principle called 'projective compression' that allows the resolution element of a CT detector to scale with the subject or field size. For very large (40 - 50 cm) field sizes, resolution exceeding 2 cy/mm is possible and for very small fields, microscopy is attainable with resolution exceeding 100 cy/mm. Preliminary results from a 576-channel solid-state detector are presented. The detector has a dual-arm geometry and is comprised of CdWO4 scintillator crystals arranged in 24 modules of 24 channels/module. The scintillators are 0.85 mm wide and placed on 1 mm centers. Measurements of signal level, MTF and SNR, all versus detector angle, are presented.

  4. 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.

  5. Turner Syndrome (For Teens)

    MedlinePlus

    ... Staying Safe Videos for Educators Search English Español Turner Syndrome KidsHealth / For Teens / Turner Syndrome What's in this ... en español El síndrome de Turner What Is Turner Syndrome? Turner syndrome (TS) is a genetic condition found ...

  6. Ehlers-Danlos Syndrome

    MedlinePlus

    ... Danlos syndrome care at Mayo Clinic Symptoms Classic Ehlers-Danlos syndrome Signs and symptoms of the most common form ... but few or none of the skin symptoms. Ehlers-Danlos syndrome, vascular type People who have Ehlers-Danlos syndrome, ...

  7. 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.

  8. Image mottle in abdominal CT.

    PubMed

    Ende, J F; Huda, W; Ros, P R; Litwiller, A L

    1999-04-01

    To investigate image mottle in conventional CT images of the abdomen as a function of radiographic technique factors and patient size. Water-filled phantoms simulating the abdomens of adult (32 cm in diameter) and pediatric (16 cm in diameter) patients were used to investigate image mottle in CT as a function of x-ray tube potential and mAs. CT images from 39 consecutive patients with noncontrast liver scans and 49 patients with iodine contrast scans were analyzed retrospectively. Measurements were made of the mean liver parenchyma Hounsfield unit value and the corresponding image mottle. For a given water phantom and x-ray tube potential, image mottle was proportional to the mAs-0.5. Increasing the phantom diameter from 16 cm (pediatric) to 32 cm increased the mottle by a factor of 2.4, and increasing the x-ray tube potential from 80 kVp to 140 kVp reduced the mottle by a factor of 2.5. All patients were scanned at 120 kVp, with no correlation between patient size and the x-ray tube mAs. The mean mottle level was 7.8 +/- 2.2 and 10.0 +/- 2.5 for the noncontrast and contrast studies, respectively. An increase in patient diameter of 3 cm would require approximately 65% more mAs to maintain the same level of image mottle. The mottle in abdominal CT images may be controlled by adjusting radiographic technique factors, which should be adjusted to take into account the size of the patient undergoing the examination.

  9. 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.

  10. 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

  11. Pseudocalcification on chest CT scan.

    PubMed

    Tiruvoipati, R; Balasubramanian, S K; Entwisle, J J; Firmin, R K; Peek, G J

    2007-07-01

    Liquid ventilation with perfluorocarbons is used in severe respiratory failure that cannot be managed by conventional methods. Very little is known about the use of liquid ventilation in paediatric patients with respiratory failure and there are no reports describing the distribution and excretion of perfluorocarbons in paediatric patients with severe respiratory failure. The aim of this report is to highlight the prolonged retention of perfluorocarbons in a paediatric patient, mimicking pulmonary calcification and misleading the interpretation of the chest CT scan. A 10-year-old girl was admitted to our intensive care unit with severe respiratory failure due to miliary tuberculosis. Extracorporeal membrane oxygenation (ECMO) was used to support gas exchange and partial liquid ventilation (PLV) with perfluorodecalin was used to aid in oxygenation, lavage the lungs and clear thick secretions. The patient developed a pneumothorax (fluorothorax) on the next day and PLV was discontinued. Multiple bronchoalveolar lavages were performed to clear thick secretions. With no improvement in lung function over the next month a CT scan of the chest was performed. This revealed extensive pulmonary fibrosis and multiple high attenuation lesions suggestive of pulmonary calcification. To exclude perfluorodecalin as the cause for high attenuation lesions, a sample of perfluorodecalin was scanned to estimate the Hounsfield unit density, which was similar to the density of high attenuation lesions on chest CT scan. High-density opacification should be interpreted with caution, especially following liquid ventilation.

  12. CT-assisted agile manufacturing

    NASA Astrophysics Data System (ADS)

    Stanley, James H.; Yancey, Robert N.

    1996-11-01

    The next century will witness at least two great revolutions in the way goods are produced. First, workers will use the medium of virtual reality in all aspects of marketing, research, development, prototyping, manufacturing, sales and service. Second, market forces will drive manufacturing towards small-lot production and just-in-time delivery. Already, we can discern the merging of these megatrends into what some are calling agile manufacturing. Under this new paradigm, parts and processes will be designed and engineered within the mind of a computer, tooled and manufactured by the offspring of today's rapid prototyping equipment, and evaluated for performance and reliability by advanced nondestructive evaluation (NDE) techniques and sophisticated computational models. Computed tomography (CT) is the premier example of an NDE method suitable for future agile manufacturing activities. It is the only modality that provides convenient access to the full suite of engineering data that users will need to avail themselves of computer- aided design, computer-aided manufacturing, and computer- aided engineering capabilities, as well as newly emerging reverse engineering, rapid prototyping and solid freeform fabrication technologies. As such, CT is assured a central, utilitarian role in future industrial operations. An overview of this exciting future for industrial CT is presented.

  13. 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.

  14. 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

  15. 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.

  16. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. Written permission from the American Academy of Family Physicians is required for reproduction of this material in whole or in part in any form or medium.

  17. Syndromes with supernumerary teeth.

    PubMed

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  18. Gorlin's syndrome.

    PubMed

    Ramsden, R T; Barrett, A

    1975-06-01

    The uncommon familial syndrome of multiple odontogenic keratocysts, basal cell naevi and skeletal anomalies is reviewed, and seven cases are described, including one patient who developed squamous cell carcinoma in a previous odontogenic keratocyst of the maxilla. We wish to thank Consultants from the Royal National Throat, Nose and Ear Hospital, The Middlesex Hospital and the Eastman Dental Hospital, who allowed us access to their patients; Mr. D. Garfield Davies, Dr. M. F. Spittle, Mr. D. Winstock, Mr. H. P. Cook, Professor H. C. Killey and Mr. L. W. Kay. We are grateful to Professor L. Michaels and Mr. D. J. Connolly for preparation of the illustrations and to Mrs. A. Matthews for the typescript.

  19. 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.

  20. 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.

  1. Budd-Chiari syndrome

    PubMed Central

    Martens, Pieter

    2015-01-01

    Budd-Chiari syndrome (BCS) is a rare and potentially life-threatening disorder characterized by obstruction of the hepatic outflow tract at any level between the junction of the inferior vena cava with the right atrium and the small hepatic veins. In the West, BCS is a rare hepatic manifestation of one or more underlying prothrombotic risk factors. The most common underlying prothrombotic risk factor is a myeloproliferative disorder, although it is now recognized that almost half of patients have multiple underlying prothrombotic risk factors. Clinical manifestations can be diverse, making BCS a possible differential diagnosis of many acute and chronic liver diseases. The index of suspicion should be very low if there is a known underlying prothrombotic risk factor and new onset of liver disease. Doppler ultrasound is sufficient for confirming the diagnosis, although tomographic imaging (computed tomography (CT) or magnetic resonance imaging (MRI)) is often necessary for further treatment and discussion with a multidisciplinary team. Anticoagulation is the cornerstone of the treatment. Despite the use of anticoagulation, the majority of patients need additional (more invasive) treatment strategies. Algorithms consisting of local angioplasty, TIPS and liver transplantation have been proposed, with treatment choice dictated by a lack of response to a less-invasive treatment regimen. The application of these treatment strategies allows for a five-year survival rate of 90%. In the long term the disease course of BCS can sometimes be complicated by recurrence, progression of the underlying myeloproliferative disorder, or development of post-transplant lymphoma in transplant patients. PMID:26668741

  2. Multislice CT urography: state of the art.

    PubMed

    Noroozian, M; Cohan, R H; Caoili, E M; Cowan, N C; Ellis, J H

    2004-01-01

    Recent improvements in helical CT hardware and software have provided imagers with the tools to obtain an increasingly large number of very thin axial images. As a result, a number of new applications for multislice CT have recently been developed, one of which is CT urography. The motivation for performing CT urography is the desire to create a single imaging test that can completely assess the kidneys and urinary tract for urolithiasis, renal masses and mucosal abnormalities of the renal collecting system, ureters and bladder. Although the preferred technique for performing multislice CT urography has not yet been determined and results are preliminary, early indications suggest that this examination can detect even subtle benign and malignant urothelial abnormalities and that it has the potential to completely replace excretory urography within the next several years. An important limitation of multislice CT urography is increased patient radiation exposure encountered when some of the more thorough recommended techniques are utilized.

  3. 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

  4. 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.

  5. 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

  6. Pediatric CT and radiation: our responsibility

    NASA Astrophysics Data System (ADS)

    Frush, Donald P.

    2009-02-01

    In order to discuss the cost-benefit ratio of CT examinations in children, one must be familiar with the reasons why CT can provide a high collective or individual dose. The reasons include increasing CT use as well as lack of attention to dose reduction strategies. While those have been substantial efforts for dose reduction, additional work is necessary to prevent unnecessary radiation exposure. This responsibility is shared between science and medicine, industry, regulatory agencies, and patients as well.

  7. 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.

  8. 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

  9. Laxative-free CT colonography

    PubMed Central

    Slater, A; Betts, M; D'Costa, H

    2012-01-01

    Objectives The aim of this study was to determine if the introduction of faecal tagging to CT colonography (CTC) made the examination easier to tolerate or reduced the number of false-positives. Methods Our department changed bowel preparation for CT colonography from Picolax (Ferring Pharmaceuticals Ltd, London, UK) to Gastrografin® (Bracco Diagnostics Inc, Princeton, NJ) only with a modified diet. Questionnaires were given to a subgroup of patients within these cohorts. The numbers of false-positives were compared between two cohorts before and after this change. false-positives were defined as lesions reported on CT that were not confirmed by subsequent endoscopic examination. Polyps were matched if they were in the same or adjacent segments, and were within 5 mm of the reported size. Results 412 patients were identified from the Picolax cohort, and 116 from the Gastrografin cohort. 62 patients in each group completed questionnaires. Gastrografin produced less diarrhoea; 34% had five or more bowel motions in the previous day and night, compared with 77% for Picolax (p<0.001), although more patients found drinking it unpleasant compared with Picolax (85% reported drinking Picolax as “easy” vs 61% for Gastrografin; p=0.002). Picolax produced more non-diagnostic examinations, although this difference was not statistically significant. There was not a significant reduction in the numbers of false-positives (2 out of 112 for Gastrografin group, 14 out of 389 for the Picolax group; p=0.54). Conclusion Switching from Picolax to Gastrografin as a CTC preparation technique produced less diarrhoea, but did not reduce the number of false-positives. PMID:22167512

  10. The Rh=ct universe

    NASA Astrophysics Data System (ADS)

    Melia, F.; Shevchuk, A. S. H.

    2012-01-01

    The backbone of standard cosmology is the Friedmann-Robertson-Walker solution to Einstein's equations of general relativity (GR). In recent years, observations have largely confirmed many of the properties of this model, which are based on a partitioning of the universe's energy density into three primary constituents: matter, radiation and a hypothesized dark energy which, in Λ cold dark matter (ΛCDM), is assumed to be a cosmological constant Λ. Yet with this progress, several unpalatable coincidences (perhaps even inconsistencies) have emerged along with the successful confirmation of expected features. One of these is the observed equality of our gravitational horizon Rh(t0) with the distance ct0 light has travelled since the big bang, in terms of the current age t0 of the universe. This equality is very peculiar because it need not have occurred at all and, if it did, should only have happened once (right now) in the context of ΛCDM. In this paper, we propose an explanation for why this equality may actually be required by GR, through the application of Birkhoff's theorem and the Weyl postulate, at least in the case of a flat space-time. If this proposal is correct, Rh(t) should be equal to ct for all cosmic time t, not just its present value t0. Therefore, models such as ΛCDM would be incomplete because they ascribe the cosmic expansion to variable conditions not consistent with this relativistic constraint. We show that this may be the reason why the observed galaxy correlation function is not consistent with the predictions of the standard model. We suggest that an Rh=ct universe is easily distinguishable from all other models at large redshift (i.e. in the early universe), where the latter all predict a rapid deceleration.

  11. Laxative-free CT colonography.

    PubMed

    Slater, A; Betts, M; D'Costa, H

    2012-08-01

    The aim of this study was to determine if the introduction of faecal tagging to CT colonography (CTC) made the examination easier to tolerate or reduced the number of false-positives. Our department changed bowel preparation for CT colonography from Picolax (Ferring Pharmaceuticals Ltd, London, UK) to Gastrografin (Bracco Diagnostics Inc, Princeton, NJ) only with a modified diet. Questionnaires were given to a subgroup of patients within these cohorts. The numbers of false-positives were compared between two cohorts before and after this change. false-positives were defined as lesions reported on CT that were not confirmed by subsequent endoscopic examination. Polyps were matched if they were in the same or adjacent segments, and were within 5 mm of the reported size. 412 patients were identified from the Picolax cohort, and 116 from the Gastrografin cohort. 62 patients in each group completed questionnaires. Gastrografin produced less diarrhoea; 34% had five or more bowel motions in the previous day and night, compared with 77% for Picolax (p<0.001), although more patients found drinking it unpleasant compared with Picolax (85% reported drinking Picolax as "easy" vs 61% for Gastrografin; p=0.002). Picolax produced more non-diagnostic examinations, although this difference was not statistically significant. There was not a significant reduction in the numbers of false-positives (2 out of 112 for Gastrografin group, 14 out of 389 for the Picolax group; p=0.54). Switching from Picolax to Gastrografin as a CTC preparation technique produced less diarrhoea, but did not reduce the number of false-positives.

  12. 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.

  13. Compression fractures detection on CT

    NASA Astrophysics Data System (ADS)

    Bar, Amir; Wolf, Lior; Bergman Amitai, Orna; Toledano, Eyal; Elnekave, Eldad

    2017-03-01

    The presence of a vertebral compression fracture is highly indicative of osteoporosis and represents the single most robust predictor for development of a second osteoporotic fracture in the spine or elsewhere. Less than one third of vertebral compression fractures are diagnosed clinically. We present an automated method for detecting spine compression fractures in Computed Tomography (CT) scans. The algorithm is composed of three processes. First, the spinal column is segmented and sagittal patches are extracted. The patches are then binary classified using a Convolutional Neural Network (CNN). Finally a Recurrent Neural Network (RNN) is utilized to predict whether a vertebral fracture is present in the series of patches.

  14. [CT diagnosis of hemorrhagic renal cysts].

    PubMed

    Wu, Y Z; Li, D T; Luo, J G

    2001-06-28

    CT signs of nineteen cases of hemorrhagic renal cysts that surgically and pathologically proved were analyzed. 8 of the 19 cases revealed as high density hemorrhagic lesion. CT signs in those 8 patients include low density rim sign, cyst immerging sign, and perirenal fascia thickening. The other 11 of 19 cases revealed as low density lesion. CT signs include thickened cyst wall and inhomogeneous density of the cystic content. The hounsfield unit of the lesion is correlated with the duration of disease. It is suggested that CT is valuable in diagnosis of high density hemorrhagic renal cysts, and it gives a clue to the diagnosis of low density hemorrhagic renal cysts.

  15. 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

  16. 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

  17. Gorlin-goltz syndrome.

    PubMed

    Pandeshwar, Padma; Jayanthi, K; Mahesh, D

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

  18. 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.

  19. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    PubMed

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  20. 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.

  1. Dandy-Walker syndrome studied by computed tomography and pneumoencephalography

    SciTech Connect

    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

  2. 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.

  3. The metabolic syndrome in polycystic ovary syndrome.

    PubMed

    Essah, P A; Nestler, J E

    2006-03-01

    Much overlap is present between the polycystic ovary syndrome (PCOS) and the metabolic syndrome. This article reviews the existing data regarding the prevalence, characteristics, and treatment of the metabolic syndrome in women with PCOS. The prevalence of the metabolic syndrome in PCOS is approximately 43-47%, a rate 2-fold higher than that for women in the general population. High body mass index and low serum HDL cholesterol are the most frequently occurring components of the metabolic syndrome in PCOS. The pathogenic link between the metabolic syndrome and PCOS is most likely insulin resistance. Therefore, the presence of the metabolic syndrome in PCOS suggests a greater degree of insulin resistance compared to PCOS without the metabolic syndrome. Obesity, atherogenic dyslipidemia, hypertension, impaired fasting glucose/impaired glucose tolerance, and vascular abnormalities are all common metabolic abnormalities present in PCOS. Lifestyle modification has proven benefit and pharmacological therapy with insulin-sensitizing agents has potential benefit in the treatment of the metabolic syndrome in women with PCOS.

  4. 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.

  5. Hepatorenal syndrome.

    PubMed

    Papper, S

    1980-01-01

    Renal failure without apparent cause (the hepatorenal syndrome) may develop in the course of cirrhosis of the liver. While the development of renal failure bears a poor prognosis, spontaneous recovery can occur. The data suggest that for the most part patients die in rather than of renal failure. The latter seems to be only part of a broader more fundamental disturbance. The pathogenesis of HRS is unknown, but the evidence supports an impairment of effective renal perfusion. The two major hypotheses concerning the nature of the impaired perfusion are that it is a physiologic response to alterations in the extrarenal circulation, and that there is an unidentified humoral agent(s) produced by or inadequately inactivated by or bypassing the diseased liver and causing circulatory changes in the kidney as well as in other organs. It is possible that both mechanisms are operative. Treatment is unsatisfactory and emphasis is presently best placed upon searching for more treatable causes of renal functional impairment in individual patients.

  6. Noonan syndrome.

    PubMed

    Turner, Anne M

    2014-10-01

    Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ∼50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. © 2011 The Author. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  7. [Pseudoexfoliation syndrome].

    PubMed

    Esmail, F

    1991-05-01

    The Frequency of the Pseudoexfoliation-Syndrom (= PES) was investigated about two months in a prospective study of 1069 patients in the university eye hospital of Zurich. 7.35% of these patients had a PES with or without glaucoma. Among the clinic patients there were 9.9% and among the policlinic patients 6.26%. All our patients were elder than 60 years old, 58.9% between 70-85 years. There were 33.37% men and 66.63% women. 33% of the PES-patients had a tension over 22 mmHg. 42.86% of the patients had the highest tension over 30 mmHg. 33.33% (= 26 patients) had a PES without glaucoma and 66.66% (= 52 patients) a PES with glaucoma. 56.42% of the patients (= 44 patients) had in one eye PES and 43.58% (34 patients) in both eyes. 9.61% (= 5 pat.) had an absolute PES-glaucoma in one eye.

  8. Premenstrual syndrome

    PubMed Central

    Yonkers, Kimberly Ann; O’Brien, P M Shaughn; Eriksson, Elias

    2011-01-01

    Most women of reproductive age have some physical discomfort or dysphoria in the weeks before menstruation. Symptoms are often mild, but can be severe enough to substantially affect daily activities. About 5–8% of women thus suffer from severe premenstrual syndrome (PMS); most of these women also meet criteria for premenstrual dysphoric disorder (PMDD). Mood and behavioural symptoms, including irritability, tension, depressed mood, tearfulness, and mood swings, are the most distressing, but somatic complaints, such as breast tenderness and bloating, can also be problematic. We outline theories for the underlying causes of severe PMS, and describe two main methods of treating it: one targeting the hypothalamus-pituitary-ovary axis, and the other targeting brain serotonergic synapses. Fluctuations in gonadal hormone levels trigger the symptoms, and thus interventions that abolish ovarian cyclicity, including long-acting analogues of gonadotropin-releasing hormone (GnRH) or oestradiol (administered as patches or implants), effectively reduce the symptoms, as can some oral contraceptives. The effectiveness of serotonin reuptake inhibitors, taken throughout the cycle or during luteal phases only, is also well established. PMID:18395582

  9. Pseudohypopituitary syndromes.

    PubMed

    Heinze, E; Holl, R W

    1992-07-01

    In a child with short stature, the finding of normal or elevated GH levels in the presence of low concentrations of IGF-I raises the following possibilities. (1) A modification of the GH molecule, which is still detected by RIA, but inactive biologically. Therefore, an RRA or bioassay for hGH should result in considerably lower GH measurements compared with RIA determinations in the same sample. As both bioassays as well as RRAs are not widely available and are hampered by several difficulties, few children with this presumptive diagnosis have been described. So far, it has not been possible to define a specific molecular defect in one of these patients. (2) Abnormalities of the GH receptor or postreceptor mechanisms lead to a GH insensitivity syndrome. Laron-type dwarfism is usually due to a deletion in the gene for hepatic GH receptors: the serum binding protein for GH is absent. In three additional populations, the Pygmies of Zaire, the little women of Loja in Ecuador and the Mountain Ok people in Papua New Guinea, alterations of GH receptor function have been described. Finally, some reports describe patients with normal or elevated serum levels of both growth hormone and IGF-I in whom resistance to IGF has been implied in the pathogenesis of small stature.

  10. 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.

  11. 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

  12. Central Pain Syndrome

    MedlinePlus

    ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ... cord. This syndrome can be caused by stroke, multiple sclerosis, tumors, epilepsy, brain or spinal cord trauma, or ...

  13. Thoracic Outlet Syndrome

    MedlinePlus

    ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ... including rotator cuff injuries, cervical disc disorders, fibromyalgia, multiple sclerosis, complex regional pain syndrome, and tumors of the ...

  14. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. PCOS causes cysts ( ... PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. PCOS is ...

  15. Carpal Tunnel Syndrome

    MedlinePlus

    ... a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ... three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important ...

  16. Guillain-Barre Syndrome

    MedlinePlus

    Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS ... your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, ...

  17. Chinese restaurant syndrome

    MedlinePlus

    Chinese restaurant syndrome is a set of symptoms that some people have after eating Chinese food. A food additive ... Chinese restaurant syndrome is most often diagnosed based on the symptoms. The health care provider may ask the following ...

  18. Obesity hypoventilation syndrome (OHS)

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000085.htm Obesity hypoventilation syndrome (OHS) To use the sharing features on this page, please enable JavaScript. Obesity hypoventilation syndrome (OHS) is a condition in some ...

  19. Polycystic Ovary Syndrome

    MedlinePlus

    Polycystic ovary syndrome (PCOS) Overview Polycystic ovary syndrome (PCOS) is a hormonal disorder common among women of reproductive age. Women with PCOS may have infrequent or prolonged menstrual periods ...

  20. [Kniest's syndrome (author's transl)].

    PubMed

    Kniest, W; Leiber, B

    1977-12-01

    The clinical picture of the Kniest's syndrome is described. The syndrome is a rare hereditary condition with generalized bone dysplasia, disproportional dwarfism, conduction deafness and severe myopia, retinal detachment, cataract and amaurosis.

  1. Down Syndrome (For Kids)

    MedlinePlus

    ... First Aid & Safety Doctors & Hospitals Videos Recipes for Kids Kids site Sitio para niños How the Body ... people who have it. What's Life Like for Kids With Down Syndrome? Many kids with Down syndrome ...

  2. Diabetic Hyperosmolar Syndrome

    MedlinePlus

    ... for treatment. Don't wait until your blood sugar is high enough to cause diabetic hyperosmolar syndrome. You have ... prevent diabetic hyperosmolar syndrome. Know the symptoms of high blood sugar. Be alert for the warning symptoms of high ...

  3. Tics and Tourette Syndrome

    MedlinePlus

    ... for Nausea and Vomiting Home Diseases and Conditions Tics and Tourette Syndrome Condition Tics and Tourette Syndrome Share Print Table of Contents1. ... little or no control over. These are called tics. Several different tics can happen at the same ...

  4. Prune belly syndrome

    MedlinePlus

    ... treat or help prevent urinary tract infections. Support Groups The following resources can provide more information on prune belly syndrome: Prune Belly Syndrome Network -- www.prunebelly.org National Organization for Rare Disorders -- ...

  5. Restless Legs Syndrome

    MedlinePlus

    ... Legs Syndrome Condition Restless Legs Syndrome Share Print Table of Contents1. Overview2. Symptoms3. Diagnosis4. Treatment5. Questions Overview ... twitch when you try and sleep (also called periodic limb movements of sleep or PLMS). Diagnosis How ...

  6. Marfan syndrome (image)

    MedlinePlus

    Marfan syndrome is a disorder of connective tissue which causes skeletal defects typically recognized in a tall, lanky person. A person with Marfan syndrome may exhibit long limbs and spider-like fingers, ...

  7. Kleine-Levin Syndrome

    MedlinePlus

    ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ... between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some ...

  8. Cubital Tunnel Syndrome

    MedlinePlus

    ... Tunnel Syndrome Find a hand surgeon near you. Videos Cubital Tunnel Syndrome Close Popup Figures Figure 1 - ... or "in." Also, avoid using media types like "video," "article," and "picture." Tip 4: Your results can ...

  9. Dubin-Johnson syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000242.htm Dubin-Johnson syndrome To use the sharing features on this page, please enable JavaScript. Dubin-Johnson syndrome (DJS) is a disorder passed down through ...

  10. Os Trigonum Syndrome

    MedlinePlus

    ... usually triggered by an injury, such as an ankle sprain. The syndrome is also frequently caused by repeated ... other conditions, such as an Achilles tendon injury, ankle sprain or talus fracture. Diagnosis of os trigonum syndrome ...

  11. Acute respiratory distress syndrome

    MedlinePlus

    ... page: //medlineplus.gov/ency/article/000103.htm Acute respiratory distress syndrome To use the sharing features on this page, please enable JavaScript. Acute respiratory distress syndrome (ARDS) is a life-threatening lung ...

  12. 4H Syndrome

    MedlinePlus

    ... syndrome? 4H syndrome is short for hypomyelination, hypogonadotropic hypogonadism and hypodontia. Hypomyelination means that there is lack ... myelin in the central nervous system. In hypogonadotropic hypogonadism, normal puberty development is absent because the central ...

  13. 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.

  14. 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

  15. CT of schistosomal calcification of the intestine

    SciTech Connect

    Fataar, S.; Bassiony, H.; Satyanath, S.

    1985-01-01

    The spectrum of schistosomal colonic calcification on abdominal radiographs has been described. The appearance on computed tomography (CT) is equally distinctive and occurs with varying degrees of genitourinary calcification. The authors have experience in three cases with the appearance on CT of intestinal calcification due to schistosomiasis.

  16. 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.

  17. CT Innovators Reunion: Where Are They Now?

    ERIC Educational Resources Information Center

    Schaffhauser, Dian

    2012-01-01

    Each year, "Campus Technology" ("CT") gazes across higher ed horizons to identify the most innovative IT programs at colleges and universities around the globe. The projects "CT" profiles are inspiring examples of technology making a difference on campus--at least at that moment. The question is, have they stood the…

  18. 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

  19. [Myelodysplastic syndromes].

    PubMed

    Thol, F; Heuser, M; Ganser, A

    2015-04-01

    Myelodysplastic syndrome (MDS) encompasses a heterogeneous group of diseases originating in hematopoietic stem cells and is characterized by inefficient hematopoiesis and dysplastic changes in the bone marrow. In peripheral blood patients show anemia (mostly macrocytic), frequently accompanied by neutropenia and thrombocytopenia. Thus, clinically the patients suffer from fatigue (anemia), increased bleeding (thrombocytopenia) and infectious complications (neutropenia). Approximately one quarter of MDS patients develop acute myeloid leukemia (AML) in the course of the disease, which is characterized by a 20 % or more increase of blasts in the bone marrow. The estimated overall survival as well as the risk for AML transformation can be calculated with the international prognostic scoring system (IPSS) as well as the revised IPSS score (IPSS-R). Novel sequencing methods (e.g. next generation sequencing) allow the detection of recurrent gene mutations in MDS patients. Genes of the splicing machinery as well as genes involved in epigenetic regulation (e.g. ASXL1 and TET2) are most frequently mutated in MDS. Therapy is selected based on the patient risk profile (IPSS). Allogeneic stem cell transplantation is a curative approach for high risk patients (i.e. IPSS int-2 and higher) with a good performance status and a biological age below 70 years. Otherwise, high risk patients are treated with demethylating agents (e.g. decitabine and azacitidine). Low risk patients (IPSS low and int-1) mainly receive supportive therapy including iron chelation. An exceptional position is presented by MDS with an isolated 5q deletion as it can be treated with lenalidomide with good success. Enrolling patients in clinical trials is strongly recommended to improve the prospects of this disease.

  20. Postthrombotic syndrome.

    PubMed

    Pesavento, Raffaele; Bernardi, Enrico; Concolato, Alessia; Dalla Valle, Fabio; Pagnan, Antonio; Prandoni, Paolo

    2006-10-01

    Despite considerable progress in the diagnosis and treatment of deep vein thrombosis (DVT) of the lower extremities, one of every three patients will develop postthrombotic sequelae within 2 years; these sequelae are severe in approximately 20% of cases and produce considerable socioeconomic consequences. Among factors potentially related to the development of the postthrombotic syndrome (PTS) are older age, obesity, insufficient oral anticoagulant therapy, and recurrent ipsilateral thrombosis. Whether the extent and location of the initial thrombosis are associated with the development of PTS is controversial. Based on recent findings, the lack of vein recanalization within the first 6 months appears to be an important predictor of PTS, whereas the development of transpopliteal venous reflux is not. The diagnosis of PTS can be made on clinical grounds for patients with a history of DVT. The combination of a standardized clinical evaluation with the results of compression ultrasonography and Doppler ultrasound helps diagnose or exclude a previous proximal vein thrombosis. According to the results of recent clinical studies, the prompt administration of adequate compression elastic stockings in patients with symptomatic DVT has the potential to reduce the frequency of late PTS development by half. The management of this condition is demanding and often frustrating. However, when carefully supervised and instructed to wear proper elastic stockings, more than 50% of patients will either remain stable or improve during long-term follow-up. Clinical presentation helps predict the prognosis; the outcome of patients who refer with initially severe manifestations is more favorable than that of patients whose symptoms deteriorate progressively over time.

  1. Systemic Air Embolism After CT-guided Lung Biopsy

    ClinicalTrials.gov

    2017-11-27

    Patients Who Underwent Percutaneous Lung Biopsy Under CT Guidance; Patients Who Presented Systemic Air Embolism After Percutaneous Lung Biopsy Under CT Guidance Depicted at the Time of the Procedure on a Whole Thoracic CT

  2. Kounis syndrome and ziprasidone.

    PubMed

    Hamera, Leonard; Khishfe, Basem F

    2017-03-01

    Kounis syndrome (KS), described by Kounis and Zavras in 1991, is the manifestation of an allergic reaction preceding and leading to an acute coronary syndrome (ACS). There are three variants of Kounis Syndrome. Here we describe a novel case report of a type 1 variant secondary to Ziprasidone. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Fragile X syndrome

    MedlinePlus

    Martin-Bell syndrome; Marker X syndrome ... Fragile X syndrome is caused by a change in a gene called FMR1 . A small part of the gene ... repeated several times in one area of the X chromosome. The more repeats, the more likely the ...

  4. [XYY syndrome (diplo-Y syndrome)].

    PubMed

    Braun-Scharm, H; Schroeder-Kurth, T M

    1986-01-01

    A case is reported of a 12-year-old boy with the XYY syndrome and unusual clinical symptoms. In addition, past research on the XYY syndrome and the current state of knowledge is reviewed, with special emphasis on psychopathology, psychiatry and genetic counseling.

  5. [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.

  6. 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

  7. 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.

  8. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    PubMed

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  9. [Preoperative CT Scan in middle ear cholesteatoma].

    PubMed

    Sethom, Anissa; Akkari, Khemaies; Dridi, Inès; Tmimi, S; Mardassi, Ali; Benzarti, Sonia; Miled, Imed; Chebbi, Mohamed Kamel

    2011-03-01

    To compare preoperative CT scan finding and per-operative lesions in patients operated for middle ear cholesteatoma, A retrospective study including 60 patients with cholesteatoma otitis diagnosed and treated within a period of 5 years, from 2001 to 2005, at ENT department of Military Hospital of Tunis. All patients had computed tomography of the middle and inner ear. High resolution CT scan imaging was performed using millimetric incidences (3 to 5 millimetres). All patients had surgical removal of their cholesteatoma using down wall technic. We evaluated sensitivity, specificity and predictive value of CT-scan comparing otitic damages and CT finding, in order to examine the real contribution of computed tomography in cholesteatoma otitis. CT scan analysis of middle ear bone structures shows satisfaction (with 83% of sensibility). The rate of sensibility decrease (63%) for the tympanic raff. Predictive value of CT scan for the diagnosis of cholesteatoma was low. However, we have noticed an excellent sensibility in the analysis of ossicular damages (90%). Comparative frontal incidence seems to be less sensible for the detection of facial nerve lesions (42%). But when evident on CT scan findings, lesions of facial nerve were usually observed preoperatively (spécificity 78%). Predictive value of computed tomography for the diagnosis of perilymphatic fistulae (FL) was low. In fact, CT scan imaging have showed FL only for four patients among eight. Best results can be obtained if using inframillimetric incidences with performed high resolution computed tomography. Preoperative computed tomography is necessary for the diagnosis and the evaluation of chronic middle ear cholesteatoma in order to show extending lesion and to detect complications. This CT analysis and surgical correlation have showed that sensibility, specificity and predictive value of CT-scan depend on the anatomic structure implicated in cholesteatoma damages.

  10. Right heart on multidetector CT

    PubMed Central

    Gopalan, D

    2011-01-01

    Right ventricular function plays an integral role in the pathogenesis and outcome of many cardiovascular diseases. Imaging the right ventricle has long been a challenge because of its complex geometry. In recent years there has been a tremendous expansion in multidetector row CT (MDCT) and its cardiac applications. By judicious modification of contrast medium protocol, it is possible to achieve good opacification of the right-sided cardiac chambers, thereby paving the way for exploring the overshadowed right heart. This article will describe the key features of right heart anatomy, review MDCT acquisition techniques, elaborate the various morphological and functional information that can be obtained, and illustrate some important clinical conditions associated with an abnormal right heart. PMID:22723537

  11. 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

  12. 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

  13. Management of postpolio syndrome.

    PubMed

    Thorsteinsson, G

    1997-07-01

    Recent research has shed light on the pathogenesis of the postpolio syndrome and has helped explain its symptoms and the rationale for management. The aim of this article is to familiarize physicians with this syndrome. The history, acute infection, definition, and diagnosis are discussed, as well as the various symptoms and their management. People with postpolio syndrome can educate health professionals about this condition and can help others inflicted with this syndrome. Thus far, no cure is available. A correct diagnosis is important, and the physician must realize that severe comorbidities tend to afflict people with this syndrome. Numerous management options are available to help these people enjoy a high quality of life.

  14. Hantavirus pulmonary syndrome.

    PubMed

    Simpson, Steven Q; Spikes, Leslie; Patel, Saurin; Faruqi, Ibrahim

    2010-03-01

    Hantavirus pulmonary syndrome, also known as hantavirus cardiopulmonary syndrome, is a recently described infectious syndrome found throughout the Americas. Although infection is sporadic and uncommon compared with other atypical pneumonia syndromes, its high mortality rate warrants the maintenance of a high index of suspicion in rural settings. Because no specific therapies are available for the disease, prevention and early recognition play an important role in reducing mortality from the disease. This article reviews the nature of the viruses that cause hantavirus pulmonary syndrome, the epidemiology and ecology of disease transmission, and disease recognition, treatment, and prevention. Copyright 2010 Elsevier Inc. All rights reserved.

  15. Gorlin-Goltz Syndrome

    PubMed Central

    Pandeshwar, Padma; Jayanthi, K.; Mahesh, D.

    2012-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome—NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions. PMID:23082255

  16. Fat embolism syndrome

    PubMed Central

    George, Jacob; George, Reeba; Dixit, R.; Gupta, R. C.; Gupta, N.

    2013-01-01

    Fat embolism syndrome is an often overlooked cause of breathlessness in trauma wards. Presenting in a wide range of clinical signs of varying severity, fat embolism is usually diagnosed by a physician who keeps a high degree of suspicion. The clinical background, chronology of symptoms and corroborative laboratory findings are instrumental in a diagnosis of fat embolism syndrome. There are a few diagnostic criteria which are helpful in making a diagnosis of fat embolism syndrome. Management is mainly prevention of fat embolism syndrome, and organ supportive care. Except in fulminant fat embolism syndrome, the prognosis is usually good. PMID:23661916

  17. Burning mouth syndrome.

    PubMed

    Crow, Heidi C; Gonzalez, Yoly

    2013-02-01

    Pain in the tongue or oral tissues described as "burning" has been referred to by many terms including burning mouth syndrome. When a burning sensation in the mouth is caused by local or systemic factors, it is called secondary burning mouth syndrome and when these factors are treated the pain will resolve. When burning mouth syndrome occurs in the absence of identified risk indicators, the term primary burning mouth syndrome is utilized. This article focuses on descriptions, etiologic theories, and management of primary burning mouth syndrome, a condition for which underlying causative agents have been ruled out. Copyright © 2013. Published by Elsevier Inc.

  18. 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.

  19. 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.

  20. [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.

  1. 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.

  2. A Rare Variant of Wallenberg’s Syndrome: Opalski syndrome

    PubMed Central

    KK, Parathan; P, Chitrambalam; Aiyappan, Senthil Kumar; N, Deepthi

    2014-01-01

    Lateral Medullary Syndrome (LMS) is a well-documented vascular syndrome of the posterior circulation territory. This syndrome is easily localised because of characteristic presentation, unique territory of blood supply and very small area of involvement. We present a case of Wallenberg’s syndrome which did not have all the classical components of the syndrome, like Horner’s syndrome. Opalski syndrome is a rare variant of Wallenberg syndrome, where lateral medullary syndrome is associated with ipsilateral hemiparesis. This case report highlights how differential involvement of the lateral part of medulla can result in varied presentation. PMID:25177595

  3. 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.

  4. FDG PET/CT in bone sarcoidosis.

    PubMed

    Grozdic Milojevic, Isidora; Sobic-Saranovic, Dragana; Videnovic-Ivanov, Jelica; Saranovic, Djordjije; Odalovic, Strahinja; Artiko, Vera

    2016-03-29

    Bone sarcoidosis is rare manifestation of disease usually accompanied with pulmonary involvement. Until today, exact prevalence of bone sarcoidosis is not known, since reported prevalence varies widely depending on the studied population and the used diagnostic techniques. To determine the prevalence of bone involvement and distribution pattern in active chronic sarcoidosis by using FDG PET/CT. Between January 2010 and December 2011, 98 patients with chronic sarcoidosis and presence of prolonged symptoms or other findings suggestive of active disease were referred to FDG PET/CT examination. Active disease was found in 82 patients, and they all were screened for presence of bone sarcoidosis on FDG PET/CT. All patients also underwent MDCT and assessment of serum ACE level. Bone sarcoidosis was present in 18/82 patients with active sarcoidosis. FDG uptake in bones was focal in 8 (44.4%), diffuse in 6 (33.3%) and both diffuse and focal in 4 (22.2%) patients. CT indicated bone abnormalities only in 5% patients. Osseous involvement was present in: pelvis (61.1%), vertebrae (44.4%), ribs (27.8%) and bone marrow (16.7%). Some patients had two or more locations of disease. Follow-up FDG PET/CT showed normal findings in two patients, same localization of active disease in four patients and progression of disease in one. In patients with active chronic sarcoidosis 22% of patients had osseous abnormalities on FDG PET/CT that mostly were not detected on CT.

  5. Ultrahigh-resolution CT and DR scanner

    NASA Astrophysics Data System (ADS)

    DiBianca, Frank A.; Gupta, Vivek; Zou, Ping; Jordan, Lawrence M.; Laughter, Joseph S.; Zeman, Herbert D.; Sebes, Jeno I.

    1999-05-01

    A new technique called Variable-Resolution X-ray (VRX) detection that dramatically increases the spatial resolution in computed tomography (CT) and digital radiography (DR) is presented. The technique is based on a principle called 'projective compression' that allows the resolution element of a CT detector to scale with the subject or field size. For very large (40 - 50 cm) field sizes, resolution exceeding 2 cy/mm is possible and for very small fields, microscopy is attainable with resolution exceeding 100 cy/mm. Several effects that could limit the performance of VRX detectors are considered. Experimental measurements on a 16-channel, CdWO4 scintillator + photodiode test array yield a limiting MTF of 64 cy/mm (8(mu) ) in the highest-resolution configuration reported. Preliminary CT images have been made of small anatomical specimens and small animals using a storage phosphor screen in the VRX mode. Measured detector resolution of the CT projection data exceeds 20 cy/mm (less than 25 (mu) ); however, the final, reconstructed CT images produced thus far exhibit 10 cy/mm (50 (mu) ) resolution because of non-flatness of the storage phosphor plates, focal spot effects and the use of a rudimentary CT reconstruction algorithm. A 576-channel solid-state detector is being fabricated that is expected to achieve CT image resolution in excess of that of the 26-channel test array.

  6. 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.

  7. 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.

  8. Intra-axiom redundancies in SNOMED CT.

    PubMed

    Dentler, Kathrin; Cornet, Ronald

    2015-09-01

    Intra-axiom redundancies are elements of concept definitions that are redundant as they are entailed by other elements of the concept definition. While such redundancies are harmless from a logical point of view, they make concept definitions hard to maintain, and they might lead to content-related problems when concepts evolve. The objective of this study is to develop a fully automated method to detect intra-axiom redundancies in OWL 2 EL and apply it to SNOMED Clinical Terms (SNOMED CT). We developed a software program in which we implemented, adapted and extended readily existing rules for redundancy elimination. With this, we analysed occurence of redundancy in 11 releases of SNOMED CT (January 2009 to January 2014). We used the ELK reasoner to classify SNOMED CT, and Pellet for explanation of equivalence. We analysed the completeness and soundness of the results by an in-depth examination of the identified redundant elements in the July 2012 release of SNOMED CT. To determine if concepts with redundant elements lead to maintenance issues, we analysed a small sample of solved redundancies. Analyses showed that the amount of redundantly defined concepts in SNOMED CT is consistently around 35,000. In the July 2012 version of SNOMED CT, 35,010 (12%) of the 296,433 concepts contained redundant elements in their definitions. The results of applying our method are sound and complete with respect to our evaluation. Analysis of solved redundancies suggests that redundancies in concept definitions lead to inadequate maintenance of SNOMED CT. Our analysis revealed that redundant elements are continuously introduced and removed, and that redundant elements may be overlooked when concept definitions are corrected. Applying our redundancy detection method to remove intra-axiom redundancies from the stated form of SNOMED CT and to point knowledge modellers to newly introduced redundancies can support creating and maintaining a redundancy-free version of SNOMED CT. Copyright

  9. 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.

  10. Cine CT technique for dynamic airway studies

    SciTech Connect

    Ell, S.R.; Jolles, H.; Keyes, W.D.

    1985-07-01

    The advent of cine CT scanning with its 50-msec data acquisition time promises a much wider range of dynamic CT studies. The authors describe a method for dynamic evaluation of the extrathoracic airway, which they believe has considerable potential application in nonfixed upper-airway disease, such as sleep apnea and stridor of unknown cause. Conventional CT is limited in such studies by long data acquisition time and can be used to study only prolonged maneuvers such as phonation. Fluoroscopy and digital subtraction studies are limited by relatively high radiation dose and inability to image all wall motions simultaneously.

  11. Creation of anatomical models from CT data

    NASA Astrophysics Data System (ADS)

    Alaytsev, Innokentiy K.; Danilova, Tatyana V.; Manturov, Alexey O.; Mareev, Gleb O.; Mareev, Oleg V.

    2018-04-01

    Computed tomography is a great source of biomedical data because it allows a detailed exploration of complex anatomical structures. Some structures are not visible on CT scans, and some are hard to distinguish due to partial volume effect. CT datasets require preprocessing before using them as anatomical models in a simulation system. The work describes segmentation and data transformation methods for an anatomical model creation from the CT data. The result models may be used for visual and haptic rendering and drilling simulation in a virtual surgery system.

  12. How to create a cardiac CT clinic.

    PubMed

    Dowe, David A

    2007-02-01

    Coronary computed tomography (CT) angiography is taking an exponentially increasing role in the diagnostic algorithm of suspected coronary artery disease. It has the immediate potential of replacing stress tests as the first study a patient receives if suspected of having coronary artery disease. In the near future, it will likely precede all elective, diagnostic cardiac catheterizations secondary to its extraordinary negative predictive value. This paper discusses the 3 building blocks of a successful cardiac CT clinic, image quality, service, and marketing. It then discusses the significant differences in establishing a cardiac CT clinic depending on if the radiologist is hospital based or private office based.

  13. Hepatic CT image query using Gabor features

    NASA Astrophysics Data System (ADS)

    Zhao, Chenguang; Cheng, Hongyan; Zhuang, Tiange

    2004-07-01

    A retrieval scheme for liver computerize tomography (CT) images based on Gabor texture is presented. For each hepatic CT image, we manually delineate abnormal regions within liver area. Then, a continuous Gabor transform is utilized to analyze the texture of the pathology bearing region and extract the corresponding feature vectors. For a given sample image, we compare its feature vector with those of other images. Similar images with the highest rank are retrieved. In experiments, 45 liver CT images are collected, and the effectiveness of Gabor texture for content based retrieval is verified.

  14. 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.

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

    SciTech Connect

    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

  16. 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

  17. 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

  18. [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.

  19. 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.

  20. 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.

  1. 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

  2. Radiation exposure in whole body CT screening.

    PubMed

    Suresh, Pamidighantam; Ratnam, S V; Rao, K V J

    2011-04-01

    Using a technology that "takes a look" at people's insides and promises early warnings of cancer, cardiac disease, and other abnormalities, clinics and medical imaging facilities nationwide are touting a new service for health conscious people: "Whole body CT screening" this typically involves scanning the body from the chin to below the hips with a form of x-ray imaging that produces cross-sectional images. In USA direct-to-consumer marketing of whole body CT is occurring today in many metropolitan areas. Free standing CT screening centres are being sited in shopping malls and other high density public areas, and these centres are being advertised in the electronic and print media. In this context the present article discussed the pros and cons of having such centres in India with the advent of multislice CT leading to fast scan times.

  3. CT in the diagnosis of enterovesical fistulae

    SciTech Connect

    Goldman, S.M.; Fishman, E.K.; Gatewood, O.M.B.

    1985-06-01

    Enterovesical fistulae are difficult to demonstrate by conventional radiographic methods. Computed tomography (CT), a sensitive, noninvasive method of documenting the presence of such fistulae, is unique in its ability to outline the extravesical component of the primary disease process. Twenty enterovesical fistulae identified by CT were caused by diverticulitis (nine), carcinoma of the rectosigmoid (two), Crohn disease (three), gynecologic tumors (two), bladder cancer (one), cecal carcinoma (one), prostatic neoplasia (one), and appendiceal abscess (one). The CT findings included intravesical air (90%), passage of orally or rectally administered contrast medium into the bladder (20%), focal bladder-wall thickening (90%), thickening of adjacentmore » bowel wall (85%), and an extraluminal mass that often contained air (75%). CT proved to be an important new method in the diagnosis of enterovesical fistulae.« less

  4. Usage of CT data in biomechanical research

    NASA Astrophysics Data System (ADS)

    Safonov, Roman A.; Golyadkina, Anastasiya A.; Kirillova, Irina V.; Kossovich, Leonid Y.

    2017-02-01

    Object of study: The investigation is focused on development of personalized medicine. The determination of mechanical properties of bone tissues based on in vivo data was considered. Methods: CT, MRI, natural experiments on versatile test machine Instron 5944, numerical experiments using Python programs. Results: The medical diagnostics methods, which allows determination of mechanical properties of bone tissues based on in vivo data. The series of experiments to define the values of mechanical parameters of bone tissues. For one and the same sample, computed tomography (CT), magnetic resonance imaging (MRI), ultrasonic investigations and mechanical experiments on single-column test machine Instron 5944 were carried out. The computer program for comparison of CT and MRI images was created. The grayscale values in the same points of the samples were determined on both CT and MRI images. The Haunsfield grayscale values were used to determine rigidity (Young module) and tensile strength of the samples. The obtained data was compared to natural experiments results for verification.

  5. CT thermometry for cone-beam CT guided ablation

    NASA Astrophysics Data System (ADS)

    DeStefano, Zachary; Abi-Jaoudeh, Nadine; Li, Ming; Wood, Bradford J.; Summers, Ronald M.; Yao, Jianhua

    2016-03-01

    Monitoring temperature during a cone-beam CT (CBCT) guided ablation procedure is important for prevention of over-treatment and under-treatment. In order to accomplish ideal temperature monitoring, a thermometry map must be generated. Previously, this was attempted using CBCT scans of a pig shoulder undergoing ablation.1 We are extending this work by using CBCT scans of real patients and incorporating more processing steps. We register the scans before comparing them due to the movement and deformation of organs. We then automatically locate the needle tip and the ablation zone. We employ a robust change metric due to image noise and artifacts. This change metric takes windows around each pixel and uses an equation inspired by Time Delay Analysis to calculate the error between windows with the assumption that there is an ideal spatial offset. Once the change map is generated, we correlate change data with measured temperature data at the key points in the region. This allows us to transform our change map into a thermal map. This thermal map is then able to provide an estimate as to the size and temperature of the ablation zone. We evaluated our procedure on a data set of 12 patients who had a total of 24 ablation procedures performed. We were able to generate reasonable thermal maps with varying degrees of accuracy. The average error ranged from 2.7 to 16.2 degrees Celsius. In addition to providing estimates of the size of the ablation zone for surgical guidance, 3D visualizations of the ablation zone and needle are also produced.

  6. Basal cell nevus syndrome or Gorlin syndrome.

    PubMed

    Thalakoti, Srikanth; Geller, Thomas

    2015-01-01

    Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors. BCNS is caused by a mutation in the PTCH1 gene localized to 9q22.3. Its estimated prevalence varies between 1/55600 and 1/256000 with an equal male to female ratio. The medulloblastoma variant seen in Gorlin syndrome patients is of the desmoplastic type, characteristically presenting during the first 3 years of life. Therefore, children with desmoplastic medulloblastoma should be carefully screened for other features of BCNS. Radiation therapy for desmoplastic medulloblastoma should be avoided in BCNS patients as it may induce development of invasive BCCs and other tumors in the skin area exposed to radiation. This syndrome is a multisystem disorder so involvement of multiple specialists with a multimodal approach to detect and treat various manifestations at early stages will reduce the long-term sequelae and severity of the condition. Life expectancy is not significantly altered but morbidity from complications and cosmetic scarring can be substantial. © 2015 Elsevier B.V. All rights reserved.

  7. 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

  8. 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.

  9. 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.

  10. CT of trauma to the abnormal kidney

    SciTech Connect

    Rhyner, P.; Federle, M.P.; Jeffrey, R.B.

    Traumatic injuries to already abnormal kidneys are difficult to assess by excretory urography and clinical evaluation. Bleeding and urinary extravasation may accompany minor trauma; conversely, underlying tumors, perirenal hemorrhage, and extravasation may be missed on urography. Computed tomography (CT) was performed in eight cases including three neoplasms, one adult polycystic disease, one simple renal cyst, two hydronephrotic kidneys, and one horseshoe kidney. CT provided specific and clinically useful information in each case that was not apparent on excretory urography.

  11. Progress in Fully Automated Abdominal CT Interpretation

    PubMed Central

    Summers, Ronald M.

    2016-01-01

    OBJECTIVE Automated analysis of abdominal CT has advanced markedly over just the last few years. Fully automated assessment of organs, lymph nodes, adipose tissue, muscle, bowel, spine, and tumors are some examples where tremendous progress has been made. Computer-aided detection of lesions has also improved dramatically. CONCLUSION This article reviews the progress and provides insights into what is in store in the near future for automated analysis for abdominal CT, ultimately leading to fully automated interpretation. PMID:27101207

  12. [Münchhausen syndrome].

    PubMed

    Robert, J C; Cremniter, D; Lejonc, J L

    1991-04-20

    Münchhausen's syndrome is characterized by fictitious illnesses associated with hospital peregrination, pseudologia fantastica with a mythomanic discourse that includes strongly structured medical elements, passivity and dependance at examinations, and aggressiveness. The whole picture is so typical that the syndrome can easily be recognized. Cases of Münchhausen's syndrome by proxy (Meadow's syndrome) have been reported during the last few years; the condition concerns children suffering from diseases which are entirely due to their parents and can be compared with the battered child syndrome. In terms of nosology, among pathomimias Münchhausen's syndrome figures as a borderline state. Since it is impossible to establish positive relations with these patients, treatment fails in almost every case.

  13. SAPHO syndrome associated spondylitis

    PubMed Central

    Tanaka, Masato; Nakanishi, Kazuo; Misawa, Haruo; Sugimoto, Yoshihisa; Takahata, Tomohiro; Nakahara, Hiroyuki; Nakahara, Shinnosuke; Ozaki, Toshifumi

    2008-01-01

    The concept of synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome has been well clarified, after Chamot et al. suggested this peculiar disorder in 1987. The most commonly affected site in SAPHO syndrome is the anterior chest, followed by the spine. However, the clinical course and taxonomic concept of SAPHO spinal lesions are poorly understood. This study was performed to analyze: (1) the detailed clinical course of spinal lesions in SAPHO syndrome, and (2) the relationship between SAPHO syndrome with spinal lesions and seronegative spondyloarthropathy. Thirteen patients with spondylitis in SAPHO syndrome were analyzed. The features of spinal lesions were a chronic onset with a slight inflammatory reaction, and slowly progressing non-marginal syndesmophytes at multi spinal levels, besides the coexistence of specific skin lesions. SAPHO syndrome, especially spinal lesions related to palmoplantar pustulosis, can be recognized as a subtype of seronegative spondyloarthropathy. PMID:18642032

  14. 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

  15. CT vs. MRCP in choledocholithiasis jaundice.

    PubMed

    Petrescu, I; Bratu, A M; Petrescu, S; Popa, B V; Cristian, D; Burcos, T

    2015-01-01

    Obstructive jaundice can raise problems to diagnostic imaging. The radiologist must choose the most appropriate examination that delivers the most important diagnostic information because the differences between a lithiasic obstruction and a tumoral one are vital. This information helps the surgeon speed up the process of decision-making, because the treatment may be very different in relation to the nature of the obstruction. This study tries to demonstrate the diagnostic accuracy of computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) in detecting the obstacle in the common bile duct (CBD) and the possibility of establishing the lithiasic nature of the obstruction. A retrospective analysis was analyzed during an interval of 18 months that included jaundice patients admitted in the General Surgery Department of "Coltea" Clinical Hospital. They were examined by CT scanning and by MRCP, being suspected of choledocholithiasis. 63 patients were included in the study, 34 females and 29 males. 33 CT scans and 30 MRCP exams were performed. CT scan is useful in detecting residual or iterative choledocholithiasis in patients after cholecystectomy, contrast enhanced CT (CECT), being able to differentiate between lithiasic and non-lithiasic obstruction. MRCP delivers important anatomic details of the biliary tree; it is superior to CT in diagnosing the hepatocholedochal lithiasis; MRCP tends to replace endoscopic retrograde cholangiopancreatography (ERCP)--the diagnostic "gold standard" reducing the number of unnecessary invasive diagnostic procedures.

  16. The Rett syndrome in males.

    PubMed

    Philippart, M

    1990-01-01

    Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.

  17. Genetics Home Reference: WAGR syndrome

    MedlinePlus

    ... signs and symptoms of WAGR syndrome can include childhood-onset obesity, inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR syndrome includes childhood-onset obesity, it is often referred to as WAGRO syndrome. ...

  18. Genetics Home Reference: Bartter syndrome

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Bartter syndrome Bartter syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Bartter syndrome is a group of very similar kidney disorders ...

  19. Genetics Home Reference: Turner syndrome

    MedlinePlus

    ... Email Facebook Twitter Home Health Conditions Turner syndrome Turner syndrome Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Turner syndrome is a chromosomal condition that affects development in ...

  20. Cushing's syndrome in pregnancy.

    PubMed

    Nassi, Rossella; Ladu, Cristina; Vezzosi, Chiara; Mannelli, Massimo

    2015-02-01

    Cushing's syndrome is a rare condition in the general population and is even less common during pregnancy with only a few cases reported in literature. The diagnosis of Cushing's syndrome may be difficult during pregnancy because the typical features of the disorder and pregnancy may overlap. However, Cushing's syndrome results in increased fetal and maternal complications, and diagnosis and treatment are critical. This report describes a case of 26-year-old female at the 19th week of pregnancy with symptoms and signs of hypercortisolism, where ACTH-independent Cushing's syndrome was diagnosed and treated by robotic laparoscopic adrenalectomy at the 21th week of gestation.

  1. Peeling skin syndrome.

    PubMed

    Ilknur, Turna; Demirtaşoğlu, Melda; Akarsu, Sevgi; Lebe, Banu; Güneş, Ali Tahsin; Ozkan, Sebnem

    2006-01-01

    Peeling skin syndrome is a rare disease characterized by widespread painless peeling of the skin. To date, several cases have been described with different clinical features called peeling skin syndrome. Previous reports describe two types (type A and type B) of peeling skin syndrome, both of which show generalized desquamation, sparing palms and soles. We report a 23-year old man who has been classified as neither type A nor type B, and whose history, clinical features and histopathological findings led to a diagnosis of peeling skin syndrome. In addition, the desquamation pattern in our patient was different from that of both types because our case's palms and soles were involved too.

  2. The Disuse Syndrome

    PubMed Central

    Bortz II, Walter M.

    1984-01-01

    Our cultural sedentariness, recently acquired, lies at the base of much human ill-being. Physical inactivity predictably leads to deterioration of many body functions. A number of these effects coexist so frequently in our society that they merit inclusion in a specific syndrome, the disuse syndrome. The identifying characteristics of the syndrome are cardiovascular vulnerability, obesity, musculoskeletal fragility, depression and premature aging. The syndrome is experimentally reproducible and, significantly, the clinical features are subject to both preventive and restitutive efforts that happily are cheap, safe, accessible and effective. PMID:6516349

  3. Paraneoplastic neurological syndromes

    PubMed Central

    Leypoldt, F; Wandinger, K-P

    2014-01-01

    Paraneoplastic neurological syndromes are immune-mediated erroneous attacks on the central or peripheral nervous systems, or both, directed originally against the tumour itself. They have been known for more than 40 years, but recently the discovery of new subgroups of paraneoplastic encephalitis syndromes with a remarkably good response to immune therapy has ignited new clinical and scientific interest. Knowledge of these subgroups and their associated autoantibodies is important in therapeutic decision-making. However, the abundance of new autoantibodies and syndromes can be confusing. This review paper summarizes current knowledge and new developments in the field of paraneoplastic neurological syndromes, their classification, pathophysiology and treatment. PMID:23937626

  4. Genetics Home Reference: otopalatodigital syndrome type 2

    MedlinePlus

    ... Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type II Other Diagnosis and Management Resources ( ... syndrome FPO OPD syndrome, type 2 oto-palato-digital syndrome, type II Taybi syndrome Related Information How ...

  5. Genetics Home Reference: otopalatodigital syndrome type 1

    MedlinePlus

    ... Testing (1 link) Genetic Testing Registry: Oto-palato-digital syndrome, type I Other Diagnosis and Management Resources ( ... syndrome FPO OPD syndrome, type 1 oto-palato-digital syndrome, type I Taybi syndrome Related Information How ...

  6. CT findings of acute cholecystitis and its complications.

    PubMed

    Shakespear, Jonathan S; Shaaban, Akram M; Rezvani, Maryam

    2010-06-01

    The purpose of this article is to describe and illustrate the CT findings of acute cholecystitis and its complications. CT findings suggesting acute cholecystitis should be interpreted with caution and should probably serve as justification for further investigation with abdominal ultrasound. CT has a relatively high negative predictive value, and acute cholecystitis is unlikely in the setting of a negative CT. Complications of acute cholecystitis have a characteristic CT appearance and include necrosis, perforation, abscess formation, intraluminal hemorrhage, and wall emphysema.

  7. [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.

  8. 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

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. 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.

  14. Polycystic ovary syndrome and metabolic syndrome.

    PubMed

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  15. Bardet-Biedl syndrome and Usher syndrome.

    PubMed

    Koenig, Rainer

    2003-01-01

    Bardet-Biedl syndrome (BBS) and Usher syndrome (USH) are the most prevalent syndromic forms of retinitis pigmentosa (RP), together they make up almost a quarter of the patients with RP. BBS is defined by the association of retinopathy, obesity, hypogonadism, renal dysfunction, postaxial polydactyly and mental retardation. This clinically complex syndrome is genetically heterogeneous with linkage to more than 6 loci, and 4 genes have been cloned so far. Recent molecular data present evidence that, in some instances, the clinical manifestation of BBS requires recessive mutations in 1 of the 6 BBS loci plus one or two additional mutations in a second BBS locus (tri- or tetra-allelic inheritance). USH is characterized by the combination of congenital or early-onset sensorineural deafness, RP, and variable degrees of vestibular dysfunction. Each of the three clinical types is genetically heterogeneous: 7 loci have been mapped for type 1, three loci for type 2, and two loci for type 3. Currently, 6 USH genes (MYO7A, USH1C, CDH23, PCDH15, USH2A, USH3) have been identified. Pathogenetically, mutations of the USH1 genes seem to result in defects of auditory and retinal sensory cells, the USH 2 phenotype is caused by defects of extracellular matrix or cell surface receptor proteins, and USH3 may be due to synaptic disturbances. The considerable contribution of syndromic forms of RP requires interdisciplinary approaches to the clinical and diagnostic management of RP patients.

  16. 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.

  17. 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.

  18. Geriatric Sexuality Breakdown Syndrome.

    ERIC Educational Resources Information Center

    Kaas, Merrie Jean

    1981-01-01

    Focuses on the relationship between social environment and the older individual. By utilizing the Social Breakdown Syndrome a cycle of events is defined by the Geriatric Sexuality Breakdown Syndrome, in which an older individual is initially predisposed to diminished sexual activity to the end point of self-identification as nonsexual. (Author)

  19. The Othello Syndrome

    PubMed Central

    Famuyiwa, Oluwole O.; Ekpo, Micheal

    1983-01-01

    A case of the Othello syndrome is presented. In its classical form the syndrome is rare, but as with other allied paranoid states, its medicosocial implications are great. Rational management should include pharmacotherapy, conjoint family therapy after symptom remission, and long-term individual psychotherapy. PMID:6827614

  20. Sjogren's Syndrome Information Page

    MedlinePlus

    ... are here Home » Disorders » All Disorders Sjögren's Syndrome Information Page Sjögren's Syndrome Information Page What research is being done? The goals ... the U.S. and Worldwide NINDS Clinical Trials Related Information Patient Organizations Arthritis Foundation National Eye Institute (NEI) ...

  1. Streptococcal Toxic Shock syndrome.

    PubMed

    Krishna, Vidya; Sankaranarayan, Shuba; Sivaraman, Rajakumar Padur; Prabaharan, Krithika

    2014-09-01

    Streptococcal Toxic Shock syndrome (STSS) is a serious complication caused by exotoxins of Group A Streptococcus (GAS). It presents with fulminant shock and rash, is rapidly progressive with Multi-Organ Dysfunction Syndrome (MODS) and requires aggressive therapy with fluids, antibiotics and source control.

  2. Munchausen Syndrome by Proxy

    PubMed Central

    Yaacob, B.M.J

    1999-01-01

    Munchausen syndrome by proxy is a rare disorder in child psychiatric practice. A case of Munchausen syndrome by proxy that was managed in the Child Psychiatric clinic, Universiti Sains Malaysia Hospital is reported. Factors that suggest the diagnosis are discussed. Multidisciplinary approach to the management of such cases is warranted. PMID:22589687

  3. Cushing Syndrome: Other FAQs

    MedlinePlus

    ... N., & Hofeldt, F. D. (1990). Cushing’s syndrome in pregnancy. Obstetrical & Gynecological Survey, 45 (2), 87-93. PMID 2405312 . Lindsay, J. R., Jonklaas, J., Oldfield, E. H., & Nieman, L. K. (2005). Cushing’s syndrome during pregnancy: Personal experience and review of the literature. Journal ...

  4. Complex Regional Pain Syndrome

    MedlinePlus

    ... Other major and minor traumas — such as surgery, heart attacks, infections and even sprained ankles — can also lead to complex regional pain syndrome. It's not well-understood why these injuries can trigger complex regional pain syndrome. Not everyone who has ...

  5. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  6. Macrocytosis in Down Syndrome.

    ERIC Educational Resources Information Center

    Wachtel, Tom J.; Pueschel, Siegfried M.

    1991-01-01

    The study, with 61 Down Syndrome (trisomy 21) adult subjects, found that macrocytosis in the absence of anemia was virtually universal and erythrocyte survival half-time was shorter than normal. Findings suggest that erythrocytes have a younger mean age in persons with Down Syndrome, possibly indicating an accelerated aging process of red blood…

  7. Symbrachydactyly in Turner's syndrome.

    PubMed

    De Smet, L; Fryns, J P

    1995-01-01

    In the report we describe the occurrence of symbrachydactyly of the right hand in an adult female with Turner syndrome and classical 45,X karyotype. Symbrachydactyly is a unilateral and sporadic hand malformation. The pathogenesis may be part of an arterial vascular disruption sequence, possibly secondary to fetal oedema which is an important and frequent symptom in the prenatal development of Turner syndrome foetusses.

  8. Beckwith-Wiedemann syndrome

    MedlinePlus

    ... most common tumors in children with this syndrome. Causes Beckwith-Wiedemann syndrome is caused by a defect ... Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine . 10th ed. ... MA. Hypoglycemia. In: Kliegman RM, Stanton BF, St. Geme JW, ...

  9. Second-Impact Syndrome

    ERIC Educational Resources Information Center

    Cobb, Sarah; Battin, Barbara

    2004-01-01

    Sports-related injuries are among the more common causes of injury in adolescents that can result in concussion and its sequelae, postconcussion syndrome and second-impact syndrome (SIS). Students who experience multiple brain injuries within a short period of time (hours, days, or weeks) may suffer catastrophic or fatal reactions related to SIS.…

  10. Shaken Baby Syndrome

    MedlinePlus

    ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse × What research is being done? The National ... baby syndrome. Information from the National Library of Medicine’s MedlinePlus Child Abuse See More About Research The National Institute ...

  11. What Causes Rett Syndrome?

    MedlinePlus

    ... early-onset seizure variant of Rett syndrome. Human Molecular Genetics , Jul 15;14(14), 1935–1946. Retrieved June ... Dragich, J., & Schanen, C. (2003). Rett Syndrome: Clinical-Molecular Correlates. In G. Fisch (Ed.), Genetics and neurobehavioral disorders (pp. 391–418). Totowa, NJ: ...

  12. Epidemiology of Down Syndrome

    ERIC Educational Resources Information Center

    Sherman, Stephanie L.; Allen, Emily G.; Bean, Lora H.; Freeman, Sallie B.

    2007-01-01

    Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical conditions. Traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. DS has been estimated to occur…

  13. Phaeochromocytoma presenting as an acute coronary syndrome.

    PubMed

    Imam, Towhid; Finny, Philip; Choo-Kang, Alan; Khan, Rehman

    2016-10-26

    A 44-year-old Caucasian man presented to the emergency department in acute cardiogenic shock, with pulmonary oedema, secondary to an acute myocardial infarction and in a hyperosmolar hyperglycaemic state. The previous day he had undergone a colonoscopy, which revealed features of colitis, and was started on prednisolone. He had been previously diagnosed with type 2 diabetes, migraine and anxiety attacks. While awaiting a coronary angiogram he developed abdominal pain and a CT scan was performed and found a large right adrenal mass. Plasma-free metadrenaline levels were elevated. After 4 months, a right adrenalectomy was performed successfully. He made a good recovery with normalisation of his heart function and resolution of his diabetes. The diagnosis was delayed for years due to his episodic symptoms being attributed to other more common diagnoses. Although a rare diagnosis in itself, there are case reports of phaeochromocytoma initially presenting with an acute coronary syndrome. 2016 BMJ Publishing Group Ltd.

  14. 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…

  15. 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

  16. 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...

  17. Heterogeneity in Waardenburg syndrome.

    PubMed Central

    Hageman, M J; Delleman, J W

    1977-01-01

    Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943

  18. Gorlin-goltz syndrome.

    PubMed

    Mehta, Dn; Raval, N; Patadiya, H; Tarsariya, V

    2014-03-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome.

  19. Gorlin-Goltz Syndrome

    PubMed Central

    Mehta, DN; Raval, N; Patadiya, H; Tarsariya, V

    2014-01-01

    The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome) is a rare autosomal dominant syndrome caused due to mutations in the patched gene found on chromosome arm 9 q. It shows high penetrance and variable expressivity; is characterized by basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. Until date, very few cases of GGS have been reported in India. Early diagnosis and treatment as well as genetic counseling are essential for this syndrome. A rare case report of a patient with characteristic features of GGS diagnosed at a rural dental college of Gujarat, India is presented here. This case report draws attention of the valuable role of dentist in diagnosis and early management of this syndrome. PMID:24761254

  20. Lumbar dorsal ramus syndrome.

    PubMed

    Bogduk, N

    1980-11-15

    Low back pain, referred pain in the lower limbs, and spasm of the back, gluteal, and hamstring muscles are clinical features which can be induced in normal volunteers by stimulating structures which are innervated by the lumbar dorsal rami. Conversely, they can be relieved in certain patients by selective interruption of conduction along dorsal rami. These facts permit the definition of a lumbar dorsal ramus syndrome, which can be distinguished from the intervertebral disc syndrome and other forms of low back pain. The distinguishing feature is that, in lumbar dorsal ramus syndrome, all the clinical features are exclusively mediated by dorsal rami and do not arise from nerve-root compression. The pathophysiology, pathology, and treatment of this syndrome are described. Recognition of this syndrome, and its treatment with relatively minor procedures, can obviate the need for major surgery which might otherwise be undertaken.