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Sample records for complete congenital stationary

  1. Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

    PubMed

    Tan, Xue; Aoki, Aya; Yanagi, Yasuo

    2013-01-01

    Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

  2. Assessing Retinal Structure In Complete Congenital Stationary Night Blindness and Oguchi Disease

    PubMed Central

    Godara, Pooja; Cooper, Robert F.; Sergouniotis, Panagiotis I.; Diederichs, Melissa A.; Streb, Megan R.; Genead, Mohamed A.; McAnany, J. Jason; Webster, Andrew R.; Moore, Anthony T.; Dubis, Adam M.; Neitz, Maureen; Dubra, Alfredo; Stone, Edwin M.; Fishman, Gerald A.; Han, Dennis P.; Michaelides, Michel; Carroll, Joseph

    2012-01-01

    PURPOSE To examine retinal structure and changes in photoreceptor intensity post-dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease. DESIGN Prospective observational case series. METHODS We recruited three patients with complete congenital stationary night blindness caused by mutations in GRM6, two brothers with Oguchi disease caused by mutations in GRK1, and one normal control. Retinal thickness was measured from optical coherence tomography (OCT) images. Integrity of the rod and cone mosaic was assessed using adaptive optics scanning light ophthalmoscopy. We imaged five of the patients following a period of dark adaptation, and examined layer reflectivity on OCT in a patient with Oguchi disease under light- and dark-adapted conditions. RESULTS Retinal thickness was reduced in the parafoveal region in patients with GRM6 mutations, as a result of decreased thickness of the inner retinal layers. All patients had normal photoreceptor density at all locations analyzed. Upon removal from dark adaptation, the intensity of the rods (but not cones) in the patients with Oguchi disease gradually and significantly increased. In one Oguchi patient, the outer segment layer contrast on OCT was fourfold higher under dark-adapted versus light-adapted conditions. CONCLUSIONS The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar/ganglion cell numbers or altered synaptic structure in the inner retina. Our finding that rods, but not cones, change intensity after dark adaptation suggests that fundus changes in Oguchi disease are due to changes within the rods as opposed to changes at a different retinal locus. PMID:22959359

  3. Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.

    PubMed

    Malaichamy, Sivasankar; Sen, Parveen; Sachidanandam, Ramya; Arokiasamy, Tharigopala; Lancelot, Marie Elise; Audo, Isabelle; Zeitz, Christina; Soumittra, Nagasamy

    2014-01-01

    Congenital stationary night blindness (CSNB) is a non-progressive retinal disorder that shows genetic and clinical heterogeneity. CSNB is inherited as an autosomal recessive, autosomal dominant, or X-linked recessive trait and shows a good genotype-phenotype correlation. Clinically, CSNB is classified as the Riggs type and the Schubert-Bornschein type. The latter form is further sub-classified into complete and incomplete forms based on specific waveforms on the electroretinogram (ERG). There are no molecular genetic data for CSNB in the Indian population. Therefore, we present for the first time molecular profiling of eight families with complete CSNB (cCSNB). The index patients and their other affected family members were comprehensively evaluated for the phenotype, including complete ophthalmic evaluation, ERG, fundus autofluorescence, optical coherence tomography, and color vision test. The known gene defects for cCSNB, LRIT3, TRPM1, GRM6, GPR179, and NYX, were screened by PCR direct sequencing. Bioinformatic analyses were performed using SIFT and PolyPhen for the identified missense mutations. All eight affected index patients and affected family members were identified as having cCSNB based on their ERG waveforms. Mutations in the TRPM1 gene were identified in six index patients. The two remaining index patients each carried a GPR179 and GRM6 mutation. Seven of the patients revealed homozygous mutations, while one patient showed a compound heterozygous mutation. Six of the eight mutations identified are novel. This is the first report on molecular profiling of candidate genes in CSNB in an Indian cohort. As shown for other cohorts, TRPM1 seems to be a major gene defect in patients with cCSNB in India.

  4. Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).

    PubMed

    Neuillé, Marion; El Shamieh, Said; Orhan, Elise; Michiels, Christelle; Antonio, Aline; Lancelot, Marie-Elise; Condroyer, Christel; Bujakowska, Kinga; Poch, Olivier; Sahel, José-Alain; Audo, Isabelle; Zeitz, Christina

    2014-01-01

    Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knock-out mouse, a model to study the function and the pathogenic mechanism of LRIT3. We confirm that the insertion of a Bgeo/Puro cassette in the knock-out allele introduces a premature stop codon, which presumably codes for a non-functional protein. The mouse line does not harbor other mutations present in common laboratory mouse strains or in other known cCSNB genes. Lrit3 mutant mice exhibit a so-called no b-wave (nob) phenotype with lacking or severely reduced b-wave amplitudes in the scotopic and photopic electroretinogram (ERG), respectively. Optomotor tests reveal strongly decreased optomotor responses in scotopic conditions. No obvious fundus auto-fluorescence or histological retinal structure abnormalities are observed. However, spectral domain optical coherence tomography (SD-OCT) reveals thinned inner nuclear layer and part of the retina containing inner plexiform layer, ganglion cell layer and nerve fiber layer in these mice. To our knowledge, this is the first time that SD-OCT technology is used to characterize an animal model for CSNB. This phenotype is noted at 6 weeks and at 6 months. The stationary nob phenotype of mice lacking Lrit3, which we named nob6, confirms the findings previously reported in patients carrying LRIT3 mutations and is similar to other cCSNB mouse models. This novel mouse model will be useful for investigating the pathogenic mechanism(s) associated with LRIT3 mutations and clarifying the role of LRIT3 in the ON-bipolar cell signaling cascade.

  5. Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

    PubMed

    Zeitz, Christina; Jacobson, Samuel G; Hamel, Christian P; Bujakowska, Kinga; Neuillé, Marion; Orhan, Elise; Zanlonghi, Xavier; Lancelot, Marie-Elise; Michiels, Christelle; Schwartz, Sharon B; Bocquet, Béatrice; Antonio, Aline; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Luu, Tien D; Sennlaub, Florian; Nguyen, Hoan; Poch, Olivier; Dollfus, Hélène; Lecompte, Odile; Kohl, Susanne; Sahel, José-Alain; Bhattacharya, Shomi S; Audo, Isabelle

    2013-01-10

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. Individuals with cCSNB have visual impairment under low-light conditions and show a characteristic electroretinogram (ERG). The b-wave amplitude is severely reduced in the dark-adapted state of the ERG, representing abnormal function of ON bipolar cells. Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform. The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far. Whole-exome sequencing in one simplex cCSNB case lacking mutations in the known genes led to the identification of a missense mutation (c.983G>A [p.Cys328Tyr]) and a nonsense mutation (c.1318C>T [p.Arg440(∗)]) in LRIT3, encoding leucine-rich-repeat (LRR), immunoglobulin-like, and transmembrane-domain 3 (LRIT3). Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384(∗)]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs(∗)59]) in the same gene. Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB. The exact role of this LRR protein in cCSNB remains to be elucidated.

  6. Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness

    PubMed Central

    Zeitz, Christina; Jacobson, Samuel G.; Hamel, Christian P.; Bujakowska, Kinga; Neuillé, Marion; Orhan, Elise; Zanlonghi, Xavier; Lancelot, Marie-Elise; Michiels, Christelle; Schwartz, Sharon B.; Bocquet, Béatrice; Antonio, Aline; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Luu, Tien D.; Sennlaub, Florian; Nguyen, Hoan; Poch, Olivier; Dollfus, Hélène; Lecompte, Odile; Kohl, Susanne; Sahel, José-Alain; Bhattacharya, Shomi S.; Audo, Isabelle

    2013-01-01

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder. Two forms can be distinguished clinically: complete CSNB (cCSNB) and incomplete CSNB. Individuals with cCSNB have visual impairment under low-light conditions and show a characteristic electroretinogram (ERG). The b-wave amplitude is severely reduced in the dark-adapted state of the ERG, representing abnormal function of ON bipolar cells. Furthermore, individuals with cCSNB can show other ocular features such as nystagmus, myopia, and strabismus and can have reduced visual acuity and abnormalities of the cone ERG waveform. The mode of inheritance of this form can be X-linked or autosomal recessive, and the dysfunction of four genes (NYX, GRM6, TRPM1, and GPR179) has been described so far. Whole-exome sequencing in one simplex cCSNB case lacking mutations in the known genes led to the identification of a missense mutation (c.983G>A [p.Cys328Tyr]) and a nonsense mutation (c.1318C>T [p.Arg440∗]) in LRIT3, encoding leucine-rich-repeat (LRR), immunoglobulin-like, and transmembrane-domain 3 (LRIT3). Subsequent Sanger sequencing of 89 individuals with CSNB identified another cCSNB case harboring a nonsense mutation (c.1151C>G [p.Ser384∗]) and a deletion predicted to lead to a premature stop codon (c.1538_1539del [p.Ser513Cysfs∗59]) in the same gene. Human LRIT3 antibody staining revealed in the outer plexiform layer of the human retina a punctate-labeling pattern resembling the dendritic tips of bipolar cells; similar patterns have been observed for other proteins implicated in cCSNB. The exact role of this LRR protein in cCSNB remains to be elucidated. PMID:23246293

  7. Congenital complete heart block.

    PubMed Central

    Agarwala, B.; Sheikh, Z.; Cibils, L. A.

    1996-01-01

    Congenital complete heart block in utero has become diagnosed more frequently with the clinical use of fetal echocardiography. The fetus with complete heart block may remain asymptomatic or may develop congestive heart failure. Congenital complete heart block is more frequently seen in infants of mothers with systemic lupus erythematosus, both clinically manifested and subclinical systemic lupus erythematosus with positive antibodies (SS-A and SS-B antibodies). At birth, the neonate with complete heart block may remain asymptomatic and may not require a pacemaker to increase the heart rate. The indications for a pacemaker in neonates with complete heart block have been discussed. Both in-utero and neonatal management of congenital complete heart block are discussed to manage congestive heart failure in a fetus. Four patients with congenital complete heart block are presented covering a broad spectrum of clinical presentation, diagnosis, and management both in the fetal and neonatal period. Images Figure 1 PMID:8961692

  8. Genetics Home Reference: autosomal dominant congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  9. Genetics Home Reference: autosomal recessive congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness autosomal recessive congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is ...

  10. Genetics Home Reference: X-linked congenital stationary night blindness

    MedlinePlus

    ... stationary night blindness X-linked congenital stationary night blindness Printable PDF Open All Close All Enable Javascript ... collapse boxes. Description X-linked congenital stationary night blindness is a disorder of the retina , which is ...

  11. Congenital stationary night blindness presenting as Leber's congenital amaurosis.

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

    Two siblings with autosomal-recessive congenital stationary night blindness were clinically blind in infancy. Both had markedly abnormal electroretinograms that, in the first child, led consultants at two university centers to make the diagnosis of Leber's congenital amaurosis. The patients had intermittent nystagmus and esotropia, but good photopic vision developed eventually. Scotopic vision was clearly defective in each child. Refractive error in both patients was close to emetropic in early infancy but became myopic by 1 year of age. Congenital stationary night blindness must be considered in the differential diagnosis of the blind infant.

  12. Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness

    PubMed Central

    Zhou, Lin; Li, Tuo; Xing, Yi-Qiao; Li, Yin; Wu, Qing-Song; Zhang, Mao-Ju

    2016-01-01

    AIM To investigate the relationship between high myopia [with or without complete congenital stationary night blindness (CSNB1)] and TRPM1 and NYX. METHODS Two unrelated families with early-onset high myopia (eoHM) and 96 normal controls were recruited. Sanger sequencing or clone sequencing were used for mutation screening. Further analyses of the available family members and the 96 normal controls were subsequently conducted to obtain additional evidence of the pathogenicity of these variants. The initial diagnosis of the probands was eoHM. We performed a further comprehensive examination of the available family members after mutations were detected in TRPM1 or NYX. RESULTS Two novel compound heterozygous mutations in TRPM1 were detected in the recruited families. The proband in family A with eoHM carried a c.2594C>T missense mutation in exon 19 and a c.669+3_669+6delAAGT splicing mutation, which was co-segregated with CSNB1 in this family. A patient in family B with a compound heterozygous missense mutation (c.3262G>A and c.3250T>C) was detected. No mutations were found in NYX. These two identified compound heterozygous mutations were not found in the 96 normal controls. After further examination of the family members, the patients in family A could be diagnosed as eoHM with CSNB1. However due to the limited clinic data, the patient in family B cloud not clearly diagnosed as CSNB1. CONCLUSION This study has expanded the mutation spectrum of TRPM1 for CSNB1 and additional studies are needed to elucidate the association between isolated high myopia and TRPM1 and NYX. PMID:27803854

  13. Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.

    PubMed

    Scalabrino, Miranda L; Boye, Sanford L; Fransen, Kathryn M H; Noel, Jennifer M; Dyka, Frank M; Min, Seok Hong; Ruan, Qing; De Leeuw, Charles N; Simpson, Elizabeth M; Gregg, Ronald G; McCall, Maureen A; Peachey, Neal S; Boye, Shannon E

    2015-11-01

    Adeno-associated virus (AAV) effectively targets therapeutic genes to photoreceptors, pigment epithelia, Müller glia and ganglion cells of the retina. To date, no one has shown the ability to correct, with gene replacement, an inherent defect in bipolar cells (BCs), the excitatory interneurons of the retina. Targeting BCs with gene replacement has been difficult primarily due to the relative inaccessibility of BCs to standard AAV vectors. This approach would be useful for restoration of vision in patients with complete congenital stationary night blindness (CSNB1), where signaling through the ON BCs is eliminated due to mutations in their G-protein-coupled cascade genes. For example, the majority of CSNB1 patients carry a mutation in nyctalopin (NYX), which encodes a protein essential for proper localization of the TRPM1 cation channel required for ON BC light-evoked depolarization. As a group, CSNB1 patients have a normal electroretinogram (ERG) a-wave, indicative of photoreceptor function, but lack a b-wave due to defects in ON BC signaling. Despite retinal dysfunction, the retinas of CSNB1 patients do not degenerate. The Nyx(nob) mouse model of CSNB1 faithfully mimics this phenotype. Here, we show that intravitreally injected, rationally designed AAV2(quadY-F+T-V) containing a novel 'Ple155' promoter drives either GFP or YFP_Nyx in postnatal Nyx(nob) mice. In treated Nyx(nob) retina, robust and targeted Nyx transgene expression in ON BCs partially restored the ERG b-wave and, at the cellular level, signaling in ON BCs. Our results support the potential for gene delivery to BCs and gene replacement therapy in human CSNB1.

  14. Completeness of inextensible electromagnetic trajectories in a stationary spacetime

    NASA Astrophysics Data System (ADS)

    de la Fuente, Daniel; Romero, Alfonso

    2017-07-01

    A new technique is introduced to study the completeness of inextensible electromagnetic trajectories in an n(≥ 2) -dimensional stationary spacetime. Sufficient conditions on an electromagnetic field on a stationary spacetime are imposed to ensure that the associated (n + 1) -dimensional Kaluza-Klein bundle spacetime is itself stationary. The problem is then reduced to the geodesic completeness of the corresponding Kaluza-Klein bundle spacetime. Applications are given specially to the case of a standard static spacetime.

  15. [Oguchi disease or stationary congenital night blindness: a case report].

    PubMed

    Boissonnot, M; Robert, M F; Gilbert-Dussardier, B; Dighiero, P

    2007-01-01

    Oguchi disease, originally described in Japanese people, is a rare form of stationary night blindness in patients with normal acuity. We report the case of an 8-year-old girl who presented with an abnormal terrified behavior in the dark. Thorough questioning revealed hemeralopia. Her clinical examination (visual acuity, Goldmann visual field, and color vision) were normal. The fundus examination showed golden-brown color, grayish, almost greenish yellow discoloration in the peripheral area with no osteoclast. This abnormality disappeared after prolonged dark adaptation. The electroretinogram showed a reduced b wave amplitude under scotopic conditions. Her parents were cousins. This diagnosis should be suggested when hemeralopia is associated with typical fundus aspect resolving after dark adaptation (so called Mizuo-Nakamura phenomenon). The long-term prognosis in these patients is good in the absence of clinical progression. This is a genetic autosomal recessive disease caused by mutations in the gene coding for arrestin located in 2q37.1.

  16. Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

    PubMed Central

    Naeem, Muhammad Asif; Gottsch, Alexander D. H.; Ullah, Inayat; Khan, Shaheen N.; Husnain, Tayyab; Butt, Nadeem H.; Qazi, Zaheeruddin A.; Akram, Javed; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J. Fielding

    2015-01-01

    Purpose This study was undertaken to investigate the causal mutations responsible for autosomal recessive congenital stationary night blindness (CSNB) in consanguineous Pakistani families. Methods Two consanguineous families with multiple individuals manifesting symptoms of stationary night blindness were recruited. Affected individuals underwent a detailed ophthalmological examination, including fundus examination and electroretinography. Blood samples were collected and genomic DNA was extracted. Exclusion analyses were completed by genotyping closely spaced microsatellite markers, and two-point logarithm of odds (LOD) scores were calculated. All coding exons, along with the exon–intron boundaries of GRM6, were sequenced bidirectionally. Results According to the medical history available to us, affected individuals in both families had experienced night blindness from the early years of their lives. Fundus photographs of affected individuals in both the families appeared normal, with no signs of attenuated arteries or bone spicule pigmentation. The scotopic electroretinogram (ERG) response were absent in all of the affected individuals, while the photopic measurements show reduced b-waves. During exclusion analyses, both families localized to a region on chromosome 5q that harbors GRM6, a gene previously associated with autosomal recessive CSNB. Bidirectional sequencing of GRM6 identified homozygous single base pair changes, specifically c.1336C>T (p.R446X) and c.2267G>A (p.G756D) in families PKRP170 and PKRP172, respectively. Conclusions We identified a novel nonsense and a previously reported missense mutation in GRM6 that were responsible for autosomal recessive CSNB in patients of Pakistani decent. PMID:26628857

  17. Congenital stationary night blindness in a Thoroughbred and a Paso Fino.

    PubMed

    Nunnery, Catherine; Pickett, J Phillip; Zimmerman, Kurt L

    2005-01-01

    This report documents congenital stationary night blindness (CSNB) in two non-Appaloosa horse breeds (Thoroughbred and Paso Fino). History of vision impairment since birth, normal ocular structures on ophthalmic examination, and electroretinographic findings were consistent with CSNB. In one horse (Thoroughbred), a 9-year follow-up was carried out. In the Paso Fino, severe vision impairment from birth to approximately 1 year of age in both dim and bright light situations led to humane euthanasia and histopathologic confirmation of the disorder.

  18. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.

    PubMed

    Lodha, N; Bonfield, S; Orton, N C; Doering, C J; McRory, J E; Mema, S C; Rehak, R; Sauvé, Y; Tobias, R; Stell, W K; Bech-Hansen, N T

    2010-01-01

    Mutations in CACNA1F, which encodes the Ca(v)1.4 subunit of a voltage-gated L-type calcium channel, cause X-linked incomplete congenital stationary night blindness (CSNB2), a condition of defective retinal neurotransmission which results in night blindness, reduced visual acuity, and diminished ERG b-wave. We have characterized two putative murine CSNB2 models: an engineered null-mutant, with a stop codon (G305X); and a spontaneous mutant with an ETn insertion in intron 2 of Cacna1f (nob2). Cacna1f ( G305X ): Adults were characterized by visual function (photopic optokinetic response, OKR); gene expression (microarray) and by cell death (TUNEL) and synaptic development (TEM). Cacna1f ( nob2 ): Adults were characterized by properties of Cacna1f mRNA (cloning and sequencing) and expressed protein (immunoblotting, electrophysiology, filamin [cytoskeletal protein] binding), and OKR. The null mutation in Cacna1f ( G305X ) mice caused loss of cone cell ribbons, failure of OPL synaptogenesis, ERG b-wave and absence of OKR. In Cacna1f ( nob2 ) mice alternative ETn splicing produced ~90% Cacna1f mRNA having a stop codon, but ~10% mRNA encoding a complete polypeptide. Cacna1f ( nob2 ) mice had normal OKR, and alternatively-spliced complete protein had WT channel properties, but alternative ETn splicing abolished N-terminal protein binding to filamin. Ca(v)1.4 plays a key role in photoreceptor synaptogenesis and synaptic function in mouse retina. Cacna1f ( G305X ) is a true knockout model for human CSNB2, with prominent defects in cone and rod function. Cacna1f ( nob2 ) is an incomplete knockout model for CSNB2, because alternative splicing in an ETn element leads to some full-length Ca(v)1.4 protein, and some cones surviving to drive photopic visual responses.

  19. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness

    PubMed Central

    Kondo, Mineo; Das, Gautami; Imai, Ryoetsu; Santana, Evelyn; Nakashita, Tomio; Imawaka, Miho; Ueda, Kosuke; Ohtsuka, Hirohiko; Sakai, Kazuhiko; Aihara, Takehiro; Kato, Kumiko; Sugimoto, Masahiko; Ueno, Shinji; Nishizawa, Yuji; Aguirre, Gustavo D.; Miyadera, Keiko

    2015-01-01

    Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had “negative-type” mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location. Among the genes expressed in the photoreceptors and their synaptic terminals, and mGluR6 cascade and modulators, reduced expression of GNAT1, CACNA2D4 and NYX was observed by qRT-PCR in both carrier (n = 2) and affected (n = 2) retinas whereas CACNA1F was down-regulated only in the affecteds. Retinal morphology revealed normal cellular layers and structure, and electron microscopy showed normal rod spherules and synaptic ribbons. No difference from normal was observed by immunohistochemistry (IHC) for antibodies labeling rods, cones and their presynaptic terminals. None of the retinas showed any sign of stress. Selected proteins of mGluR6 cascade and its modulators were examined by IHC and showed that PKCα weakly labeled the rod bipolar somata in the affected, but intensely labeled axonal terminals that appeared thickened and irregular. Dendritic terminals of ON-bipolar cells showed increased Goα labeling. Both PKCα and Goα labeled the more prominent bipolar dendrites that extended into the OPL in affected but not normal retinas

  20. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

    PubMed

    Kondo, Mineo; Das, Gautami; Imai, Ryoetsu; Santana, Evelyn; Nakashita, Tomio; Imawaka, Miho; Ueda, Kosuke; Ohtsuka, Hirohiko; Sakai, Kazuhiko; Aihara, Takehiro; Kato, Kumiko; Sugimoto, Masahiko; Ueno, Shinji; Nishizawa, Yuji; Aguirre, Gustavo D; Miyadera, Keiko

    2015-01-01

    Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a naturally-occurring, stationary, autosomal recessive phenotype in beagle dogs with normal daylight vision but absent night vision. Affected dogs had normal retinas on clinical examination, but showed no detectable rod responses. They had "negative-type" mixed rod and cone responses in full-field ERGs. Their photopic long-flash ERGs had normal OFF-responses associated with severely reduced ON-responses. The phenotype is similar to the Schubert-Bornschein form of complete CSNB in humans. Homozygosity mapping ruled out most known CSNB candidates as well as CACNA2D4 and GNB3. Three remaining genes were excluded based on sequencing the open reading frame and intron-exon boundaries (RHO, NYX), causal to a different form of CSNB (RHO) or X-chromosome (NYX, CACNA1F) location. Among the genes expressed in the photoreceptors and their synaptic terminals, and mGluR6 cascade and modulators, reduced expression of GNAT1, CACNA2D4 and NYX was observed by qRT-PCR in both carrier (n = 2) and affected (n = 2) retinas whereas CACNA1F was down-regulated only in the affecteds. Retinal morphology revealed normal cellular layers and structure, and electron microscopy showed normal rod spherules and synaptic ribbons. No difference from normal was observed by immunohistochemistry (IHC) for antibodies labeling rods, cones and their presynaptic terminals. None of the retinas showed any sign of stress. Selected proteins of mGluR6 cascade and its modulators were examined by IHC and showed that PKCα weakly labeled the rod bipolar somata in the affected, but intensely labeled axonal terminals that appeared thickened and irregular. Dendritic terminals of ON-bipolar cells showed increased Goα labeling. Both PKCα and Goα labeled the more prominent bipolar dendrites that extended into the OPL in affected but not normal retinas. Interestingly

  1. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse.

    PubMed

    Sandmeyer, Lynne S; Bellone, Rebecca R; Archer, Sheila; Bauer, Bianca S; Nelson, Janelle; Forsyth, George; Grahn, Bruce H

    2012-01-01

      To determine if congenital stationary night blindness (CSNB) exists in the Miniature Horse in association with leopard complex spotting patterns (LP), and to investigate if CSNB in the Miniature Horse is associated with three single nucleotide polymorphisms (SNPs) in the region of TRPM1 that are highly associated with CSNB and LP in Appaloosas.   Three groups of Miniature Horses were studied based on coat patterns suggestive of LP/LP (n=3), LP/lp (n=4), and lp/lp genotype (n=4).   Horses were categorized based on phenotype as well as pedigree analysis as LP/LP, LP/lp, and lp/lp. Neurophthalmic examination, slit-lamp biomicroscopy, indirect ophthalmoscopy, and scotopic flash electroretinography were performed on all horses. Hair samples were processed for DNA analysis. Three SNPs identified and associated with LP and CSNB in the Appaloosa were investigated for association with LP and CSNB in these Miniature Horses.   All horses in the LP/LP group were affected by CSNB, while none in the LP/lp or lp/lp groups were affected. All three SNPs were completely associated with LP genotype (χ(2) = 22, P < 0.0005) and CSNB status (χ(2) =11, P<0.0005).   The Miniature Horse breed is affected by CSNB and it appears to be associated with LP as in the Appaloosa breed. The SNPs tested could be used as a DNA test for CSNB until the causative mutation is determined. © 2011 American College of Veterinary Ophthalmologists.

  2. Congenital complete heart block in Klippel-Feil syndrome.

    PubMed

    Elumalai, Raja Saravanan; Nainar, Madhu Sankar; Vaidyanathan, Kirthivasan; Somasundaram, Ganesh; Balasubramaniam, Govini

    2013-04-01

    A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2-C6 vertebral bodies, Electrocardiography indicated complete heart block. Ultrasonography showed a right pelvic kidney. He was diagnosed with Klippel-Feil syndrome and underwent permanent pacemaker implantation and corrective surgery for the congenital diaphragmatic hernia.

  3. Structural, Energetic, and Mechanical Perturbations in Rhodopsin Mutant That Causes Congenital Stationary Night Blindness*

    PubMed Central

    Kawamura, Shiho; Colozo, Alejandro T.; Ge, Lin; Müller, Daniel J.; Park, Paul S.-H.

    2012-01-01

    Several point mutations in rhodopsin cause retinal diseases including congenital stationary night blindness and retinitis pigmentosa. The mechanism by which a single amino acid residue substitution leads to dysfunction is poorly understood at the molecular level. A G90D point mutation in rhodopsin causes constitutive activity and leads to congenital stationary night blindness. It is unclear which perturbations the mutation introduces and how they can cause the receptor to be constitutively active. To reveal insight into these mechanisms, we characterized the perturbations introduced into dark state G90D rhodopsin from a transgenic mouse model expressing exclusively the mutant rhodopsin in rod photoreceptor cells. UV-visible absorbance spectroscopy revealed hydroxylamine accessibility to the chromophore-binding pocket of dark state G90D rhodopsin, which is not detected in dark state wild-type rhodopsin but is detected in light-activated wild-type rhodopsin. Single-molecule force spectroscopy suggested that the structural changes introduced by the mutation are small. Dynamic single-molecule force spectroscopy revealed that, compared with dark state wild-type rhodopsin, the G90D mutation decreased energetic stability and increased mechanical rigidity of most structural regions in the dark state mutant receptor. The observed structural, energetic, and mechanical changes in dark state G90D rhodopsin provide insights into the nature of perturbations caused by a pathological point mutation. Moreover, these changed properties observed for dark state G90D rhodopsin are consistent with properties expected for an active state. PMID:22549882

  4. Complete congenital heart block in a neonate with a complex congenital heart defect in Africa

    PubMed Central

    Wawo, Edvine Yonta; Mfeukeu, Liliane Kuate; Makamte, Larissa; Edie, Sandrine Dikosso; Balana, Flore Esiene

    2016-01-01

    Congenital heart block (CHB) is rare disorder that has a higher mortality when associated with structural congenital heart defects. Very few cases have been reported in Sub-Saharan Africa (SSA). We present a case of complete CHB associated with a complex congenital heart defect in a neonate in Cameroon. A 1-month-old neonate in Cameroon was referred for the evaluation of bradycardia. The obstetrical ultrasound done during pregnancy revealed fetal bradycardia without further evaluation. Clinical examination showed well a developed neonate with bradycardia at 62 beats/minute, and mild cyanosis with oxygen saturation at 93% at room air. There were no signs of heart failure. Twelve lead electrocardiogram (ECG) demonstrated a complete atrioventricular conduction block with a junctional escape rhythm at 59/minute, left axis deviation and bi-ventricular hypertrophy. Two-dimensional echocardiography revealed a complex congenital heart disease with the following abnormalities: dextrocardia, complete atrioventricular canal with a single atrium and mild atrioventricular valve regurgitation and malposition of the great vessels with a posterior aorta and an anterior pulmonary artery. This case report highlights the challenges in the diagnosis and management of complex CHBs in low resource settings. A properly performed pregnancy follow-up with serial echocardiograms could aid in antenatal diagnosis and plan perinatal management when appropriate in order to optimize outcome. This emphasizes the clinical value of high quality antenatal care and proper screening. PMID:27904846

  5. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

    PubMed

    Bijveld, Mieke M C; Florijn, Ralph J; Bergen, Arthur A B; van den Born, L Ingeborgh; Kamermans, Maarten; Prick, Liesbeth; Riemslag, Frans C C; van Schooneveld, Mary J; Kappers, Astrid M L; van Genderen, Maria M

    2013-10-01

    To investigate the relative frequency of the genetic causes of the Schubert-Bornschein type of congenital stationary night blindness (CSNB) and to determine the genotype-phenotype correlations in CSNB1 and CSNB2. Clinic-based, longitudinal, multicenter study. A total of 39 patients with CSNB1 from 29 families and 62 patients with CSNB2 from 43 families. Patients underwent full ophthalmologic and electrophysiologic examinations. On the basis of standard electroretinograms (ERGs), patients were diagnosed with CSNB1 or CSNB2. Molecular analysis was performed by direct Sanger sequencing of the entire coding regions in NYX, TRPM1, GRM6, and GPR179 in patients with CSNB1 and CACNA1F and CABP4 in patients with CSNB2. Data included genetic cause of CSNB, refractive error, visual acuity, nystagmus, strabismus, night blindness, photophobia, color vision, dark adaptation (DA) curve, and standard ERGs. A diagnosis of CSNB1 or CSNB2 was based on standard ERGs. The photopic ERG was the most specific criterion to distinguish between CSNB1 and CSNB2 because it showed a "square-wave" appearance in CSNB1 and a decreased b-wave in CSNB2. Mutations causing CSNB1 were found in NYX (20 patients, 13 families), TRPM1 (10 patients, 9 families), GRM6 (4 patients, 3 families), and GPR179 (2 patients, 1 family). Congenital stationary night blindness 2 was primarily caused by mutations in CACNA1F (55 patients, 37 families). Only 3 patients had causative mutations in CABP4 (2 families). Patients with CSNB1 mainly had rod-related problems, and patients with CSNB2 had rod- and cone-related problems. The visual acuity on average was better in CSNB1 (0.30 logarithm of the minimum angle of resolution [logMAR]) than in CSNB2 (0.52 logMAR). All patients with CSNB1 and only 54% of the patients with CSNB2 reported night blindness. The dark-adapted threshold was on average more elevated in CSNB1 (3.0 log) than in CSNB2 (1.8 log). The 3 patients with CABP4 had a relative low visual acuity, were hyperopic

  6. [Neonatal lupus syndrome. Association with complete congenital atrioventricular block].

    PubMed

    Johansen, A S; Herlin, T

    1998-04-20

    Neonatal lupus erythematosus (NLE) is characterized by persistent congenital complete heart block, often without any other structural heart defects. Lupus-like dermatitis is seen transiently, more rarely hepatitis and thrombocytopenia occurs. Recent investigations have shown a close relation between NLE and maternal anti-Ro/La antibodies. These antibodies seem responsible for the destruction of the bundle of His and the AV node in the foetus. Total AV block is seen in 1:15.-22,000 of liveborn children, 70-90% of them are caused by NLE. It is difficult to identify the pregnancies at risk since at delivery most of the mothers (up to 66%) are without symptoms. If the mother has anti-Ro/La antibodies the risk for having a child with NLE is probably less than 5%. However, new investigations have shown that mothers who in addition have anti-DNA antibodies have significantly lower risk of bearing a child with NLE. In most cases foetal complete AV block is found accidentally during pregnancy. Slow foetal heart rate with the demonstration of AV dissociation should not, unless the foetus shows sign of incompensation, lead to acute delivery, but pregnancy should be monitored carefully by serial echocardiography. More than half of the children with congenital heart block need pacemaker therapy shortly after birth. The other children should be followed closely for signs of incompensation and may need pacemaker therapy later on.

  7. Congenital Complete Absence of Pericardium Masquerading as Pulmonary Embolism

    PubMed Central

    Tariq, Saad; Mahmood, Sultan; Madeira, Samuel; Tarasov, Ethan

    2013-01-01

    Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct

  8. Congenital complete and partial absence of the left pericardium.

    PubMed

    Jurko, Alexander; Minarik, Milan; Cisarikova, Viera; Polacek, Hubert; Schusterova, Ingrid

    2013-09-01

    Congenital absence of pericardium is a rare malformation. We report 2 young patients with a diagnosis of congenital absence of the pericardium. The posteroanterior view of the chest X-ray showed displacement of the left cardiac border into the left hemithorax. Unusual acoustical windows and abnormal cardiac and septal motion during echocardiography suggested the diagnosis of congenital absence of pericardium. Magnetic resonance imaging definitive confirmed diagnosis of congenital absence of pericardium.

  9. Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness.

    PubMed

    Cammack, Jocelyn; Whight, John; Cross, Vinette; Rider, Andrew T; Webster, Andrew R; Stockman, Andrew

    2016-01-01

    An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1) the development of navigational techniques that relied on light reflections and point sources of light and 2) a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular suitability of filmmaking techniques as a means of accessing and communicating subjective patient experience.

  10. Psychophysical measures of visual function and everyday perceptual experience in a case of congenital stationary night blindness

    PubMed Central

    Cammack, Jocelyn; Whight, John; Cross, Vinette; Rider, Andrew T; Webster, Andrew R; Stockman, Andrew

    2016-01-01

    An appreciation of the relation between laboratory measures of visual deficit and everyday perceptual experience is fundamental to understanding the impact of a visual condition on patients and so to a fuller characterization of the disorder. This study aims to understand better the interpretative processes by which modified sensory information is perceived by a patient with congenital stationary night blindness and the adaptive strategies that are devised to deal with their measurable visual loss. Psychophysical measurements of temporal resolution, spectral sensitivity, and color discrimination were conducted on a 78-year-old male patient with the condition, who was also interviewed at length about the ways in which his diagnosis affected his daily life. Narrative analysis was employed to identify the relation between his subjective perceptual experiences and functional deficits in identifiable components of the visual system. Psychophysical measurements indicated a complete lack of rod perception and substantially reduced cone sensitivity. Two particular effects of this visual loss emerged during interviews: 1) the development of navigational techniques that relied on light reflections and point sources of light and 2) a reluctance to disclose the extent of visual loss and resulting lifelong psychosocial consequences. This study demonstrates the valuable complementary role that rich descriptive patient testimony can play, in conjunction with laboratory and clinical measurements, in more fully characterizing a disorder and in reaching a more complete understanding of the experience of vision loss. It also evidences the particular suitability of filmmaking techniques as a means of accessing and communicating subjective patient experience. PMID:27601873

  11. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.

    PubMed

    Zeitz, Christina; Robson, Anthony G; Audo, Isabelle

    2015-03-01

    Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with more than 360 different mutations and more than 670 affected alleles have been associated with CSNB, including genes coding for proteins of the phototransduction cascade, those important for signal transmission from the photoreceptors to the bipolar cells or genes involved in retinoid recycling in the retinal pigment epithelium. This article describes the phenotypic characteristics of different forms of CSNB that are necessary for accurate diagnosis and to direct and improve genetic testing. An overview of classical and recent methods used to identify specific CSNB genotypes is provided and a meta-analysis of all previously published and novel data is performed to determine the prevalence of disease-causing mutations. Studies of the underlying molecular pathogenic mechanisms based on cell culture techniques and animal studies are outlined. The article highlights how the study of CSNB has increased understanding of the mechanisms of visual signalling in the retina, likely to prove important in developing future treatments for CSNB and other retinal disorders.

  12. A surprising content of congenital hernia: complete splenogonadal fusion band.

    PubMed

    Lakshmanan, Prakash Manikka; Reddy, Ajit Kumar; Nutakki, Aditya

    2014-03-26

    Splenogonadal fusion is a rare congenital anomaly. We present the case of a 6-year-old boy who presented with a left inguinoscrotal swelling. With a clinical diagnosis of left congenital inguinal hernia the patient was taken up for explorative laparotomy where a transperitoneal band was noted adherent to the left testis. Biopsy revealed normal splenic tissue. Postoperatively the boy was imaged and a diagnosis of splenogonadal fusion was made. This article illustrates the imaging features of this rare anomaly.

  13. A surprising content of congenital hernia: complete splenogonadal fusion band

    PubMed Central

    Lakshmanan, Prakash Manikka; Reddy, Ajit Kumar; Nutakki, Aditya

    2014-01-01

    Splenogonadal fusion is a rare congenital anomaly. We present the case of a 6-year-old boy who presented with a left inguinoscrotal swelling. With a clinical diagnosis of left congenital inguinal hernia the patient was taken up for explorative laparotomy where a transperitoneal band was noted adherent to the left testis. Biopsy revealed normal splenic tissue. Postoperatively the boy was imaged and a diagnosis of splenogonadal fusion was made. This article illustrates the imaging features of this rare anomaly. PMID:24671325

  14. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

    PubMed

    Vincent, Ajoy; Audo, Isabelle; Tavares, Erika; Maynes, Jason T; Tumber, Anupreet; Wright, Thomas; Li, Shuning; Michiels, Christelle; Condroyer, Christel; MacDonald, Heather; Verdet, Robert; Sahel, José-Alain; Hamel, Christian P; Zeitz, Christina; Héon, Elise

    2016-05-05

    Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339(∗)]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339(∗)]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling.

  15. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    PubMed Central

    Vincent, Ajoy; Audo, Isabelle; Tavares, Erika; Maynes, Jason T.; Tumber, Anupreet; Wright, Thomas; Li, Shuning; Michiels, Christelle; Banin, Eyal; Bocquet, Beatrice; De Baere, Elfride; Casteels, Ingele; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Friedburg, Christoph; Gottlob, Irene; Jacobson, Samuel G.; Kellner, Ulrich; Koenekoop, Robert; Kohl, Susanne; Leroy, Bart P.; Lorenz, Birgit; McLean, Rebecca; Meire, Francoise; Meunier, Isabelle; Munier, Francis; de Ravel, Thomy; Reiff, Charlotte M.; Mohand-Saïd, Saddek; Sharon, Dror; Schorderet, Daniel; Schwartz, Sharon; Zanlonghi, Xavier; Condroyer, Christel; MacDonald, Heather; Verdet, Robert; Sahel, José-Alain; Hamel, Christian P.; Zeitz, Christina; Héon, Elise

    2016-01-01

    Congenital stationary night blindness (CSNB) is a heterogeneous group of non-progressive inherited retinal disorders with characteristic electroretinogram (ERG) abnormalities. Riggs and Schubert-Bornschein are subtypes of CSNB and demonstrate distinct ERG features. Riggs CSNB demonstrates selective rod photoreceptor dysfunction and occurs due to mutations in genes encoding proteins involved in rod phototransduction cascade; night blindness is the only symptom and eye examination is otherwise normal. Schubert-Bornschein CSNB is a consequence of impaired signal transmission between the photoreceptors and bipolar cells. Schubert-Bornschein CSNB is subdivided into complete CSNB with an ON bipolar signaling defect and incomplete CSNB with both ON and OFF pathway involvement. Both subtypes are associated with variable degrees of night blindness or photophobia, reduced visual acuity, high myopia, and nystagmus. Whole-exome sequencing of a family screened negative for mutations in genes associated with CSNB identified biallelic mutations in the guanine nucleotide-binding protein subunit beta-3 gene (GNB3). Two siblings were compound heterozygous for a deletion (c.170_172delAGA [p.Lys57del]) and a nonsense mutation (c.1017G>A [p.Trp339∗]). The maternal aunt was homozygous for the nonsense mutation (c.1017G>A [p.Trp339∗]). Mutational analysis of GNB3 in a cohort of 58 subjects with CSNB identified a sporadic case individual with a homozygous GNB3 mutation (c.200C>T [p.Ser67Phe]). GNB3 encodes the β subunit of G protein heterotrimer (Gαβγ) and is known to modulate ON bipolar cell signaling and cone transducin function in mice. Affected human subjects showed an unusual CSNB phenotype with variable degrees of ON bipolar dysfunction and reduced cone sensitivity. This unique retinal disorder with dual anomaly in visual processing expands our knowledge about retinal signaling. PMID:27063057

  16. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.

    PubMed

    Chen, Royce W S; Greenberg, Jonathan P; Lazow, Margot A; Ramachandran, Rithu; Lima, Luiz H; Hwang, John C; Schubert, Carl; Braunstein, Alexandra; Allikmets, Rando; Tsang, Stephen H

    2012-01-01

    To test the hypothesis that the evaluation of retinal structure can have diagnostic value in differentiating between incomplete congenital stationary night blindness (CSNB2) and retinitis pigmentosa (RP). To compare retinal thickness differences between patients with CSNB2 and myopic controls. Prospective cross-sectional study. Ten eyes of 5 patients diagnosed with CSNB2 (4 X-linked recessive, 1 autosomal recessive) and 6 eyes of 3 patients with RP (2 autosomal dominant, 1 autosomal recessive) were evaluated with spectral-domain optical coherence tomography (SD OCT) and fundus autofluorescence (FAF). Diagnoses of CSNB2 and RP were confirmed by full-field electroretinography (ERG). Manual segmentation of retinal layers, aided by a computer program, was performed by 2 professional segmenters on SD OCT images of all CSNB2 patients and 4 age-similar, normal myopic controls. Seven patients were screened for mutations with congenital stationary night blindness and RP genotyping arrays. Patients with CSNB2 had specific findings on SD OCT and FAF that were distinct from those found in RP. CSNB2 patients showed qualitatively normal SD OCT results with preserved photoreceptor inner segment/outer segment junction, whereas this junction was lost in RP patients. In addition, CSNB2 patients had normal FAF images, whereas patients with RP demonstrated a ring of increased autofluorescence around the macula. On SD OCT segmentation, the inner and outer retinal layers of both X-linked recessive and autosomal recessive CSNB2 patients were thinner compared with those of normal myopic controls, with means generally outside of normal 95% confidence intervals. The only layers that demonstrated similar thickness between CSNB2 patients and the controls were the retinal nerve fiber layer and, temporal to the fovea, the combined outer segment layer and retinal pigment epithelium. A proband and his 2 affected brothers from a family segregating X-linked recessive CSNB2 had a mutation, p.R614X

  17. Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison with Retinitis Pigmentosa

    PubMed Central

    CHEN, ROYCE W. S.; GREENBERG, JONATHAN P.; LAZOW, MARGOT A.; RAMACHANDRAN, RITHU; LIMA, LUIZ H.; HWANG, JOHN C.; SCHUBERT, CARL; BRAUNSTEIN, ALEXANDRA; ALLIKMETS, RANDO; TSANG, STEPHEN H.

    2015-01-01

    PURPOSE To test the hypothesis that the evaluation of retinal structure can have diagnostic value in differentiating between incomplete congenital stationary night blindness (CSNB2) and retinitis pigmentosa (RP). To compare retinal thickness differences between patients with CSNB2 and myopic controls. DESIGN Prospective cross-sectional study. METHODS Ten eyes of 5 patients diagnosed with CSNB2 (4 X-linked recessive, 1 autosomal recessive) and 6 eyes of 3 patients with RP (2 autosomal dominant, 1 autosomal recessive) were evaluated with spectral-domain optical coherence tomography (SD OCT) and fundus autofluorescence (FAF). Diagnoses of CSNB2 and RP were confirmed by full-field electroretinography (ERG). Manual segmentation of retinal layers, aided by a computer program, was performed by 2 professional segmenters on SD OCT images of all CSNB2 patients and 4 age-similar, normal myopic controls. Seven patients were screened for mutations with congenital stationary night blindness and RP genotyping arrays. RESULTS Patients with CSNB2 had specific findings on SD OCT and FAF that were distinct from those found in RP. CSNB2 patients showed qualitatively normal SD OCT results with preserved photoreceptor inner segment/outer segment junction, whereas this junction was lost in RP patients. In addition, CSNB2 patients had normal FAF images, whereas patients with RP demonstrated a ring of increased autofluorescence around the macula. On SD OCT segmentation, the inner and outer retinal layers of both X-linked recessive and autosomal recessive CSNB2 patients were thinner compared with those of normal myopic controls, with means generally outside of normal 95% confidence intervals. The only layers that demonstrated similar thickness between CSNB2 patients and the controls were the retinal nerve fiber layer and, temporal to the fovea, the combined outer segment layer and retinal pigment epithelium. A proband and his 2 affected brothers from a family segregating X-linked recessive

  18. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.

    PubMed

    Naylor, M J; Rancourt, D E; Bech-Hansen, N T

    2000-06-15

    The mutant L-type calcium channel alpha(1)-subunit gene, CACNA1F, was recently identified as the gene responsible for incomplete X-linked congenital stationary night blindness. The 6070-bp mRNA transcript is predicted to encode a 1977-amino-acid pore-forming protein with cytoplasmic amino- and carboxyl-termini separated by four homologous repeat domains, each consisting of six transmembrane segments. CACNA1F has been shown to be preferentially expressed in the retina, indicative of a specific functional role in visual processing. We have established the complete sequence of the murine orthologue of CACNA1F, namely Cacna1f. The total length of the mRNA transcript of the murine gene was established to be 6080 bp with an open reading frame that translates into a 1985-amino-acid protein. Cacna1f is highly homologous to the human sequence, with 90% identity at the amino acid level and almost perfect conservation between the functional domains. Furthermore, as in the human gene, the 3' end of the Cacna1f gene maps within 5 kb of the 5' end of the mouse synaptophysin gene in a region orthologous to Xp11.23. Using in situ hybridization, Cacna1f was found to be expressed in the inner and outer nuclear layers and the ganglion cell layer of the retina.

  19. Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

    PubMed

    Huynh, Nancy; Jeffrey, Brett G; Turriff, Amy; Sieving, Paul A; Cukras, Catherine A

    2014-03-01

    Inherited retinal diseases are uncommon, and the likelihood of having more than one hereditary disorder is rare. Here, we report a case of Stargardt disease and congenital stationary night blindness (CSNB) in the same patient, and the identification of two novel in-frame deletions in the GRM6 gene. The patient underwent an ophthalmic exam and visual function testing including: visual acuity, color vision, Goldmann visual field, and electroretinography (ERG). Imaging of the retina included fundus photography, spectral-domain optical coherence tomography (OCT), and fundus autofluorescence. Genomic DNA was PCR-amplified for analysis of all coding exons and flanking splice sites of both the ABCA4 and GRM6 genes. A 46-year-old woman presented with recently reduced central vision and clinical findings of characteristic yellow flecks consistent with Stargardt disease. However, ERG testing revealed an ERG phenotype unusual for Stargardt disease but consistent with CSNB1. Genetic testing revealed two previously reported mutations in the ABCA4 gene and two novel deletions in the GRM6 gene. Diagnosis of concurrent Stargardt disease and CSNB was made on the ophthalmic history, clinical examination, ERG, and genetic testing. This case highlights that clinical tests need to be taken in context, and that co-existing retinal dystrophies and degenerations should be considered when clinical impressions and objective data do not correlate.

  20. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity

    SciTech Connect

    Bech-Hansen, N.T. Univ. of Calgary, Alberta ); Pearce, W.G. )

    1993-01-01

    X-linked congenital stationary night blindness (CSNB1) is a hereditary retinal disorder in which clinical features in affected males usually include myopia, nystagmus, and impaired visual acuity. Electroretinography demonstrates a marked reduction in b-wave amplitude. In the study of a large Mennonite family with CSNB1, three of five sisters in one sibship were found to have manifestations of CSNB1. All the sons of these three sisters were affected. Each of the two nonmanifesting sisters had at least one unaffected son. Analysis of Xp markers in the region Xp21.1-Xp11.22 showed that the two sisters who were unaffected had inherited the same maternal X chromosome (i.e., M2). Two of the daughters who manifested with CSNB had inherited the other maternal X chromosome (M1). The third manifesting sister inherited a recombinant X chromosome with a crossover between TIMP and DXS255, which suggests that the CSNB1 locus lies proximal to TIMP. One of the affected daughters' sons had inherited the maternal M1 X chromosome, a finding consistent with that chromosome carrying a mutant CSNB gene; the other affected sons inherited the grandfather's X chromosome (i.e., P). Molecular analysis of DNA from three sisters with manifestations of CSNB is consistent with their being homozygous at the CSNB1 locus and with their mother being a carrier of CSNB1. 23 refs., 4 figs., 3 tabs.

  1. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.

    PubMed

    Knoflach, Dagmar; Kerov, Vasily; Sartori, Simone B; Obermair, Gerald J; Schmuckermair, Claudia; Liu, Xiaoni; Sothilingam, Vithiyanjali; Garcia Garrido, Marina; Baker, Sheila A; Glösmann, Martin; Schicker, Klaus; Seeliger, Mathias; Lee, Amy; Koschak, Alexandra

    2013-01-01

    Mutations in the CACNA1F gene encoding the Cav1.4 Ca (2+) channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2). Despite the increasing knowledge about the functional behavior of mutated channels in heterologous systems, the pathophysiological mechanisms that result in vision impairment remain to be elucidated. This work provides a thorough functional characterization of the novel IT mouse line that harbors the gain-of-function mutation I745T reported in a New Zealand CSNB2 family. (1) Electroretinographic recordings in IT mice permitted a direct comparison with human data. Our data supported the hypothesis that a hyperpolarizing shift in the voltage-dependence of channel activation-as seen in the IT gain-of-function mutant (2)-may reduce the dynamic range of photoreceptor activity. Morphologically, the retinal outer nuclear layer in adult IT mutants was reduced in size and cone outer segments appeared shorter. The organization of the outer plexiform layer was disrupted, and synaptic structures of photoreceptors had a variable, partly immature, appearance. The associated visual deficiency was substantiated in behavioral paradigms. The IT mouse line serves as a specific model for the functional phenotype of human CSNB2 patients with gain-of-function mutations and may help to further understand the dysfunction in CSNB.

  2. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2

    PubMed Central

    Knoflach, Dagmar; Kerov, Vasily; Sartori, Simone B; Obermair, Gerald J; Schmuckermair, Claudia; Liu, Xiaoni; Sothilingam, Vithiyanjali; Garrido, Marina Garcia; Baker, Sheila A; Glösmann, Martin; Schicker, Klaus; Seeliger, Mathias; Lee, Amy; Koschak, Alexandra

    2013-01-01

    Mutations in the CACNA1F gene encoding the Cav1.4 Ca2+ channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2). Despite the increasing knowledge about the functional behavior of mutated channels in heterologous systems, the pathophysiological mechanisms that result in vision impairment remain to be elucidated. This work provides a thorough functional characterization of the novel IT mouse line that harbors the gain-of-function mutation I745T reported in a New Zealand CSNB2 family.1 Electroretinographic recordings in IT mice permitted a direct comparison with human data. Our data supported the hypothesis that a hyperpolarizing shift in the voltage-dependence of channel activation—as seen in the IT gain-of-function mutant2—may reduce the dynamic range of photoreceptor activity. Morphologically, the retinal outer nuclear layer in adult IT mutants was reduced in size and cone outer segments appeared shorter. The organization of the outer plexiform layer was disrupted, and synaptic structures of photoreceptors had a variable, partly immature, appearance. The associated visual deficiency was substantiated in behavioral paradigms. The IT mouse line serves as a specific model for the functional phenotype of human CSNB2 patients with gain-of-function mutations and may help to further understand the dysfunction in CSNB. PMID:24051672

  3. Congenital complete absence of pericardium in a young woman with non-specific symptoms.

    PubMed

    Bueno Palomino, Antonio; Palomar Estrada, Alberto; Crespín Crespín, Manuel; García Fuertes, Daniel

    2014-04-01

    Congenital absence of the pericardium is a very rare entity that is usually asymptomatic and hence difficult to diagnose. However, cases of sudden death have been reported in patients with partial pericardial defects (even asymptomatic ones), and such patients require surgical treatment. We report the case of a 17-year-old patient with complete pericardial agenesis (diagnosed by chance during a cardiological consultation) and briefly review the radiological findings of this entity.

  4. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.

    PubMed

    An, Jing; Zhang, Lei; Jiao, Bo; Lu, Fan; Xia, Feng; Yu, Zhibin; Zhang, Zuoming

    2015-05-15

    The CACNA1F gene encodes a member of the alpha-1F subunit family in the voltage-dependent calcium channel (Cav1.4) complex. Mutations in this gene result in incomplete congenital stationary night blindness (iCSNB2) in humans. And Cav1.4 mutation could affect the functions of the skeletal muscle. This study investigated the role of Cacna1f mutations in alteration of the skeletal muscle functions in a Cacna1f mutation rat model (Cacna1f(CSNB2) rat). We found that the muscle endurance behaviors of Cacna1f(CSNB2) rats were significantly lower than those of the wild-type rats. The high-frequency fatigue resistance of the soleus muscle was decreased in Cacna1f(CSNB2) rats under continuous tetanic stimulation. The expression levels of the syntaxin (SYN) proteins in the soleus of the Cacna1f(CSNB2) rats were lower than those of wild-type rats. SYN was expressed in the soleus muscle, but not in the extensor digitorum longus. The Cav1.4 protein was not detected in the skeletal muscle of Cacna1f(CSNB2) rats. The Cacna1f mRNA level in the soleus of Cacna1f(CSNB2) rats was decreased compared with that in wild-type rats. This study demonstrated for the first time that the Cacna1f mutation reduces the function of slow-twitch skeletal muscle. And it also demonstrated that the Cacna1f gene affects synapse-associated protein expression, which may block the signal transmission in synaptic connectivity of the retina and skeletal muscle in Cacna1f-mutant rats. Copyright © 2015. Published by Elsevier B.V.

  5. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    PubMed Central

    Hove, Marianne N.; Kilic-Biyik, Kevser Z.; Trotter, Alana; Grønskov, Karen; Sander, Birgit; Larsen, Michael; Carroll, Joseph; Bech-Hansen, Torben; Rosenberg, Thomas

    2016-01-01

    Purpose To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods A retrospective survey included individuals diagnosed with AED at a national low-vision center from 1980 to 2014. A subset of affected males underwent ophthalmologic examinations including psychophysical tests, full-field electroretinography, and spectral-domain optical coherence tomography. Results Over the 34-year period, 74 individuals from 35 families were diagnosed with AED. Sixty individuals from 29 families participated in a follow-up study of whom 59 harbored a CACNA1F mutation and 1 harbored a CABP4 mutation. Among the subjects with a CACNA1F mutation, subnormal visual acuity was present in all, nystagmus was present in 63%, and foveal hypoplasia was observed in 25/43 subjects. Foveal pit volume was significantly reduced as compared to normal (P < 0.0001). Additionally, outer segment length at the fovea was measured in 46 subjects and found to be significantly reduced as compared to normal (P < 0.001). Twenty-nine CACNA1F variations were detected among 34 families in the total cohort, and a novel CABP4 variation was identified in one family. The estimated mean birth prevalence rate was 1 per 22,000 live-born males. Conclusions Our data support the viewpoint that AED, iCSNB, and X-linked cone–rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. We argue that the original designation AED should be used for this entity. PMID:28002560

  6. Transient complete atrioventricular block in a preterm neonate with congenital myotonic dystrophy: case report.

    PubMed

    Kim, Hee Na; Cho, Young Kuk; Cho, Joo Hyun; Yang, Eun Mi; Song, Eun Song; Choi, Young Youn

    2014-06-01

    Congenital myotonic dystrophy (CMD) is an inherited neuromuscular disorder with cardiac rhythm abnormalities that may occur as a child grows. No report has described complete atrioventricular (AV) block detected in a neonate with CMD. We report a floppy infant of 31(+4) weeks gestation with complete AV block at birth, who was diagnosed with CMD by Southern analysis. She recovered from complete AV block 32 hr after temporary transcutaneous pacing was applied. To the best our knowledge, this is the first recorded case of a complete AV block accompanied by CMD during the neonatal period. When a newborn has a complete AV block, the physician should consider the possibility of the CMD and conduct a careful physical examination.

  7. A premature low-birth-weight infant with congenital complete atrioventricular block and myocarditis successfully treated by staged pacemaker implantation.

    PubMed

    Fujioka, Tao; Nii, Masaki; Tanaka, Yasuhiko

    2016-06-01

    Congenital complete atrioventricular block is a known lethal condition. Although antenatal diagnosis and the technical advances of pacemaker treatment have reduced its mortality, treatment of premature babies with significant myocardial damage remains a challenge. In this paper, we report the case of a premature low-birth-weight infant with congenital complete atrioventricular block and extremely low ventricular rate, fetal hydrops, and myocarditis who was successfully treated with staged permanent pacemaker implantation.

  8. Congenitally corrected transposition of the great vessels: localization of the site of complete atrioventricular block using his bundle electrograms.

    PubMed

    Foster, J R; Damato, A N; Kline, L E; Akhtar, M; Ruskin, J N

    1976-09-01

    Complete atrioventricular block proximal to the bundle of His in a patient with congenitally corrected transposition of the great vessels was documented using His bundle electrograms. The spontaneous rhythnm probably originated from the bundle of His and was responsive to carotid sinus massage, atropine and isometric and treadmill exercise. These electrophysiologic observations are consistent with recent anatomic studies of congenitally corrected transposition of the great vessels.

  9. Congenital hypothyroidism from complete iodide transport defect: long-term evolution with iodide treatment.

    PubMed Central

    Albero, R.; Cerdan, A.; Sanchez Franco, F.

    1987-01-01

    Hypothyroidism from iodide transport deficiency is a rare disease, especially when found in two affected siblings. Treatment with high doses of iodide has been recommended, but no long term results have been reported. Two siblings with congenital hypothyroidism due to total failure to transport iodide have been followed up during twelve and a half years of treatment with oral potassium iodide. Iodine doses varied between 10.3 and 22 mg/day, and serum total iodine concentrations between 100 and 210 micrograms/dl. Total triiodothyronine (T3), thyroxine (T4) and free T4 were in the normal range during the time of study. Basal thyroid stimulating hormones (TSH) and maximum TSH response to thyrotrophin releasing hormone (TRH) were also in the range of normal values. These data along with clinical findings confirmed the potential usefulness of iodine in hypothyroidism due to complete iodide transport defect. PMID:3451231

  10. Feto-maternal outcome in pregnancies complicated by isolated fetal congenital complete heart block.

    PubMed

    Roy, K K; Subbaiah, M; Kumar, S; Sharma, J B; Singh, N

    2014-08-01

    A retrospective analysis of eleven pregnancies complicated by isolated fetal congenital complete heart block (CCHB) in anti-SSA/Ro antibody positive women was carried out at a tertiary hospital in India to study the perinatal outcome. The mean gestational age at the time of detection of fetal CCHB was 24.5 ± 3.1weeks. Six mothers were asymptomatic; two had Sjögren's syndrome and three had systemic lupus erythematosus. Oral dexamethasone was given to all the patients after the diagnosis was made. There was one case of intrauterine death. Seven (63.6%) neonates needed a permanent pacemaker. There was no significant difference in the perinatal outcome in asymptomatic women with fetal CCHB and in women with connective tissue disorder and fetal CCHB. To conclude, fetal CCHB is associated with high morbidity but the presence of underlying connective disorder in the mother does not worsen the prognosis of the affected neonate.

  11. Depression and anxiety levels and self-concept characteristics of adolescents with congenital complete visual impairment.

    PubMed

    Bolat, Nurullah; Doğangün, Burak; Yavuz, Mesut; Demir, Türkay; Kayaalp, Levent

    2011-01-01

    Previous studies have reported that visual impairment can affect the mental health of children and adolescents. The aim of this study is to investigate the depression and anxiety levels and the self-concept characteristics of adolescents with congenital complete visual impairment. This is a cross-sectional study. 40 adolescents with congenital complete visual impairment studying in a specialized primary school for visual impairment, and 40 sighted adolescents were included in the study. Both groups were matched in terms of age, gender and socio-economic status. The mean age of the adolescents in both groups was 12.82±1.17. The Children's Depression Inventory, Piers-Harris Children's Self-Concept Scale, Spielberger Trait Anxiety Inventory for Children and sociodemographic form were used in the study. The mean scores of the scales obtained from both groups were compared using the Mann-Whitney U test. The difference between the two groups was not statistically significant either in terms of depression scores or in terms of total scores; the happiness, physical appearance, popularity, behavior and adjustment subscales scores of the Piers-Harris Children's Self-Concept Scale. The intellectual and school-status subscale scores of the adolescents with visual impairment were significantly higher than those of the controls. Anxiety levels of the adolescents with visual impairment were significantly higher when compared with sighted adolescents. These results indicate that the depression levels and self-concept characteristics of adolescents with visual impairment are similar to those of sighted adolescents, whereas the anxiety levels of the adolescents with visual impairment are significantly higher than those of the sighted ones.

  12. Complete tight fibrous band release and resection in congenital muscular torticollis.

    PubMed

    Lee, Il Jae; Lim, Sung Yoon; Song, Hyun Suk; Park, Myong Chul

    2010-06-01

    Congenital muscular torticollis (CMT) is caused by shortening of the sternocleidomastoid (SCM) muscle, which may lead to neck movement limitation and craniofacial deformity. The authors retrospectively reviewed clinical experiences of CMT at their hospital from February 2007 to June 2008. During the study period, 20 CMT patients underwent complete tight fibrous band release and resection. Mean patient age was 47.6 months at operation. Eighteen of the 20 patients started a programme of physical therapy preoperatively. All patients received well-controlled postoperative physical therapy and wore a soft neck collar to correct head position for at least 3 months. At 3 months postoperatively, passive ranges of neck motion were determined, and compared with those of uninvolved sides. Eighteen patients showed a full range of motion of neck rotation and lateral flexion, but one patient showed a 10 degrees limitation in lateral flexion, and another showed 10 degrees limitations of neck rotation and lateral flexion. The authors recommended that the described operative technique involving complete fibrous band release and resection, combined with intensive postoperative physical therapy and application of a soft neck collar, provides good functional and cosmetic results.

  13. Outcome of prenatally diagnosed isolated congenital complete atrioventricular block treated with transplacental betamethasone or ritodrine therapy.

    PubMed

    Hayashi, Taiyu; Kaneko, Masahide; Kim, Ki-Sung; Eryu, Yoshihiko; Shindo, Takahiro; Isoda, Takayoshi; Murashima, Atsuko; Ito, Yushi; Sago, Haruhiko

    2009-01-01

    The effectiveness of transplacental drug therapy for prenatally diagnosed isolated congenital complete atrioventricular block (CCAVB) is controversial. Nine cases of prenatal isolated CCAVB were treated from 2002 to 2007. Ritodrine was administered transplacentally to all fetuses and betamethasone to those whose mothers tested positive for maternal anti-SSA/Ro antibodies. Six of the nine patients had an anti-SSA/Ro-positive mother and received transplacental betamethasone 4 mg/day at a median gestational age of 28 weeks (range, 24-31 weeks). No patients exhibited an improvement in the degrees of complete heart block, and one patient died in utero. No serious adverse events occurred. After the mean follow-up period of 1.7 +/- 1.3 years, all five patients treated with transplacental betamethasone experienced a good cardiac function, whereas one of the three patients not treated with transplacental betamethasone experienced cardiomyopathy and died at the age of 4 months. Pacemaker implantation was required for seven of the eight live-born infants. Transplacental betamethasone therapy for the patients with isolated CCAVB neither improved the degree of atrioventricular block nor decreased the rate of patients requiring pacemaker implantation, but it probably reduced the risk for the development of myocardial disease.

  14. Exercise Performance in Children and Young Adults After Complete and Incomplete Repair of Congenital Heart Disease.

    PubMed

    Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal

    2015-12-01

    Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (<40 years) with CHD from both sexes, who had previously undergone biventricular corrective therapeutic interventions (n = 73), and non-CHD control participants (n = 76) underwent cardiopulmonary exercise testing. The CHD group was further divided according to the absence/presence of significant anatomical residua on a resting echocardiogram ("complete"/"incomplete" repair groups). Aerobic fitness and cardiac function were compared between groups using linear regression and analysis of covariance. Peak oxygen consumption, O2 pulse and ventilatory threshold were significantly lower in CHD patients compared with controls (all p < 0.01). Compared with the complete repair group, the incomplete repair group had a significantly lower mean peak work rate, age-adjusted O2 pulse (expressed as % predicted) and a higher VE/VCO2 ratio (all p ≤ 0.05). Peak oxygen consumption was comparable between the subgroups. Patients after corrected CHD have lower peak and submaximal exercise parameters. Patients with incomplete repair of their heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.

  15. Congenital completely buried penis in boys: anatomical basis and surgical technique.

    PubMed

    Liu, Xing; He, Da-wei; Hua, Yi; Zhang, De-ying; Wei, Guang-hui

    2013-07-01

    WHAT'S KNOWN ON THE SUBJECT? AND WHAT DOES THE STUDY ADD?: Surgical correction of the congenital completely buried penis (CCBP) is a difficult challenge and there is no unanimous consensus about the surgical 'gold standard' and patient eligibility for surgery. In the present study, dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis. This abnormality can be successfully corrected by releasing the fundiform ligament and mobilising the scrotal skin to cover the length of the penile shaft. The study shows that the paucity and traction of the penile skin and an abnormal fundiform ligament are important anatomical defects in CCBP. Dorsal curve and severe shortage of penile skin in erectile conditions are the main indications for surgical correction. To present our experience of anatomical findings for congenital completely buried penis (CCBP), which has no unanimous consensus regarding the 'gold standard' for surgical correction and patient eligibility, by providing our surgical technique and illustrations. Between February 2006 and February 2011, 22 children with a median (range) age of 4.2 (2.5-5.8) years, with CCBP underwent surgical correction by one surgeon. Toilet training and photographs of morning erections by parents were advised before surgery. The abnormal anatomical structure of buried penis during the operation was observed. The technique consisted of the release of the fundiform ligament, fixation of the subcutaneous penile skin at the base of the degloved penis, penoscrotal Z-plasty and mobilisation of the penile and scrotal skin to cover the penile shaft. In reflex erectile conditions, CCBP presents varying degrees of dorsal curve and shortage of penile skin. Dysgenetic fundiform ligaments were found to be attached to the distal or middle shaft of the penis in all patients. All wounds healed well and the cosmetic outcome was good at 6-month follow-up after the repair. The appearance of the dorsal curve in

  16. [Correlation of clinical and radiologic results of complete subtalar release in congenital clubfoot].

    PubMed

    Kalenderer, Onder; Ağuş, Haluk; Ak, Mümtaz; Ozlük, Serkan

    2003-01-01

    We evaluated the mid-term results in patients who underwent complete subtalar release with the use of the Cincinnati incision for congenital clubfoot. Complete subtalar release was performed in 30 feet of 23 patients (16 boys, 7 girls; 7 bilateral cases). The mean age at surgery was 17.5 months (range 2 to 84 months). Clinically, cosmetic appearance, adduction of the forefoot, the range of motion of the ankle joint, and muscle strength were evaluated. Radiologic evaluations included talocalcaneal angles on antero-posterior and lateral views, talocalcaneal index, talar-first metatarsal angles, calcaneal-fifth metatarsal angles, and Bohler angles. Talar and navicular bone lengths were compared with the other side in unilateral patients. The results were evaluated according to the Simons' criteria. The mean follow-up was 9 years and 8 months (range 7 years to 14 years). The mean range of motion of the ankle joint was measured as 47 degrees (range 10 degrees to 60 degrees ). The parents of three patients were not satisfied with the clinical results. Clinically, six patients had metatarsus adductus. Radiologically, flattening of the talar head (7 patients) and the talar dome (2 patients) were detected in unilateral patients. Navicular dorsal subluxation was found in seven feet. Compared to the normal side, the mean navicular shortening was 2.6 mm (range 0 to 4 mm), the mean talar shortening was 4.8 mm (range 2 to 11 mm). According to the Simons' criteria, the results were satisfactory in 27 feet (90%) and unsatisfactory in three feet (10%). Our results suggest that complete subtalar release for the treatment of clubfoot enables correction of all components of the deformity at a single session, and that its clinical results are more favorable than radiologic results, without requiring a close cooperation of the parents.

  17. Spontaneous Remission of Congenital Complete Atrioventricular Block in Anti-Ro/La Antibody-Negative Monozygotic Twins: Case Report

    PubMed Central

    Kasar, Taner; Saygı, Murat; Özyılmaz, İsa; Ergül, Yakup

    2017-01-01

    Background: Congenital complete atrioventricular block without any structural heart disease and anti-Ro/La negativity is very rare. Discordant complete atrioventricular block, which is more frequently defined in the literature as an autoimmune mechanism, is much more rare in monozygotic twins. Case Report: The 26-year-old healthy mother had given birth in her first spontaneous, uneventful pregnancy to monozygotic twins at week 35. While the first twin’s physical examination proved her to be normal with a pulse rate consistent with her age, the second twin had a pulse rate of approximately 40 beats/minute.The patient was confirmed to have congenital complete atrioventricular block. Conclusion: Despite this case appears to be an isolated one, a discordant complete atrioventricular block regression without any autoimmune evidence should be included in the differential diagnosis of bradycardia in infants. PMID:28251027

  18. Leber Congenital Amaurosis

    MedlinePlus

    ... Campaign to End Blindness Other Ways to Fight Blindness Corporate Support Volunteer Take Action You are here ... confused with congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and ...

  19. Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease.

    PubMed

    Murray, Laura E; Smith, Andrew H; Flack, English C; Crum, Kim; Owen, Jill; Kannankeril, Prince J

    2017-03-01

    Complete heart block (CHB) is a major complication that occurs after congenital heart surgery. We hypothesized that genetic and clinical factors are associated with the development of postoperative CHB and recovery of atrioventricular (AV) conduction. The purpose of this study was to identify predictors of CHB and recovery after congenital heart surgery. Patients undergoing congenital heart surgery at our institution from September 2007 through June 2015 were prospectively enrolled in a parent study of postoperative arrhythmias. Patients with onset of CHB within 48 hours postoperatively were included in the study. Daily rhythm assessment was performed until demonstration of 1:1 conduction or pacemaker implantation. Of 1199 subjects enrolled, 56 (4.7%) developed postoperative CHB. In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB. Junctional acceleration (JA) (OR 4.0, 95% CI 1.1-15.1) and intermittent conduction noted during complete AV block (OR 9.1, 95% CI 1.0-80) were independently associated with 1:1 AV conduction recovery. Use of a multivariate model including both JA and intermittent conduction demonstrated good discrimination with a positive predictive value of 86% (95% CI 67%-96%) in predicting 1:1 conduction recovery. Preoperative factors, including a missense polymorphism in GJA5, are independently associated with increased risk for CHB. JA and intermittent conduction may prove useful in predicting recovery of AV conduction among patients with CHB after congenital heart surgery. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  20. Management of a Patient With Tetralogy of Fallot, Congenital Diaphragmatic Hernia, and Complete Left Lung Agenesis.

    PubMed

    Labovsky, Kristen; Hoffman, George; Scott, John

    2016-07-01

    We describe the rare case of an infant with congenital diaphragmatic hernia, unilateral lung agenesis, and unpalliated single-ventricle physiology. Infants with congenital diaphragmatic hernia and parallel circulation are at risk for maldistribution of systemic and pulmonary blood flow. Optimal perioperative management should include an assessment of the ratio of pulmonary to systemic blood flow (Qp:Qs). Traditionally, arterial and systemic venous oxygen (SvO2) saturations are needed to calculate Qp:Qs. However, in this case, SvO2 measurement was not feasible. On the basis of a previously described relationship, we used 2-site near-infrared spectroscopy to calculate a near-infrared spectroscopy-derived SvO2, which was then used to estimate Qp:Qs and guide goal-directed interventions.

  1. Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness.

    PubMed

    Scott, Michelle L; John, Emily E; Bellone, Rebecca R; Ching, John C H; Loewen, Matthew E; Sandmeyer, Lynne S; Grahn, Bruce H; Forsyth, George W

    2016-06-21

    Congenital stationary night-blindness (CSNB) is a recessive autosomal defect in low-light vision in Appaloosa and other horse breeds. This condition has been mapped by linkage analysis to a gene coding for the Transient Receptor Potential cation channel Member 1 (TRPM1). TRPM1 is normally expressed in the ON-bipolar cells of the inner nuclear layer of the retina. Down-regulation of TRPM1 expression in CSNB results from a transposon-like insertion in intron 1 of the TRPM1 gene. Stop transcription signals in this transposon significantly reduce TRPM1 primary transcript levels in CSNB horses. This study describes additional contributions by a second mutation of the TRPM1 gene, the ECA1 108,249,293 C > T SNP, to down-regulation of transcription of the TRPM1 gene in night-blind horses. This TRPM1 SNP introduces a consensus binding site for neuro-oncological ventral antigen 1 (Nova-1) protein in the primary transcript. Nova-1 binding disrupts normal splicing signals, producing unstable, non-functional mRNA transcripts. Retinal bipolar cells express both TRPM1 and Nova-1 proteins. In vitro addition of Nova-1 protein retards electrophoretic migration of TRPM1 RNA containing the ECA1 108,249,293 C > T SNP. Up-regulating Nova-1 expression in primary cultures of choroidal melanocytes carrying the intron 11 SNP caused an average log 2-fold reduction of ~6 (64-fold) of TRPM1 mRNA expression. These finding suggest that the equine TRPM1 SNP can act independently to reduce survival of TRPM1 mRNA escaping the intron 1 transcriptional stop signals in CSNB horses. Coexistence and co-inheritance of two independent TRPM1 mutations across 1000 equine generations suggests a selective advantage for the apparently deleterious CSNB trait.

  2. An Unusual Content in a Congenital Hernia - Complete Spleno -gonadal Fusion Band.

    PubMed

    Mahalakshmi, V N; Barathi, S Deepak

    2013-06-01

    Six years old boy underwent elective inguinal exploration for left congenital hernia. Per- operatively, an elongated, purplish-red, fleshy band of tissue was found inside the sac, adherent to the upper pole of testis. Biopsy was taken and the wound closed. An MRI done after 4 weeks proved the origin of the band from spleen. Laparotomy and excision of the band was done. The histo-pathology of the specimen was reported as normal splenic tissue. The above features are consistent with a diagnosis of spleno - gonadal fusion (SGF).

  3. Complete sternal cleft — A rare congenital malformation and its repair in a 3-month-old boy: A case report

    PubMed Central

    Kothari, Paras; Gupta, Abhaya; Patil, Prashant S.; Kekre, Geeta; Kamble, Ravi; Dikshit, Kiran Vishesh

    2016-01-01

    Complete midline sternal cleft is a rare congenital anomaly resulting from failed midline ventral fusion of the sternal bars. Very few cases of complete sternal cleft have been described in literature. We present a case of complete sternal cleft in a 3-month-old child. The patient underwent primary closure of the defect using stainless steel wires. PMID:27046980

  4. Association of temporary complete AV block and junctional ectopic tachycardia after surgery for congenital heart disease.

    PubMed

    Paech, Christian; Dähnert, Ingo; Kostelka, Martin; Mende, Meinhardt; Gebauer, Roman

    2015-01-01

    Junctional ectopic tachycardia (JET) is a postoperative complication with a mortality rate of up to 14% after surgery for congenital heart disease. This study evaluated the risk factors of JET and explored the association of postoperative temporary third degree atrioventricular (AV) block and the occurrence of JET. Data were collected retrospectively from 1158 patients who underwent surgery for congenital heart disease. The overall incidence of JET was 2.8%. Temporary third degree AV block occurred in 1.6% of cases. Permanent third degree AV block requiring pacemaker implantation occurred in 1% of cases. In all, 56% of patients with JET had temporary AV block (P < 0.001), whereas no case of postoperative JET was reported in patients with permanent AV block (P = 0.56). temporary third degree AV block did not suffer from JET. A correlation between temporary third degree AV block and postoperative JET could be observed. The risk factors identified for JET include younger age groups at the time of surgery, longer aortic cross clamping time and surgical procedures in proximity to the AV node.

  5. Methodical endoscopic repair of congenital indirect inguinoscrotal hernia in adult male patients with completely patent processus vaginalis.

    PubMed

    Berney, C R

    2017-07-11

    Indirect inguinal hernia related to the presence of a patent processus vaginalis (PPV) in adult is estimated to be around 15%. Most surgeons would favor a standard anterior hernioplasty to minimize the potential risk of damaging the spermatic cord structures that are always intimately fused to the congenital peritoneal sac. This also means overlooking the potential benefit of alternative posterior techniques such as endoscopic totally extraperitoneal (TEP) repair that is known to offer faster recovery with reduced risk of developing chronic groin pain. The aim of this study was to evaluate the safety of TEP approach for repair of adult inguinoscrotal hernias associated with completely PPV and to compare those results with a corresponding group of male patients undergoing an identical procedure, but with no demonstrated PPV. This is a prospective study of consecutive male patients diagnosed with inguinal hernia during a 10-year period and eligible for endoscopic TEP repair. Every recognized completely PPV were systematically divided taking care not to damage the attached cord structures and the proximal end closed with a pre-tied Endoloop of PDS. In both groups, all meshes were secured with fibrin sealant only. Patients were reviewed in clinic 2 and 6 weeks after the operation. Further follow-up was scheduled if deemed necessary. The primary post-operative outcome parameter was spermatic cord injury; secondary outcome parameters included groin pain, surgical complications, and recurrence. Nine hundred and thirty-nine hernia repairs were prospectively recorded during this period. All procedures were carried out endoscopically. A total of 41 patients with a median age of 27 years presented with 43 inguinoscrotal hernias (two bilateral) related to the presence of a congenital completely PPV. 72% of them were right-sided. No injury to the cord structures was recorded and only one complication (2.4%) occurred at 1 week post-operatively that was unrelated to the PPV

  6. Successful Fetoscopic Surgery to Release a Complete Obstruction of the Urethral Meatus in a Case of Congenital Megalourethra.

    PubMed

    Migliorelli, Federico; Martínez, José María; Gómez, Olga; Bennasar, M; Crispi, Fatima; García, Luis; Castañón, Montserrat; Gratacós, Eduard

    2015-01-01

    We report the successful use of fetoscopy to treat a case of severe low urinary tract obstruction (LUTO) secondary to a congenital megalourethra. A second trimester male fetus presented at 21 weeks of gestation with massive dilatation of the penile urethra. In addition, bilateral hydronephrosis, an enlarged and hypertrophic bladder, with progressive oligohydramnios were found, suggesting poor prognosis. Extensive counselling was performed and, after the approval from the local ethics committee and informed consent, patients accepted fetal therapy by fetoscopy. The procedure consisted in fetoscopic identification of the tip of the penis and confirmation of the complete absence of the urethral meatus. Thereafter, under combined endoscopic and ultrasound guidance a perforation of the tip of the penis was performed with contact diode laser, until an opening into the urethra was achieved. After the operation, resolution of the cystic penile dilation, with reduction of the penile size, and normalization of the amniotic fluid volume were observed. The pregnancy continued uneventfully and a normal male infant was born at term at the local hospital. The baby was developing normally with normal renal function at 6 months of age. Our report demonstrates that fetoscopic decompression of a distal urethra obstruction can achieve neonatal survival in the rare event of congenital megalourethra.

  7. Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population

    PubMed Central

    Thongnak, Chuphong; Tangviriyapaiboon, Duangkamol; Silvilairat, Suchaya; Puangpetch, Apichaya; Pasomsub, Ekawat

    2016-01-01

    Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing. Methods. Genomic DNA was collected from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block. Whole exome sequencing was performed on one complete heart block affected child and one unaffected sibling. Bioinformatics was used to identify annotated and filtered variants. Candidate variants were validated and the segregation analysis of other family members was performed. Results. This study identified compound heterozygous variants, c.101G>A and c.3832G>A, in the SCN5A gene and c.28730C>T in the TTN gene. Conclusions. Compound heterozygous variants in the SCN5A gene were found in the complete heart block affected child but these two variants were found only in the this affected sibling and were not found in other unaffected family members. Hence, these variants in the SCN5A gene were the most possible disease-causing variants in this family. PMID:28018021

  8. Comparing surgical outcomes of complete thoracoscopic lobectomy for congenital cystic lung disease between neonatal and infantile patients

    PubMed Central

    Tainaka, Takahisa; Uchida, Hiroo; Tanaka, Yujiro; Shirota, Chiyoe; Yokota, Kazuki; Murase, Naruhiko; Oshima, Kazuo; Shirotsuki, Ryo; Chiba, Kosuke; Hinoki, Akinari

    2016-01-01

    ABSTRACT Thoracoscopic lobectomy has recently become a widely used surgical treatment for congenital cystic lung disease, but significant issues can arise in some cases, such as a limited working space in neonates, a limited view in cases involving large cystic lesions. We reviewed the treatment outcomes of neonates that underwent complete thoracoscopic lobectomy or segmentectomy and evaluated the operative difficulties. From January 2008 to October 2015, 38 patients under the age of 1 year underwent complete thoracoscopic lobectomy or segmentectomy for cystic lung disease at our institution. We compared the intra- and postoperative data of the neonate group (N group) with those of the infant group (I group). Fourteen and 24 patients underwent thoracoscopic lobectomy or segmentectomy in the N group and I group, respectively. The operative time and amount of intraoperative blood loss did not differ significantly between the two groups (p=0.694 and p=0.878, respectively), but the duration of the postoperative hospitalization period was significantly longer (p<0.01) in the N group. The frequencies of postoperative complications did not differ significantly between the two groups. The operative time of thoracoscopic lobectomy was significantly longer in cases involving incomplete lobar fissures than in those involving normal lobar fissures. Surgical outcomes of complete thoracoscopic lobectomy for neonatal cases are almost equivalent compared with infantile cases, and thoracoscopic lobectomy takes longer in cases involving incomplete lobar fissures. PMID:28008200

  9. Congenital Zika virus syndrome in Brazil: a case series of the first 1501 livebirths with complete investigation.

    PubMed

    França, Giovanny V A; Schuler-Faccini, Lavinia; Oliveira, Wanderson K; Henriques, Claudio M P; Carmo, Eduardo H; Pedi, Vaneide D; Nunes, Marília L; Castro, Marcia C; Serruya, Suzanne; Silveira, Mariângela F; Barros, Fernando C; Victora, Cesar G

    2016-08-27

    In November, 2015, an epidemic of microcephaly was reported in Brazil, which was later attributed to congenital Zika virus infection. 7830 suspected cases had been reported to the Brazilian Ministry of Health by June 4, 2016, but little is known about their characteristics. We aimed to describe these newborn babies in terms of clinical findings, anthropometry, and survival. We reviewed all 1501 liveborn infants for whom investigation by medical teams at State level had been completed as of Feb 27, 2016, and classified suspected cases into five categories based on neuroimaging and laboratory results for Zika virus and other relevant infections. Definite cases had laboratory evidence of Zika virus infection; highly probable cases presented specific neuroimaging findings, and negative laboratory results for other congenital infections; moderately probable cases had specific imaging findings but other infections could not be ruled out; somewhat probable cases had imaging findings, but these were not reported in detail by the local teams; all other newborn babies were classified as discarded cases. Head circumference by gestational age was assessed with InterGrowth standards. First week mortality and history of rash were provided by the State medical teams. Between Nov 19, 2015, and Feb 27, 2015, investigations were completed for 1501 suspected cases reported to the Brazilian Ministry of Health, of whom 899 were discarded. Of the remainder 602 cases, 76 were definite, 54 highly probable, 181 moderately probable, and 291 somewhat probable of congenital Zika virus syndrome. Clinical, anthropometric, and survival differences were small among the four groups. Compared with these four groups, the 899 discarded cases had larger head circumferences (mean Z scores -1·54 vs -3·13, difference 1·58 [95% CI 1·45-1·72]); lower first-week mortality (14 per 1000 vs 51 per 1000; rate ratio 0·28 [95% CI 0·14-0·56]); and were less likely to have a history of rash during pregnancy

  10. Congenital complete absence of GH, TSH and PRL in infants: a consequence of Pit-1 gene deletion.

    PubMed

    Preeyasombat, C; Suprasongsin, C; Chiranuphab, A; Mahachoklertwattana, P; Sriphrapradang, A; Choubtum, L

    1993-10-01

    The patient was the first child of a short mother (140 cm) born at term with a birthweight of 2,700 g. On arrival, she was 1 4/12-year-old, weighed 4,150 g and 47 cm long. Her bone age was at the 6 month-old level. Endocrine investigation revealed undetectable plasma growth hormone (GH), thyrotropin (TSH) and prolactin (PRL) levels. CT scan of ovaries revealed bilateral ovarian agenesis in spite of normal, 46 XX karyotype. MRI of the brain did not demonstrate intracranial tumor or congenital malformation. Peak plasma GH level after oral clonidine provocation, insulin induced hypoglycemia, and I.V. GH-RF stimulation were 0.6, 0, and 0 ng/ml respectively. Peak plasma TSH response after I.V. TRH stimulation was 0.04 microU/ml. The patient could not secrete PRL at any time after insulin induced hypoglycemia, TRH and metoclopramide stimulations. On the other hand the child had elevated basal plasma cortisol (38 micrograms/dl at 8.00 AM) and raised 24 hr urinary 17 OHCS excretion (50 mg/1 g Cr against normal value of 3 mg/1 g Cr) without evidence of Cushing syndrome probably indicate partial glucocorticoid resistance. Peak plasma cortisol responses after intravenous metoclopramide and insulin induced hypoglycemia were 46 and 42.9 micrograms/dl respectively. Dexamethasone administration reduced plasma cortisol to 2.9 micrograms/dl. The child had also elevated basal plasma FSH (36 microU/ml) and LH (5 microU/ml) with further elevation to the peak of 123 and 99 microU/ml respectively after LHRH stimulation. All evidence suggested the diagnosis of congenital complete absence of GH, TSH, and PRL which is characteristic of Pit-1-gene deletion.(ABSTRACT TRUNCATED AT 250 WORDS)

  11. Sexual orientation and medical history among Iranian people with Complete Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia.

    PubMed

    Khorashad, Behzad S; Roshan, Ghasem M; Reid, Alistair G; Aghili, Zahra; Hiradfar, Mehran; Afkhamizadeh, Mozhgan; Talaei, Ali; Aarabi, Azadeh; Ghaemi, Nosrat; Taghehchian, Negin; Saberi, Hedieh; Farahi, Nazanin; Abbaszadegan, Mohammad Reza

    2017-01-01

    To report sexual orientation, relationship status and medical history of Iranian people with Differences of Sex Development (DSD) who were raised female. Our participants consisted of nineteen 46,XY individuals with Complete Androgen Insensitivity Syndrome (CAIS) and eighteen 46,XX individuals with Congenital Adrenal Hyperplasia (CAH) who were raised as females and older than 13years. As well as their relationship status and detailed medical history, an expert psychiatrist assessed their sexual orientation by a semi-structured psychiatric interview with them and, where applicable, their parents. Five percent of CAH participants and 42% of CAIS participants were in a relationship, which was significantly different. All CAH individuals had been diagnosed at birth; 89% of CAIS had been diagnosed after puberty and due to primary amenorrhea and 11% were diagnosed in childhood due to inguinal hernia. Genital reconstructive surgery had been performed in 100% of CAH participants and 37% of CAIS. Regarding sexual contact experiences and sexual fantasies (androphilic, gynephilic or both), no significant differences were found. However, CAH females had significantly more gynephilic dreams (P=0.045). This study, notable as one of the rare from a non-western culture, described sexual, medical and socioeconomic status of 46,XX CAH and 46,XY CAIS individuals living in Iran. Although broadly in line with previous findings from Western cultures, Iranian CAH individuals had fewer romantic relationships, but in contrast to previous studies their sexual orientation was only different from CAIS in the contents of sexual dreams. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. [Completeness assessment of the Breton registry of congenital abnormalities: A checking tool based on hospital discharge data].

    PubMed

    Riou, C; Rouget, F; Sinteff, J-P; Pladys, P; Cuggia, M

    2015-08-01

    Exhaustiveness is required for registries. In the Breton registry of congenital abnormalities, cases are recorded at the source. We use hospital discharge data in order to verify the completeness of the registry. In this paper, we present a computerized tool for completeness assessment applied to the Breton registry. All the medical information departments were solicited once a year, asking for infant medical stays for newborns alive at one year old and for mother's stays if not. Files were transmitted by secure messaging and data were processed on a secure server. An identity-matching algorithm was applied and a similarity score calculated. When the record was not linked automatically or manually, the medical record had to be consulted. The exhaustiveness rate was assessed using the capture recapture method and the proportion of cases matched manually was used to assess the identity matching algorithm. The computerized tool bas been used in common practice since June 2012 by the registry investigators. The results presented concerned the years 2011 and 2012. There were 470 potential cases identified from the hospital discharge data in 2011 and 538 in 2012, 35 new cases were detected in 2011 (32 children born alive and 3 stillborn), and 33 in 2012 (children born alive). There were respectively 85 and 137 false-positive cases. The theorical exhaustiveness rate reached 91% for both years. The rate of exact matching amounted to 68%; 6% of the potential cases were linked manually. Hospital discharge databases contribute to the quality of the registry even though reports are made at the source. The implemented tool facilitates the investigator's work. In the future, use of the national identifying number, when allowed, should facilitate linkage between registry data and hospital discharge data. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  13. Isolated congenital complete heart block in a five-year-old seronegative girl born to a woman seropositive for human immunodeficiency virus: a case report.

    PubMed

    Pallangyo, Pedro; Mawenya, Isaac; Nicholaus, Paulina; Mayala, Henry; Kalombola, Amida; Sharau, Godwin; Majani, Naiz; Janabi, Mohamed

    2016-10-19

    Congenital complete heart block is a life-threatening condition which is highly associated with autoimmune and connective tissue disorders. Presence of maternal autoantibodies for associated conditions increases the risk of delivering a child with congenital complete heart block, however, less than a half of all women with such antibodies are symptomatic even after delivery. Mortality rate is highest during the neonatal period (45 %) and about two-thirds of all cases will require permanent pacing at some point in their lives. We report a case of isolated complete heart block in a 5-year-old HIV-free girl of African descent born to an HIV-infected woman with no prior history of autoimmune disorders. She was referred to us with chief complaints of recurrent syncopal attacks and effort intolerance since birth. A physical examination was unremarkable except for her being small for her age (body mass index 16.3 kg/m(2)) and bradycardia. Her vital signs were within acceptable range with the exception of her pulse rate, which ranged between 22 and 34 beats/minute. An echocardiogram revealed a sinus bradycardia, otherwise a structurally normal heart. An electrocardiogram showed atrioventricular dissociation in keeping with third-degree atrioventricular block. The child underwent a permanent epicardial pacemaker insertion and has been symptom-free following pacing. Despite its infrequency and life-threatening potential, patients with congenital complete heart block have an excellent survival rate with timely diagnosis and intervention. An incidental detection of bradycardia in a fetus during routine obstetrical ultrasound examination should increase the index of suspicion for congenital complete heart block and warrant a screening for associated maternal autoantibodies.

  14. Diminished exercise capacity and chronotropic incompetence in pediatric patients with congenital complete heart block and chronic right ventricular pacing.

    PubMed

    Motonaga, Kara S; Punn, Rajesh; Axelrod, David M; Ceresnak, Scott R; Hanisch, Debra; Kazmucha, Jeffrey A; Dubin, Anne M

    2015-03-01

    Chronic right ventricular (RV) pacing has been associated with decreased exercise capacity and left ventricular (LV) function in adults with congenital complete atrioventricular block (CCAVB), but not in children. The purpose of this study was to evaluate the exercise capacity and LV function in pediatric patients with CCAVB receiving chronic RV pacing. We prospectively evaluated pediatric patients with isolated CCAVB receiving atrial synchronous RV pacing for at least 5 years. Supine bicycle ergometry was performed, and LV ejection fraction (EF) was evaluated by echocardiography. Ten CCAVB subjects and 31 controls were matched for age, gender, and body surface area. CCAVB subjects had normal resting EF (63.1% ± 4.0%) and had been paced for 7.9 ± 1.4 years. Exercise testing demonstrated reduced functional capacity in CCAVB patients compared to controls with a lower VO₂peak (26.0 ± 6.6 mL/kg/min vs 39.9 ± 7.0 mL/kg/min, P <.001), anaerobic threshold (15.6 ± 3.9 mL/kg/min vs 18.8 ± 2.7 mL/kg/min, P = .007), and oxygen uptake efficiency slope (1210 ± 406 vs 1841 ± 452, P <.001). Maximum heart rate (165 ± 8 bpm vs 185 ± 9 bpm, P <.001) and systolic blood pressure (159 ± 17 mm Hg vs 185 ± 12 mm Hg, P <.019) also were reduced in CCAVB patients despite maximal effort (respiratory exchange ratio 1.2 ± 0.1). EF was augmented with exercise in controls but not in CCAVB patients (13.2% ± 9.3% vs 0.2% ± 4.8% increase, P <.001). Clinically asymptomatic children with chronic RV pacing due to CCAVB have significant reductions in functional capacity accompanied by chronotropic incompetence and inability to augment EF with exercise. Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  15. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

    ... Facebook Twitter Home Health Conditions congenital hypothyroidism congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  16. Leber congenital amaurosis.

    PubMed

    Perrault, I; Rozet, J M; Gerber, S; Ghazi, I; Leowski, C; Ducroq, D; Souied, E; Dufier, J L; Munnich, A; Kaplan, J

    1999-10-01

    Leber's congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies responsible for congenital blindness. Genetic heterogeneity of LCA has been suspected since the report by Waardenburg of normal children born to affected parents. In 1995, we localized the first disease causing gene, LCA1, to chromosome 17p13 and confirmed the genetic heterogeneity. In 1996, we ascribed LCA1 to mutations in the photoreceptor-specific guanylate cyclase gene (retGC1). RetGC1 is an essential protein implicated in the phototransduction cascade, especially in the recovery of the dark state after the excitation process of photoreceptor cells by light stimulation. In 1997, mutations in a second gene were reported in LCA, the RPE65 gene, which is the first specific retinal pigment epithelium gene. The protein RPE65 is implicated in the metabolism of vitamin A, the precursor of the photoexcitable retinal pigment (rhodopsin). Finally, a third gene, CRX, implicated in photoreceptor development, has been suspected of causing a few cases of LCA. Taken together, these three genes account for only 27% of LCA cases in our series. The three genes encode proteins that are involved in completely different physiopathologic pathways. Based on these striking differences of physiopathologic processes, we reexamined all clinical physiopathological discrepancies and the results strongly suggested that retGC1 gene mutations are responsible for congenital stationary severe cone-rod dystrophy, while RPE65 gene mutations are responsible for congenital severe but progressive rod-cone dystrophy. It is of tremendous importance to confirm and to refine these genotype-phenotype correlations on a large scale in order to anticipate the final outcome in a blind infant, on the one hand, and to further guide genetic studies in older patients on the other hand.

  17. Extraction of chronic pacing lead and angioplasty for complete superior baffle obstruction in complex congenital heart disease.

    PubMed

    Sadagopan, Shankar N; Veldtman, Gruschen R; Roberts, Paul R

    2008-12-01

    Laser lead extraction in adult patients with congenital heart disease is safe and effective. Baffle angioplasty for obstruction in patients with a Mustard procedure is well established. We describe a unique combined interventional and electrophysiological approach on a patient with superior baffle obstruction. This technique utilized the channel created after extracting the chronic pacing lead to cross the obstruction and stent angioplasty of the superior baffle.

  18. Transgenic Mice Carrying the H258N Mutation in the Gene Encoding the β-Subunit of Phosphodiesterase-6 (PDE6B) Provide a Model for Human Congenital Stationary Night Blindness

    PubMed Central

    Tsang, Stephen H.; Woodruff, Michael L.; Jun, Lin; Mahajan, Vinit; Yamashita, Clyde K.; Pedersen, Robert; Lin, Chyuan-Sheng; Goff, Stephen P.; Rosenberg, Thomas; Larsen, Michael; Farber, Debora B.; Nusinowitz, Steven

    2009-01-01

    Mutations in the β-subunit of cGMP-phosphodiesterase (PDE6β) can lead to either progressive retinal disease, such as human retinitis pigmentosa (RP), or stationary disease, such as congenital stationary night blindness (CSNB). Individuals with CSNB in the Rambusch pedigree were found to carry the H258N allele of PDE6B (MIM# 180072); a similar mutation was not found in RP patients. This report describes an individual carrying the H258N allele, who presented with generalized retinal dysfunction affecting the rod system and a locus of dysfunction at the rod-bipolar interface. Also described are preclinical studies in which transgenic mice with the H258N allele were generated to study the pathophysiological mechanisms of CSNB. While Pde6brd1/Pde6brd1 mice have severe photoreceptor degeneration, as in human RP, the H258N transgene rescued these cells. The cGMP-PDE6 activity of dark-adapted H258N mice showed an approximate three-fold increase in the rate of retinal cGMP hydrolysis: from 130.1 nmol × min−1 × nmol−1 rhodopsin in wild-type controls to 319.2 nmol × min−1 × nmol−1 rhodopsin in mutants, consistent with the hypothesis that inhibition of the PDE6β activity by the regulatory PDE6γ subunit is blocked by this mutation. In the albino (B6CBA × FVB) F2 hybrid background, electroretinograms (ERG) from H258N mice were similar to those obtained from affected Rambusch family members, as well as humans with the most common form of CSNB (X-linked), demonstrating a selective loss of the b-wave with relatively normal a-waves. When the H258N allele was introduced into the DBA background, there was no evidence of selective reduction in b-wave amplitudes; rather a- and b-wave amplitudes were both reduced. Thus, factors other than the PDE6B mutation itself could contribute to the variance of an electrophysiological response. Therefore, caution is advisable when interpreting physiological phenotypes associated with the same allele on different genetic backgrounds

  19. A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

    PubMed

    Manes, Gaël; Cheguru, Pallavi; Majumder, Anurima; Bocquet, Béatrice; Sénéchal, Audrey; Artemyev, Nikolai O; Hamel, Christian P; Brabet, Philippe

    2014-01-01

    Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin α-subunit (GNAT1), and cGMP phosphodiesterase type 6 β-subunit (PDE6B). In most cases, the constitutive activation of the phototransduction cascade is a prerequisite to cause adCSNB. The unique adCSNB-associated PDE6B mutation found in the Rambusch pedigree, the substitution p.His258Asn, leads to rod photoreceptors desensitization. Here, we report a three-generation French family with adCSNB harboring a novel PDE6B mutation, the duplication, c.928-9_940dup resulting in a tyrosine to cysteine substitution at codon 314, a frameshift, and a premature termination (p.Tyr314Cysfs*50). To understand the mechanism of the PDE6β1-314fs*50 mutant, we examined the properties of its PDE6-specific portion, PDE6β1-313. We found that PDE6β1-313 maintains the ability to bind noncatalytic cGMP and the inhibitory γ-subunit (Pγ), and interferes with the inhibition of normal PDE6αβ catalytic subunits by Pγ. Moreover, both truncated forms of the PDE6β protein, PDE6β1-313 and PDE6β1-314fs*50 expressed in rods of transgenic X. laevis are targeted to the phototransduction compartment. We hypothesize that in affected family members the p.Tyr314Cysfs*50 change results in the production of the truncated protein, which binds Pγ and causes constitutive activation of the phototransduction thus leading to the absence of rod adaptation.

  20. Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function.

    PubMed

    Michalakis, Stylianos; Mühlfriedel, Regine; Tanimoto, Naoyuki; Krishnamoorthy, Vidhyasankar; Koch, Susanne; Fischer, M Dominik; Becirovic, Elvir; Bai, Lin; Huber, Gesine; Beck, Susanne C; Fahl, Edda; Büning, Hildegard; Paquet-Durand, François; Zong, Xiangang; Gollisch, Tim; Biel, Martin; Seeliger, Mathias W

    2010-12-01

    Congenital absence of cone photoreceptor function is associated with strongly impaired daylight vision and loss of color discrimination in human achromatopsia. Here, we introduce viral gene replacement therapy as a potential treatment for this disease in the CNGA3(-/-) mouse model. We show that such therapy can restore cone-specific visual processing in the central nervous system even if cone photoreceptors had been nonfunctional from birth. The restoration of cone vision was assessed at different stages along the visual pathway. Treated CNGA3(-/-) mice were able to generate cone photoreceptor responses and to transfer these signals to bipolar cells. In support, we found morphologically that treated cones expressed regular cyclic nucleotide-gated (CNG) channel complexes and opsins in outer segments, which previously they did not. Moreover, expression of CNGA3 normalized cyclic guanosine monophosphate (cGMP) levels in cones, delayed cone cell death and reduced the inflammatory response of Müller glia cells that is typical of retinal degenerations. Furthermore, ganglion cells from treated, but not from untreated, CNGA3(-/-) mice displayed cone-driven, light-evoked, spiking activity, indicating that signals generated in the outer retina are transmitted to the brain. Finally, we demonstrate that this newly acquired sensory information was translated into cone-mediated, vision-guided behavior.

  1. Pattern of recovery for transient complete heart block after open heart surgery for congenital heart disease: duration alone predicts risk of late complete heart block.

    PubMed

    Aziz, Peter F; Serwer, Gerald A; Bradley, David J; LaPage, Martin J; Hirsch, Jennifer C; Bove, Edward L; Ohye, Richard G; Dick, Macdonald

    2013-04-01

    Transient complete heart block (TCHB) is defined as complete interruption of atrioventricular conduction (AVC) after cardiac surgery followed by return of conduction. This study aimed to assess the risk for the development of late complete heart block (LCHB) after recovery of TCHB and to examine the electrocardiographic and electrophysiologic properties of the AVC system after TCHB. Of the 44 patients in this study who experienced TCHB, 37 recovered completely. Seven patients progressed from TCHB to intermittent CHB or LCHB requiring pacemaker implantation. Preoperative, early postoperative, and late postoperative electrocardiograms as well as postoperative atrial stimulation were obtained. The results showed that the median duration of TCHB was 5 days in the TCHB group compared with 9 days in the LCHB group (p = 0.01). All 37 subjects with TCHB recovered AVC within 12 days, but only two with LCHB did so (p = 0.02). The risk of LCHB for the patients with 7 days of postoperative TCHB or longer was 13 times greater than for the patients with fewer than 7 days of TCHB (p = 0.01). The median late postoperative PR interval was slightly but significantly longer in the LCHB group than in the TCHB group (p = 0.02). In contrast, the electrophysiologic properties between the two groups did not differ significantly. From those findings, we concluded that delayed recovery of AVC after surgical TCHB (≥7 days), but not electrophysiologic properties of recovered AVC assessed early in the postoperative period strongly, predicts risk of LCHB. Follow-up evaluation of AVC is particularly indicated for the delayed recovery group.

  2. Anti-SSA/Ro antibodies and the heart: more than complete congenital heart block? A review of electrocardiographic and myocardial abnormalities and of treatment options

    PubMed Central

    Costedoat-Chalumeau, Nathalie; Amoura, Zahir; Villain, Elisabeth; Cohen, Laurence; Piette, Jean-Charles

    2005-01-01

    Apart from complete and incomplete congenital heart block (CHB), new cardiac manifestations related to anti-SSA/Ro antibodies have been reported in children born to mothers bearing these antibodies. These manifestations include transient fetal first-degree heart block, prolongation of corrected QT (QTc) interval, sinus bradycardia, late-onset cardiomyopathy, endocardial fibroelastosis and cardiac malformations. Anti-SSA/Ro antibodies are not considered pathogenic to the adult heart, but a prolongation of the QTc interval has recently been reported in adult patients and is still a matter of debate. Treatment of CHB is not well established and needs to be assessed carefully. The risks and benefits of prenatal fluorinated steroids are discussed. PMID:15743492

  3. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.

    PubMed

    Vincent, Ajoy; Wright, Tom; Day, Megan A; Westall, Carol A; Héon, Elise

    2011-01-01

    To report, for the first time, that X-linked incomplete congenital stationary night blindness (CSNB2A) and Åland island eye disease (AIED) phenotypes coexist in a molecularly confirmed pedigree and to present novel phenotypic characteristics of calcium channel alpha-1F subunit gene (CACNA1F)-related disease. Two affected subjects (the proband and his maternal grandfather) and an unaffected obligate carrier (the proband's mother) underwent detailed ophthalmological evaluation, fundus autofluorescence imaging, and spectral-domain optical coherence tomography. Goldmann visual field assessment and full-field electroretinogram (ERG) were performed in the two affected subjects, and multichannel flash visual evoked potential was performed on the proband. Scotopic 15 Hz flicker ERG series were performed in both affected subjects to evaluate the function of the slow and fast rod pathways. Haplotype analysis using polymorphic microsatellite markers flanking CACNA1F was performed in all three family members. The proband's DNA was sequenced for mutations in the coding sequence of CACNA1F and nyctalopin (NYX) genes. Segregation analysis was performed in the family. Both affected subjects had symptoms of nonprogressive nyctalopia since childhood, while the proband also had photophobia. Both cases had a distance visual acuity of 20/50 or better in each eye, normal contrast sensitivity, and an incomplete type of Schubert-Bornschein ERGs. The proband also had high myopia, a mild red-green color deficit, hypopigmented fundus, and foveal hypoplasia with no evidence of chiasmal misrouting. Spectral-domain optical coherence tomography confirmed the presence of foveal hypoplasia in the proband. The clinical phenotype of the proband and his maternal grandfather fit the clinical description of AIED and CSNB2A, respectively. The fundus autofluorescence and the visual fields were normal in both cases; the scotopic 15 Hz flicker ERG demonstrated only fast rod pathway activity in both. Both

  4. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

    Leber's congenital amaurosis is an autosomal recessive disorder, characterized by the onset of blindness before the age of 6 months, a variable fundus aspect and an absent or extremely pathological ERG. The disorder may be isolated or associated with systemic involvement, such as nephronophtisis (Senior-Loken syndrome), nephronophtisis, cone-shaped epiphyses of the hand and cerebellar ataxia (Saldino-Mainzer syndrome), vermis hypoplasia, oculomotor anomalies and respiratory problems in the neonatal period (Joubert syndrome) or cardiomyopathy. It should be differentiated from other forms or chorioretinal dystrophies (juvenile retinitis pigmentosa or congenital stationary night blindness), cortical blindness or maturation delay and metabolic disorders. Children with possible congenital Leber amaurosis should not only have a thorough ophthalmological examination, but should also be seen by a paediatrician experienced in metabolic disorders.

  5. Normal neuropsychological development in children with congenital complete heart block who may or may not be exposed to high-dose dexamethasone in utero.

    PubMed

    Brucato, A; Astori, M G; Cimaz, R; Villa, P; Li Destri, M; Chimini, L; Vaccari, R; Muscarà, M; Motta, M; Tincani, A; Neri, F; Martinelli, S

    2006-11-01

    Antenatal and postnatal treatment with dexamethasone (DEX) may negatively affect the neuropsychological development in children. Maternal anti-Ro/Sjögren's syndrome A (SSA) antibodies may also be associated with learning disabilities in offspring. To assess neuropsychological development in babies exposed to very high dosages of DEX in utero, whose mothers were anti-Ro/SSA positive. 13 children with congenital complete heart block (CHB) (11 exposed and 2 not exposed to DEX) and 3 healthy siblings, all of anti-Ro/SSA-positive women, were evaluated. 11 preschool-aged children (5 boys) were assessed using Griffiths Mental Development Scales. 5 school-aged children (2 boys) were examined using Wechsler Intelligence Scale for Children-Revised to check IQ and reading tests to explore the existence of learning disabilities or dyslexia. None of the children had had major neonatal complications, although those with CHB had to be paced at different intervals from birth. The children had been exposed in utero to a mean total dose of 186.6 mg DEX. IQ levels were always normal (mean IQ 105.1, standard deviation (SD) 9.5). Only one child had a learning disability, of borderline clinical significance, but this child had never been exposed to DEX. No negative effects were found on the neuropsychological development in this cohort of children, even if they had been exposed to maternal anti-Ro/SSA antibodies and to very high dosages of DEX (much higher than those used to improve fetal lung maturity). These findings might be of interest in view of the large number of infants exposed in the past to repeated antenatal courses of steroids.

  6. Long-term results of treatment of congenital idiopathic clubfoot in 187 feet: outcome of the functional "French" method, if necessary completed by soft-tissue release.

    PubMed

    Rampal, Virginie; Chamond, Caroline; Barthes, Xavier; Glorion, Christophe; Seringe, Raphael; Wicart, Philippe

    2013-01-01

    Two main options for treatment of congenital idiopathic clubfoot are the "French" functional method and the Ponseti method. The goal of this article was to evaluate the results of the functional treatment method, which, if necessary, is completed by a surgical release. A series of 187 feet (129 patients) underwent functional conservative treatment. At first evaluation, the feet were classified according to the classification of Dimeglio. All patients then underwent daily physiotherapy and splintage, which was progressively stopped during childhood. Among these 187 feet, 85 feet (45.5%) required soft-tissue release to correct the remaining deformity. Surgery, when required, consisted of a complete posterolateral and medial release procedure, combined with a lengthening of the tibialis anterior tendon in most cases and a bony lateral procedure in case of forefoot adduction. At the latest follow-up (14.7 y; range, 7.4 to 23 y), results were "good" or "very good" in almost 98% of feet, according to the Ghanem and Seringe score. Severe feet at first consultation showed a worse result and required surgery more often than did the less severe ones. Among nonoperated feet, very good results were found in 99% of feet, and none had a fair or bad result. The average age at surgery was 2.5 years. Feet operated upon had lower results compared with the others. At last follow-up, among the operated feet, the results were excellent or good in 95% of the feet. The results were fair or bad in 4 cases; all 4 feet had been operated upon more than once. The results were not statistically dependent on age at the time of surgery, but feet operated upon before the age of 2 years had statistically more flattening of the talar dome and subtalar stiffness. The functional treatment of clubfoot leads to a very good result without the need for surgery in more than half of the patients. The initial severity of the feet is the main factor that influences the final result. The rate of feet not

  7. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  8. Congenital Hypothyroidism

    MedlinePlus

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  9. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

    Congenital hemangiomas are rare solitary vascular tumors that do not proliferate after birth. They are characterized as either rapidly involuting congenital hemangiomas (RICHs) or noninvoluting congenital hemangiomas (NICHs) based on their clinical progression. NICHs have no associated complications, but are persistent. RICH, while usually asymptomatic, may ulcerate or bleed early in their presentation, but involute quickly during the first few months of life. Hepatic RICHs are not associated with cutaneous RICHs, but may result in high-output cardiac failure due to arteriovenous or portovenous shunting. In the following review, the clinical characteristics and current management specific to congenital hemangiomas is discussed.

  10. Congenital abnormalities and multiple sclerosis.

    PubMed

    Ramagopalan, Sreeram V; Guimond, Colleen; Criscuoli, Maria; Dyment, David A; Orton, Sarah-Michelle; Yee, Irene M; Ebers, George C; Sadovnick, Dessa

    2010-11-16

    There is a strong maternal parent-of-origin effect in determining susceptibility to multiple sclerosis (MS). One hypothesis is that an abnormal intrauterine milieu leading to impaired fetal development could plausibly also result in increased susceptibility to MS. A possible marker for this intrauterine insult is the presence of a non-fatal congenital anomaly. We investigated whether or not congenital anomalies are associated with MS in a population-based cohort. We identified 7063 MS index cases and 2655 spousal controls with congenital anomaly information from the Canadian Collaborative Project on Genetic Susceptibility to MS (CCPGSMS). The frequency of congenital anomalies were compared between index cases and controls. No significant differences were found. Congenital anomalies thus do not appear to be associated with MS. However, we did not have complete data on types and severity of congenital anomalies or on maternal birth history and thus this study should be regarded as preliminary.

  11. Time scale of stationary decoherence

    NASA Astrophysics Data System (ADS)

    Polonyi, Janos

    2017-07-01

    The decoherence of a test particle interacting with an ideal gas is studied by the help of the effective Lagrangian, derived in the leading order of the perturbation expansion and in order O (∂t2) . The stationary decoherence time is found to be comparable to or longer than the diffusion time. The decoherence time reaches its minimal value for classical, completely decohered environment, suggesting that physical decoherence is slowed down as compared with diffusion by the quantum coherence of the environment.

  12. Congenital nystagmus and negative electroretinography

    PubMed Central

    Roussi, Mirella; Dalens, Hélène; Marcellier, Jean Jacques; Bacin, Franck

    2011-01-01

    Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17–18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina. PMID:21573087

  13. Congenital tracheobronchial stenosis.

    PubMed

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  15. Congenital cytomegalovirus

    MedlinePlus

    ... Churchill Livingstone; 2014:chap 140. Swanson EC. Congenital cytomegalovirus infection: new prospects for prevention and therapy. Pediatr Clin ... and the A.D.A.M. Editorial team. Cytomegalovirus Infections Read more Latest Health News Read more Health ...

  16. Congenital cataract

    MedlinePlus

    ... Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ... Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology . 16th ed. Philadelphia, PA: Lippincott ...

  17. Congenital syphilis

    MedlinePlus

    Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... Saunders; 2014:chap 143. Duff P. Maternal and fetal infections. In: Creasy RK, Resnik R, Iams JD, ...

  18. Congenital Abnormalities

    MedlinePlus

    ... while you are pregnant. Combination of Genetic and Environmental Problems Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of ...

  19. Congenital ptosis.

    PubMed

    SooHoo, Jeffrey R; Davies, Brett W; Allard, Felicia D; Durairaj, Vikram D

    2014-01-01

    Congenital blepharoptosis presents within the first year of life either in isolation or as a part of many different ocular or systemic disorders. Surgical repair is challenging, and recurrence necessitating more than one operation is not uncommon. Not all patients with congenital ptosis require surgery, but children with amblyopia due to astigmatic anisometropia or deprivation may benefit from early surgical correction. A variety of surgical procedures to correct congenital ptosis have been described. The choice of procedure depends on a number of patient-specific factors, such as degree of ptosis and levator function, as well as surgeon preference and resource availability. We review the genetics, associated syndromes, and surgical treatments of congenital ptosis. Copyright © 2014 Elsevier Inc. All rights reserved.

  20. [Congenital diarrhoea].

    PubMed

    Buda, Piotr; Friedman-Gruszczyńska, Joanna; Książyk, Janusz

    2011-01-01

    Congenital diarrhoea of heterogenic etiology is a rare cause of chronic diarrhoea. Characteristic features are: onset in the first weeks of life, life-threatening severe dehydratation and electrolyte disorders leading to a necessity of long-term parenteral nutrition. The clinical onset may be delayed and the degree of diarrhoea may be modest, making the diagnosis difficult. The main causes of congenital diarrhoea such as intestine electrolytes, carbohydrates, lipid and protein transport disorders and congenital enzymatic deficiencies, enterocyte polarization disorders, hormonal, immunological, metabolic, genetic and congenital anatomic disorders are presented in the paper. Some of them, such as: microvillus inclusion disease, tufting enteropathy, intestinal anedocrynosis, IPEX syndrome (immunodysregulation polyendocrinopathy enteropathy X-linked syndrome) have been described recently. One of the basic investigations, when congenital diarrhea is suspected, is general examination of the stool, its electrolyte concentration and serum electrolytes and blood gas analysis. Often, small bowel biopsy with histological examination (with the use of electronic microscopy and PAS staining) is indicated. In some cases molecular examination is possible and indicated. In differential diagnosis other, more frequent causes of chronic diarrhea of infancy, have to be excluded. In most of the cases of congenital diarrhoea there is no casual treatment available - usually long-term parenteral nutrition is necessary.

  1. In-Hospital Vital Status and Heart Transplants After Intervention for Congenital Heart Disease in the Pediatric Cardiac Care Consortium: Completeness of Ascertainment Using the National Death Index and United Network for Organ Sharing Datasets.

    PubMed

    Spector, Logan G; Menk, Jeremiah S; Vinocur, Jeffrey M; Oster, Matthew E; Harvey, Brian A; St Louis, James D; Moller, James; Kochilas, Lazaros K

    2016-08-09

    The long-term outcomes of patients undergoing interventions for congenital heart disease (CHD) remain largely unknown. We linked the Pediatric Cardiac Care Consortium (PCCC) with the National Death Index (NDI) and the United Network for Organ Sharing Dataset (UNOS) registries to study mortality and transplant occurring up to 32 years postintervention. The objective of the current analysis was to determine the sensitivity of this linkage in identifying patients who are known to have died or undergone heart transplant. We used direct identifiers from 59 324 subjects registered in the PCCC between 1982 and 2003 to test for completeness of case ascertainment of subjects with known vital and heart transplant status by linkage with the NDI and UNOS registries. Of the 4612 in-hospital deaths, 3873 were identified by the NDI as "true" matches for a sensitivity of 84.0% (95% CI, 82.9-85.0). There was no difference in sensitivity across 25 congenital cardiovascular conditions after adjustment for age, sex, race, presence of first name, death year, and residence at death. Of 455 known heart transplants in the PCCC, there were 408 matches in the UNOS registry, for a sensitivity of 89.7% (95% CI, 86.9-92.3). An additional 4851 deaths and 363 transplants that occurred outside the PCCC were identified through 2014. The linkage of the PCCC with the NDI and UNOS national registries is feasible with a satisfactory sensitivity. This linkage provides a conservative estimate of the long-term death and heart transplant events in this cohort. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

  2. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

    Congenital torticollis is a very common postural deformity, characterized by a more or less severe retraction of sternocleidomastoid muscle. Any treatment, else that "good sense" counsels given to the parents, is indicated. The evolution is spontaneously favorable in the majority of cases before the age of one year old. The elimination of differential diagnosis (vertebral and/or neurological malformations, ocular, tumor) is the key-point. Screening of congenital hip dislocation is mandatory because the physiopathology is the same in both diseases. A remaining torticolis after 18 months of age may be an indication to sternocleidomastoid muscle lengthening.

  3. Stationary states in quantum walk search

    NASA Astrophysics Data System (ADS)

    PrÅ«sis, Krišjānis; Vihrovs, Jevgěnijs; Wong, Thomas G.

    2016-09-01

    When classically searching a database, having additional correct answers makes the search easier. For a discrete-time quantum walk searching a graph for a marked vertex, however, additional marked vertices can make the search harder by causing the system to approximately begin in a stationary state, so the system fails to evolve. In this paper, we completely characterize the stationary states, or 1-eigenvectors, of the quantum walk search operator for general graphs and configurations of marked vertices by decomposing their amplitudes into uniform and flip states. This infinitely expands the number of known stationary states and gives an optimization procedure to find the stationary state closest to the initial uniform state of the walk. We further prove theorems on the existence of stationary states, with them conditionally existing if the marked vertices form a bipartite connected component and always existing if nonbipartite. These results utilize the standard oracle in Grover's algorithm, but we show that a different type of oracle prevents stationary states from interfering with the search algorithm.

  4. Tracheomalacia - congenital

    MedlinePlus

    ... are floppy. Because the windpipe is the main airway, breathing difficulties begin soon after birth. Congenital tracheomalacia is very uncommon. Symptoms Symptoms can range from mild to severe, and may include: Breathing noises that may change with position and improve during ...

  5. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  6. [Congenital epulis].

    PubMed

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  7. Congenital amusias.

    PubMed

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap."

  8. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  9. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2016-08-01

    replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia leads to a higher rate of accumulation of...congenital neutropenia. We hypothesize that replicative stress and/or changes in the bone marrow microenvironment in patients with congenital neutropenia...Research Projection Office (Time frame 1-3 months; completed). DoD approval has been obtained. 1c. Obtain human blood or bone marrow samples from

  10. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

    The management of congenital scoliosis requires a systematic approach with careful attention to detail. Any fortuitous diagnosis of vertebral anomalies in infancy, even if there is no significant scoliosis at that time on x-ray, requires frequent clinical and radiographic follow-up to detect progression. The presence of associated anomalies of the spinal cord, the kidneys and the heart should be evaluated by MRI, renal ultrasound or IVP, with cardiology evaluation as indicated. Curve progression or severe vertebral anomalies known to cause curve progression require immediate treatment to prevent deformity. Significant thoracic deformity, especially in a patient with thoracic insufficiency syndrome, is best treated with expansion thoracoplasty. The patient with congenital scoliosis requires a long term commitment to care with frequent orthopaedic follow-up throughout the growing years along with routine pulmonary function assessment once the patient is able to cooperate with testing.

  11. [Congenital hydrocephalus].

    PubMed

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

  12. [Congenital ranula].

    PubMed

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  13. Congenital Hydrocephalus.

    PubMed

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  14. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  15. Congenital omental cyst

    PubMed Central

    Gupta, Rakesh Kumar; Sah, Suresh; Sah, Panna Lal; Shah, Birendra Prasad

    2012-01-01

    Congenital omental cysts are rare intra-abdominal pathology, which are difficult to diagnose preoperatively; as such a high index of suspicion is required for accurate preoperative diagnosis. We present a case of congenital omental cyst in a 3-year-old girl who presented with huge abdominal distension. We performed diagnostic examinations including ultrasonography and CT of the abdomen. An omental cyst was diagnosed because of its position and connection to the surrounding tissues. She was operated and cyst was excised completely. Histological examination revealed an omental cyst with endothelial lining and haemorrhagic fluid inside. She had an uneventful recovery and doing well, without recurrence at follow-up of 24 months. Clinicians must rigorously pursue a preoperative diagnosis, as it may prevent a surprise upon laparotomy and result in proper management. PMID:22865812

  16. Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis.

    PubMed

    Lambert, S R; Kriss, A; Taylor, D; Coffey, R; Pembrey, M

    1989-06-15

    We reexamined 75 children in whom Leber's congenital amaurosis had been previously diagnosed. On review, 30 of these patients had an ocular or systemic disorder other than Leber's congenital amaurosis. The most common of these revised diagnoses were congenital stationary night blindness, achromatopsia, infantile-onset retinitis pigmentosa, Joubert's syndrome, Zellweger syndrome, and infantile Refsum's disease. Of the 45 patients with Leber's congenital amaurosis, mental retardation occurred in six patients, and visual deterioration in six patients. Leber's congenital amaurosis should only be diagnosed if other known ocular and systemic disorders have been carefully excluded.

  17. Cosmological redshift in the stationary Seeliger-Einstein universe

    NASA Astrophysics Data System (ADS)

    Kropotkin, P. N.

    It is argued that the Seeliger-Einstein stationary cosmological model should not yet be ruled out. The need for a more complete investigation and comparsion of mechanisms proposed for the explanation of photon aging is emphasized.

  18. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

    Over the past decade, amniotic fluid-derived stem cells have emerged as a novel, experimental approach for the treatment of a wide variety of congenital anomalies diagnosed either in utero or postnatally. There are a number of unique properties of amniotic fluid stem cells that have allowed it to become a major research focus. These include the relative ease of accessing amniotic fluid cells in a minimally invasive fashion by amniocentesis as well as the relatively rich population of progenitor cells obtained from a small aliquot of fluid. Mesenchymal stem cells, c-kit positive stem cells, as well as induced pluripotent stem cells have all been derived from human amniotic fluid in recent years. This article gives a pediatric surgeon’s perspective on amniotic fluid stem cell therapy for the management of congenital anomalies. The current status in the use of amniotic fluid-derived stem cells, particularly as they relate as substrates in tissue engineering-based applications, is described in various animal models. A roadmap for further study and eventual clinical application is also proposed. PMID:22986340

  19. Congenital Toxoplasmosis

    PubMed Central

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  20. Stationary black diholes

    NASA Astrophysics Data System (ADS)

    Manko, V. S.; Rabadán, R. I.; Sanabria-Gómez, J. D.

    2014-03-01

    In this paper, we present and analyze the simplest physically meaningful model for stationary black diholes—a binary configuration of counterrotating Kerr-Newman black holes endowed with opposite electric charges—elaborated in a physical parametrization on the basis of one of the Ernst-Manko-Ruiz equatorially antisymmetric solutions of the Einstein-Maxwell equations. The model saturates the Gabach-Clement inequality for interacting black holes with struts, and in the absence of rotation, it reduces to the Emparan-Teo electric dihole solution. The physical characteristics of each dihole constituent satisfy identically the well-known Smarr's mass formula.

  1. Genetics Home Reference: congenital insensitivity to pain

    MedlinePlus

    ... have a complete loss of the sense of smell (anosmia). Congenital insensitivity to pain is considered a ... to cells that detect sensations such as touch, smell, and pain. Related Information What does it mean ...

  2. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

    Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are over 40 different congenital protein hypoglycosylation diseases. This review will include defects of N-linked glycosylation, O-linked glycosylation and disorders of combined N- and O-linked glycosylation. PMID:23776380

  3. Ceramic stationary gas turbine

    SciTech Connect

    Roode, M. van

    1995-10-01

    The performance of current industrial gas turbines is limited by the temperature and strength capabilities of the metallic structural materials in the engine hot section. Because of their superior high-temperature strength and durability, ceramics can be used as structural materials for hot section components (blades, nozzles, combustor liners) in innovative designs at increased turbine firing temperatures. The benefits include the ability to increase the turbine inlet temperature (TIT) to about 1200{degrees}C ({approx}2200{degrees}F) or more with uncooled ceramics. It has been projected that fully optimized stationary gas turbines would have a {approx}20 percent gain in thermal efficiency and {approx}40 percent gain in output power in simple cycle compared to all metal-engines with air-cooled components. Annual fuel savings in cogeneration in the U.S. would be on the order of 0.2 Quad by 2010. Emissions reductions to under 10 ppmv NO{sub x} are also forecast. This paper describes the progress on a three-phase, 6-year program sponsored by the U.S. Department of Energy, Office of Industrial Technologies, to achieve significant performance improvements and emissions reductions in stationary gas turbines by replacing metallic hot section components with ceramic parts. Progress is being reported for the period September 1, 1994, through September 30, 1995.

  4. Ceramic stationary gas turbine

    SciTech Connect

    Roode, M. van

    1995-12-31

    The performance of current industrial gas turbines is limited by the temperature and strength capabilities of the metallic structural materials in the engine hot section. Because of their superior high-temperature strength and durability, ceramics can be used as structural materials for hot section components (blades, nozzles, combustor liners) in innovative designs at increased turbine firing temperatures. The benefits include the ability to increase the turbine inlet temperature (TIT) to about 1200{degrees}C ({approx}2200{degrees}F) or more with uncooled ceramics. It has been projected that fully optimized stationary gas turbines would have a {approx}20 percent gain in thermal efficiency and {approx}40 percent gain in output power in simple cycle compared to all metal-engines with air-cooled components. Annual fuel savings in cogeneration in the U.S. would be on the order of 0.2 Quad by 2010. Emissions reductions to under 10 ppmv NO{sub x} are also forecast. This paper describes the progress on a three-phase, 6-year program sponsored by the U.S. Department of Energy, Office of Industrial Technologies, to achieve significant performance improvements and emissions reductions in stationary gas turbines by replacing metallic hot section components with ceramic parts. Progress is being reported for the period September 1, 1994, through September 30, 1995.

  5. Multiple stationary solutions of an irradiated slab

    NASA Astrophysics Data System (ADS)

    Taylor, P. D.; Feltham, D. L.

    2005-04-01

    A mathematical model describing the heat budget of an irradiated medium is introduced. The one-dimensional form of the equations and boundary conditions are presented and analysed. Heat transport at one face of the slab occurs by absorption (and reflection) of an incoming beam of short-wave radiation with a fraction of this radiation penetrating into the body of the slab, a diffusive heat flux in the slab and a prescribed incoming heat flux term. The other face of the slab is immersed in its own melt and is considered to be a free surface. Here, temperature continuity is prescribed and evolution of the surface is determined by a Stefan condition. These boundary conditions are flexible enough to describe a range of situations such as a laser shining on an opaque medium, or the natural environment of polar sea ice or lake ice. A two-stream radiation model is used which replaces the simple Beer's law of radiation attenuation frequently used for semi-infinite domains. The stationary solutions of the governing equations are sought and it is found that there exists two possible stationary solutions for a given set of boundary conditions and a range of parameter choices. It is found that the existence of two stationary solutions is a direct result of the model of radiation absorption, due to its effect on the albedo of the medium. A linear stability analysis and numerical calculations indicate that where two stationary solutions exist, the solution corresponding to a larger thickness is always stable and the solution corresponding to a smaller thickness is unstable. Numerical simulations reveal that when there are two solutions, if the slab is thinner than the smaller stationary thickness it will melt completely, whereas if the slab is thicker than the smaller stationary thickness it will evolve toward the larger stationary thickness. These results indicate that other mechanisms (e.g. wave-induced agglomeration of crystals) are necessary to grow a slab from zero initial

  6. Stationary engineering handbook

    SciTech Connect

    Petrocelly, K.L.

    1989-01-01

    Years ago, the only qualifications you needed to become to become an operating engineer were the ability to shovel large chunks of coal through small furnace doors and the fortitude to sweat profusely for hours without fainting. As a consequence of technological evolution, the engineer's coal shovels have been replaced with computers and now perspiration is more the result of job stress than exposure to high temperatures. The domain of the operator has been extended far beyond the smoke-filled caverns that once encased him, out into the physical plant, and his responsibilities have been expanded accordingly. Unlike his less sophisticated predecessor, today's technician must be well versed in all aspects of the operation. The field of power plant operations has become a full-fledged profession and its principals are called Stationary Engineers. This book addresses the areas of responsibility and the education and skills needed for successful operation of building services equipment.

  7. Congenital hypothyroidism

    PubMed Central

    2010-01-01

    Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses) account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL) and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter. In general, the prognosis

  8. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

    Stoll, C; Dott, B; Alembik, Y; Koehl, C

    1999-01-01

    The French national neonatal screening program for congenital hypothyroidism (CH) was initiated in 1978. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with congenital hypothyroidism (CH) and to compare it with the Northeastern France Birth Defect Monitoring System data from 1979 to 1996. Among 129 CH infants on whom adequate data were available, 20 infants (15.5%) had associated congenital anomalies. Eight out of 76 infants with persistent CH had ETAs (10.5%) whereas 12 out of 53 children with transient hypothyroidism had ETAs (22.6%, p < 0.05). Some additional anomalies were considerably more common than in the general population. Nine infants had congenital cardiac anomalies (6.9%). This rises the question if teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETAs.

  9. Stationary Engineering Laboratory Manual--2.

    ERIC Educational Resources Information Center

    Steingress, Frederick M.; Frost, Harold J.

    The Stationary Engineering Laboratory Manual 2 was designed for vocational/technical high school students who have received instruction in the basics of stationary engineering. It was developed for students who will be operating a live plant and who will be responsible for supplying steam for heating, cooking, and baking. Each lesson in the manual…

  10. Stationary Engineering. Science Manual--2.

    ERIC Educational Resources Information Center

    Frost, Harold J.; Steingress, Frederick M.

    This second-year student manual contains 140 brief related science lessons applying science and math to trade activities in the field of stationary engineering. The lessons are organized into 16 units: (1) Introduction to Stationary Engineering, (2) Engineering Fundamentals, (3) Steam Boilers, (4) Boiler Fittings, (5) Boilerroom System, (6)…

  11. Congenital Heart Disease in Adults

    MedlinePlus

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  12. Congenital myopathies

    PubMed Central

    Colombo, Irene; Scoto, Mariacristina; Manzur, Adnan Y.; Robb, Stephanie A.; Maggi, Lorenzo; Gowda, Vasantha; Cullup, Thomas; Yau, Michael; Phadke, Rahul; Sewry, Caroline; Jungbluth, Heinz

    2015-01-01

    Objective: To assess the natural history of congenital myopathies (CMs) due to different genotypes. Methods: Retrospective cross-sectional study based on case-note review of 125 patients affected by CM, followed at a single pediatric neuromuscular center, between 1984 and 2012. Results: Genetic characterization was achieved in 99 of 125 cases (79.2%), with RYR1 most frequently implicated (44/125). Neonatal/infantile onset was observed in 76%. At birth, 30.4% required respiratory support, and 25.2% nasogastric feeding. Twelve percent died, mainly within the first year, associated with mutations in ACTA1, MTM1, or KLHL40. All RYR1-mutated cases survived and did not require long-term ventilator support including those with severe neonatal onset; however, recessive cases were more likely to require gastrostomy insertion (p = 0.0028) compared with dominant cases. Independent ambulation was achieved in 74.1% of all patients; 62.9% were late walkers. Among ambulant patients, 9% eventually became wheelchair-dependent. Scoliosis of variable severity was reported in 40%, with 1/3 of (both ambulant and nonambulant) patients requiring surgery. Bulbar involvement was present in 46.4% and required gastrostomy placement in 28.8% (at a mean age of 2.7 years). Respiratory impairment of variable severity was a feature in 64.1%; approximately half of these patients required nocturnal noninvasive ventilation due to respiratory failure (at a mean age of 8.5 years). Conclusions: We describe the long-term outcome of a large cohort of patients with CMs. While overall course is stable, we demonstrate a wide clinical spectrum with motor deterioration in a subset of cases. Severity in the neonatal/infantile period is critical for survival, with clear genotype-phenotype correlations that may inform future counseling. PMID:25428687

  13. Poissonian steady states: from stationary densities to stationary intensities.

    PubMed

    Eliazar, Iddo

    2012-10-01

    Markov dynamics are the most elemental and omnipresent form of stochastic dynamics in the sciences, with applications ranging from physics to chemistry, from biology to evolution, and from economics to finance. Markov dynamics can be either stationary or nonstationary. Stationary Markov dynamics represent statistical steady states and are quantified by stationary densities. In this paper, we generalize the notion of steady state to the case of general Markov dynamics. Considering an ensemble of independent motions governed by common Markov dynamics, we establish that the entire ensemble attains Poissonian steady states which are quantified by stationary Poissonian intensities and which hold valid also in the case of nonstationary Markov dynamics. The methodology is applied to a host of Markov dynamics, including Brownian motion, birth-death processes, random walks, geometric random walks, renewal processes, growth-collapse dynamics, decay-surge dynamics, Ito diffusions, and Langevin dynamics.

  14. [Genetics of congenital cardiopathies].

    PubMed

    Moreno García, M; Gómez Rodríguez, M J; Barreiro Miranda, E

    2000-07-01

    Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.

  15. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

    Margarit, J; Rodó, J; Costa, J M; Vives, E; Escorihuela, F; Cardesa, A; Ribalta, T

    1997-08-01

    We report two cases of congenital hemangiopericytoma localized in the abdominal wall in the first patient and scalp in the second. The treatment of both cases consisted in the complete resection of the tumor mass. Four and two years later the patients remain asymptomatic. The special interest in this case report lies in the extremely low incidence of congenital hemangiopericytoma and that this is the first reference to affected siblings.

  16. Congenital sensorineural hearing loss

    SciTech Connect

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  17. [Congenital ranula in a newborn].

    PubMed

    Bernhard, M K; Hückel, D; Hamala, D

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases.

  18. Congenital Absence of the Pericardium.

    PubMed

    Lopez, David; Asher, Craig R

    Congenital absence of the pericardium (CAP) is one of the rarest cardiac congenital anomalies. It can occur as a complete absence of the entire pericardium, absence of the right or left portion of the pericardium or a partial, foramen-like defect of the right or left pericardium. While the majority of cases are clinically silent, multiple reports associate CAP with symptomatic presentation. The most feared complication of CAP is sudden death due to cardiac strangulation across a partial defect of the left pericardium. Given its rare occurrence, most clinicians and imaging specialists will have little experience with this condition and may fail to recognize it on thoracic or cardiac studies. Thus, the purpose of this review is to highlight the common clinical and multimodality imaging features associated with this anomaly and suggest a management algorithm. Copyright © 2016. Published by Elsevier Inc.

  19. Active Control of Stationary Vortices

    NASA Astrophysics Data System (ADS)

    Nino, Giovanni; Breidenthal, Robert; Bhide, Aditi; Sridhar, Aditya

    2016-11-01

    A system for active stationary vortex control is presented. The system uses a combination of plasma actuators, pressure sensors and electrical circuits deposited on aerodynamic surfaces using printing electronics methods. Once the pressure sensors sense a change on the intensity or on the position of the stationary vortices, its associated controller activates a set of plasma actuator to return the vortices to their original or intended positions. The forces produced by the actuators act on the secondary flow in the transverse plane, where velocities are much less than in the streamwise direction. As a demonstration case, the active vortex control system is mounted on a flat plate under low speed wind tunnel testing. Here, a set of vortex generators are used to generate the stationary vortices and the plasma actuators are used to move them. Preliminary results from the experiments are presented and compared with theoretical values. Thanks to the USAF AFOSR STTR support under contract # FA9550-15-C-0007.

  20. Recurrent congenital fibrosarcoma with heart metastases.

    PubMed

    Lohi, Olli; Vornanen, Martine; Kähkönen, Marketta; Vettenranta, Kim; Parto, Katriina; Arola, Mikko

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years.

  1. Capsule endoscopy findings in congenital afibrinogenemia-associated angiopathy.

    PubMed

    Katsinelos, P; Vasiliadis, T; Soufleris, K; Chatzimavroudis, G; Zavos, C; Paroutoglou, G; Katsinelos, T; Papaziogas, B; Kountouras, J

    2008-11-01

    Congenital afibrinogenemia is a rare genetic disorder characterized by the complete absence of functional fibrinogen. We report a 22-year-old female who developed nephrogenic arterial hypertension and intestinal ischemia due to congenital afibrinogenemia-associated angiopathy of large abdominal arteries. We describe, for the first time, the capsule findings and discuss the pathophysiology of this unusual condition.

  2. Cellulitis on face in a patient with congenital afibrinogenemia.

    PubMed

    Chandan, G D; Annaji, A G; Bhatnagar, S; Mohandas, U; Dave, P

    2011-01-01

    Congenital afibrinogenemia is a rare coagulation disorder, with an estimated prevalence of 1 : 1,000,000, characterized by a complete absence to reduced level of circulating fibrinogen. This article presents a case of congenital afibrinogenemia, which presented as cellulitis on the face.

  3. Nonequilibrium stationary states and entropy.

    PubMed

    Gallavotti, G; Cohen, E G D

    2004-03-01

    In transformations between nonequilibrium stationary states, entropy might not be a well defined concept. It might be analogous to the "heat content" in transformations in equilibrium which is not well defined either, if they are not isochoric (i.e., do involve mechanical work). Hence we conjecture that in a nonequilibrium stationary state the entropy is just a quantity that can be transferred or created, such as heat in equilibrium, but has no physical meaning as "entropy content" as a property of the system.

  4. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

    With increasing incrimination of viruses, plants, and drugs as causes of ovine congenital defects, concerted efforts are required to identify environmental teratogens. Expanding knowledge of congenital defects requires studying as many defective lambs as possible; recording and documenting; detailed diagnostic examinations; genetic analyses and chromosomal examinations, whenever possible; and field investigations. Adopting standardized classification, terminology, and diagnostic procedures should improve descriptions, diagnoses, and interdisciplinary exchange of information. That, in turn, should improve our knowledge of and diagnosis of congenital defects of sheep in the future. Finally, veterinary clinicians and diagnosticians are encouraged to take an interest in congenital defects and teratology.

  5. Metaphoric Car Drawings By a 12-Year-Old Congenitally Blind Girl.

    PubMed

    Chao, Hsin-Yi; Kennedy, John M

    2015-12-01

    A 12-year-old congenitally-blind girl drew a car moving, stationary, and braking. For stationary, she put the wheels inside the car and, for braking, drew the wheels as rough rectangles. At the age verbal metaphor is understood (Winner, 1988), the girl invented metaphoric drawings. In these, what is shown is not what is meant. In late childhood, metaphor may be understood similarly in pictures and words and by the sighted and blind.

  6. EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.

    PubMed

    Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

    2014-03-01

    An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases.

  7. Stationary measure in the multiverse

    SciTech Connect

    Linde, Andrei; Vanchurin, Vitaly; Winitzki, Sergei E-mail: vitaly@cosmos2.phy.tufts.edu

    2009-01-15

    We study the recently proposed ''stationary measure'' in the context of the string landscape scenario. We show that it suffers neither from the ''Boltzmann brain'' problem nor from the ''youngness'' paradox that makes some other measures predict a high CMB temperature at present. We also demonstrate a good performance of this measure in predicting the results of local experiments, such as proton decay.

  8. [Neonatal cutaneous hematopoiesis disclosing congenital rubella].

    PubMed

    Penouil, M H; Bressieux, J M; Mehaut, S; Hopfner, C

    1996-01-01

    Congenital rubella, which should disappear with widespread vaccination and mandatory obstetrical care, can occur as a purpuric eruption in the newborn. We report a case of blueberry muffin baby. An infant delivered after an "uneventful" pregnancy presented a generalized "purpuric" eruption and had axial hypotonia. Histology of a biopsy showed evidence of cutaneous erythropoiesis. The complete workup led to the diagnosis of congenital rubella. Cutaneous erythropoiesis is a well defined clinical and histological entity. There are several causes including infection and hematology disorders. Metastasis of a neuroblastoma, which must be eliminated by early biopsy, is the main differential diagnosis. Blueberry muffin rash is never idiopathic. The prognosis depends on the cause. Physicians should remember that congenital rubella has not yet been completely eradicated in France.

  9. Congenital heat disease

    SciTech Connect

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

  10. Congenital patellar syndrome.

    PubMed

    Jerome, J Terrence Jose; Varghese, M; Sankaran, B

    2009-01-01

    Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

  11. Multifocal Congenital Hemangiopericytoma.

    PubMed

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  12. Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors

    PubMed Central

    Tan, Mei Hong; Smith, Alexander J.; Pawlyk, Basil; Xu, Xiaoyun; Liu, Xiaoqing; Bainbridge, James B.; Basche, Mark; McIntosh, Jenny; Tran, Hoai Viet; Nathwani, Amit; Li, Tiansen; Ali, Robin R.

    2009-01-01

    Defects in the photoreceptor-specific gene encoding aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) are clinically heterogeneous and present as Leber Congenital Amaurosis, the severest form of early-onset retinal dystrophy and milder forms of retinal dystrophies such as juvenile retinitis pigmentosa and dominant cone-rod dystrophy. [Perrault, I., Rozet, J.M., Gerber, S., Ghazi, I., Leowski, C., Ducroq, D., Souied, E., Dufier, J.L., Munnich, A. and Kaplan, J. (1999) Leber congenital amaurosis. Mol. Genet. Metab., 68, 200–208.] Although not yet fully elucidated, AIPL1 is likely to function as a specialized chaperone for rod phosphodiesterase (PDE). We evaluate whether AAV-mediated gene replacement therapy is able to improve photoreceptor function and survival in retinal degeneration associated with AIPL1 defects. We used two mouse models of AIPL1 deficiency simulating three different rates of photoreceptor degeneration. The Aipl1 hypomorphic (h/h) mouse has reduced Aipl1 levels and a relatively slow degeneration. Under light acceleration, the rate of degeneration in the Aipl1 h/h mouse is increased by 2–3-fold. The Aipl1−/− mouse has no functional Aipl1 and has a very rapid retinal degeneration. To treat the different rates of degeneration, two pseudotypes of recombinant adeno-associated virus (AAV) exhibiting different transduction kinetics are used for gene transfer. We demonstrate restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1−/− mice using an AAV2/8 vector. We have thus established the potential of gene replacement therapy in varying rates of degeneration that reflect the clinical spectrum of disease. This is the first gene replacement study to report long-term rescue of a photoreceptor-specific defect and to demonstrate effective rescue of a rapid photoreceptor

  13. Congenital duplication of the larynx.

    PubMed

    Simpson, A I; Khanna, A; Stanton, A

    2014-06-01

    The larynx is an intricate structure serving three important functions in humans: it protects the lower respiratory airway, facilitates respiration and helps produce sound through a key role in phonation. We report the first published finding of congenital duplication of the larynx in a patient with previously cleared squamous cell carcinoma of the neck and a new diagnosis of squamous cell carcinoma of the lung. We describe the incidental finding of duplication of the larynx in a 62-year-old man with previously completely cleared squamous cell carcinoma of the neck, who presented with worsening dyspnoea. We also provide a brief overview of other published cases in which duplication of the vocal folds and epiglottis has been reported. Our patient experienced no symptoms related to this incidental finding of congenital duplication of the larynx. The first case of congenital duplication of the larynx is currently of academic interest only; however, the possible association with squamous cell carcinoma is postulated to raise awareness in clinicians who may observe further cases in the future.

  14. Idiopathic erythermalgia: a congenital disorder.

    PubMed

    Michiels, J J; van Joost, T; Vuzevski, V D

    1989-11-01

    Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

  15. [Congenital cataract: general review].

    PubMed

    Roche, O; Beby, F; Orssaud, C; Dupont Monod, S; Dufier, J L

    2006-04-01

    Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development. Genetic transmission is often found on the dominant autosomal mode. Diagnosis is based on a complete and detailed examination of the eye, often with general anaesthesia. This condition predisposes children to later, sometimes serious amblyopia. Different clinical aspects can be observed: from cataract with ocular and/or systemic anomalies to polymalformative syndrome, skeletal, dermatological, neurological, metabolic, and genetic or chromosomal diseases. A general systematic pediatric examination is necessary. Congenital cataract requires first and foremost early diagnosis and a search for all etiologies. Surgical treatment is adapted case by case but it has progressed with the quality of today's intraocular lenses even if systematic implantation continues to be debated. Life-long monitoring is absolutely necessary.

  16. Pool boiling from rotating and stationary spheres in liquid nitrogen

    NASA Technical Reports Server (NTRS)

    Cuan, Winston M.; Schwartz, Sidney H.

    1988-01-01

    Results are presented for a preliminary experiment involving saturated pool boiling at 1 atm from rotating 2 and 3 in. diameter spheres which were immersed in liquid nitrogen (LN2). Additional results are presented for a stationary, 2 inch diameter sphere, quenched in LN2, which were obtained utilizing a more versatile and complete experimental apparatus that will eventually be used for additional rotating sphere experiments. The speed for the rotational tests was varied from 0 to 10,000 rpm. The stationary experiments parametrically varied pressure and subcooling levels from 0 to 600 psig and from 0 to 50 F, respectively. During the rotational tests, a high speed photographic analysis was undertaken to measure the thickness of the vapor film surrounding the sphere. The average Nusselt number over the cooling period was plotted against the rotational Reynolds number. Stationary sphere results included local boiling heat transfer coefficients at different latitudinal locations, for various pressure and subcooling levels.

  17. Congenital anomalies associated with hypothyroidism.

    PubMed Central

    Bamforth, J S; Hughes, I; Lazarus, J; John, R

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities. PMID:3729532

  18. A stationary q-metric

    NASA Astrophysics Data System (ADS)

    Toktarbay, S.; Quevedo, H.

    2014-10-01

    We present a stationary generalization of the static $q-$metric, the simplest generalization of the Schwarzschild solution that contains a quadrupole parameter. It possesses three independent parameters that are related to the mass, quadrupole moment and angular momentum. We investigate the geometric and physical properties of this exact solution of Einstein's vacuum equations, and show that it can be used to describe the exterior gravitational field of rotating, axially symmetric, compact objects.

  19. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causing dyshormonogenesis. Genes associated with thyroid gland dysgenesis include the TSH receptor in non-syndromic congenital hypothyroidism, and Gsα and the thyroid transcription factors (TTF-1, TTF-2, and Pax-8), associated with different complex syndromes that include congenital hypothyroidism. Among those causing dyshormonogenesis, the thyroid peroxidase and thyroglobulin genes were initially described, and more recently PDS (Pendred syndrome), NIS (sodium iodide symporter), and THOX2 (thyroid oxidase 2) gene defects. There is also early evidence for a third group of congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae. This review focuses on the genetic aspects of primary congenital hypothyroidism. PMID:15863666

  20. Giant congenital melanocytic nevus.

    PubMed

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion.

  1. Giant congenital melanocytic nevus*

    PubMed Central

    Viana, Ana Carolina Leite; Gontijo, Bernardo; Bittencourt, Flávia Vasques

    2013-01-01

    Giant congenital melanocytic nevus is usually defined as a melanocytic lesion present at birth that will reach a diameter ≥ 20 cm in adulthood. Its incidence is estimated in <1:20,000 newborns. Despite its rarity, this lesion is important because it may associate with severe complications such as malignant melanoma, affect the central nervous system (neurocutaneous melanosis), and have major psychosocial impact on the patient and his family due to its unsightly appearance. Giant congenital melanocytic nevus generally presents as a brown lesion, with flat or mammilated surface, well-demarcated borders and hypertrichosis. Congenital melanocytic nevus is primarily a clinical diagnosis. However, congenital nevi are histologically distinguished from acquired nevi mainly by their larger size, the spread of the nevus cells to the deep layers of the skin and by their more varied architecture and morphology. Although giant congenital melanocytic nevus is recognized as a risk factor for the development of melanoma, the precise magnitude of this risk is still controversial. The estimated lifetime risk of developing melanoma varies from 5 to 10%. On account of these uncertainties and the size of the lesions, the management of giant congenital melanocytic nevus needs individualization. Treatment may include surgical and non-surgical procedures, psychological intervention and/or clinical follow-up, with special attention to changes in color, texture or on the surface of the lesion. The only absolute indication for surgery in giant congenital melanocytic nevus is the development of a malignant neoplasm on the lesion. PMID:24474093

  2. High efficiency stationary hydrogen storage

    SciTech Connect

    Hynek, S.; Fuller, W.; Truslow, S.

    1995-09-01

    Stationary storage of hydrogen permits one to make hydrogen now and use it later. With stationary hydrogen storage, one can use excess electrical generation capacity to power an electrolyzer, and store the resultant hydrogen for later use or transshipment. One can also use stationary hydrogen as a buffer at fueling stations to accommodate non-steady fueling demand, thus permitting the hydrogen supply system (e.g., methane reformer or electrolyzer) to be sized to meet the average, rather than the peak, demand. We at ADL designed, built, and tested a stationary hydrogen storage device that thermally couples a high-temperature metal hydride to a phase change material (PCM). The PCM captures and stores the heat of the hydriding reaction as its own heat of fusion (that is, it melts), and subsequently returns that heat of fusion (by freezing) to facilitate the dehydriding reaction. A key component of this stationary hydrogen storage device is the metal hydride itself. We used nickel-coated magnesium powder (NCMP) - magnesium particles coated with a thin layer of nickel by means of chemical vapor deposition (CVD). Magnesium hydride can store a higher weight fraction of hydrogen than any other practical metal hydride, and it is less expensive than any other metal hydride. We designed and constructed an experimental NCM/PCM reactor out of 310 stainless steel in the form of a shell-and-tube heat exchanger, with the tube side packed with NCMP and the shell side filled with a eutectic mixture of NaCL, KCl, and MgCl{sub 2}. Our experimental results indicate that with proper attention to limiting thermal losses, our overall efficiency will exceed 90% (DOE goal: >75%) and our overall system cost will be only 33% (DOE goal: <50%) of the value of the delivered hydrogen. It appears that NCMP can be used to purify hydrogen streams and store hydrogen at the same time. These prospects make the NCMP/PCM reactor an attractive component in a reformer-based hydrogen fueling station.

  3. Complete thoracic ectopia cordis.

    PubMed

    Alphonso, N; Venugopal, P S; Deshpande, R; Anderson, D

    2003-03-01

    Thoracic ectopia cordis is a rare congenital defect with very few reported survivors after surgical correction. We report a case of complete thoracic ectopia cordis with double outlet right ventricle. The diagnosis was established antenatally and a repair was undertaken soon after birth. The child remained stable and was extubated on the fifth post-operative day. Forty-eight hours later the child succumbed to an unexplained respiratory arrest. Also presented is a review of the different surgical strategies for this unusual condition.

  4. Congenital nephrotic syndrome

    MedlinePlus

    ... may be high. There may be signs of malnutrition. A urinalysis reveals fat and large amounts of ... The disorder often leads to infection, malnutrition, and kidney failure. ... die within the first year. Congenital nephrotic syndrome ...

  5. Giant congenital nevus

    MedlinePlus

    ... A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. It is ... rare. Symptoms A nevus will appear as a dark-colored patch with any of the following: Brown ...

  6. Congenital Heart Information Network

    MedlinePlus

    ... Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright ©1996 - 2016 C.H.I.N. All rights reserved TX4-390-685 Original site design and HTML by Panoptic Communications

  7. [Molecular-genetic aspects of congenital hypothyroidism].

    PubMed

    Lacka, Katarzyna; Ogrodowicz, Agnieszka

    2004-01-01

    Congenital hypothyroidism manifests a complex of symptoms caused by a total lack or significant deficiency of thyroxine (T4) and triiodothyronine (T3) in foetal life and in the first years of child's life. The incidence of congenital hypothyroidism is 1 per 3000-4000 newborns in the world and l per 4800 in Poland. There are two main causes of congenital hypothyroidism: defects of thyroid development (about 90%), defects of thyroid hormones biosynthesis (~10%), and the more seldom occurring defects of the TBG proteins (thyroxine binding globulin) or resistance. syndrome to thyroid hormones. Defects of thyroid gland development include ectopia, hypoplasia or complete lack of the thyroid (athyreosis). These defects are caused by immunological, factors, drugs as well as genetic factors such as: TSH receptor gene or thyroid transcription factors: PAX 8. TTF l, TTF 2, Pit 1, Prop 1. Defects of thyroid hormones biosynthesis are inherited as autosomal recessive. There are 5 main defects of thyroid hormones biosynthesis: iodide transport (mutation of hNIS gene), iodine oxygenation (mutation of TPO, THOX, PDS genes), the iodination of the tyrosine of thyroglobulin and their conjunction (the mutation of TPO TG, PDS genes), the hydrolysis of the T3 and T4 as well as deiodination. Searching molecular-genetic basis of congenital hypothyroidism may improve its diagnostics, make possible to introduce genetic examination among patients with congenital hypothyroidism and their family members and may make gene therapy possible in the future.

  8. [Evaluation of congenital heart disease in adults].

    PubMed

    Oliver Ruiz, José María; Mateos García, Marta; Bret Zurita, Montserrat

    2003-06-01

    Improvements in the diagnosis and surgical treatment of congenital heart disease during infancy and childhood have resulted in an outstanding increase in the prevalence of these entities during adulthood. Congenital heart disease in the adult represents a new diagnostic challenge to the consultant cardiologist, unfamiliar with the anatomical and functional complexities of cardiac malformations. Assessment of adult congenital heart disease with imaging techniques can be as accurate as in children. However, these techniques cannot substitute for a detailed clinical assessment. Physical examination, electrocardiography and chest x-rays remain the three main pillars of bedside diagnosis. Transthoracic echocardiography is undoubtedly the imaging technique which provides most information, and in many situations no additional studies are needed. Nevertheless, ultrasound imaging properties in adults are not as favorable as in children, and prior surgical procedures further impair image quality. Despite recent advances in ultrasound technologies such as harmonic or contrast imaging, other diagnostic procedures are sometimes required. Fortunately, transesophageal echocardiography and magnetic resonance imaging are easily performed in the adult, and do not require anaesthetic support, in contrast to pediatric patients. These techniques, together with nuclear cardiology and cardiac catheterization, complete the second tier of diagnostic techniques for congenital heart disease. To avoid unnecessary repetition of diagnostic procedures, the attending cardiologist should choose the sequence of diagnostic techniques carefully; although the information this yields is often redundant, it is also frequently complementary. This article aims to compare the diagnostic utility of different imaging techniques in adult patients with congenital heart disease, both with and without prior surgical repair.

  9. Unexpected Complete Heart Block and Anesthetic Implications.

    PubMed

    Torres, Arturo G

    2015-08-01

    A healthy, active duty military 25-year-old female with a history of congenital complete heart block presented for a routine septorhinoplasty. During the preoperative interview, she did not disclose her heart condition. A preordered electrocardiogram was not available. During induction of anesthesia, she became extremely bradycardic, approaching asystole, requiring resuscitation. This case highlights the potential anesthetic risks in individuals with a history of congenital heart rhythm disease.

  10. Differential Protein Expression in Congenital and Acquired Cholesteatomas

    PubMed Central

    Kim, Sung Huhn; Choi, Jae Young

    2015-01-01

    Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D) electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS) to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5–3), plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5–3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5–3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins may differ

  11. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    PubMed Central

    Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  12. Congenital symmastia revisited.

    PubMed

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans E; Bonde, Christian

    2012-12-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient. Congenital symmastia was identified as a distinct deformation using a review of the literature and a theoretical model. We analysed the malady using a three-step principle, formulated by Blondeel, which describes the breast as a 'footprint', 'conus' and 'skin-envelope'. To date, few papers on congenital symmastia have been published, most of which focus on the application of various surgical approaches. We examined the literature and evaluated the procedures used, and are presenting two recent cases of congenital symmastia as examples. By combining review and analysis we offer a rational treatment practice. The analysis showed that the optimal treatment begins by correcting the 'footprint', removing the excess 'conus' over the sternum, and finally reattaching the 'skin-envelope' to the sternum to recreate the normal medial border of the 'footprint'. Thus far, the two most common approaches used to treat congenital symmastia are: reduction mammaplasty and liposuction. By combining the Blondeel analysis with a procedural review, we developed a flow chart to offer a possible treatment practice. Copyright © 2012 British Association of Plastic, Reconstructive and Aesthetic Surgeons. Published by Elsevier Ltd. All rights reserved.

  13. Modeling of Stationary and Non-stationary Corona Discharges and Comparison with Laboratory Measurements

    NASA Astrophysics Data System (ADS)

    Pasko, V. P.; Jansky, J.

    2016-12-01

    The time dynamics of ion corona emitted by point electrodes under application of modest electric fields (typically approximately 0.2-1 kV/cm under thunderstorm conditions) can significantly affect the electric field distribution and subsequent gas discharge phenomenology. In particular, spark and lightning discharges can be completely prevented by the corona unless a sharp electrode is introduced relatively quickly in high field region [e.g., Brook et al., JGR, 66, 3967, 1961]. The related dynamics are fundamental to artificial initiation of lightning using small rockets trailing thin wires [e.g., Rakov and Uman, Lightning Physics and Effects, 2003, Chapter 7 and references therein]. The goal of the present work is to quantitatively test and validate the corona model presently under development at Penn State [Tucker and Pasko, Abstract AE22B-02 presented at 2012 Fall Meeting, AGU, San Francisco, Calif., 3-7 Dec. 2012, and references therein] against available experimental data. The model uses an implicit numerical scheme for time integration and employs effective non-uniform grid system allowing very accurate description of non-stationary and stationary coronas emitted by sharp points with sub-millimeter dimensions. Specifically, we report: (1) results of comparisons with laboratory experiments of Moore et al. [J. Appl. Meteorol., 39, 593, 2000] where corona was produced by 141 mm high brass electrodes with tip radii of 0.0625, 0.125, 0.25, and 0.5 mm under application of electric field in the range from 0.2 to 1 kV/cm, and (2) results of tests when a sharp electrode is exposed to high fields on time scale of approximately 10 ms (resembling introduction of fine wire with speed 20 m/s and spark discharge as reported in [Brook et al., 1961]) and on time scale of approximately 1 s (resembling quasi-stationary presence of wire and no spark discharge in [Brook et al., 1961]).

  14. Congenital malaria in China.

    PubMed

    Tao, Zhi-Yong; Fang, Qiang; Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-03-01

    Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured with antimalarial drugs such as chloroquine

  15. Congenital Malaria in China

    PubMed Central

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  16. Killing tensors in stationary and axially symmetric space-times

    NASA Astrophysics Data System (ADS)

    Vollmer, Andreas

    2017-05-01

    We discuss the existence of Killing tensors for certain (physically motivated) stationary and axially symmetric vacuum space-times. We show nonexistence of a nontrivial Killing tensor for a Tomimatsu-Sato metric (up to valence 7), for a C-metric (up to valence 9) and for a Zipoy-Voorhees metric (up to valence 11). The results are obtained by mathematically completely rigorous, nontrivial computer algebra computations with a huge number of equations involved in the problem.

  17. Genetics of Congenital Cataract.

    PubMed

    Pichi, Francesco; Lembo, Andrea; Serafino, Massimiliano; Nucci, Paolo

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract.

  18. Isolated Partial Congenital Absence of the Pericardium: A Familial Presentation.

    PubMed

    Palau, Patricia; Domínguez, Eloy; García-González, Pilar; Gallego, Jorge; Bosch, María José; Sieso, Eduardo

    2016-08-01

    Congenital defects of the pericardium are uncommon heart abnormalities. Most of the patients are asymptomatic and are usually diagnosed incidentally. Complications are more common in partial absence than in complete absence of the pericardium; thus, this congenital defect should be identified because of the associated risk of sudden death. We report the first mention in the literature, to our knowledge, of a 3-generation familial presentation of isolated congenital partial absence of the pericardium with similar physical examination and radiological findings. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  19. What Are Congenital Heart Defects?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  20. Types of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  1. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

    Growing evidence has proved that many aspects of our lifestyle and the environment contribute to the development of congenital disease. Congenital spinal deformities are due to anomalous development of the vertebrae including failure of formation and segmentation during embryogenesis. The causes of congenital scoliosis have not been fully identified. A variety of factors are implicated in the development of vertebral abnormalities. Previous studies have demonstrated that both genetics and environmental factors are implicated in the development of vertebral abnormalities. However, no specific cause for congenital scoliosis has been identified. In our review, we focus on the environmental factors for the development of congenital scoliosis. Various maternal exposures during pregnancy including hypoxia, alcohol use, vitamin deficiency, valproic acid, boric acid, and hyperthermia have been observed to be associated with the occurrence of congenital scoliosis. This review describes the major environmental contributors of congenital scoliosis with an emphasis on treatment aspects associated with environmental disposition in congenital scoliosis.

  2. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

    ... of infancy Great Ormond Street Hospital for Children (UK) Merck Manual Consumer Version: Hypoglycemia Orphanet: Congenital isolated ... Diseases Congenital Hyperinsulinism International The Children's Hyperinsulinism Fund (UK) GeneReviews (1 link) Familial Hyperinsulinism ClinicalTrials.gov (1 ...

  3. Leber's congenital amaurosis.

    PubMed

    Mizuno, K; Takei, Y; Sears, M L; Peterson, W S; Carr, R E; Jampol, L M

    1977-01-01

    An early stage of Leber's congenital amaurosis, characterized by white spots or lines in the fundus, occurred in two children. Light microscopic examination of eyes obtained from one child, a 16-month-old Japanese girl, revealed subretinal deposits corresponding to the white spots and lines in the fundus deposits. Light and electron microscopic examination of the eye showed distinctive changes in the outer retinal layers and choroid, while the inner retinal layers were nearly normal. Characteristic early lesions of congenital amaurosis appeared to be produced by deposits consisting of loose outer segments and apical processes of the pigmental epithelial cell and macrophages. Undifferentiation in the nuclei of the photoreceptor cell, the inner segment, the pigment epithelial cell, and the choriocapillaris were likely characteristics of the early changes of congenital amaurosis.

  4. [Congenital chloride diarrhea].

    PubMed

    Contreras, Mónica; Rocca, Ana; Benedetti, Laura; Kakisu, Hisae; Delgado, Sabrina; Ruiz, José Antonio

    2005-01-01

    Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.

  5. [Rapidly involuting congenital hemangiomas: twenty five case series].

    PubMed

    Larralde, Margarita; Solé, Juan Javier; Luna, Paula Carolina; Mosquera, Tomás; Abad, María Eugenia

    2014-04-01

    Rapidly involuting congenital hemangiomas are very rare vascular tumours, that are characterized for being completely developed at birth and for involuting in a short period of time after birth. We describe a case series of 25 patients with rapidly involuting congenital hemangiomas. Twelve patients were male and 13 female; they were all born at term. Lesions were small in 17 cases and big in 8. No patient needed active intervention and all lesions showed a rapid initial involution.

  6. Ex utero intrapartum treatment (EXIT) for congenital giant ranula.

    PubMed

    Chan, Dorothy F Y; Lee, Cheuk H; Fung, Tak Y; Chan, Daniel L W; Abdullah, Victor; Ng, Pak C

    2006-10-01

    Congenital giant ranula causing life-threatening upper airway obstruction is a rare condition. A well-planned ex utero intrapartum treatment (EXIT) procedure for aspiration and decompression of the cystic lesion is simple, efficacious and effective in securing a patent airway before the fetus is completely delivered, and may prevent lifelong neurodevelopmental complications associated with perinatal asphyxia in such cases. EXIT could be a life-saving procedure for congenital giant ranula.

  7. Congenital brain infections.

    PubMed

    Arbelaez, Andres; Restrepo, Feliza; Davila, Jorge; Castillo, Mauricio

    2014-06-01

    Pediatric congenital intracranial infections are a group of different and important entities that constitute a small percentage of all pediatric infections. The causal factors and clinical presentations are different in children compared with adults. They require early recognition because delay diagnosis and initiation of treatment may have catastrophic consequences. Despite improvements in prenatal screening, vaccine safety, and antibiotics, infections of the central nervous system remain an important cause of neurological disabilities worldwide. This article reviews the most common congenital infections and their imaging findings.

  8. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

    Acute infection of toxoplasmosis during pregnancy is detrimental to the developing fetus. In the United States, approximately 1 in 10,000 live births are affected by congenital toxoplasmosis. Although multifactorial in etiology, maternal infection is primarily attributed to the consumption of contaminated meat or water. Infection and transmission to the fetus may result in devastating neurologic impairment. Screening methods for all pregnant women should be implemented in routine prenatal care. This article will highlight the inherent dangers of congenital toxoplasmosis, while including general care of the fetus for prevention of transmission, medical management, and long-term outcomes.

  9. Congenital muscular torticollis

    PubMed Central

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical release of the involved SCM followed by physiotherapy. PMID:24205484

  10. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated.

  11. Common Congenital Anomalies

    PubMed Central

    Lowry, R. B.

    1985-01-01

    Congenital anomalies account for a substantial proportion of childhood morbidity and mortality. They have become proportionately larger because of the decline of such other categories as infections or birth trauma. Approximately 3% of newborns have a serious handicapping or potentially lethal condition; in longterm studies the frequency is much higher. There is no good evidence to suggest that the rates of congenital anomalies are increasing, although this is a common perception. This article discusses diagnosis and management (especially genetic implications) of heart defects, neural tube defects, orofacial clefting, dislocated hip, clubfoot, and hypospadias. PMID:21274150

  12. Congenital Adrenal Hyperplasia

    PubMed Central

    Speiser, Phyllis W.

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management. PMID:26339484

  13. Extracting stationary segments from non-stationary synthetic and cardiac signals

    NASA Astrophysics Data System (ADS)

    Rodríguez, María. G.; Ledezma, Carlos A.; Perpiñán, Gilberto; Wong, Sara; Altuve, Miguel

    2015-01-01

    Physiological signals are commonly the result of complex interactions between systems and organs, these interactions lead to signals that exhibit a non-stationary behaviour. For cardiac signals, non-stationary heart rate variability (HRV) may produce misinterpretations. A previous work proposed to divide a non-stationary signal into stationary segments by looking for changes in the signal's properties related to changes in the mean of the signal. In this paper, we extract stationary segments from non-stationary synthetic and cardiac signals. For synthetic signals with different signal-to-noise ratio levels, we detect the beginning and end of the stationary segments and the result is compared to the known values of the occurrence of these events. For cardiac signals, RR interval (cardiac cycle length) time series, obtained from electrocardiographic records during stress tests for two populations (diabetic patients with cardiovascular autonomic neuropathy and control subjects), were divided into stationary segments. Results on synthetic signals reveal that the non-stationary sequence is divided into more stationary segments than needed. Additionally, due to HRV reduction and exercise intolerance reported on diabetic cardiovascular autonomic neuropathy patients, non-stationary RR interval sequences from these subjects can be divided into longer stationary segments compared to the control group.

  14. Stationary rotating strings as relativistic particle mechanics

    SciTech Connect

    Ogawa, Kouji; Ishihara, Hideki; Saito, Shinya; Kozaki, Hiroshi; Nakano, Hiroyuki

    2008-07-15

    Stationary rotating strings can be viewed as geodesic motions in appropriate metrics in two-dimensional space. We obtain all solutions describing stationary rotating strings in flat spacetime as an application. These rotating strings have infinite length with various wiggly shapes. Averaged value of the string energy, the angular momentum, and the linear momentum along the string are discussed.

  15. Stationary Engineering Laboratory--2. Teacher's Guide.

    ERIC Educational Resources Information Center

    Steingress, Frederick M.; Frost, Harold J.

    The Stationary Engineering Laboratory Manual 2 Teacher's Guide was designed as an aid to the instructors of vocational-technical high school students who have received instruction in the basics of stationary engineering. The course of study was developed for students who will be operating a live plant and who will be responsible for supplying…

  16. Space plasma physics: I - Stationary processes

    NASA Technical Reports Server (NTRS)

    Hasegawa, Akira; Sato, Tetsuya

    1989-01-01

    The physics of stationary processes in space plasmas is examined theoretically in an introduction intended for graduate students. The approach involves the extensive use of numerical simulations. Chapters are devoted to fundamental principles, small-amplitude waves, and the stationary solar plasma system; typical measurement data and simulation results are presented graphically.

  17. Adult Congenital Heart Association

    MedlinePlus

    ... my congenital heart … Read More Let's Talk About Love... BY Kelly DiMaggio Being in love and in a relationship is one of the ... are born they have … Read More Learning to Love the Scar BY Clare Almand I wrote about ...

  18. Congenital adrenal hyperplasia

    MedlinePlus

    ... or inappropriately). Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 ... penis but normal testes Well-developed muscles Both boys and girls will be tall as children, but much shorter ...

  19. Congenital sternal cleft.

    PubMed

    Biswas, G; Khandelwal, N K; Venkatramu, N K; Chari, P S

    2001-04-01

    A cleft of the sternum is a rare congenital anomaly. We present a case of a sternal cleft in a 7-year-old boy. A split iliac bone graft covered with the sternocostal portion of a pectoralis major flap was used to reconstruct the defect. Copyright 2001 The British Association of Plastic Surgeons.

  20. Stationary power fuel cell commercialization status worldwide

    SciTech Connect

    Williams, M.C.

    1996-12-31

    Fuel cell technologies for stationary power are set to play a role in power generation applications worldwide. The worldwide fuel cell vision is to provide powerplants for the emerging distributed generation and on-site markets. Progress towards commercialization has occurred in all fuel cell development areas. Around 100 ONSI phosphoric acid fuel cell (PAFC) units have been sold, with significant foreign sales in Europe and Japan. Fuji has apparently overcome its PAFC decay problems. Industry-driven molten carbonate fuel cell (MCFC) programs in Japan and the U.S. are conducting megawatt (MW)-class demonstrations, which are bringing the MCFC to the verge of commercialization. Westinghouse Electric, the acknowledged world leader in tubular solid oxide fuel cell (SOFC) technology, continues to set performance records and has completed construction of a 4-MW/year manufacturing facility in the U.S. Fuel cells have also taken a major step forward with the conceptual development of ultra-high efficiency fuel cell/gas turbine plants. Many SOFC developers in Japan, Europe, and North America continue to make significant advances.

  1. Irreversible reactions and diffusive escape: Stationary properties

    SciTech Connect

    Krapivsky, Paul L.; Ben-Naim, Eli

    2015-05-01

    We study three basic diffusion-controlled reaction processes—annihilation, coalescence, and aggregation. We examine the evolution starting with the most natural inhomogeneous initial configuration where a half-line is uniformly filled by particles, while the complementary half-line is empty. We show that the total number of particles that infiltrate the initially empty half-line is finite and has a stationary distribution. We determine the evolution of the average density from which we derive the average total number N of particles in the initially empty half-line; e.g. for annihilation $\\langle N\\rangle = \\frac{3}{16}+\\frac{1}{4\\π}$ . For the coalescence process, we devise a procedure that in principle allows one to compute P(N), the probability to find exactly N particles in the initially empty half-line; we complete the calculations in the first non-trivial case (N = 1). As a by-product we derive the distance distribution between the two leading particles.

  2. Irreversible reactions and diffusive escape: Stationary properties

    DOE PAGES

    Krapivsky, Paul L.; Ben-Naim, Eli

    2015-05-01

    We study three basic diffusion-controlled reaction processes—annihilation, coalescence, and aggregation. We examine the evolution starting with the most natural inhomogeneous initial configuration where a half-line is uniformly filled by particles, while the complementary half-line is empty. We show that the total number of particles that infiltrate the initially empty half-line is finite and has a stationary distribution. We determine the evolution of the average density from which we derive the average total number N of particles in the initially empty half-line; e.g. for annihilationmore » $$\\langle N\\rangle = \\frac{3}{16}+\\frac{1}{4\\π}$$ . For the coalescence process, we devise a procedure that in principle allows one to compute P(N), the probability to find exactly N particles in the initially empty half-line; we complete the calculations in the first non-trivial case (N = 1). As a by-product we derive the distance distribution between the two leading particles.« less

  3. Stationary Plasma Thruster Plume Characteristics

    NASA Technical Reports Server (NTRS)

    Myers, Roger M.; Manzella, David H.

    1994-01-01

    Stationary Plasma Thrusters (SPT's) are being investigated for application to a variety of near-term missions. This paper presents the results of a preliminary study of the thruster plume characteristics which are needed to assess spacecraft integration requirements. Langmuir probes, planar probes, Faraday cups, and a retarding potential analyzer were used to measure plume properties. For the design operating voltage of 300 V the centerline electron density was found to decrease from approximately 1.8 x 10 exp 17 cubic meters at a distance of 0.3 m to 1.8 X 10 exp 14 cubic meters at a distance of 4 m from the thruster. The electron temperature over the same region was between 1.7 and 3.5 eV. Ion current density measurements showed that the plume was sharply peaked, dropping by a factor of 2.6 within 22 degrees of centerline. The ion energy 4 m from the thruster and 15 degrees off-centerline was approximately 270 V. The thruster cathode flow rate and facility pressure were found to strongly affect the plume properties. In addition to the plume measurements, the data from the various probe types were used to assess the impact of probe design criteria

  4. Chaotic orbit effects in a stationary single particle probabilistic density

    NASA Astrophysics Data System (ADS)

    Ogawa, Shun; Leoncini, Xavier; Vittot, Michel; Dif-Pradalier, Guilhem; Garbet, Xavier

    2016-10-01

    Chaotic particle orbit effects in a stationary density function or macroscopic quantities are investigated. A considered field consists with static magnetic field and null electric field in a cylinder, then a test particle is driven by the Lorentz force. We firstly consider an axisymmetric magnetic field, where three integrals of motion coexist. So that the test particle motion is completely integrable, and its Hamiltonian is reduced to an effective one degree of freedom Hamiltonian. For some initial states, the effective potential of this reduced Hamiltonian has a saddle point and a separatrix bringing about some chaos when a perturbation is added to the magnetic field. We investigate how this chaos modifies the stationary density function. We acknowledge support of the A *MIDEX project (n ∘ ANR-11- IDEX-0001-02) funded by the ``investissements d'Avenir'' French Government program, managed by the French National Research Agency (ANR).

  5. Defects in the Error Prevention Oxidized Guanine System Potentiate Stationary-Phase Mutagenesis in Bacillus subtilis▿

    PubMed Central

    Vidales, Luz E.; Cárdenas, Lluvia C.; Robleto, Eduardo; Yasbin, Ronald E.; Pedraza-Reyes, Mario

    2009-01-01

    Previous studies showed that a Bacillus subtilis strain deficient in mismatch repair (MMR; encoded by the mutSL operon) promoted the production of stationary-phase-induced mutations. However, overexpression of the mutSL operon did not completely suppress this process, suggesting that additional DNA repair mechanisms are involved in the generation of stationary-phase-associated mutants in this bacterium. In agreement with this hypothesis, the results presented in this work revealed that starved B. subtilis cells lacking a functional error prevention GO (8-oxo-G) system (composed of YtkD, MutM, and YfhQ) had a dramatic propensity to increase the number of stationary-phase-induced revertants. These results strongly suggest that the occurrence of mutations is exacerbated by reactive oxygen species in nondividing cells of B. subtilis having an inactive GO system. Interestingly, overexpression of the MMR system significantly diminished the accumulation of mutations in cells deficient in the GO repair system during stationary phase. These results suggest that the MMR system plays a general role in correcting base mispairing induced by oxidative stress during stationary phase. Thus, the absence or depression of both the MMR and GO systems contributes to the production of stationary-phase mutants in B. subtilis. In conclusion, our results support the idea that oxidative stress is a mechanism that generates genetic diversity in starved cells of B. subtilis, promoting stationary-phase-induced mutagenesis in this soil microorganism. PMID:19011023

  6. Fetal congenital lobar emphysema.

    PubMed

    Chia, Chun-Chieh; Huang, Soon-Cen; Liu, Min-Chang; Se, Tung-Yi

    2007-03-01

    To report a rare fetal congenital lung anomaly characterized by over inflation of a pulmonary lobe. A 28-year-old systemic lupus erythematous mother, gravida 1 para 0, who had normal prenatal care in our department, was admitted for labor pain and an abnormal fetal heart location was noted incidentally during labor. The baby showed rib retraction in room air but no obvious cyanotic change after delivery. Both the fetus chest X-ray and ultrasound showed a hyperechogenic tumor in the left thoracic cavity with a right-side-shifted heart and trachea. Computed tomography showed a hypodense and multiseptal tumor in the left thoracic cavity with right-sided shift of the heart and trachea. It was a soft, solid tumor in the parenchyma of the left lung and the histopathology confirmed it to be benign congenital lobar emphysema. The favorable outcome in both asymptomatic and mildly symptomatic children suggests that a nonsurgical approach should be considered for these patients.

  7. Congenital Orbital Teratoma.

    PubMed

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks' gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor.

  8. [Congenital esophageal diverticulum].

    PubMed

    Belío-Castillo, C; Bracho-Blanchet, E; Blanco-Rodríguez, G

    1990-08-01

    The congenital or acquired variety of esophageal diverticulum is a rare childhood disease. Reported is a case-study which deals with a five year old patient who arrived at our hospital complaining of a constricture at the cricopharyngeal level. A month later he returned to the hospital with dysphasia and regurgitation; the X-rays and endoscopic diagnosis showed stenosis of the esophagus and the presence of an esophageal diverticulum. Esophageal dilatations were carried out until an acceptable esophageal diameter was reached. Later on, the surgical removal of the diverticulum was performed without any complications. The histopathological study showed the congenital nature of the diverticulum. The patient's recovery went well and is currently considered as cured.

  9. Update on congenital glaucoma

    PubMed Central

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  10. Congenital Orbital Teratoma

    PubMed Central

    Pellerano, Fernando; Guillermo, Elvis; Garrido, Gloreley; Berges, Pedro

    2017-01-01

    We report a case of congenital orbital teratoma. A 3-day-old male, born at 39 weeks’ gestation without relevant prenatal history, presented with a large vascularized proptotic mass distorting the left midface. Laboratory studies showed elevated serum alpha-fetoprotein (12,910 ng/ml). Computed tomography showed a multiloculated heterogeneous lesion composed of hypodense and hyperdense calcified areas encompassing the whole orbital cavity with expansion of the bony walls, as well as forward displacement and compression of the eyeball without extension to surrounding structures. Clinical, imaging and laboratory features were consistent with congenital orbital teratoma. Due to pronounced proptosis with exposure keratopathy and corneal perforation, no motility of the globe and no vision in the affected eye in a resource-limited setting, the patient underwent orbital exenteration. Histopathological examination confirmed the diagnosis of mature cystic teratoma. We describe the clinical course, radiographic and histopathological findings of this rare orbital tumor. PMID:28275597

  11. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    PubMed

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  12. Congenital varicella syndrome.

    PubMed

    Sasidharan, C K; Anoop, P

    2003-01-01

    The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.

  13. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

    In two families with congenital amaurosis of Leber, keratoglobus was found in all affected members and posterior subcapsular cataracts in most of them. Consanguinity was present in one family. Pathologic findings in one enucleated eye were presented. The literature on this disease was briefly reviewed. Whether the disease is a definite clinical or genetic entity and whether it might be an agenesis or an abiotrophy, or both, were discussed.

  14. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment.

  15. Myopathology in congenital myopathies.

    PubMed

    Sewry, C A; Wallgren-Pettersson, C

    2017-02-01

    Congenital myopathies are clinically and genetically a heterogeneous group of early onset neuromuscular disorders, characterized by hypotonia and muscle weakness. Clinical severity and age of onset are variable. Many patients are severely affected at birth while others have a milder, moderately progressive or nonprogressive phenotype. Respiratory weakness is a major clinical aspect that requires regular monitoring. Causative mutations in several genes have been identified that are inherited in a dominant, recessive or X-linked manner, or arise de novo. Muscle biopsies show characteristic pathological features such as nemaline rods/bodies, cores, central nuclei or caps. Small type 1 fibres expressing slow myosin are a common feature and may sometimes be the only abnormality. Small cores (minicores) devoid of mitochondria and areas showing variable myofibrillar disruption occur in several neuromuscular disorders including several forms of congenital myopathy. Muscle biopsies can also show more than one structural defect. There is considerable clinical, pathological and genetic overlap with mutations in one gene resulting in more than one pathological feature, and the same pathological feature being associated with defects in more than one gene. Increasing application of whole exome sequencing is broadening the clinical and pathological spectra in congenital myopathies, but pathology still has a role in clarifying the pathogenicity of gene variants as well as directing molecular analysis. © 2016 British Neuropathological Society.

  16. Congenital hearing loss.

    PubMed

    Korver, Anna M H; Smith, Richard J H; Van Camp, Guy; Schleiss, Mark R; Bitner-Glindzicz, Maria A K; Lustig, Lawrence R; Usami, Shin-Ichi; Boudewyns, An N

    2017-01-12

    Congenital hearing loss (hearing loss that is present at birth) is one of the most prevalent chronic conditions in children. In the majority of developed countries, neonatal hearing screening programmes enable early detection; early intervention will prevent delays in speech and language development and has long-lasting beneficial effects on social and emotional development and quality of life. A diagnosis of hearing loss is usually followed by a search for an underlying aetiology. Congenital hearing loss might be attributed to environmental and prenatal factors, which prevail in low-income settings; congenital infections, particularly cytomegalovirus infection, are also a common risk factor for hearing loss. Genetic causes probably account for the majority of cases in developed countries; mutations can affect any component of the hearing pathway, in particular, inner ear homeostasis (endolymph production and maintenance) and mechano-electrical transduction (the conversion of a mechanical stimulus into electrochemical activity). Once the underlying cause of hearing loss is established, it might direct therapeutic decision making and guide prevention and (genetic) counselling. Management options include specific antimicrobial therapies, surgical treatment of craniofacial abnormalities and implantable or non-implantable hearing devices. An improved understanding of the pathophysiology and molecular mechanisms that underlie hearing loss and increased awareness of recent advances in genetic testing will promote the development of new treatment and screening strategies.

  17. Severe congenital neutropenias.

    PubMed

    Skokowa, Julia; Dale, David C; Touw, Ivo P; Zeidler, Cornelia; Welte, Karl

    2017-06-08

    Severe congenital neutropenias are a heterogeneous group of rare haematological diseases characterized by impaired maturation of neutrophil granulocytes. Patients with severe congenital neutropenia are prone to recurrent, often life-threatening infections beginning in their first months of life. The most frequent pathogenic defects are autosomal dominant mutations in ELANE, which encodes neutrophil elastase, and autosomal recessive mutations in HAX1, whose product contributes to the activation of the granulocyte colony-stimulating factor (G-CSF) signalling pathway. The pathophysiological mechanisms of these conditions are the object of extensive research and are not fully understood. Furthermore, severe congenital neutropenias may predispose to myelodysplastic syndromes or acute myeloid leukaemia. Molecular events in the malignant progression include acquired mutations in CSF3R (encoding G-CSF receptor) and subsequently in other leukaemia-associated genes (such as RUNX1) in a majority of patients. Diagnosis is based on clinical manifestations, blood neutrophil count, bone marrow examination and genetic and immunological analyses. Daily subcutaneous G-CSF administration is the treatment of choice and leads to a substantial increase in blood neutrophil count, reduction of infections and drastic improvement of quality of life. Haematopoietic stem cell transplantation is the alternative treatment. Regular clinical assessments (including yearly bone marrow examinations) to monitor treatment course and detect chromosomal abnormalities (for example, monosomy 7 and trisomy 21) as well as somatic pre-leukaemic mutations are recommended.

  18. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

    Congenital insensitivity to pain belongs to rare diseases called hereditary sensory neuropathy (HSN). The disturbance of sense and secondary harms are creating clinical picture. The aim of this report was to describe therapeutic problems with which we met with a three siblings with congenital insensitivity to pain. The authors have described three children with congenital insensitivity to pain. The disease was diagnosed at the age of 3-5. These children painlessly have broken their lower limbs. These fractures were late diagnosed what resulted in a badly healed deformation of legs. For this reason, the right knee of the oldest boy had to be stiffened. This boy had also late diagnosed the left hip luxation, and hematomas had arisen, which become filled with pus. The boy was in sepsis and a dramatic life-and-death struggle was performed. A purulent focuses were removed from abdomen and femoral head was also resected. The other two siblings had fractures and infections, but not such severe as the oldest boy. It is well known that a causal treatment of this disease in unknown. Patients must learn to avoid mechanical and thermal trauma. It is the only way to prevent complications of this disease.

  19. Congenital osteofibrous dysplasia Campanacci: spontaneous postbioptic regression.

    PubMed

    Jobke, Björn; Bohndorf, Klaus; Vieth, Volker; Werner, Mathias

    2014-04-01

    Osteofibrous dysplasia Campanacci is a rare benign bone tumor most frequently observed in young childhood. The exclusive localization in the tibia is very characteristic. The incidence of congenital primary bone tumors is an absolute rarity. We report a case of a newborn with a histologically proven osteofibrous dysplasia Campanacci at the tibia presenting a regular radiographic follow-up. After a small open biopsy and spontaneous minor fracture, the lesion rapidly remodeled within 1½ months and almost completely regressed with restutio ad integrum. Surgical intervention in this tumor entity at childhood age has been shown to have a high recurrence rate but due to lack of experience with newborns, guidelines do not exist. We analyze the radiologic and histologic differential diagnosis of juvenile adamantinoma and emphasize that congenital peripheral bone tumors should be treated conservatively when malignancy is excluded.

  20. Linear prediction of stationary vector sequences

    NASA Technical Reports Server (NTRS)

    Baram, Yoram

    1988-01-01

    The class of all linear predictors of minimal order for a stationary vector-valued process is specified in terms of linear transformations on the associated Hankel covariance matrix. Two particular transformations, yielding computationally efficient construction schemes, are proposed.

  1. Marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia.

    PubMed

    Scirè, Giuseppe; D'Anella, Giorgio; Cristofori, Laura; Mazzuca, Valentina; Cianfarani, Stefano

    2007-06-01

    We describe a child treated with high-dose steroid therapy for congenital adrenal hyperplasia who showed marked left ventricular hypertrophy mimicking hypertrophic cardiomyopathy associated with steroid therapy for congenital adrenal hyperplasia. Cardiomyopathy reversed completely when an appropriate steroid therapeutic regimen was established.

  2. Self-Organized Stationary States of Tokamaks

    SciTech Connect

    Jardin, S. C.; Ferraro, N.; Krebs, I.

    2015-11-01

    We demonstrate that in a 3D resistive magnetohydrodynamic simulation, for some parameters it is possible to form a stationary state in a tokamak where a saturated interchange mode in the center of the discharge drives a near helical flow pattern that acts to nonlinearly sustain the configuration by adjusting the central loop voltage through a dynamo action. This could explain the physical mechanism for maintaining stationary nonsawtoothing "hybrid" discharges, often referred to as "flux pumping."

  3. Self-Organized Stationary States of Tokamaks.

    PubMed

    Jardin, S C; Ferraro, N; Krebs, I

    2015-11-20

    We demonstrate that in a 3D resistive magnetohydrodynamic simulation, for some parameters it is possible to form a stationary state in a tokamak where a saturated interchange mode in the center of the discharge drives a near helical flow pattern that acts to nonlinearly sustain the configuration by adjusting the central loop voltage through a dynamo action. This could explain the physical mechanism for maintaining stationary nonsawtoothing "hybrid" discharges, often referred to as "flux pumping."

  4. Stationary phase deposition based on onium salts

    DOEpatents

    Wheeler, David R.; Lewis, Patrick R.; Dirk, Shawn M.; Trudell, Daniel E.

    2008-01-01

    Onium salt chemistry can be used to deposit very uniform thickness stationary phases on the wall of a gas chromatography column. In particular, the stationary phase can be bonded to non-silicon based columns, especially microfabricated metal columns. Non-silicon microfabricated columns may be manufactured and processed at a fraction of the cost of silicon-based columns. In addition, the method can be used to phase-coat conventional capillary columns or silicon-based microfabricated columns.

  5. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy.

  6. [Congenital knee dislocation: case report].

    PubMed

    Arvinius, C; Luque, R; Díaz-Ceacero, C; Marco, F

    2016-01-01

    Congenital knee dislocation is an infrequent condition with unknown etiology. In some cases it occurs as an isolated condition, while in others it coexists with associated conditions or syndromes. The treatment of congenital knee dislocation is driven by the severity and flexibility of the deformity. The literature includes from serial casting or the Pavlik harness to quadriceps tendon plasty or femoral osteotomies. We report herein the case of a congenital dislocation treated with serial casting with a good outcome.

  7. Dampers for Stationary Labyrinth Seals

    NASA Technical Reports Server (NTRS)

    El-Aini, Yehia; Mitchell, William; Roberts, Lawrence; Montgomery, Stuart; Davis, Gary

    2011-01-01

    Vibration dampers have been invented that are incorporated as components within the stationary labyrinth seal assembly. These dampers are intended to supplement other vibration-suppressing features of labyrinth seals in order to reduce the incidence of high-cycle-fatigue failures, which have been known to occur in the severe vibratory environments of jet engines and turbopumps in which labyrinth seals are typically used. A vibration damper of this type includes several leaf springs and/or a number of metallic particles (shot) all held in an annular seal cavity by a retaining ring. The leaf springs are made of a spring steel alloy chosen, in conjunction with design parameters, to maintain sufficient preload to ensure effectiveness of damping at desired operating temperatures. The cavity is vented via a small radial gap between the retaining ring and seal housing. The damping mechanism is complex. In the case of leaf springs, the mechanism is mainly friction in the slippage between the seal housing and individual dampers. In the case of a damper that contains shot, the damping mechanism includes contributions from friction between individual particles, friction between particles and cavity walls, and dissipation of kinetic energy of impact. The basic concept of particle/shot vibration dampers has been published previously; what is new here is the use of such dampers to suppress traveling-wave vibrations in labyrinth seals. Damping effectiveness depends on many parameters, including, but not limited to, coefficient of friction, mode shape, and frequency and amplitude of vibrational modes. In tests, preloads of the order of 6 to 15 lb (2.72 to 6.8 kilograms) per spring damper were demonstrated to provide adequate damping levels. Effectiveness of shot damping of vibrations having amplitudes from 20 to 200 times normal terrestrial gravitational acceleration (196 to 1,960 meters per square second) and frequencies up to 12 kHz was demonstrated for shot sizes from 0.032 to

  8. Relaxation dynamics near nonequilibrium stationary states in Brownian ratchets

    NASA Astrophysics Data System (ADS)

    Woo, Hyung-June

    2009-02-01

    A comprehensive study of the static and dynamical properties of a representative stochastic model of Brownian ratchet effects for molecular motors is reported. The model describes Brownian motions on two periodic potentials under static and time-dependent forces, where there are two distinct locations of chemical reactions coupling the levels with reversible rates within a period. Complete stationary properties have been obtained analytically for arbitrary potentials under external force. Dynamical relaxation properties near nonequilibrium stationary states were examined by considering the response function of velocity upon time-dependent external force, expressed in terms of the conditional probability density of the model. The latter is fully calculated using a systematic numerical method using matrix diagonalization, which is easily generalized to more complicated models for studying both static and dynamical properties. The behavior of the time-dependent response examined for model potentials suggests that the characteristic relaxation time near stationary states generally decreases linearly with respect to increasing velocity as one goes away from equilibrium via an increase in chemical potential of fuel species, a prediction testable in single molecule experiments.

  9. Parallel-hole collimator concept for stationary SPECT imaging.

    PubMed

    Pato, Lara R V; Vandenberghe, Stefaan; Zedda, Tiziana; Van Holen, Roel

    2015-11-21

    Parallel-hole SPECT collimators have traditionally been manufactured by stacking sheets of lead foil or by casting. These techniques significantly restrict our options in terms of collimator geometry. However, recent developments in metal additive manufacturing are making novel collimator designs possible, giving rise to new opportunities in SPECT imaging. In this paper we propose an innovative type of collimator for stationary SPECT, using parallel-holes whose collimation direction depends on their axial position. Its main advantage compared to current stationary SPECT systems (which are based on pinholes) is that, using only axial bed translations, we can achieve complete angular sampling of an increased portion of the transaxial area of the collimator bore. This allows the system to be much more compact than current stationary SPECT systems that image objects of the same size. We describe three possible designs, for full-body, brain and small-animal imaging, respectively, and test their feasibility using simulations. The system modeling method is validated against realistic Monte Carlo simulations, and then used in the evaluation of the systems' performances and reconstructions. The simulations show that the system is able to reconstruct objects occupying the predicted field of view ([Formula: see text] of the transaxial area of the bore) without sampling artifacts. In particular, we perform reconstructions from noisy projection data obtained for an activity and scanning time similar to standard protocols for the three applications, and the resulting images indicate the possibility of using the proposed systems in practice.

  10. Parallel-hole collimator concept for stationary SPECT imaging

    NASA Astrophysics Data System (ADS)

    Pato, Lara R. V.; Vandenberghe, Stefaan; Zedda, Tiziana; Van Holen, Roel

    2015-11-01

    Parallel-hole SPECT collimators have traditionally been manufactured by stacking sheets of lead foil or by casting. These techniques significantly restrict our options in terms of collimator geometry. However, recent developments in metal additive manufacturing are making novel collimator designs possible, giving rise to new opportunities in SPECT imaging. In this paper we propose an innovative type of collimator for stationary SPECT, using parallel-holes whose collimation direction depends on their axial position. Its main advantage compared to current stationary SPECT systems (which are based on pinholes) is that, using only axial bed translations, we can achieve complete angular sampling of an increased portion of the transaxial area of the collimator bore. This allows the system to be much more compact than current stationary SPECT systems that image objects of the same size. We describe three possible designs, for full-body, brain and small-animal imaging, respectively, and test their feasibility using simulations. The system modeling method is validated against realistic Monte Carlo simulations, and then used in the evaluation of the systems’ performances and reconstructions. The simulations show that the system is able to reconstruct objects occupying the predicted field of view (75% of the transaxial area of the bore) without sampling artifacts. In particular, we perform reconstructions from noisy projection data obtained for an activity and scanning time similar to standard protocols for the three applications, and the resulting images indicate the possibility of using the proposed systems in practice.

  11. Stationary phase in the yeast Saccharomyces cerevisiae.

    PubMed Central

    Werner-Washburne, M; Braun, E; Johnston, G C; Singer, R A

    1993-01-01

    Growth and proliferation of microorganisms such as the yeast Saccharomyces cerevisiae are controlled in part by the availability of nutrients. When proliferating yeast cells exhaust available nutrients, they enter a stationary phase characterized by cell cycle arrest and specific physiological, biochemical, and morphological changes. These changes include thickening of the cell wall, accumulation of reserve carbohydrates, and acquisition of thermotolerance. Recent characterization of mutant cells that are conditionally defective only for the resumption of proliferation from stationary phase provides evidence that stationary phase is a unique developmental state. Strains with mutations affecting entry into and survival during stationary phase have also been isolated, and the mutations have been shown to affect at least seven different cellular processes: (i) signal transduction, (ii) protein synthesis, (iii) protein N-terminal acetylation, (iv) protein turnover, (v) protein secretion, (vi) membrane biosynthesis, and (vii) cell polarity. The exact nature of the relationship between these processes and survival during stationary phase remains to be elucidated. We propose that cell cycle arrest coordinated with the ability to remain viable in the absence of additional nutrients provides a good operational definition of starvation-induced stationary phase. PMID:8393130

  12. Living with a Congenital Heart Defect

    MedlinePlus

    ... congenital heart disease. Google+ Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/ ... 2013, in the journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI- ...

  13. Stationary Liquid Fuel Fast Reactor

    SciTech Connect

    Yang, Won Sik; Grandy, Andrew; Boroski, Andrew; Krajtl, Lubomir; Johnson, Terry

    2015-09-30

    For effective burning of hazardous transuranic (TRU) elements of used nuclear fuel, a transformational advanced reactor concept named SLFFR (Stationary Liquid Fuel Fast Reactor) was proposed based on stationary molten metallic fuel. The fuel enters the reactor vessel in a solid form, and then it is heated to molten temperature in a small melting heater. The fuel is contained within a closed, thick container with penetrating coolant channels, and thus it is not mixed with coolant nor flow through the primary heat transfer circuit. The makeup fuel is semi- continuously added to the system, and thus a very small excess reactivity is required. Gaseous fission products are also removed continuously, and a fraction of the fuel is periodically drawn off from the fuel container to a processing facility where non-gaseous mixed fission products and other impurities are removed and then the cleaned fuel is recycled into the fuel container. A reference core design and a preliminary plant system design of a 1000 MWt TRU- burning SLFFR concept were developed using TRU-Ce-Co fuel, Ta-10W fuel container, and sodium coolant. Conservative design approaches were adopted to stay within the current material performance database. Detailed neutronics and thermal-fluidic analyses were performed to develop a reference core design. Region-dependent 33-group cross sections were generated based on the ENDF/B-VII.0 data using the MC2-3 code. Core and fuel cycle analyses were performed in theta-r-z geometries using the DIF3D and REBUS-3 codes. Reactivity coefficients and kinetics parameters were calculated using the VARI3D perturbation theory code. Thermo-fluidic analyses were performed using the ANSYS FLUENT computational fluid dynamics (CFD) code. Figure 0.1 shows a schematic radial layout of the reference 1000 MWt SLFFR core, and Table 0.1 summarizes the main design parameters of SLFFR-1000 loop plant. The fuel container is a 2.5 cm thick cylinder with an inner radius of 87.5 cm. The fuel

  14. Oculomotor instabilities in zebrafish mutant belladonna: a behavioral model for congenital nystagmus caused by axonal misrouting.

    PubMed

    Huang, Ying-Yu; Rinner, Oliver; Hedinger, Patrik; Liu, Shih-Chii; Neuhauss, Stephan C F

    2006-09-27

    A large fraction of homozygous zebrafish mutant belladonna (bel) larvae display a reversed optokinetic response (OKR) that correlates with failure of the retinal ganglion cells to cross the midline and form the optic chiasm. Some of these achiasmatic mutants display strong spontaneous eye oscillations (SOs) in the absence of motion in the surround. The presentation of a stationary grating was necessary and sufficient to evoke SO. Both OKR reversal and SO depend on vision and are contrast sensitive. We built a quantitative model derived from bel fwd (forward) eye behaviors. To mimic the achiasmatic condition, we reversed the sign of the retinal slip velocity in the model, thereby successfully reproducing both reversed OKR and SO. On the basis of the OKR data, and with the support of the quantitative model, we hypothesize that the reversed OKR and the SO can be completely attributed to RGC misrouting. The strong resemblance between the SO and congenital nystagmus (CN) seen in humans with defective retinotectal projections implies that CN, of so far unknown etiology, may be directly caused by a projection defect.

  15. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  16. Detection of TORCH pathogens in children with congenital cataracts

    PubMed Central

    Lu, Bin; Yang, Yabo

    2016-01-01

    The aim of the present study was to investigate the correlation between infection rates with TORCH pathogens including toxoplasma, rubella virus, cytomegalovirus, and herpes simplex virus (HSV) I and II and congenital cataracts. In total, the data from 69 children with congenital cataract treated at the Children's Hospital of the Zhejiang University School of Medicine between May 2006 and September 2013 were examined, including the complete serum test results for immunoglobulin (Ig)G and IgM that target TORCH pathogenic antibodies. These results were compared with the antibody levels of 5,914 children in a control group. Using SPSS 19.0 software, variance equation Levene tests, mean equation t tests, and completely randomized design of four tables χ2 tests were applied. The HSV II IgG positivity rates significantly differed between the cataract and control groups. These results suggested that HSV may be one of the pathogenic viruses that leads to congenital cataracts. PMID:27446337

  17. Congenital Horner's syndrome.

    PubMed

    Weinstein, J M; Zweifel, T J; Thompson, H S

    1980-06-01

    Patients with congenital Horner's syndrome (who seemed, on the basis of their clinical history and the distribution fo anhidrosis, to have a preganglionic lesion) had partial mydriatic failure with hydroxyamphetamine hydrobromide and a supersensitivity to phenylephrine hydrochloride. This apparent paradox can be readily explained by postulating an aorthograde transsynaptic dysgenesis of the postganglionic neuron, such as has been demonstrated in the sympathetic nervous system of newborn animals. The failure of hydroxyamphetamine to cause mydriasis indicates damage to the postganglionic sympathetic neuron, but in the neonate this damage may be secondary to a preganglionic lesion.

  18. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

    Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

  19. Congenital defects of the pericardium: a review.

    PubMed

    Shah, Ankit B; Kronzon, Itzhak

    2015-08-01

    Pericardial defects are a rare disorder that can be characterized as acquired or congenital. Congenital defects can be further characterized by location and size of the defect, e.g. left- or right-sided and partial or complete absence of the pericardium. While physical examination and electrocardiogram are not diagnostic, chest radiographs and echocardiography have findings that should alert the clinician to the absence of the pericardium as a possible diagnosis. Despite its limitations with visualizing the normal pericardium in areas of minimal adipose, cardiac magnetic resonance is currently the gold standard for diagnosing the congenital absence of the pericardium. Patients have a similar life expectancy to those without pericardial defects; however in certain cases, herniation and strangulation of cardiac chambers can be life threatening and lead to sudden cardiac death. Treatment is tailored to the patient's symptoms, presentation, and the size and location of the defect. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  20. Personal pollen exposure compared to stationary measurements.

    PubMed

    Riediker, M; Keller, S; Wüthrich, B; Koller, T; Monn, C

    2000-01-01

    The aim of this study was to examine to what extent stationary outdoor pollen measurements are representative for estimating personal exposure to pollen. Ten subjects were studied during a total of 36 days in spring and summer Pollen was sampled using personal SKC total dust samplers and stationary Burkard pollen traps. The personal activity pattern was recorded quarter-hourly as well as the time spent outdoors. As a reference, SKC and Burkard samplers were run stationary and in parallel. Stationary comparison of the samplers showed good correlation (r = 0.981, p <0.001). However, the SKC sampler collected systematically about four times less pollen than the Burkard sampler. Taking into account the systematic difference between the sampling devices, the personal exposure data were about 30% of the stationary pollen concentrations with significant correlation (log-transformed data, r = 0.719, p <0.0001). Considering the average time the subjects spent outdoors (14% of sampling time), the indoor-outdoor ratio for pollen was 0.2. In conclusion, pollen reports are reliable for estimating personal exposure over a limited time period although personal pollen exposure is much lower.

  1. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro.

  2. Cataracts in Congenital Toxoplasmosis

    PubMed Central

    Arun, Veena; Noble, A. Gwendolyn; Latkany, Paul; Troia, Robert N.; Jalbrzikowski, Jessica; Kasza, Kristen; Karrison, Ted; Cezar, Simone; Sautter, Mari; Greenwald, Mark J.; Mieler, William; Mets, Marilyn B.; Alam, Ambereen; Boyer, Kenneth; Swisher, Charles N.; Roizen, Nancy; Rabiah, Peter; Del Monte, Monte A.; McLeod, Rima

    2008-01-01

    Purpose To determine the incidence and natural history of cataracts in children with congenital toxoplasmosis. Methods Children referred to the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS) between 1981 and 2005 were examined by ophthalmologists at predetermined times according to a specific protocol. The clinical course and treatment of patients who developed cataracts was reviewed. Results In the first year of life, 134 of 173 children examined were treated with pyrimethamine, sulfadiazine, and Leucovorin, while the remaining 39 were not treated. Cataracts occurred in 27 eyes of 20 patients (11.6%, 95% confidence interval [7.2%, 17.3%]). Fourteen cataracts were present at birth, and 13 developed postnatally. Locations of the cataracts included anterior polar (3 eyes), anterior subcapsular (6), nuclear (5), posterior subcapsular (7), and unknown (6). Thirteen cataracts were partial, 9 total, and 5 with unknown complexity. Twelve cataracts remained stable, 12 progressed, and progression was not known for 3. Five of 27 eyes had cataract surgery, with 2 of these developing glaucoma. Sixteen eyes of 11 patients had retinal detachment and cataract. All eyes with cataracts had additional ocular lesions. Conclusions In the NCCCTS cohort, 11.6% of patients were diagnosed with cataracts. There was considerable variability in the presentation, morphology, and progression of the cataracts. Associated intraocular pathology was an important cause of morbidity. PMID:18086432

  3. [Genetics of congenital deafness].

    PubMed

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia

    2012-10-20

    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  4. Intonation Processing in Congenital Amusia: Discrimination, Identification and Imitation

    ERIC Educational Resources Information Center

    Liu, Fang; Patel, Aniruddh D.; Fourcin, Adrian; Stewart, Lauren

    2010-01-01

    This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing. In total, 16 British amusics and 16 matched controls completed five intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance…

  5. Intonation Processing in Congenital Amusia: Discrimination, Identification and Imitation

    ERIC Educational Resources Information Center

    Liu, Fang; Patel, Aniruddh D.; Fourcin, Adrian; Stewart, Lauren

    2010-01-01

    This study investigated whether congenital amusia, a neuro-developmental disorder of musical perception, also has implications for speech intonation processing. In total, 16 British amusics and 16 matched controls completed five intonation perception tasks and two pitch threshold tasks. Compared with controls, amusics showed impaired performance…

  6. Congenital osteolytic dural fibrosarcoma presenting as a scalp swelling.

    PubMed

    Brohi, Shams Raza; Dilber, Muzamil

    2012-08-01

    An extremely rare case of congenital dural fibrosarcoma is reported in a 2 months old child who presented with scalp swelling since birth. CT scan revealed an osteolytic lesion compressing the underlying atrophic brain. Tumour was completely excised and duroplasty was done with a patch graft. Postoperative CSF leak was managed with aspirations and lumbar puncture.

  7. Congenital urethral stenosis in a male miniature piglet

    PubMed Central

    Pouleur-Larrat, Bénédicte; Maccolini, Edouard; Carmel, Eric Norman; Hélie, Pierre

    2014-01-01

    A 2-month-old male miniature pig showed progressive abdominal pain, pollakiuria, and stranguria that progressed to complete urinary obstruction. Postmortem examination revealed idiopathic urethral stenosis at the level of the recess, of probable congenital origin. Urinary tract malformations should be included in the differential diagnosis of miniature piglets with urinary disorders. PMID:24891635

  8. Complete prewetting

    NASA Astrophysics Data System (ADS)

    Yatsyshin, P.; Parry, A. O.; Kalliadasis, S.

    2016-07-01

    We study continuous interfacial transitions, analagous to two-dimensional complete wetting, associated with the first-order prewetting line, which can occur on steps, patterned walls, grooves and wedges, and which are sensitive to both the range of the intermolecular forces and interfacial fluctuation effects. These transitions compete with wetting, filling and condensation producing very rich phase diagrams even for relatively simple prototypical geometries. Using microscopic classical density functional theory to model systems with realistic Lennard-Jones fluid-fluid and fluid-substrate intermolecular potentials, we compute mean-field fluid density profiles, adsorption isotherms and phase diagrams for a variety of confining geometries.

  9. Ectopia cordis: a rare congenital anomaly.

    PubMed

    Gabriel, Abigail; Donnelly, Joseph; Kuc, Alexander; Good, Daniel; Doros, Gabriela; Matusz, Petru; Loukas, Marios

    2014-11-01

    Ectopia cordis (EC) is a rare congenital anomaly associated with the heart positioned outside of the thoracic cavity either partially or completely. The ectopic heart can be found along a spectrum of anatomical locations, including the cervical, thoracic and abdominal regions and in most cases, it protrudes outside the chest through a split sternum. Although the first case of EC was identified during the early 1600s only 91 cases have been reported since then in the literature. This review will discuss the history and prevalence of EC, its etiology, morphology, presentation and symptoms, complications, diagnosis, treatment and management and prognosis. © 2014 Wiley Periodicals, Inc.

  10. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

    Congenital fibrinogen disorders comprise quantitative disorders defined by a complete absence (afibrinogenemia) or by a decreased level (hypofibrinogenemia) of circulating fibrinogen and qualitative disorders characterized by a discrepancy between the activity and the antigenic levels of fibrinogen (dysfibrinogenemia and hypodysfibrinogenemia). The biological diagnosis is based on a standard haemostasis assessment. All the coagulation tests that depend on the formation of fibrin as the end point are affected; although in dysfibrinogenemia the specificity and sensitivity of routine test depend on reagent and techniques. A genetic exploration permits to confirm the diagnosis and may enhance the prediction of the patient's phenotype. Homozygous or composite heterozygous null mutations are most often responsible for afibrinogenemia while hypofibrinogenemic patients are mainly heterozygous carrier of an afibrinogenemic allele. Heterozygous missense mutations are prevalent in dysfibrinogenemia, with two hot spot localized in exon 2 of the FGA and in the exon 8 of the FGG. The correlation between phenotype and genotype has been identified in some fibrinogen variants, including six mutations clustered in exons 8 and 9 of the FGG leading to hypofibrinogenemia with hepatic inclusions of abnormal fibrinogen aggregates as well as a few mutations associated with an increase risk of thrombotic events. A familial screening and additional functional assays should be carried out when possible.

  11. Self-Organized Stationary States of Tokamaks

    DOE PAGES

    Jardin, S. C.; Ferraro, N.; Krebs, I.

    2015-11-17

    We demonstrate that in a 3D resistive magnetohydrodynamic (MHD) simulation, for some parameters it is possible to form a stationary state in a tokamak where a saturated interchange mode in the center of the discharge drives a near helical flow pattern that acts to non-linearly sustain the configuration by adjusting the central loop voltage through a dynamo action. This could explain the physical mechanism for maintaining stationary non-sawtoothing “hybrid” discharges, often referred to as “flux-pumping”.

  12. Stationary light in cold-atomic gases

    SciTech Connect

    Nikoghosyan, Gor; Fleischhauer, Michael

    2009-07-15

    We discuss stationary light created by a pair of counterpropagating control fields in {lambda}-type atomic gases with electromagnetically induced transparency for the case of negligible Doppler broadening. In this case, the secular approximation used in the discussion of stationary light in hot vapors is no longer valid. We discuss the quality of the effective light-trapping system and show that in contrast to previous claims it is finite even for vanishing ground-state dephasing. The dynamics of the photon loss is in general nonexponential and can be faster or slower than in hot gases.

  13. Self-Organized Stationary States of Tokamaks

    SciTech Connect

    Jardin, S. C.; Ferraro, N.; Krebs, I.

    2015-11-17

    We demonstrate that in a 3D resistive magnetohydrodynamic (MHD) simulation, for some parameters it is possible to form a stationary state in a tokamak where a saturated interchange mode in the center of the discharge drives a near helical flow pattern that acts to non-linearly sustain the configuration by adjusting the central loop voltage through a dynamo action. This could explain the physical mechanism for maintaining stationary non-sawtoothing “hybrid” discharges, often referred to as “flux-pumping”.

  14. [Action Plan to Improve the Utilization of Stationary Bikes in a Health Promotion Exercise Program].

    PubMed

    Huang, Yu-Yen; Chen, Hsiu-Yuen; Wu, Chia-Chien; Chen, Yao-Mei

    2015-06-01

    Research has shown that exercise helps reduce the risk and the severity of metabolic syndrome. Since 2009, KMHK hospital has implemented a primary-prevention health promotion program that targets individuals who are at elevated risk of metabolic syndrome. The program engages participants in an exercise protocol that asks them to exercise regularly on a stationary bike three times a week for six months. The utilization rate of the stationary bikes averaged 75% in 2010, but reduced to 34.7% in 2011, with an average withdrawal rate of 24.3%. Therefore, an action team was assembled in order to enhance the effectiveness of the program. This project used two primary strategies to increase the utilization of stationary bikes. These strategies included: increasing referrals and decreasing withdrawals. Surveys of participants who, respectfully, failed to complete and successfully completed the exercise protocol were conducted to identify the factors associated with non-completion / completion. The enrollment policies, the equipment, and the environment were inspected comprehensively. After identifying the causes and effects, several interventions were implemented. These interventions included: installing insulation curtains to block direct sunlight, upgrading the stationary bikes to newer models, creating an environment more conducive to exercise, promoting the referral policies, marketing the health promotion program, and securing family support. After three months, the utilization rate of stationary bikes increased to 77.8%, representing an improvement rate of 124%. Furthermore, the number of case referrals significantly increased and the withdrawal rate decreased to 4.8%. Finally, longer-term follow up indicates that the utilization rate and the withdrawal rate have continued to improve. The program implemented in the present study successfully enrolled more participants in the exercise protocol, as evidenced by the increased utilization of stationary bikes and by the

  15. Hybrid interventional procedures in congenital heart disease.

    PubMed

    Holoshitz, Noa; Kenny, Damien; Hijazi, Ziyad M

    2014-01-01

    The evolution of congenital cardiac surgery has seen significant innovative advances in collaborative efforts between congenital cardiac surgeons and interventionalists to provide the least invasive intervention with the greatest hemodynamic benefit for patients with congenital heart disease. This review looks at how this collaborative approach has evolved and is being applied to treat a number of congenital conditions across the age ranges.

  16. Dynamics of Aerosol Particles in Stationary, Isotropic Turbulence

    NASA Technical Reports Server (NTRS)

    Collins, Lance R.; Meng, Hui

    2004-01-01

    A detailed study of the dynamics of sub-Kolmogorov-size aerosol particles in stationary isotropic turbulence has been performed. The study combined direct numerical simulations (DNS; directed by Prof. Collins) and high-resolution experimental measurements (directed by Prof. Meng) under conditions of nearly perfect geometric and parametric overlap. The goal was to measure the accumulation of particles in low-vorticity regions of the flow that arises from the effect commonly referred to as preferential concentration. The grant technically was initiated on June 13, 2000; however, funding was not available until July 11, 2000. The grant was originally awarded to Penn State University (numerical simulations) and SUNY-Buffalo (experiments); however, Prof. Collins effort was moved to Cornell University on January 2002 when he joined that university. He completed the study there. A list of the specific tasks that were completed under this study is presented.

  17. Complicated Congenital Dislocation of the Knee: A Case Report

    PubMed Central

    Madadi, Firooz; Tahririan, Mohammad A.; Karami, Mohsen; Madadi, Firoozeh

    2016-01-01

    Congenital dislocation of the knee (CDK) is a rare disorder. We report the case of a 7-year-old girl with bilateral knee stiffness, marked anterior bowing of both legs, and inability to walk without aid. Radiologic investigation revealed bilateral knee joint dislocation accompanied by severe anterior bowing of both tibia proximally and posterior bowing of both femur distally, demonstrating a complicated congenital knee dislocation. Two-staged open reduction with proximal tibial osteotomy was performed to align the reduced knee joints. The patient was completely independent in her daily activities after surgical correction. PMID:27847857

  18. Nitric oxide-sensitive pulmonary hypertension in congenital rubella syndrome.

    PubMed

    Raimondi, Francesco; Migliaro, Fiorella; Di Pietro, Elisa; Borgia, Francesco; Rapacciuolo, Antonio; Capasso, Letizia

    2015-01-01

    Persistent pulmonary hypertension is a very rare presentation of congenital virus infection. We discuss the case of complete congenital rubella syndrome presenting at echocardiography with pulmonary hypertension that worsened after ductus ligation. Cardiac catheterization showed a normal pulmonary valve and vascular tree but a PAP = 40 mmHg. The infant promptly responded to inhaled nitric oxide while on mechanical ventilation and was later shifted to oral sildenafil. It is not clear whether our observation may be due to direct viral damage to the endothelium or to the rubella virus increasing the vascular tone via a metabolic derangement.

  19. Characterizing congenital amusia.

    PubMed

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  20. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

    Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.

  1. [Congenital lobar emphysema].

    PubMed

    Belio-Castillo, C; Prado-Pallares, M; Blanco-Rodríguez, G

    1991-05-01

    This article includes the way cases of congenital lobe emphysema were treated at the Hospital Infantil de México "Federico Gómez" during 1971 to 1989. A total of 17 cases were gathered, 13 were males and 4 were females; admittance age varied from 13 days to 3 years. The children's main symptoms were respiratory failure and cyanosis. The diagnosis was enhanced by a chest X-ray where lobe hyperclarity was detected, as well as a deviation of the mediastinum and a collapsed lung. A lobectomy was performed in all cases. The upper left lobe was seen to be the most affected. Two of the children died. It is important to recognize this disease early on and conduct prompt surgical treatment.

  2. Congenital macroglossal angiodysplasia ("Lymphangioendotheliomatosis").

    PubMed

    Bakaeen, G; Winkler, S; Bakaeen, L; Rehani, L A; Katsetos, C D

    2000-09-01

    A case of congenital lingual angiodysplasia with macroglossia in a 5-year-old girl is presented. A diffusely enlarged tongue was present at birth and continued to grow as the child aged. It was accompanied by impaired speech, difficulty in eating and breathing, and sleep apnea, necessitating surgical intervention. The fundamental lesion represents a complex vascular malformation of the lymphangioma-hemangioma type, involving extensively the deep musculature of the tongue. Multifocal and multicentric cavernous lymphangioma-like and hemangioma-like areas merge with benign angioendotheliomatous-like foci in a background of variable muscle degeneration and marked fibrosis. Neither a borderline nor an overtly malignant vasoformative neoplasm was present. Because of its distinctively widespread, multicentric intramuscular distribution, this lesion may be construed as a diffuse variant of lingual lymphangioma-hemangioma malformation, closely resembling a previously described case of macroglossal lymphangioendotheliomatosis.

  3. Congenital mirror movements.

    PubMed Central

    Schott, G D; Wyke, M A

    1981-01-01

    In this report are described seven patients assessed clinically and neuropsychologically in whom mirror movements affecting predominantly the hands occurred as a congenital disorder. These mirror movements, representing a specific type of abnormal synkinesia, may arise as a hereditary condition, in the presence of a recognisable underlying neurological abnormality, and sporadically, and the seven patients provide more or less satisfactory examples of each of these three groups. Despite the apparent uniformity of the disorder, the heterogeneity and variability may be marked, examples in some of our patients including the pronounced increase in tone that developed with arm movement, and the capacity for modulation of the associated movement by alteration of neck position and bio-feedback. Various possible mechanisms are considered; these include impaired cerebral inhibition of unwanted movements, and functioning of abnormal motor pathways. Emphasis has been placed on the putative role of the direct, crossed corticomotoneurone pathways and on the unilateral and bilateral cerebral events that precede movement. PMID:7288446

  4. Stationary Cycling and Children with Cerebral Palsy: Case Reports for Two Participants

    ERIC Educational Resources Information Center

    Siebert, Kara L.; DeMuth, Sharon K.; Knutson, Loretta M.; Fowler, Eileen G.

    2010-01-01

    These case reports describe a stationary cycling intervention and outcomes for two child participants (P1 and P2) with spastic diplegic cerebral palsy. Each child completed a 12-week, 30-session cycling intervention consisting of strengthening and cardiorespiratory fitness phases. P1 exhibited higher training intensities, particularly during the…

  5. Stationary Engineers Apprenticeship. Related Training Modules. 9.1-9.6 Refrigeration.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of six learning modules on refrigeration is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: goal, performance indicators, statement of…

  6. Stationary Engineers Apprenticeship. Related Training Modules. 2.1-2.6 Safety.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of six learning modules on safety is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: goal, performance indicators, study guide (a…

  7. Stationary Engineers Apprenticeship. Related Training Modules. 10.1-10.5 Machine Components.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of five learning modules on machine components is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: goal, performance indicators, statement…

  8. Stationary Engineers Apprenticeship. Related Training Modules. 8.1-8.13 Hydraulics.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of 13 learning modules on hydraulics is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: goal, performance indicators, study guide (a…

  9. Stationary Cycling and Children with Cerebral Palsy: Case Reports for Two Participants

    ERIC Educational Resources Information Center

    Siebert, Kara L.; DeMuth, Sharon K.; Knutson, Loretta M.; Fowler, Eileen G.

    2010-01-01

    These case reports describe a stationary cycling intervention and outcomes for two child participants (P1 and P2) with spastic diplegic cerebral palsy. Each child completed a 12-week, 30-session cycling intervention consisting of strengthening and cardiorespiratory fitness phases. P1 exhibited higher training intensities, particularly during the…

  10. Stationary Engineers Apprenticeship. Related Training Modules. 4.1-4.5 Tools.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of five learning modules on tools is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: a lesson goal, performance indicators, study guide…

  11. Stationary Engineers Apprenticeship. Related Training Modules. 5.1-5.17 Electricity/Electronics.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of 17 learning modules on electricity/electronics is one of 20 such packets developed for apprenticeship training for stationary engineers. Introductory materials are a complete listing of all available modules and a supplementary reference list. Each module contains some or all of these components: goal, performance indicators,…

  12. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

  13. Stationary orbits around the Earth and Mars.

    NASA Astrophysics Data System (ADS)

    Wytrzyszczak, I.

    A comparison of stationary orbits around Earth and Mars is drawn. A qualitative image of the individual harmonics of the planet's potential or of some of their groups is presented with its influence on the positions of equilibria. The spectral stability of Martian λ2 and λ4 points is proved.

  14. Calendar Year 2016 Stationary Source Emissions Inventory

    SciTech Connect

    Evelo, Stacie

    2017-01-01

    The City of Albuquerque (COA) Environmental Health Department Air Quality Program has issued stationary source permits and registrations the Department of Energy/Sandia Field Office for operations at the Sandia National Laboratories/New Mexico. This emission inventory report meets the annual reporting compliance requirements for calendar year (CY) 2016 as required by the COA.

  15. Stationary Flux in Mesoscopic Noisy Cylinders

    NASA Astrophysics Data System (ADS)

    Dajka, J.; Łuczka, J.; Szopa, M.

    2003-07-01

    The aim of this paper is to investigate the existence of the stationary states of current in the mesoscopic cylinder. The dynamics of the flux is governed by a stochastic differential equation. We discuss both the influence of equilibrium (thermal) and non-equilibrium noise sources.

  16. Test profiles for stationary energy storage applications

    SciTech Connect

    Butler, P.C.; Cole, J.F.; Taylor, P.A.

    1998-09-01

    Evaluation of battery and other energy storage technologies for stationary uses is progressing rapidly toward application-specific testing that uses computer-based data acquisition and control equipment, active electronic loads and power supplies, and customized software, to enable sophisticated test regimes that simulate actual use conditions. These simulated-use tests provide more accurate performance and life evaluations than simple constant resistance or current testing regimes. Some of the tests use stepped constant-power charge and discharge regimes to simulate conditions created by electric utility applications such as frequency regulation and spinning reserve. Other test profiles under development simulate conditions for the energy storage component of Remote Area Power Supplies (RAPS) that include renewable and/or fossil-fueled generators. Various RAPS applications have unique sets of service conditions that require specialized test profiles. However, almost all RAPS tests and many tests that represent other stationary applications need to simulate significant time periods during which storage devices operate at low-to-medium states-of-charge without full recharge. Consideration of these and similar issues in simulated-use test regimes is necessary to effectively predict the responses of the various types of batteries in specific stationary applications. This paper describes existing and evolving stationary applications for energy storage technologies and test regimes that are designed to simulate them. The paper also discusses efforts to develop international testing standards.

  17. Stationary Waves of the Ice Age Climate.

    NASA Astrophysics Data System (ADS)

    Cook, Kerry H.; Held, Isaac M.

    1988-08-01

    A linearized, steady state, primitive equation model is used to simulate the climatological zonal asymmetries (stationary eddies) in the wind and temperature fields of the 18 000 YBP climate during winter. We compare these results with the eddies simulated in the ice age experiments of Broccoli and Manabe, who used CLIMAP boundary conditions and reduced atmospheric CO2 in an atmospheric general circulation model (GCM) coupled with a static mixed layer ocean model. The agreement between the models is good, indicating that the linear model can be used to evaluate the relative influences of orography, diabatic heating, and transient eddy heat and momentum transports in generating stationary waves. We find that orographic forcing dominates in the ice age climate. The mechanical influence of the continental ice sheets on the atmosphere is responsible for most of the changes between the present day and ice age stationary eddies. This concept of the ice age climate is complicated by the sensitivity of the stationary eddies to the large increase in the magnitude of the zonal mean meridional temperature gradient simulated in the ice age GCM.

  18. Stationary solutions and asymptotic flatness I

    NASA Astrophysics Data System (ADS)

    Reiris, Martin

    2014-08-01

    In general relativity, a stationary isolated system is defined as an asymptotically flat (AF) stationary spacetime with compact material sources. Other definitions that are less restrictive on the type of asymptotic could in principle be possible. Between this article and its sequel, we show that under basic assumptions, asymptotic flatness indeed follows as a consequence of Einstein's theory. In particular, it is proved that any vacuum stationary spacetime-end whose (quotient) manifold is diffeomorphic to {{{R}}^{3}} minus a ball and whose Killing field has its norm bounded away from zero, is necessarily AF with Schwarzschildian fall off. The ‘excised’ ball would contain (if any) the actual material body, but this information is unnecessary to reach the conclusion. In this first article, we work with weakly asymptotically flat (WAF) stationary ends, a notion that generalizes as much as possible that of the AF end, and prove that WAF ends are AF with Schwarzschildian fall off. Physical and mathematical implications are also discussed.

  19. 1989 SYMPOSIUM ON STATIONARY COMBUSTION NOX CONTROL

    EPA Science Inventory

    This paper summarizes information and results presented at the 1989 Symposium on Stationary Combustion NOX Control, held March 6-9, 1989 in San Francisco. Cosponsored by the Electric Power Research Institute (EPRI) and the U.S. Environmental Protection Agency (EPA), the symposiu...

  20. Damping device for a stationary labyrinth seal

    NASA Technical Reports Server (NTRS)

    El-Aini, Yehia M. (Inventor); Mitchell, William S. (Inventor); Roberts, Lawrence P. (Inventor); Montgomery, Stuart K. (Inventor); Davis, Gary A. (Inventor)

    2010-01-01

    A stationary labyrinth seal system includes a seal housing having an annular cavity, a plurality of damping devices, and a retaining ring. The damping devices are positioned within the annular cavity and are maintained within the annular cavity by the retaining ring.

  1. Stationary Engineering. Science 2. Teachers Guide.

    ERIC Educational Resources Information Center

    Frost, Harold J.; Steingress, Frederick M.

    This teachers guide to be used with the second-year student manual, "Stationary Engineering Science Manual--2," contains 140 lesson plans, corresponding to the lessons in the student manual. The lessons are brief and each involves concrete trade experiences where science is applied with 26 lessons also involving mathematical problems…

  2. Stationary convection in a cylindrical plasma

    SciTech Connect

    Gomberoff, L.; Hernandez, M.

    1983-02-01

    It is shown that viscosity and thermal conductivity leads to large-scale steady convection in a cylindrical current-carrying plasma, under the influence of a magnetic field satisfying (B/sub theta//B/sub z/)>>1. This state is the analog in a plasma of stationary convection in ordinary hydrodynamics.

  3. Clinical and socioeconomic determinants of congenital syphilis in Posadas, Argentina.

    PubMed

    Parker, Lucy Anne; Deschutter, Enrique Jorge; Bornay-Llinares, Fernando Jorge; Hernandez-Aguado, Ildefonso; Silva, Gustavo; Piragine, Rosa Del Carmen; Lumbreras, Blanca

    2012-04-01

    To explore clinical and socioeconomic factors related to congenital syphilis in Posadas, Argentina. Data were collected from 102 mothers who had given birth to an infant with congenital syphilis at Dr. Ramón Madariaga Central Hospital (2005-2007) and 306 control mothers. Clinical and demographic information were collected from clinical records, and socioeconomic details were obtained by interview. Multivariable logistic regression was used to explore the relationships between congenital syphilis and clinical and socioeconomic factors. Receiving the recommended number of prenatal health checks had a clear protective effect on congenital syphilis in the univariate analysis (odds ratio (OR) 0.52, 95% confidence interval (CI) 0.31-0.86), as did being in a stable relationship (OR 0.23, 95% CI 0.14-0.38). Furthermore, women with secondary education or above were over four-times less likely to have a child with congenital syphilis compared to women who had not completed primary school education, even after controlling for the number of prenatal health checks and other factors (adjusted OR 0.24, 95% CI 0.08-0.72). In addition, women with previous stillborn births were over three-times more likely to have a baby with congenital syphilis after controlling for education and prenatal care (adjusted OR 3.37, 95% CI 1.24-9.16). There is a clear opportunity for reducing the burden of congenital syphilis by promoting syphilis screening and treatment in women with previous stillborn births. In addition, the potential impact of more general policies addressing social determinants of health, such as those improving education, must not be overlooked. Copyright © 2012 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  4. [Congenital preauricular fistula infection: a histopathology observation].

    PubMed

    Hua, Na; Wei, Lai; Jiang, Tao; Guo, Ying; Wang, Meiyi; Wang, Zhiqiang

    2014-08-01

    To investigate the pathology characteristics of congenital preauricular fistula with infection, in order to reduce the recurrence rate after surgery and improve operative technique. Twenty-five patients diagnosed as congenital preauricular fistula with infection were analyzed. There were 14 patients in infection history group, 9 in infective stage group, and 2 in recurrence group respectively. The whole piece of fistula and scar tissue was completely excised during operation. The specimens were observed by naked eye and serial tissue sections were analyzed. (1) Macroscopically, in infection history group, initial morphology can be maintained near the fistula orifice, but the distal tissue was dark red scar tissue. In infective stage group, the distal tissue of the specimens was granulation tissue and cicatricial tissue. The granulation tissue was crisp and bright red. In recurrence group, multicystic lesions with severe edema was observed, with a classical dumb-bell appearence. (2) Microscopically, in infection history group and recurrence group, we can see that the distal fistula tissue was discontinuous and was separated by scar tissue. In infective stage group, we can find neo-angiogenesis and infiltration of plasma cells, lymphocytes, neutrophil between interrupted fistula tissues. (3) All patients were followed up for 6-12 month, without recurrence. The fistula tissue of congenital preauricular fistula with infection was divided by the scar tissue, and they did not communicate with each other. Complete delineation of fistula is hardly achieved by methylene blue staining. Radical excision of the fistula and scar tissue may help to avoid leaving viable squamous epithelial remnants and reduce the recurrence rate.

  5. Solutions of generic bilinear master equations for a quantum oscillator-Positive and factorized conditions on stationary states

    NASA Astrophysics Data System (ADS)

    Tay, B. A.

    2017-07-01

    We obtain the solutions of the generic bilinear master equation for a quantum oscillator with constant coefficients in the Gaussian form. The well-behavedness and positive semidefiniteness of the stationary states could be characterized by a three-dimensional Minkowski vector. By requiring the stationary states to satisfy a factorized condition, we obtain a generic class of master equations that includes the well-known ones and their generalizations, some of which are completely positive. A further subset of the master equations with the Gibbs states as stationary states is also obtained. For master equations with not completely positive generators, an analysis on the stationary states for a given initial state suggests conditions on the coefficients of the master equations that generate positive evolution.

  6. Stationary plasma thruster evaluation in Russia

    NASA Technical Reports Server (NTRS)

    Brophy, John R.

    1992-01-01

    A team of electric propulsion specialists from U.S. government laboratories experimentally evaluated the performance of a 1.35-kW Stationary Plasma Thruster (SPT) at the Scientific Research Institute of Thermal Processes in Moscow and at 'Fakel' Enterprise in Kaliningrad, Russia. The evaluation was performed using a combination of U.S. and Russian instrumentation and indicated that the actual performance of the thruster appears to be close to the claimed performance. The claimed performance was a specific impulse of 16,000 m/s, an overall efficiency of 50 percent, and an input power of 1.35 kW, and is superior to the performance of western electric thrusters at this specific impulse. The unique performance capabilities of the stationary plasma thruster, along with claims that more than fifty of the 660-W thrusters have been flown in space on Russian spacecraft, attracted the interest of western spacecraft propulsion specialists. A two-phase program was initiated to evaluate the stationary plasma thruster performance and technology. The first phase of this program, to experimentally evaluate the performance of the thruster with U.S. instrumentation in Russia, is described in this report. The second phase objective is to determine the suitability of the stationary plasma thruster technology for use on western spacecraft. This will be accomplished by bringing stationary plasma thrusters to the U.S. for quantification of thruster erosion rates, measurements of the performance variation as a function of long-duration operation, quantification of the exhaust beam divergence angle, and determination of the non-propellant efflux from the thruster. These issues require quantification in order to maximize the probability for user application of the SPT technology and significantly increase the propulsion capabilities of U.S. spacecraft.

  7. Efficacy of bipolar release in neglected congenital muscular torticollis patients.

    PubMed

    Seyhan, Nevra; Jasharllari, Lorenc; Keskin, Mustafa; Savacı, Nedim

    2012-06-01

    Surgical correction of the congenital muscular torticollis (CMT) is recommended for patients with unsuccessful conservative treatment. The aim of this study is to evaluate the efficacy of surgical release of congenital muscular torticollis in neglected cases. We retrospectively evaluated the data of our patients in terms of age, sex, clinical presentation, localization of the lesion, diagnostic tests, and additional abnormalities. The age at operation ranged from 6 to 23 years. Complete muscular release as determined by pre-operative and postoperative range of motion measurements was achieved in all of the patients by bipolar release. In this study, neck motion and head tilt showed marked improvement with surgical treatment in cases with CMT who were admitted to the hospital lately. Congenital muscular torticollis patients can benefit from surgical intervention above the age of 5. Bipolar release is an adequate and complication-free method.

  8. Genetics Home Reference: congenital afibrinogenemia

    MedlinePlus

    ... Neerman-Arbez M. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four ... qualified healthcare professional . About Selection Criteria for Links Data Files & API Site Map Customer Support USA.gov ...

  9. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

    Photoaversion is a prominent symptom of a number of infantile genetic ocular disorder such as congenital glaucoma, aniridia, albinism, and cone dystrophies including achromatopsia. Photoaversion has not been widely recognized as a clinical feature of Leber's congenital amaurosis. We present two patients who were diagnosed clinically with achromatopsia because of nystagmus, absent color vision, reduced visual acuity, and moderately severe photoaversion in the absence of anterior segment abnormalities. The photopic and scotopic responses of the electroretinogram (E R G) were nonrecordable in both patients indicating involvement of both cone and rod systems. The diagnosis was then revised to one of Leber's congenital amaurosis. Photoaversion can be a prominent clinical feature in some patients with Leber's congenital amaurosis. The E R G clinches the diagnosis. These patients may constitute a distinct genetic subtype of the disease and molecular genetic studies will help resolve this issue.

  10. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

    The causation of congenital malformation is receiving increased study. In Canada, epidemiologic surveys are being planned, based upon the institution of Provincial Registries to which physicians and other agencies will voluntarily report cases coming to their attention. The literature in regard to prevalence studies of congenital cardiac defects in school children is reviewed. Over the past 25 years, studies employing the proposed technique demonstrated a rising trend, from 1.4 per 1000 to 2.6 per 1000. By contrast, specific surveys for congenital cardiac defect carried out by expert personnel using radiographs and electrocardiographs, resulted in essentially uniform rates, approximating 5 to 6 per 1000. It is concluded that the latter is a superior technique of epidemiologic survey over the “Central Registry” method, and should command a due proportion of health resources directed towards congenital malformation research. PMID:5914837

  11. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

    Sarin, Yogesh Kumar; Raj, Prince; Arya, Mona; Dali, Jaspal Singh

    2017-01-01

    Congenital syngnathia is an extremely rare condition with no standardized treatment. We hereby report a case highlighting the difficulties faced in its management and the postoperative complications. PMID:28083498

  12. Congenital stenosis and adjacent segment disease in the cervical spine.

    PubMed

    Eubanks, Jason David; Belding, Jon; Schnaser, Erik; Rowan, Andrew; Moffitt, Gable; Weaver, John; Reich, Michael S; Bechtel, Chris; Xie, Ke; Gande, Abhiram; Hohl, Justin; Braly, Brett; Hilibrand, Alan; Kang, James D

    2013-10-01

    Symptomatic adjacent segment disease (ASD) after anterior cervical fusion (ACF) is reported in 25% of patients at 10 years postoperatively. Debate continues as to whether this degeneration is due to the natural history of the disk or the changed biomechanics after ACF. This study explored whether congenital stenosis predisposes patients to an increased incidence of ASD after ACF. A retrospective review of 635 patients with myelopathy or radiculopathy was performed; 364 patients had complete records for review. Patients underwent 1- to 5-level ACF (94 one-level, 145 two-level, 79 three-level, 45 four-level, and 1 five-level). Radiographs were evaluated for bony congenital stenosis using validated parameters, and ASD was measured according to Hilibrand's criteria and correlated with symptomatic ASD. Congenital stenosis was found in 21.7% of patients and radiographic ASD in 33.5%, with a significant association between these parameters. However, symptomatic ASD occurred in 11.8% of patients; no association between congenital stenosis and symptomatic ASD or myelopathy and ASD was found. Clinical results demonstrated excellent or good Robinson scores in 86.2% of patients and Odom scores in 87% of patients. Despite mostly excellent to good outcomes, symptomatic ASD is common after ACF. Although congenital stenosis appears to increase the incidence of radiographic ASD, it does not appear to predict symptomatic ASD.

  13. Exact Stationary and Non-stationary Solutions to Inelastic Maxwell Model with Infinite Energy

    NASA Astrophysics Data System (ADS)

    Ilyin, Oleg

    2016-11-01

    The one-dimensional inelastic Boltzmann equation with a constant collision rate (the Maxwell model) is considered. It is shown that for special values of restitution parameter there exists a stationary solution with the characteristic function in the form e^{-P(log (z))z}, where P is a periodic function. The corresponding distribution function belongs to a one special class of stochastic processes termed as a generalized stable in the probability theory. The Fourier transform of the non-stationary equation has the solution bigl (1+P(log (z))zbigr )e^{-Q(log (z))z}. It is proved that this solution is a characteristic function if periodic functions P, Q satisfy some not very restrictive conditions. The stationary and non-stationary solutions correspond to a gas with infinite temperature.

  14. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

    Congenital adrenal hyperplasia is a life-long disease requiring an integrated therapy. It may negatively influence the quality of life. In childhood, the main problems of the care of these patients involve sex determination and ensuring optimum growth and puberty. The therapeutic goals for adults are the prevention of Addisonian crisis and ensuring the best possible quality of life, including fertility.Key words: androgens - cardiovascular risk - congenital adrenal hyperplasia - bone density - testicular rest tumors.

  15. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

    The technique of amniocentesis, by which an abnormal fetus can be detected in utero, has brought a technological advance in medical science but attendant medical and moral problems. Dr Seller describes those congenital disabilities which can be detected in the fetus before birth, for which the "remedy" is selective abortion. She then discusses the arguments for and against selective abortion, for the issue is not simple, even in the strictly genetic sense of attempting to ensure a population free of congenital abnormality.

  16. Complete Makeover

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

    Released July 23, 2004 The atmosphere of Mars is a dynamic system. Water-ice clouds, fog, and hazes can make imaging the surface from space difficult. Dust storms can grow from local disturbances to global sizes, through which imaging is impossible. Seasonal temperature changes are the usual drivers in cloud and dust storm development and growth.

    Eons of atmospheric dust storm activity has left its mark on the surface of Mars. Dust carried aloft by the wind has settled out on every available surface; sand dunes have been created and moved by centuries of wind; and the effect of continual sand-blasting has modified many regions of Mars, creating yardangs and other unusual surface forms.

    We finish our look at Mars's dynamic atmosphere with an image of the surface that has been completely modified by the wind. Even the small ridges that remain have been ground down to a cliff-face with a 'tail' of eroded material. The crosshatching shows that the wind regime has remained mainly E/W to ENE/WSW.

    Image information: VIS instrument. Latitude 8.9, Longitude 221 East (139 West). 19 meter/pixel resolution.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip

  17. Complete Makeover

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

    Released July 23, 2004 The atmosphere of Mars is a dynamic system. Water-ice clouds, fog, and hazes can make imaging the surface from space difficult. Dust storms can grow from local disturbances to global sizes, through which imaging is impossible. Seasonal temperature changes are the usual drivers in cloud and dust storm development and growth.

    Eons of atmospheric dust storm activity has left its mark on the surface of Mars. Dust carried aloft by the wind has settled out on every available surface; sand dunes have been created and moved by centuries of wind; and the effect of continual sand-blasting has modified many regions of Mars, creating yardangs and other unusual surface forms.

    We finish our look at Mars's dynamic atmosphere with an image of the surface that has been completely modified by the wind. Even the small ridges that remain have been ground down to a cliff-face with a 'tail' of eroded material. The crosshatching shows that the wind regime has remained mainly E/W to ENE/WSW.

    Image information: VIS instrument. Latitude 8.9, Longitude 221 East (139 West). 19 meter/pixel resolution.

    Note: this THEMIS visual image has not been radiometrically nor geometrically calibrated for this preliminary release. An empirical correction has been performed to remove instrumental effects. A linear shift has been applied in the cross-track and down-track direction to approximate spacecraft and planetary motion. Fully calibrated and geometrically projected images will be released through the Planetary Data System in accordance with Project policies at a later time.

    NASA's Jet Propulsion Laboratory manages the 2001 Mars Odyssey mission for NASA's Office of Space Science, Washington, D.C. The Thermal Emission Imaging System (THEMIS) was developed by Arizona State University, Tempe, in collaboration with Raytheon Santa Barbara Remote Sensing. The THEMIS investigation is led by Dr. Philip

  18. An Overview of Congenital Myopathies.

    PubMed

    Mah, Jean K; Joseph, Jeffrey T

    2016-12-01

    This article uses a case-based approach to highlight the clinical features as well as recent advances in molecular genetics, muscle imaging, and pathophysiology of the congenital myopathies. Congenital myopathies refer to a heterogeneous group of genetic neuromuscular disorders characterized by early-onset muscle weakness, hypotonia, and developmental delay. Congenital myopathies are further classified into core myopathies, centronuclear myopathies, nemaline myopathies, and congenital fiber-type disproportion based on the key pathologic features found in muscle biopsies. Genotype and phenotype correlations are hampered by the diverse clinical variability of the genes responsible for congenital myopathies, ranging from a severe neonatal course with early death to mildly affected adults with late-onset disease. An increasing number of genes have been identified, which, in turn, are associated with overlapping morphologic changes in the myofibers. Precise genetic diagnosis has important implications for disease management, including family counseling; avoidance of anesthetic-related muscle injury for at-risk individuals; monitoring for potential cardiac, respiratory, or orthopedic complications; as well as for participation in clinical trials or potential genetic therapies. Collaboration with neuromuscular experts, geneticists, neuroradiologists, neuropathologists, and other specialists is needed to ensure accurate and timely diagnosis based on clinical and pathologic features. An integrated multidisciplinary model of care based on expert-guided standards will improve quality of care and optimize outcomes for patients and families with congenital myopathies.

  19. [Congenital heart diseases in women].

    PubMed

    Putotto, Carolina; Unolt, Marta; Caiaro, Angela; Marino, Dario; Massaccesi, Valerio; Marino, Bruno; Digilio, Maria Cristina

    2013-02-01

    Are there gender differences in prevalence, surgical results and long-term survival of patients with congenital heart disease? Available literature data allow us to state what follows. At birth there is a mild but significant prevalence of congenital heart disease in females. The most severe congenital heart diseases are less frequent in girls, but when they are present in females, they are linked to a higher surgical mortality rate, due perhaps to lower weight at birth and to the prevalence of extracardiac malformations and/or of associated genetic syndromes. On the other hand, in adults, surgery for congenital heart disease is at higher risk in males, and so the long-term survival rate is higher in females. Particular psychological attitudes, a higher incidence of pulmonary hypertension, as well as specific problems linked to the reproductive function characterize congenital heart disease in adult women. The knowledge and analysis of these data are essential for a correct management of congenital heart disease in neonates, children and adults.

  20. Huge Neck Masses Causing Respiratory Distress in Neonates: Two Cases of Congenital Cervical Teratoma.

    PubMed

    Gezer, Hasan Özkan; Oğuzkurt, Pelin; Temiz, Abdulkerim; Bolat, Filiz Aka; Hiçsönmez, Akgün

    2016-12-01

    Congenital cervical teratomas are rare and usually large enough to cause respiratory distress in the neonatal period. We present two cases of congenital huge cystic neck masses in which distinguishing cervical cystic hygroma and congenital cystic teratoma was not possible through radiologic imaging techniques. Experience with the first case, which was initially diagnosed and treated as cystic hygroma by injection sclerotherapy, led to early suspicion and surgery in the second case. The masses were excised completely and histopathologic diagnoses were congenital teratoma in both patients. Our aim is to review congenital huge neck masses causing respiratory distress in early neonatal life to highlight this dilemma briefly with these interesting cases. Copyright © 2014. Published by Elsevier B.V.

  1. Thermal Tides and Stationary Waves Revealed by MGS TES

    NASA Technical Reports Server (NTRS)

    Banfield, D.; Conrath, B. J.; Pearl, J. C.; Smith, M. D.; Gierasch, P. J.; P. R. Christensen

    1999-01-01

    Atmospheric temperature retrievals from TES observed radiances make possible the most complete separation of the constituent wave modes evident in Mars atmosphere to date. We use all of the data from the pre-mapping mission phase, which affords good sampling of the diurnal tides and stationary waves. TES retrievals of atmospheric temperature on a grid of pressure levels are the fundamental data set in this study. We then fit this data to selected fourier modes in longitude and time for latitude and L(sub s) bins. From this we have identified the amplitudes and phases of the diurnal and semi-diurnal tides, the first few (gravest) stationary waves and standing waves, as well as an estimate of the zonal and time mean temperature meridional cross sections. These results will be compared with existing models and theory. A possible critical layer for the sun-synchronous diurnal tide may indicate 40 m/s surface zonal wind near 50S for L(sub s) =255-285. Additional information is contained in the original extended abstract.

  2. Framework for Assessing Biogenic CO2 Emissions from Stationary Sources

    EPA Science Inventory

    This revision of the 2011 report, Accounting Framework for Biogenic CO2 Emissions from Stationary Sources, evaluates biogenic CO2 emissions from stationary sources, including a detailed study of the scientific and technical issues associated with assessing biogenic carbon dioxide...

  3. Framework for Assessing Biogenic CO2 Emissions from Stationary Sources

    EPA Science Inventory

    This revision of the 2011 report, Accounting Framework for Biogenic CO2 Emissions from Stationary Sources, evaluates biogenic CO2 emissions from stationary sources, including a detailed study of the scientific and technical issues associated with assessing biogenic carbon dioxide...

  4. Efficient generation of propagation-invariant spatially stationary partially coherent fields

    NASA Astrophysics Data System (ADS)

    Aarav, Shaurya; Bhattacharjee, Abhinandan; Wanare, Harshawardhan; Jha, Anand K.

    2017-09-01

    We propose and demonstrate a method for generating propagation-invariant spatially stationary fields in a controllable manner. Our method relies on producing incoherent mixtures of plane waves using planar primary sources that are spatially completely uncorrelated. The strengths of the individual plane waves in the mixture determine the exact functional form of the generated coherence function. We use light-emitting diodes as the primary incoherent sources and experimentally demonstrate the effectiveness of our method by generating several spatially stationary fields, including a type that we refer to as the regionwise spatially stationary field. We also experimentally demonstrate the propagation invariance of these fields, which is an extremely interesting and useful property of such fields. Our work should have important implications for applications that exploit the spatial coherence properties either in a transverse plane or in a propagation-invariant manner, such as correlation holography, wide-field optical coherence tomography, and imaging through turbulence.

  5. Universal portfolios generated by weakly stationary processes

    NASA Astrophysics Data System (ADS)

    Tan, Choon Peng; Pang, Sook Theng

    2014-12-01

    Recently, a universal portfolio generated by a set of independent Brownian motions where a finite number of past stock prices are weighted by the moments of the multivariate normal distribution is introduced and studied. The multivariate normal moments as polynomials in time consequently lead to a constant rebalanced portfolio depending on the drift coefficients of the Brownian motions. For a weakly stationary process, a different type of universal portfolio is proposed where the weights on the stock prices depend only on the time differences of the stock prices. An empirical study is conducted on the returns achieved by the universal portfolios generated by the Ornstein-Uhlenbeck process on selected stock-price data sets. Promising results are demonstrated for increasing the wealth of the investor by using the weakly-stationary-process-generated universal portfolios.

  6. Stationary Phonon Squeezing by Optical Polaron Excitation

    NASA Astrophysics Data System (ADS)

    Papenkort, T.; Axt, V. M.; Kuhn, T.

    2017-03-01

    We demonstrate that a stationary squeezed phonon state can be prepared by a pulsed optical excitation of a semiconductor quantum well. Unlike previously discussed scenarios for generating squeezed phonons, the corresponding uncertainties become stationary after the excitation and do not oscillate in time. The effect is caused by two-phonon correlations within the excited polaron. We demonstrate by quantum kinetic simulations and by a perturbation analysis that the energetically lowest polaron state comprises two-phonon correlations which, after the pulse, result in an uncertainty of the lattice momentum that is continuously lower than in the ground state of the semiconductor. The simulations show the dynamics of the polaron formation process and the resulting time-dependent lattice uncertainties.

  7. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported.

  8. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

    Knowledge of consanguinity is relevant for employees in the Danish national health service, since about 7.5% of the Danish population has another ethnic background than Danish and the majority comes from cultures where consanguineous marriages are not unusual. In the literature it is found that consanguineous couples have a higher risk of having children with congenital malformations. The risk is increased by a factor 2 to 2 1/2. The average risk in Denmark is about 3%. Primarily, the autosomal recessive diseases are expressed in children with consanguineous parents. In order to advise and diagnose it is essential to clarify the consanguinity state. In case of pregnancy with consanguineous parents, we recommend: 1) Counselling to estimate the risk of foetal illness and information about possible examination possibilities. 2) An ultrasound scan at the gestational age of 11-14 weeks in order to measure nuchal translucency and an early malformation scan. 3) An ultrasound scan for malformations at the gestational age of 18-20 weeks. 4) An ultrasound scan especially in order to detect foetal heart malformations at the gestational age of 20-24 weeks.

  9. Singing in congenital amusia.

    PubMed

    Dalla Bella, Simone; Giguère, Jean-François; Peretz, Isabelle

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action.

  10. [Penile congenital abnormalities].

    PubMed

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  11. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

    Recent advances in and controversies concerning the management of children with congenital valvular aortic stenosis are discussed. In neonates with critical aortic stenosis, improved survival has recently been reported after surgical open valvotomy and balloon valvuloplasty, although it is difficult at this point to compare the results of the two procedures and determine their differential indications. Good results have also been achieved after extended aortic valvuloplasty for recurrent aortic stenosis and/or insufficiency, but the length of follow-up in these patients is still short. The technique first reported in 1991 for bilateral enlargement fo a small annulus permits the insertion of an aortic valve 3-4 sizes larger than the native annulus. It entails no risk of distorting the mitral valve, damaging the conduction system or important branches of the coronary arteries, or resulting in left ventricular dysfunction. The Ross procedure is now widely applied in the West, with reports of early mortality rates of less than 5% and event-free survival rates of 80-90% during follow-up of 4-8 years. Longer follow-up and continued careful evaluation are required to resolve the issue of possible dilatation and subsequent neoaortic valve dysfunction and pulmonary stenosis due to allograft degeneration after pulmonary autograft root replacement in children.

  12. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

    The case records of 21 dogs with congenital portosystemic encephalopathy are reviewed. The disorder was most common in Australian cattledogs (blue heelers; 8 cases), Old English sheepdogs (3 cases) and Maltese terriers (3 cases). Extra-hepatic shunts occurred in small breeds, with the exception of 1 cattledog, while intra-hepatic shunts occurred in the medium to large breeds. The most common clinical pathology abnormalities were abnormal ammonia tolerance, mild to moderate increases in plasma alanine aminotransferase or alkaline phosphatase concentrations, decreased total serum protein concentrations, increased fasting ammonia concentrations and ammonium biurate crystalluria. Radiological examination revealed that all the dogs had a small liver. The kidneys were enlarged in 5 of 10 dogs in which kidney size could be estimated. Surgical ligation of an extra-hepatic shunt was successful in 2 of 4 dogs in which it was attempted. Medical management resulted in alleviation of clinical signs in 5 of 8 dogs. The period of successful treatment ranged from a few months to over a year.

  13. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

    Congenital insensitivity to pain (CIP) is a rare syndrome with various clinical expressions, characterized by a dramatic impairment of pain perception since birth. In the 1980s, progress in nerve histopathology allowed to demonstrate that CIP was almost always a manifestation of hereditary sensory and autonomic neuropathies (HSAN) involving the small-calibre (A-delta and C) nerve fibres which normally transmit nociceptive inputs along sensory nerves. Identification of the genetic basis of several clinical subtypes has led to a better understanding of the mechanisms involved, emphasizing in particular the crucial role of nerve growth factor (NGF) in the development and survival of nociceptors. Recently, mutations of the gene coding for the sodium channel Nav1.7--a voltage-dependent sodium channel expressed preferentially on peripheral nociceptors and sympathetic ganglia--have been found to be the cause of CIP in patients showing a normal nerve biopsy. This radical impairment of nociception mirrors the hereditary pain syndromes associated with "gain of function" mutations of the same ion channel, such as familial erythromelalgia and paroxysmal extreme pain disorder. Future research with CIP patients may identify other proteins specifically involved in nociception, which might represent potential targets for chronic pain treatment. Moreover, this rare clinical syndrome offers the opportunity to address interesting neuropsychological issues, such as the role of pain experience in the construction of body image and in the empathic representation of others' pain.

  14. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

    Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder. PMID:25654062

  15. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

    Prothrombin deficiency is among the rarest inherited coagulation disorders, with a prevalence of approximately 1:2,000,000. Two main phenotypes can be distinguished: (1) hypoprothrombinemia (type I deficiency), characterized by concomitantly low levels of activity and antigen; and (2) dysprothrombinemia (type II deficiency), characterized by the normal or near-normal synthesis of a dysfunctional protein. In some cases, hypoprothrombinemia associated with dysprothrombinemia was also described in compound heterozygous defects. No living patient with undetectable plasma prothrombin has been reported to date. Prothrombin is encoded by a gene of approximately 21 kb located on chromosome 11 and containing 14 exons. Forty different mutations have been identified and characterized in prothrombin deficiency. Many of them surround the catalytic site, whereas another "hot spot" is localized in the recognition domain called anion binding exosite I, also called fibrinogen recognition site. Recently, mutations were identified also in the Na (+)-binding loop and in the light A-chain of thrombin. Most hypoprothrombinemia-associated mutations are missense, but there are also nonsense mutations leading to stop codons and one single nucleotide deletion. Finally, the main aspects of clinical manifestations and therapy of congenital prothrombin deficiency are presented and discussed.

  16. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  17. Late diagnosis of congenital toxoplasmosis based on serological follow-up: A case report.

    PubMed

    Dard, Céline; Chemla, Cathy; Fricker-Hidalgo, Hélène; Brenier-Pinchart, Marie-Pierre; Baret, Marie; Mzabi, Alexandre; Villena, Isabelle; Pelloux, Hervé

    2017-04-01

    Toxoplasma gondii is a protozoan parasite infecting up to one third of the world's population. T. gondii infection is usually benign in immunocompetent patients but can be life-threatening when congenitally transmitted. Congenital toxoplasmosis presentation ranges from severe central nervous system and ocular features, to a well appearing newborn with onset of complications late in childhood. The diagnosis of subclinical form remains important since early treatment reduces later complications such as chorioretinitis. We report an atypical case of congenital toxoplasmosis with a delayed diagnosis, based on Toxoplasma-specific serological follow-up. The infant was born to a mother who became infected during pregnancy, thus inducing infant biological and clinical follow-up. Neither biological nor clinical arguments favored a diagnosis of congenital toxoplasmosis until ten months of life. Congenital toxoplasmosis was then suspected because of an unusual increase of specific IgG levels. Diagnosis was confirmed by detection of newly synthesized newborn Ig isotypes using complementary comparative mother-to-child immunological profile techniques and specific treatment therefore administered. This report highlights the importance to follow up newborns at risk of congenital toxoplasmosis with specific and newborn-appropriate techniques until Toxoplasma-IgG titers are completely negative. This allows not only the exclusion of congenital toxoplasmosis when serology becomes negative, but also the diagnosis and treatment of congenital toxoplasmosis when infection is detected later in development. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Stationary Anonymous Sequential Games with Undiscounted Rewards.

    PubMed

    Więcek, Piotr; Altman, Eitan

    Stationary anonymous sequential games with undiscounted rewards are a special class of games that combine features from both population games (infinitely many players) with stochastic games. We extend the theory for these games to the cases of total expected reward as well as to the expected average reward. We show that in the anonymous sequential game equilibria correspond to the limits of those of related finite population games as the number of players grows to infinity. We provide examples to illustrate our results.

  19. Solar radiation on Mars: Stationary photovoltaic array

    NASA Technical Reports Server (NTRS)

    Appelbaum, J.; Sherman, I.; Landis, G. A.

    1993-01-01

    Solar energy is likely to be an important power source for surface-based operation on Mars. Photovoltaic cells offer many advantages. In this article we have presented analytical expressions and solar radiation data for stationary flat surfaces (horizontal and inclined) as a function of latitude, season and atmospheric dust load (optical depth). The diffuse component of the solar radiation on Mars can be significant, thus greatly affecting the optimal inclination angle of the photovoltaic surface.

  20. Generalized stationary phase approximations for mountain waves

    NASA Astrophysics Data System (ADS)

    Knight, H.; Broutman, D.; Eckermann, S. D.

    2016-04-01

    Large altitude asymptotic approximations are derived for vertical displacements due to mountain waves generated by hydrostatic wind flow over arbitrary topography. This leads to new asymptotic analytic expressions for wave-induced vertical displacement for mountains with an elliptical Gaussian shape and with the major axis oriented at any angle relative to the background wind. The motivation is to understand local maxima in vertical displacement amplitude at a given height for elliptical mountains aligned at oblique angles to the wind direction, as identified in Eckermann et al. ["Effects of horizontal geometrical spreading on the parameterization of orographic gravity-wave drag. Part 1: Numerical transform solutions," J. Atmos. Sci. 72, 2330-2347 (2015)]. The standard stationary phase method reproduces one type of local amplitude maximum that migrates downwind with increasing altitude. Another type of local amplitude maximum stays close to the vertical axis over the center of the mountain, and a new generalized stationary phase method is developed to describe this other type of local amplitude maximum and the horizontal variation of wave-induced vertical displacement near the vertical axis of the mountain in the large altitude limit. The new generalized stationary phase method describes the asymptotic behavior of integrals where the asymptotic parameter is raised to two different powers (1/2 and 1) rather than just one power as in the standard stationary phase method. The vertical displacement formulas are initially derived assuming a uniform background wind but are extended to accommodate both vertical shear with a fixed wind direction and vertical variations in the buoyancy frequency.

  1. Reduction of Stationary Clutter in Radar,

    DTIC Science & Technology

    1980-10-30

    desired object. In radar, such interference is called passive interference. Since this interrerence is derived from stationary objects or rrom objects...conjunction with IAGC) is the so- called detector balance bias 2 [2.1;2.2]. Also, detectors with logarithmic characterisitics are used. Application of...considerable area in space. Thus, applying the so- called discriminator of pulse length, which lets through only pulses of length similar to that of the

  2. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Stationary grinding machines; protective... OF UNDERGROUND COAL MINES Safeguards for Mechanical Equipment § 77.401 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped with...

  3. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Stationary grinding machines; protective devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than...

  4. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Stationary x-ray system. 892.1680 Section 892.1680...) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system. (a) Identification. A stationary x-ray system is a permanently installed diagnostic system intended to generate and...

  5. 30 CFR 56.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Anchoring stationary sizing devices. 56.9311 Section 56.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 56.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  6. 30 CFR 56.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Anchoring stationary sizing devices. 56.9311 Section 56.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 56.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  7. 30 CFR 57.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Anchoring stationary sizing devices. 57.9311 Section 57.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 57.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  8. 30 CFR 57.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Anchoring stationary sizing devices. 57.9311 Section 57.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 57.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  9. 30 CFR 56.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Anchoring stationary sizing devices. 56.9311 Section 56.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 56.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  10. 30 CFR 57.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Anchoring stationary sizing devices. 57.9311 Section 57.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 57.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  11. 30 CFR 57.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Anchoring stationary sizing devices. 57.9311 Section 57.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 57.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  12. 30 CFR 57.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Anchoring stationary sizing devices. 57.9311 Section 57.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 57.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  13. 30 CFR 56.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Anchoring stationary sizing devices. 56.9311 Section 56.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 56.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  14. 30 CFR 56.9311 - Anchoring stationary sizing devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Anchoring stationary sizing devices. 56.9311 Section 56.9311 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF LABOR METAL AND... Dumping Sites § 56.9311 Anchoring stationary sizing devices. Grizzlies and other stationary sizing devices...

  15. 30 CFR 57.4561 - Stationary diesel equipment underground.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Stationary diesel equipment underground. 57... Fire Prevention and Control Installation/construction/maintenance § 57.4561 Stationary diesel equipment underground. Stationary diesel equipment underground shall be— (a) Supported on a noncombustible base; and (b...

  16. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Stationary grinding machines. 56.14115 Section... Equipment Safety Devices and Maintenance Requirements § 56.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral hoods capable...

  17. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Stationary grinding machines. 57.14115 Section... and Equipment Safety Devices and Maintenance Requirements § 57.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral...

  18. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Stationary grinding machines; protective devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other...

  19. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Stationary grinding machines. 57.14115 Section... and Equipment Safety Devices and Maintenance Requirements § 57.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral...

  20. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Stationary grinding machines; protective devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other...

  1. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 30 Mineral Resources 1 2010-07-01 2010-07-01 false Stationary grinding machines. 56.14115 Section... Equipment Safety Devices and Maintenance Requirements § 56.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral hoods capable...

  2. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Stationary grinding machines; protective... OF UNDERGROUND COAL MINES Safeguards for Mechanical Equipment § 77.401 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped...

  3. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Stationary grinding machines; protective devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other...

  4. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Stationary grinding machines. 57.14115 Section... and Equipment Safety Devices and Maintenance Requirements § 57.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral...

  5. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Stationary grinding machines. 56.14115 Section... Equipment Safety Devices and Maintenance Requirements § 56.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral hoods capable...

  6. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Stationary grinding machines. 56.14115 Section... Equipment Safety Devices and Maintenance Requirements § 56.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral hoods capable...

  7. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Stationary grinding machines. 57.14115 Section... and Equipment Safety Devices and Maintenance Requirements § 57.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral...

  8. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 30 Mineral Resources 1 2012-07-01 2012-07-01 false Stationary grinding machines. 57.14115 Section... and Equipment Safety Devices and Maintenance Requirements § 57.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral...

  9. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Stationary grinding machines. 56.14115 Section... Equipment Safety Devices and Maintenance Requirements § 56.14115 Stationary grinding machines. Stationary grinding machines, other than special bit grinders, shall be equipped with— (a) Peripheral hoods capable...

  10. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 false Stationary grinding machines; protective... OF UNDERGROUND COAL MINES Safeguards for Mechanical Equipment § 77.401 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped...

  11. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 30 Mineral Resources 1 2014-07-01 2014-07-01 false Stationary grinding machines; protective... OF UNDERGROUND COAL MINES Safeguards for Mechanical Equipment § 77.401 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped...

  12. Labour time required for piglet castration with isoflurane-anaesthesia using shared and stationary inhaler devices.

    PubMed

    Weber, Sabrina; Das, Gürbüz; Waldmann, Karl-Heinz; Gauly, Matthias

    2014-01-01

    Isoflurane-anaesthesia combined with an analgesic represents a welfare-friendly method of pain mitigation for castration of piglets. However, it requires an inhaler device, which is uneconomic for small farms. Sharing a device among farms may be an economical option if the shared use does not increase labour time and the resulting costs. This study aimed to investigate the amount and components of labour time required for piglet castration with isoflurane anaesthesia performed with stationary and shared devices. Piglets (N = 1579) were anaesthetised with isoflurane (using either stationary or shared devices) and castrated.The stationary devices were used in a group (n = 5) of larger farms (84 sows/farm on an average), whereas smaller farms (n = 7; 32 sows/farm on an average) shared one device. Each farm was visited four times and labour time for each process-step was recorded. The complete process included machine set-up, anaesthesia and castration by a practitioner, and preparation, collection and transport of piglets by a farmer. Labour time of the complete process was increased (P = 0.012) on farms sharing a device (266 s/piglet) compared to farms using stationary devices (177 s/ piglet), due to increased time for preparation (P = 0.055), castration (P = 0.026) and packing (P = 0.010) when sharing a device. However, components of the time budget of farms using stationary or shared devices did not differ significantly (P > 0.05). Cost arising from time spent by farmers did not differ considerably between the use of stationary (0.28 Euro per piglet) and shared (0.26 Euro) devices. It is concluded that costs arising from the increased labour time due to sharing a device can be considered marginal, since the high expenses originating from purchasing an inhaler device are shared among several farms.

  13. Congenital parasitic infections: a review.

    PubMed

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  14. Prenatal education for congenital toxoplasmosis.

    PubMed

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2009-01-21

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (November 2007), CENTRAL (The Cochrane Library 2007, Issue 3), MEDLINE (1966 to November 2007), EMBASE (1980 to November 2007), CINAHL (1982 to November 2007), LILACS (1982 to November 2007) IMEMR (1984 to November 2007), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials (RCT) of all types of prenatal education on toxoplasmosis infection during pregnancy. Three authors independently assessed study quality and extracted data. One cluster-randomized controlled trial (432 women) met the inclusion criteria. However, the overall methodological quality was poor. The authors did not report measure of association but only provided P values (P less than 0.05) for all outcomes. The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. There are no randomized trials on the effect of prenatal education on congenital toxoplasmosis rate, or toxoplasmosis seroconversion rate during pregnancy, but three observational studies consistently suggest that prenatal education might have a positive impact on these outcomes. Even though primary prevention of congenital toxoplasmosis is considered a desirable intervention, given the lack of related risks compared to secondary and tertiary prevention, its effectiveness has not been adequately evaluated. There is very little evidence from RCTs that prenatal education is effective in reducing congenital toxoplasmosis even though evidence from observational studies suggests it is. Given the lack of good evidence supporting

  15. Partially sparse imaging of stationary indoor scenes

    NASA Astrophysics Data System (ADS)

    Ahmad, Fauzia; Amin, Moeness G.; Dogaru, Traian

    2014-12-01

    In this paper, we exploit the notion of partial sparsity for scene reconstruction associated with through-the-wall radar imaging of stationary targets under reduced data volume. Partial sparsity implies that the scene being imaged consists of a sparse part and a dense part, with the support of the latter assumed to be known. For the problem at hand, sparsity is represented by a few stationary indoor targets, whereas the high scene density is defined by exterior and interior walls. Prior knowledge of wall positions and extent may be available either through building blueprints or from prior surveillance operations. The contributions of the exterior and interior walls are removed from the data through the use of projection matrices, which are determined from wall- and corner-specific dictionaries. The projected data, with enhanced sparsity, is then processed using l 1 norm reconstruction techniques. Numerical electromagnetic data is used to demonstrate the effectiveness of the proposed approach for imaging stationary indoor scenes using a reduced set of measurements.

  16. Stationary black holes: large D analysis

    NASA Astrophysics Data System (ADS)

    Suzuki, Ryotaku; Tanabe, Kentaro

    2015-09-01

    We consider the effective theory of large D stationary black holes. By solving the Einstein equations with a cosmological constant using the 1 /D expansion in near zone of the black hole we obtain the effective equation for the stationary black hole. The effective equation describes the Myers-Perry black hole, bumpy black holes and, possibly, the black ring solution as its solutions. In this effective theory the black hole is represented as an embedded membrane in the background, e.g., Minkowski or Anti-de Sitter spacetime and its mean curvature is given by the surface gravity redshifted by the background gravitational field and the local Lorentz boost. The local Lorentz boost property of the effective equation is observed also in the metric itself. In fact we show that the leading order metric of the Einstein equation in the 1 /D expansion is generically regarded as a Lorentz boosted Schwarzschild black hole. We apply this Lorentz boost property of the stationary black hole solution to solve perturbation equations. As a result we obtain an analytic formula for quasinormal modes of the singly rotating Myers-Perry black hole in the 1 /D expansion.

  17. Backset-stationary and during car driving.

    PubMed

    Jonsson, Bertil; Stenlund, Hans; Björnstig, Ulf

    2008-12-01

    The aim of the study was to measure and analyze backset, defined as the horizontal distance between the back of the occupant's head and a point located on the ventral/top aspect of the sewn rim of the head restraint, with the car stationary and during driving, in the driver's position in a modern car. A population of 65 subjects, 35 males and 30 females, was studied in a Volvo V70 car, model year 2007. The subjects were studied in the driver's position, in a self-selected posture. Stationary backset was measured with the technique described by Jonsson et al. (2007) and backset during driving with video analysis. Descriptive data were calculated, and variability and correlation analyses were performed. A t-test was used to test differences of means. Significance level was set to 0.05. In comparison to stationary backset, mean backset during driving was 43 mm greater in males and 41 mm greater in females. Driving backset was 44 mm larger in males than in females. Driving backset was moderately correlated (0.37-0.43) to stature, seated height, and seat back angle in males and moderately correlated (0.44-0.52) to hip width, waist circumference, and weight in females. The overall intraclass correlation coefficient for backset during driving was 0.81 (CI: 0.75-0.86). These results may be of use in designing future updates of test protocols/routines for geometric backset, such as RCAR and RCAR-IIWPG.

  18. Nucleoid restructuring in stationary-state bacteria.

    PubMed

    Frenkiel-Krispin, Daphna; Ben-Avraham, Irit; Englander, Joseph; Shimoni, Eyal; Wolf, Sharon G; Minsky, Abraham

    2004-01-01

    The textbook view of the bacterial cytoplasm as an unstructured environment has been overturned recently by studies that highlighted the extent to which non-random organization and coherent motion of intracellular components are central for bacterial life-sustaining activities. Because such a dynamic order critically depends on continuous consumption of energy, it cannot be perpetuated in starved, and hence energy-depleted, stationary-state bacteria. Here, we show that, at the onset of the stationary state, bacterial chromatin undergoes a massive reorganization into ordered toroidal structures through a process that is dictated by the intrinsic properties of DNA and by the ubiquitous starvation-induced DNA-binding protein Dps. As starvation proceeds, the toroidal morphology acts as a structural template that promotes the formation of DNA-Dps crystalline assemblies through epitaxial growth. Within the resulting condensed assemblies, DNA is effectively protected by means of structural sequestration. We thus conclude that the transition from bacterial active growth to stationary phase entails a co-ordinated process, in which the energy-dependent dynamic order of the chromatin is sequentially substituted with an equilibrium crystalline order.

  19. Automated stationary source dynamic spiking. Final report

    SciTech Connect

    McGaughey, J.F.

    1998-06-17

    Methods of collection and analysis for monitoring stationary sources must demonstrate conclusively that the methodology is functioning properly and according to specified EPA criteria. The appropriate procedure for demonstrating proper operation of the method is to perform dynamic spiking of the analyte in the field, at the specified source being monitored. Gaseous dynamic spiking, using certified gas mixtures as the spiking medium has been used in previous EPA stationary source sampling methods and documented in EPA reports. Liquid dynamic spiking, using mixtures of liquid and solid analytes in an organic or aqueous solvent has also been used in previous EPA field tests. To remove, as much as possible, the potential for human error, the EPA has developed a prototype liquid dynamic spiking system employing computerized operation of the analyte spiking procedure with video monitoring and control of the liquid droplet frequency and size. This report describes development of the system applicability to stationary source sampling, the individual parts incorporated into the system, and the standard operating procedures.

  20. Exact solutions for discs around stationary black holes

    NASA Astrophysics Data System (ADS)

    Požár, N.; Semerák, O.; Šácha, J.; Žáček, M.; Zellerin, T.

    2007-04-01

    Linking together technology, observations, Einstein's theory and pure mathematics, black holes surrounded by disc-like structures prosper in some of the most interesting and violent sources in the universe - in galactic nuclei and X-ray binaries. However, a consistent exact description of the gravitational field of these systems is still lacking. In static axisymmetric case, the task reduces to Laplace equation and the fields of multiple sources follow by mere superposition, but in a rotating case, so relevant under the above astrophysical conditions, non-linearity of the field equations resists full grasp. Recently, mathematical methods developed in the theory of completely integrable systems seem to verge on explicit and satisfactory solutions to the Ernst version of the stationary axisymmetric Einstein's equations. Today referred to as methods of algebraic geometry, they seek them in terms of theta-functions on special manifolds which are - symptomatically - connected with the names of Riemann and Hilbert.

  1. Congenital scoliosis: etiology and associations.

    PubMed

    Hensinger, Robert N

    2009-08-01

    Literature review. To provide a current overview of congenital scoliosis and associated conditions. The etiology of congenital scoliosis is unknown. A variety of factors have been implicated in the development of vertebral abnormalities. These factors provide clues to the origin of congenital scoliosis. A search of PubMed, using the keywords congenital scoliosis, etiology, and genetics was performed. Environmental factors, genetics, vitamin deficiency, chemicals, and drugs, singly or in combination, have all been implicated in the development of vertebral abnormalities. Whatever the cause, the physiologic injury occurs early in the embryologic period, well before the development of cartilage and bone. The resulting defects can lead to full or partial fusion or lack of development of the vertebrae, which, in turn, can cause a curvature that, may be progressive during the growth of the child. The origin of congenital scoliosis may be environmental, genetic, or a combination of factors. Research on these various factors continues. Early identification and management of concomitant defects can improve the patient's quality of life.

  2. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

    PubMed

    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully.

  3. Retrospective review of tracheoplasty for congenital tracheal stenosis.

    PubMed

    Wijeweera, O; Ng, S B A

    2011-10-01

    Congenital tracheal stenosis is a rare but life-threatening obstructive airway disease. It usually presents in early infancy and requires surgical intervention. This study is a review of our experience in the management of congenital tracheal stenosis in children at KK Women's and Children's Hospital, Singapore. All children who had undergone tracheoplasty for congenital tracheal stenosis between January 1999 and December 2008 were included. The patients' medical records were retrieved from our database, and the demographic data, comorbidities, clinical presentation and management, surgery performed, postoperative complications, final outcomes and follow-up were reviewed. A total of 11 children aged 12 days to six years underwent surgery for congenital long-segment tracheal stenosis, of which ten (90.9 percent) had associated cardiac and vascular anomalies and nine (81.8 percent) had left pulmonary artery sling predominance. Five (45.4 percent) children had associated bronchopulmonary abnormalities. All the patients underwent slide tracheoplasty with concomitant repair of congenital heart defects. Overall mortality was 45.4 percent (n is 5), including one late mortality due to an unrelated cause. With the exception of one, the follow-up of all patients was complete at this writing. One patient had mild residual tracheal stenosis and another had bilateral bronchomalacia. This is the largest case series of congenital long-segment tracheal stenosis reported in Southeast Asia to date. Slide tracheoplasty with concomitant repair of cardiac lesions is currently the preferred management for long-segment stenosis. Management of such patients remains a challenge for clinicians and the patients' families, and requires a multidisciplinary approach.

  4. Anesthetic management in a case of congenital sternal cleft diagnosed incidentally on the operating table

    PubMed Central

    Gupta, Priyamvada; Kumar, Alok; Jethava, D. D.; Jethava, Durga

    2014-01-01

    Congenital absence of sternum, also known as sternal cleft, is a rare anomaly. It is due to impaired organogenesis leading to nonfusion of sternal bars. It may be of two types- complete or incomplete. It may be associated with other congenital malformations viz., cardiac, anorectal etc., or may be a part of Cantrell's pentalogy. Besides cosmetic concerns, mediastinal structures are at increased risk to damage in case of trauma to the anterior chest wall. Due to restricted mediastinal space, there may be restrictive pulmonary dysfunctions and unstable hemodynamics. It usually presents in the neonatal period or early infancy, rarely in adult age. The defect should be surgically closed as early as possible. If cardiac arrest occurs due to any reason, the only option is open cardiac massage. We report a case of complete congenital sternal cleft accidentally diagnosed on the operation table, while preparing the patient for diagnostic laparotomy. The patient was retrospectively assessed for the presence of other congenital malformations. PMID:25886344

  5. First-excursion probability in non-stationary random vibration.

    NASA Technical Reports Server (NTRS)

    Yang, J.-N.

    1973-01-01

    The first-excursion probability of a non-stationary Gaussian process with zero mean has been studied. Within the framework of the point process approach, a variety of analytical approximations applicable to stationary random processes is extended herein to non-stationary random processes. The extension is possible owing to a recent definition of non-stationary envelope processes proposed by the author. With the aid of numerical examples, merits of each approximation are examined by comparing with the results of simulation. It is found that under non-stationary excitations with short duration, the Markov approximation is the best among all the approximations discussed in this paper.

  6. Magnetic resonance imaging of congenital heart disease

    SciTech Connect

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity.

  7. Care and Treatment for Congenital Heart Defects

    MedlinePlus

    ... Physical Activity Recommendations for Heart Health • Tools & Resources Web Booklets on Congenital Heart Defects These online publications ... to you or your child’s defect and concerns. Web Booklet: Adults With Congenital Heart Defects Web Booklet: ...

  8. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Sep 12, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  9. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... into smaller parts to be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and the blood vessels ... that cause isolated congenital hepatic fibrosis are ... include malformation of embryonic structures called ductal plates. Each ductal ...

  10. How Are Congenital Heart Defects Treated?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  11. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  12. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

    ... Hangout on the first large-scale gene sequencing analysis of congenital heart disease 05/28/2013 This ... journal Nature, about the first large-scale sequencing analysis of congenital heart disease. This NHLBI-supported international, ...

  13. Evaluation of Adults With Congenital Heart Disease.

    PubMed

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD.

  14. Auditory Spatial Recalibration in Congenital Blind Individuals

    PubMed Central

    Finocchietti, Sara; Cappagli, Giulia; Gori, Monica

    2017-01-01

    Blind individuals show impairments for auditory spatial skills that require complex spatial representation of the environment. We suggest that this is partially due to the egocentric frame of reference used by blind individuals. Here we investigate the possibility of reducing the mentioned auditory spatial impairments with an audio-motor training. Our hypothesis is that the association between a motor command and the corresponding movement's sensory feedback can provide an allocentric frame of reference and consequently help blind individuals in understanding complex spatial relationships. Subjects were required to localize the end point of a moving sound before and after either 2-min of audio-motor training or a complete rest. During the training, subjects were asked to move their hand, and consequently the sound source, to freely explore the space around the setup and the body. Both congenital blind (N = 20) and blindfolded healthy controls (N = 28) participated in the study. Results suggest that the audio-motor training was effective in improving space perception of blind individuals. The improvement was not observed in those subjects that did not perform the training. This study demonstrates that it is possible to recalibrate the auditory spatial representation in congenital blind individuals with a short audio-motor training and provides new insights for rehabilitation protocols in blind people. PMID:28261053

  15. Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

    PubMed

    Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

    2016-12-01

    brain). Phylogenetic analyses showed an intrahost virus variation with some polymorphisms in envelope genes associated with different tissues. Combined findings from clinical, laboratory, imaging, and pathological examinations provided a more complete picture of the severe damage and developmental abnormalities caused by ZIKV infection than has been previously reported. The term congenital Zika syndrome is preferable to refer to these cases, as microcephaly is just one of the clinical signs of this congenital malformation disorder.

  16. Ground roll attenuation using non-stationary matching filtering

    NASA Astrophysics Data System (ADS)

    Jiao, Shebao; Chen, Yangkang; Bai, Min; Yang, Wencheng; Wang, Erying; Gan, Shuwei

    2015-12-01

    Conventional approaches based on adaptive subtraction for ground roll attenuation first predict an initial model for ground rolls and then adaptively subtract it from the original data using a stationary matching filter (MF). Because of the non-stationary property of seismic data and ground rolls, the application of a traditional stationary MF is not physically plausible. Thus, in the case of highly non-stationary seismic reflections and ground rolls, a stationary MF cannot obtain satisfactory results. In this paper, we apply a non-stationary matching filter (NMF) to adaptively subtract the ground rolls. The NMF can be obtained by solving a highly under-determined inversion problem using non-stationary autoregression. We apply the proposed approach to one synthetic example and two field data examples, and demonstrate a much improved performance compared with the traditional MF approach.

  17. Stationary strings in the spacetime of rotating black holes in five-dimensional minimal gauged supergravity

    SciTech Connect

    Ahmedov, Haji; Aliev, Alikram N.

    2008-09-15

    We examine the separability properties of the equation of motion for a stationary string near a rotating charged black hole with two independent angular momenta in five-dimensional minimal gauged supergravity. It is known that the separability problem for the stationary string in a general stationary spacetime is reduced to that for the usual Hamilton-Jacobi equation for geodesics of its quotient space with one dimension fewer. Using this fact, we show that the 'effective metric' of the quotient space does not allow the complete separability for the Hamilton-Jacobi equation, albeit such a separability occurs in the original spacetime of the black hole. We also show that only for two special cases of interest the Hamilton-Jacobi equation admits the complete separation of variables and therefore the integrability for the stationary string motion in the original background, namely, when the black hole has zero electric charge or it has an arbitrary electric charge but two equal angular momenta. We give the explicit expressions for the Killing tensors corresponding to these cases. However, for the general black hole spacetime the effective metric of the quotient space admits a conformal Killing tensor. We construct the explicit expression for this tensor.

  18. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

    Animal studies suggest that early visual deprivation can cause permanent functional blindness. However, few human data on this issue exist. Given enough time for recovery, can a person gain visual skills after several years of congenital blindness? In India, we recently had an unusual opportunity to work with an individual whose case history sheds light on this question. S.R.D. was born blind, and remained so until age 12. She then underwent surgery for the removal of dense congenital cataracts. We evaluated her performance on an extensive battery of visual tasks 20 years after surgery. We found that although S.R.D.'s acuity is compromised, she is proficient on mid- and high-level visual tasks. These results suggest that the human brain retains an impressive capacity for visual learning well into late childhood. They have implications for current conceptions of cortical plasticity and provide an argument for treating congenital blindness even in older children.

  19. [The congenital afibrinogenemia: case report].

    PubMed

    Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management.

  20. Congenital Anomaly of the Atlas Misdiagnosed as Posterior Arch Fracture of the Atlas and Atlantoaxial Subluxation

    PubMed Central

    Park, Yung; Kim, Seong Min; Lee, Yun Tae; Yoo, Ju Hyung; Oh, Hyun Chul; Sung, Seung Yong; Yoon, Han Kook; Chang, Jee-Hoon; Jung, Jeung-Yeul

    2014-01-01

    Partial or complete absence of the posterior arch of the atlas is a well-documented anomaly but a relatively rare condition. This condition is usually asymptomatic so most are diagnosed incidentally. There have been a few documented cases of congenital defects of the posterior arch of the atlas combined with atlantoaxial subluxation. We report a very rare case of congenital anomaly of the atlas combined with atlantoaxial subluxation, that can be misdiagnosed as posterior arch fracture. PMID:24605195

  1. [Congenital Defect of the Left Pericardium with Spontaneous Pneumothorax;Report of a Case].

    PubMed

    Murasawa, Masaki; Yoshizawa, Masatoshi; Ishida, Hisao; Kuwabara, Masayoshi

    2016-08-01

    Congenital cardiac membrane deficiency is a relatively rare condition. Here, we report a case of congenital cardiac membrane deficiency that manifested as left spontaneous pneumothorax. A 72-year-old man was hospitalized for recurrence of the spontaneous pneumothorax. Computed tomography findings led us to suspect pericardial deficits, and the perioperative findings during thoracoscopic surgery for the pneumothorax confirmed complete absence of the left pericardium. We resected a lung cyst but did not treat the pericardial deficit. The patient's postoperative course was uneventful.

  2. The Influence of Context on Amodal Completion in 5- and 7-Month-Old Infants

    ERIC Educational Resources Information Center

    Kavsek, Michael

    2004-01-01

    Several investigations have shown that young infants perceive the unity of a center-occluded object when the visible ends of the object undergo common motion but not when the object remains stationary. This study is an extension of earlier investigations on object unity in that it assesses amodal completion of stationary circles in which one half…

  3. Leber's congenital amaurosis as conceived by Leber.

    PubMed

    Pinckers, A J

    1979-01-01

    Not being satisfied with the present-day diagnosis of Leber's congenital amaurosis, the original papers written by Leber were studied. It gradually became clear that what Leber had in mind with congenital amaurosis is roughly the same as what we know as neuronal ceroid lipofuscinosis. The present diagnosis of Leber's congenital amaurosis is not a clinical syndrome but an aspecific symptom complex.

  4. Lengthening of congenital forearm stumps.

    PubMed

    Jasiewicz, Barbara; Tesiorowski, Maciej; Kacki, Wojciech; Kasprzyk, Marcin; Zarzycki, Daniel

    2006-05-01

    The Ilizarov device and distraction osteogenesis method became very useful in correction and elongation of forearm defects. Two cases of forearm elongation with congenital transverse defect are described. The construction of the device is provided. During follow-up examination, 2 and 7 years after the treatment, good clinical results were achieved in both patients with the use of upper limb prosthesis employing the patient's own elbow joint. Presented application of the Ilizarov method can significantly improve possibilities for the use of prosthesis in patients with congenital upper limb defects and result in better cosmetic and functional outcome.

  5. Leber's congenital amaurosis: an update.

    PubMed

    Fazzi, Elisa; Signorini, Sabrina Giovanna; Scelsa, Barbara; Bova, Stefania Maria; Lanzi, Giovanni

    2003-01-01

    Leber's congenital amaurosis (LCA) is a clinically and genetically heterogeneous disorder characterized by severe loss of vision at birth. It accounts for 10-18% of cases of congenital blindness. Some patients exhibit only blindness of retinal origin whereas others show evidence of a multi-systemic involvement. We review the literature relating to this severe disorder, highlighting unresolved questions, in particular the nature of the association of LCA with mental retardation and with systemic findings and syndromic pictures. In recent years, genetic advances in the diagnosis of LCA have opened up new horizons, also from a therapeutic point of view. A better understanding of this pathology would be valuable for paediatric neurologists.

  6. [Congenital afibrinogenemia: about a case].

    PubMed

    Assani, Karim; Karboubi, Lamya; Dakhama, Badr Sououd Benjelloun

    2016-01-01

    Afibrinogenemia is a rare dyscrasia characterized by a congenital fibrinogen deficiency It is transmitted in an autosomal recessive manner. Hemorrhagic manifestations are variable and can be life-threatening. A little more than 250 cases have been published up till now. We here report a new case of congenital afibrinogenemia in a 3 1/2-year old child hospitalized for medium abundance hematemesis. This case study aims to highlight numerous aspects of this condition from a clinical, biological, genetic and therapeutic points of view.

  7. Stationary equilibrium singularity distributions in the plane

    NASA Astrophysics Data System (ADS)

    Newton, P. K.; Ostrovskyi, V.

    2012-02-01

    We characterize all stationary equilibrium point singularity distributions in the plane of logarithmic type, allowing for real, imaginary or complex singularity strengths. The dynamical system follows from the assumption that each of the N singularities moves according to the flow field generated by all the others at that point. For strength vector \\vec{\\Gamma} \\in {\\Bbb R}^N , the dynamical system is the classical point vortex system obtained from a singular discrete representation of the vorticity field from ideal, incompressible fluid flow. When \\vec{\\Gamma} \\in \\Im , it corresponds to a system of sources and sinks, whereas when \\vec{\\Gamma} \\in {\\Bbb C}^N the system consists of spiral sources and sinks discussed in Kochin et al (1964 Theoretical Hydromechanics 1 (London: Interscience)). We formulate the equilibrium problem as one in linear algebra, A \\vec{\\Gamma} = 0 , A \\in {\\Bbb C}^{N \\times N} , \\vec{\\Gamma} \\in {\\Bbb C}^N , where A is a N × N complex skew-symmetric configuration matrix which encodes the geometry of the system of interacting singularities. For an equilibrium to exist, A must have a kernel and \\vec{\\Gamma} must be an element of the nullspace of A. We prove that when N is odd, A always has a kernel, hence there is a choice of \\vec{\\Gamma} for which the system is a stationary equilibrium. When N is even, there may or may not be a non-trivial nullspace of A, depending on the relative position of the points in the plane. We provide examples of evenly and randomly distributed points on curves such as circles, figure eights, flower-petal configurations and spirals. We then show how to classify the stationary equilibria in terms of the singular spectrum of A.

  8. Universal BPS structure of stationary supergravity solutions

    NASA Astrophysics Data System (ADS)

    Bossard, Guillaume; Nicolai, Hermann; Stelle, K. S.

    2009-07-01

    We study asymptotically flat stationary solutions of four-dimensional supergravity theories via the associated fraktur G/fraktur H* pseudo-Riemannian non-linear sigma models in three spatial dimensions. The Noether charge Script C associated to fraktur G is shown to satisfy a characteristic equation that determines it as a function of the four-dimensional conserved charges. The matrix Script C is nilpotent for non-rotating extremal solutions. The nilpotency degree of Script C is directly related to the BPS degree of the corresponding solution when they are BPS. Equivalently, the charges can be described in terms of a Weyl spinor |Script Crangle of Spin*(2Script N), and then the characteristic equation becomes equivalent to a generalisation of the Cartan pure spinor constraint on |Script Crangle. The invariance of a given solution with respect to supersymmetry is determined by an algebraic `Dirac equation' on the Weyl spinor |Script Crangle. We explicitly solve this equation for all pure supergravity theories and we characterise the stratified structure of the moduli space of asymptotically Taub-NUT black holes with respect to their BPS degree. The analysis is valid for any asymptotically flat stationary solutions for which the singularities are protected by horizons. The fraktur H*-orbits of extremal solutions are identified as Lagrangian submanifolds of nilpotent orbits of fraktur G, and so the moduli space of extremal spherically symmetric black holes is identified as a Lagrangian subvariety of the variety of nilpotent elements of fraktur g. We also generalise the notion of active duality transformations to an `almost action' of the three-dimensional duality group fraktur G on asymptotically flat stationary solutions.

  9. A stationary digital breast tomosynthesis scanner

    NASA Astrophysics Data System (ADS)

    Qian, Xin; Tucker, Andrew; Gidcumb, Emily; Lu, Jianping; Zhou, Otto; Spronk, Derrek; Sprenger, Frank; Zhang, Yiheng; Kennedy, Don; Farbizio, Tom; Jing, Zhenxue

    2012-03-01

    A prototype stationary digital breast tomosynthesis (s-DBT) system has been developed by retrofitting a Hologic Selenia Dimension rotating gantry tomosynthesis scanner with a spatially distributed carbon nanotube (CNT) x-ray source array. The goal is to improve the system spatial resolution by removing the x-ray tube motion induced focal spot blurring. The CNT x-ray source array comprises 31 individually addressable x-ray beams covering 30° angular span. Each x-ray beam has a minimum focal spot size of 0.64×0.61mm (full-width-at-half-maximum), a stationary W anode operating up to 50kVp, and 1mm thick Al filter. The flux from each beam is regulated and varied using dedicated control electronics. The maximum tube current is determined by the heat load of the stationary anode and depends on the energy, pulse width and the focal spot size used. Stable operation at 28kVp, 27mA tube current, 250msec pulse width and 38mA tube current, 183msec pulse width per exposure was achieved with extended lifetime. The standard ACR phantom was imaged and analyzed to evaluate the image quality. The actual scanning speed depends on the number of views and the readout time of the x-ray detector. With the present detector, 6 second scanning time at either 15 views or 31 views can be achieved at 100mAs total imaging dose with a detector readout time of 240msec.

  10. Stationary Black Holes: Uniqueness and Beyond.

    PubMed

    Chruściel, Piotr T; Costa, João Lopes; Heusler, Markus

    2012-01-01

    The spectrum of known black-hole solutions to the stationary Einstein equations has been steadily increasing, sometimes in unexpected ways. In particular, it has turned out that not all black-hole-equilibrium configurations are characterized by their mass, angular momentum and global charges. Moreover, the high degree of symmetry displayed by vacuum and electro-vacuum black-hole spacetimes ceases to exist in self-gravitating non-linear field theories. This text aims to review some developments in the subject and to discuss them in light of the uniqueness theorem for the Einstein-Maxwell system.

  11. On D = 4 Stationary Black Holes

    NASA Astrophysics Data System (ADS)

    Andrianopoli, L.; D'Auria, R.; Gallerati, A.; Trigiante, M.

    2013-11-01

    We review some recent results concerning non-extremal and extremal stationary, asymptotically flat black hole solutions in extended D = 4 supergravities, and their properties with respect to the global symmetries of the theory. More specifically we refer to the effective three-dimensional description of these solutions and their classification within orbits with respect to the action of the global symmetry group, illustrating, for single-center solutions, the general mathematical relation between the orbits of non-extremal and extremal black holes.

  12. Numerical methods for finding stationary gravitational solutions

    NASA Astrophysics Data System (ADS)

    Dias, Óscar J. C.; Santos, Jorge E.; Way, Benson

    2016-07-01

    The wide applications of higher dimensional gravity and gauge/gravity duality have fuelled the search for new stationary solutions of the Einstein equation (possibly coupled to matter). In this topical review, we explain the mathematical foundations and give a practical guide for the numerical solution of gravitational boundary value problems. We present these methods by way of example: resolving asymptotically flat black rings, singly spinning lumpy black holes in anti-de Sitter (AdS), and the Gregory-Laflamme zero modes of small rotating black holes in AdS{}5× {S}5. We also include several tools and tricks that have been useful throughout the literature.

  13. Population inversion in a stationary recombining plasma

    SciTech Connect

    Otsuka, M.

    1980-12-01

    Population inversion, which occurs in a recombining plasma when a stationary He plasma is brought into contact with a neutral gas, is examined. With hydrogen as a contact gas, noticeable inversion between low-lying levels of H as been found. The overpopulation density is of the order of 10/sup 8/ cm/sup -3/, which is much higher then that (approx. =10/sup 5/ cm/sup -3/) obtained previously with He as a contact gas. Relations between these experimental results and the conditions for population inversion are discussed with the CR model.

  14. Localization and stationary phase approximation on supermanifolds

    NASA Astrophysics Data System (ADS)

    Zakharevich, Valentin

    2017-08-01

    Given an odd vector field Q on a supermanifold M and a Q-invariant density μ on M, under certain compactness conditions on Q, the value of the integral ∫Mμ is determined by the value of μ on any neighborhood of the vanishing locus N of Q. We present a formula for the integral in the case where N is a subsupermanifold which is appropriately non-degenerate with respect to Q. In the process, we discuss the linear algebra necessary to express our result in a coordinate independent way. We also extend the stationary phase approximation and the Morse-Bott lemma to supermanifolds.

  15. On the Angle for Stationary Random Fields.

    DTIC Science & Technology

    1985-04-01

    Soltani [15], dealing with regularity and quarter-plane moving average representation; and Miamee [10], where an extension of Szego’s theorem for...lemma. Using Lemma 3.8 above and Theorem 3.4 of Soltani [15] we arrive at the following lemma. 3.9 Lemma. Let X be a stationary field with spectral...Mandrekar [7]. (One can also see Korezlioglu and Loubaton [8], and Miamee [10]). A set of such sufficient conditions is also given by Soltani [15

  16. Deterministic ratchet from stationary light fields.

    PubMed

    Zapata, I; Albaladejo, S; Parrondo, J M R; Sáenz, J J; Sols, F

    2009-09-25

    Ratchets are dynamic systems where particle transport is induced by zero-average forces due to the interplay between nonlinearity and asymmetry. Generally, they rely on the effect of a strong external driving. We show that stationary optical lattices can be designed to generate particle flow in one direction while requiring neither noise nor driving. Such optical fields must be arranged to yield a combination of conservative (dipole) and nonconservative (radiation pressure) forces. Under strong friction all paths converge to a discrete set of limit periodic trajectories flowing in the same direction.

  17. Activity of Sulfa Drugs and Their Combinations against Stationary Phase B. burgdorferi In Vitro

    PubMed Central

    Feng, Jie; Zhang, Shuo; Shi, Wanliang; Zhang, Ying

    2017-01-01

    + cefuroxime + doxycycline used as a positive control which completely eradicated B. burgdorferi stationary phase cells. Future studies are needed to evaluate and optimize the sulfa drug combinations in vitro and also in animal models. PMID:28327498

  18. Activity of Sulfa Drugs and Their Combinations against Stationary Phase B. burgdorferi In Vitro.

    PubMed

    Feng, Jie; Zhang, Shuo; Shi, Wanliang; Zhang, Ying

    2017-03-22

    + doxycycline used as a positive control which completely eradicated B. burgdorferi stationary phase cells. Future studies are needed to evaluate and optimize the sulfa drug combinations in vitro and also in animal models.

  19. Monolayer-Protected Gold Nanoparticles as a Stationary Phase for Open Tubular Gas Chromatography

    SciTech Connect

    Gross, Gwen M.; Nelson, David A.; Grate, Jay W.; Synovec, Robert E.

    2003-09-01

    The use of a thin film of monolayer protected gold nanoparticles (MPNs) as a stationary phase for gas chromatography (GC) is reported. Dodecanethiol-protected gold nanoparticles were prepared and characterized. Deposition of a MPN film was successfully completed within a 2 m, 530 {micro}m (i.d.) deactivated silica capillary using gravity to force a plug of solution containing the MPN material through the capillary for deposition. The presence of a thin MPN film on the GC capillary inside wall was confirmed with SEM analysis with an average film thickness of 60.7 nm measured. The retention behavior of the dodecanethiol MPN stationary phase was studied using four different classes of compounds (alkanes, alcohols, aromatics and ketones) and their retention orders were compared to a commercially available column (AT-1, 100 nm phase thickness). The separation of an eight-component mixture was performed using both isothermal and temperature programming separation methods with the novel dodecanethiol MPN phase. The isothermal separation was then objectively compared to the commercial AT-1 stationary phase column using the same experimental parameters. The commercial column had an efficiency, N, of 6200 (k{prime} = 0.33) while the dodecanethiol MPN stationary phase had an efficiency, N, of 5700 (k{prime} = 0.21) for the same analyte, octane. The reduced plate height, h, for this same analyte was found to be less than 1 at the optimum linear flow velocity. Based upon the efficiencies and reduced plate height studies as a function of linear flow velocity, we conclude that the MPN stationary phase operated at nearly the optimum possible performance level. The robustness of the MPN phase is also discussed with consistent performance observed over several months. Overall, the use of monolayer protected gold nanoparticles as gas chromatographic stationary phase materials appears promising.

  20. Congenital myopathy is caused by mutation of HACD1

    PubMed Central

    Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; DeLuca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C.; Parvari, Ruti

    2013-01-01

    Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function. PMID:23933735

  1. Gibbsian Stationary Non-equilibrium States

    NASA Astrophysics Data System (ADS)

    De Carlo, Leonardo; Gabrielli, Davide

    2017-09-01

    We study the structure of stationary non-equilibrium states for interacting particle systems from a microscopic viewpoint. In particular we discuss two different discrete geometric constructions. We apply both of them to determine non reversible transition rates corresponding to a fixed invariant measure. The first one uses the equivalence of this problem with the construction of divergence free flows on the transition graph. Since divergence free flows are characterized by cyclic decompositions we can generate families of models from elementary cycles on the configuration space. The second construction is a functional discrete Hodge decomposition for translational covariant discrete vector fields. According to this, for example, the instantaneous current of any interacting particle system on a finite torus can be canonically decomposed in a gradient part, a circulation term and an harmonic component. All the three components are associated with functions on the configuration space. This decomposition is unique and constructive. The stationary condition can be interpreted as an orthogonality condition with respect to an harmonic discrete vector field and we use this decomposition to construct models having a fixed invariant measure.

  2. Microparticle column geometry in acoustic stationary fields.

    PubMed

    Hancock, Andrew; Insana, Michael F; Allen, John S

    2003-01-01

    Particles suspended in a fluid will experience forces from stationary acoustic fields. The magnitude of the force depends on the time-averaged energy density of the field and the material properties of the particles and fluid. Forces acting on known particles smaller than 20 microm were studied. Within a 500 kHz acoustic beam generated by a plane-piston circular source, observations were made of the geometry of the particle column that is formed. Varying the acoustic energy altered the column width in a manner predicted by equations for the primary acoustic radiation force from scattering of particles in the long-wavelength limit. The minimum pressures required to trap gas, solid, and liquid particles in a water medium at room temperature were also estimated to within 12%. These results highlight the ability of stationary acoustic fields from a plane-piston radiator to impose nano-Newton-scale forces onto fluid particles with properties similar to biological cells, and suggest that it is possible to accurately quantify these forces.

  3. [Genetics of congenital heart diseases].

    PubMed

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  4. Dermatoglyphic profile in congenital cataracts.

    PubMed

    Angra, S K; Rao, N P; Panda, A; Grewal, M S

    1990-01-01

    Forty-five children with congenital cataract cases were studied for patterns and compared with age sex matched controls. The patients showed marked differences in different dermatoglyphic traits. The intra uterine aetiological groups i.e. rubella, hereditary and undetected aetiology, showed variations in mainline terminations. Rubella group showed increased angle atd.

  5. Congenital Absence of the Pericardium

    PubMed Central

    Kim, Hyun-Jin; Cho, Goo-Yeong; Choi, Sang Il

    2014-01-01

    Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation. PMID:24753808

  6. [Pregnancy and congenital heart disease].

    PubMed

    Manso, Begoña; Gran, Ferrán; Pijuán, Antonia; Giralt, Gemma; Ferrer, Queralt; Betrián, Pedro; Albert, Dimpna; Rosés, Ferrán; Rivas, Nuria; Parra, Montserrat; Girona, Josep; Farrán, Inmaculada; Casaldáliga, Jaume

    2008-03-01

    Since the creation of the Adult Congenital Heart Disease Units and of the High Obstetric Risk Units, there has been increasing interest in hemodynamic and obstetric outcomes in pregnant woman with congenital heart disease. Retrospective descriptive study of 56 women with congenital heart disease aged (mean [range]) 25 (18-40) years, who experienced a total of 84 pregnancies between January 1992 and August 2006. The women were divided into three pregnancy risk groups: A, low-risk; B, moderate-risk, and C, high-risk. The incidence of complications during pregnancy was 1.6%, 15%, and 20% in groups A, B, and C, respectively; the incidence during the puerperium was 2%, 23%, and 50%, respectively; and maternal mortality was 0%, 7.6%, and 25%, respectively. Overall, 69 children were born, and the prematurity rates in the three groups were 11%, 15%, and 100%, respectively. The following risk factors were studied: pulmonary hypertension, cyanosis, arrhythmia, left ventricular outflow tract obstruction, right ventricular dilatation, systemic right ventricle, and anticoagulation therapy. The risk factor most significantly associated with maternal or fetal morbidity or mortality was found to be pulmonary hypertension. Risk stratification in pregnant women with congenital heart disease provides prognostic information that can help multidisciplinary teams to target care to achieve the best results.

  7. Stationary and non-stationary nonlinear optical spectroscopy on surface polaritons

    NASA Technical Reports Server (NTRS)

    Ponath, H. E.

    1984-01-01

    A phenomenological theory is given for non-stationary electromagnetic surface waves propagating along the boundary plane between two homogeneous isotropic media. The description of nonlinear optical effects using shortened wave equations is demonstrated for spontaneous and simulated Raman scattering processes on surface polaritons.

  8. The Role of Output Speech in Literacy Acquisition: Evidence from Congenital Anarthria.

    ERIC Educational Resources Information Center

    Cossu, Giuseppe

    2003-01-01

    Examines literary acquisition in a congenitally speechless child. Explains that in spite of a complete oral apraxia, the child developed normal intelligence and acquired complete mastery of reading and writing skills. Notes that though both his verbal memory and metaphonological skills were surprisingly preserved, he showed relative impairment in…

  9. The Role of Output Speech in Literacy Acquisition: Evidence from Congenital Anarthria.

    ERIC Educational Resources Information Center

    Cossu, Giuseppe

    2003-01-01

    Examines literary acquisition in a congenitally speechless child. Explains that in spite of a complete oral apraxia, the child developed normal intelligence and acquired complete mastery of reading and writing skills. Notes that though both his verbal memory and metaphonological skills were surprisingly preserved, he showed relative impairment in…

  10. Making sense of congenital cardiac disease with a research database: The Congenital Heart Surgeons' Society Data Center.

    PubMed

    Hickey, Edward J; McCrindle, Brian W; Caldarone, Christopher A; Williams, William G; Blackstone, Eugene H

    2008-12-01

    Challenges inherent in researching rare congenital cardiac lesions led to creation of the Congenital Heart Surgeons' Society Data Center (Data Center) two decades ago. The Data Center pools experiences from up to 60 institutions, and over 4,700 children have been prospectively recruited within nine diagnostic inception cohorts. This report describes the operations of our research database, with particular focus on analytic strategies employed. A procedural log is created of all investigations and interventions, and reports from enrolling institutions are subsequently obtained. Cross-sectional follow-up is undertaken annually by the Data Center. All data are linked to the individual child, and quality control mechanisms ensure that completeness and accuracy are maximised. Specific advantages of Data Center analytic approaches include multi-phase parametric hazard analysis, re-sampling techniques for reliable risk factor identification, competing risks methodology, and propensity-adjusted comparisons. Virtues of applying these techniques to a research database are illustrated by clinically pertinent questions that have been addressed in place of what would be difficult through randomised trials. The Data Center is a cost-effective, versatile tool for researching congenital cardiac surgical outcomes. Research databases are ideally suited to in-depth investigations of survival and functional outcomes. Multi-center propensity-adjusted analyses represent efficient surrogates for randomised trials. Well-designed observational prospective studies should remain a principle mode of researching congenital cardiac disease.

  11. Congenital anomalies in Primorsky region.

    PubMed

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  12. Back to the future: stationary source testing for fine PM

    SciTech Connect

    Ron Myers

    2006-04-15

    Decisions will be necessary concerning the most appropriate stationary source test methodologies for continuing our efforts to clean up the atmosphere. In many regions of the United States, existing methods to measure stationary source pollutant emissions may be acceptable for the foreseeable future. However, other regions will require more comprehensive source measurement methods that expand the measured pollutants to include the full range of the atmospheric burden. Decisions about which path(s) to follow will depend on existing ambient air quality levels an the need to better quantify atmospheric emissions of primary PM from stationary sources, control stationary source primary PM to achieve the ambient air quality standard, and better understand the components of stationary source primary PM emissions. This article focuses on quantifying fine PM emissions from stationary sources, including Method 5B for utility plants. 24 refs., 1 tab.

  13. The application of unattended ground sensors to stationary targets

    SciTech Connect

    Sleefe, G.E.; Peglow, S.; Hamrick, R.

    1997-05-01

    The unattended sensing of stationary (i.e. non-mobile) targets is important in applications ranging from counter-proliferation to law enforcement. With stationary targets, sources of seismic, acoustic, and electro-magnetic emissions can potentially be used to detect, identify, and locate the target. Stationary targets have considerably different sensing requirements than the traditional mobile-target unattended ground sensor applications. This paper presents the novel features and requirements of a system for sensing stationary targets. In particular, issues associated with long-listen time signal processing for signal detection, and array processing techniques for signal localization are presented. Example data and signal processing outputs from a stationary target will be used to illustrate these issues. The impact on sensor, electronic signal processing, battery subsystem, and communication requirements will also be discussed. The paper will conclude with a detailed comparison between mobile-target and stationary-target unattended ground sensor architectures.

  14. Detection of Stationary Foreground Objects Using Multiple Nonparametric Background-Foreground Models on a Finite State Machine.

    PubMed

    Cuevas, Carlos; Martinez, Raquel; Berjon, Daniel; Garcia, Narciso

    2017-03-01

    There is a huge proliferation of surveillance systems that require strategies for detecting different kinds of stationary foreground objects (e.g., unattended packages or illegally parked vehicles). As these strategies must be able to detect foreground objects remaining static in crowd scenarios, regardless of how long they have not been moving, several algorithms for detecting different kinds of such foreground objects have been developed over the last decades. This paper presents an efficient and high-quality strategy to detect stationary foreground objects, which is able to detect not only completely static objects but also partially static ones. Three parallel nonparametric detectors with different absorption rates are used to detect currently moving foreground objects, short-term stationary foreground objects, and long-term stationary foreground objects. The results of the detectors are fed into a novel finite state machine that classifies the pixels among background, moving foreground objects, stationary foreground objects, occluded stationary foreground objects, and uncovered background. Results show that the proposed detection strategy is not only able to achieve high quality in several challenging situations but it also improves upon previous strategies.

  15. Analyzing stationary states of gene regulatory network using petri nets.

    PubMed

    Gambin, Anna; Lasota, Sławomir; Rutkowski, Michał

    2006-01-01

    We introduce and formally define the notion of a stationary state for Petri nets. We also propose a fully automatic method for finding such states. The procedure makes use of the Presburger arithmetic to describe all the stationary states. Finally we apply this novel approach to find stationary states of a gene regulatory network describing the flower morphogenesis of A. thaliana. This shows that the proposed method can be successfully applied in the study of biological systems.

  16. Analyzing stationary States of gene regulatory network using petri nets.

    PubMed

    Gambin, Anna; Lasota, Sławomir; Rutkowski, Michał

    2011-01-01

    We introduce and formally define the notion of a stationary state for Petri nets. We also propose a fully automatic method for finding such states. The procedure makes use of the Presburger arithmetic to describe all the stationary states. Finally we apply this novel approach to find stationary states of a gene regulatory network describing the flower morphogenesis of A. thaliana. This shows that the proposed method can be successfully applied in the study of biological systems.

  17. Comparative life cycle assessment of battery storage systems for stationary applications.

    PubMed

    Hiremath, Mitavachan; Derendorf, Karen; Vogt, Thomas

    2015-04-21

    This paper presents a comparative life cycle assessment of cumulative energy demand (CED) and global warming potential (GWP) of four stationary battery technologies: lithium-ion, lead-acid, sodium-sulfur, and vanadium-redox-flow. The analyses were carried out for a complete utilization of their cycle life and for six different stationary applications. Due to its lower CED and GWP impacts, a qualitative analysis of lithium-ion was carried out to assess the impacts of its process chains on 17 midpoint impact categories using ReCiPe-2008 methodology. It was found that in general the use stage of batteries dominates their life cycle impacts significantly. It is therefore misleading to compare the environmental performance of batteries only on a mass or capacity basis at the manufacturing outlet ("cradle-to-gate analyses") while neglecting their use stage impacts, especially when they have different characteristic parameters. Furthermore, the relative ranking of batteries does not show a significant dependency on the investigated stationary application scenarios in most cases. Based on the results obtained, the authors go on to recommend the deployment of batteries with higher round-trip efficiency, such as lithium-ion, for stationary grid operation in the first instance.

  18. Stationary charged scalar clouds around black holes in string theory

    NASA Astrophysics Data System (ADS)

    Bernard, Canisius

    2016-10-01

    It was reported that Kerr-Newman black holes can support linear charged scalar fields in their exterior regions. These stationary massive charged scalar fields can form bound states, which are called stationary scalar clouds. In this paper, we show that Kerr-Sen black holes can also support stationary massive charged scalar clouds by matching the near- and far-region solutions of the radial part of the Klein-Gordon wave equation. We also review stationary scalar clouds within the background of static electrically charged black hole solutions in the low-energy limit of heterotic string field theory, namely, the Gibbons-Maeda-Garfinkle-Horowitz-Strominger black holes.

  19. L0 Regularized Stationary-time Estimation for Crowd Analysis.

    PubMed

    Yi, Shuai; Wang, Xiaogang; Lu, Cewu; Jia, Jiaya; Li, Hongsheng

    2016-04-29

    In this paper, we tackle the problem of stationary crowd analysis which is as important as modeling mobile groups in crowd scenes and finds many important applications in crowd surveillance. Our key contribution is to propose a robust algorithm for estimating how long a foreground pixel becomes stationary. It is much more challenging than only subtracting background because failure at a single frame due to local movement of objects, lighting variation, and occlusion could lead to large errors on stationary-time estimation. To achieve robust and accurate estimation, sparse constraints along spatial and temporal dimensions are jointly added by mixed partials (which are second-order gradients) to shape a 3D stationary-time map. It is formulated as an L0 optimization problem. Besides background subtraction, it distinguishes among different foreground objects, which are close or overlapped in the spatio-temporal space by using a locally shared foreground codebook. The proposed technologies are further demonstrated through three applications. 1) Based on the results of stationary-time estimation, twelve descriptors are proposed to detect four types of stationary crowd activities. 2) The averaged stationary-time map is estimated to analyze crowd scene structures. 3) The result of stationary-time estimation is also used to study the influence of stationary crowd groups to traffic patterns.

  20. Generalization of Carey's equality and a theorem on stationary population.

    PubMed

    Srinivasa Rao, Arni S R; Carey, James R

    2015-09-01

    Carey's Equality pertaining to stationary models is well known. In this paper, we have stated and proved a fundamental theorem related to the formation of this Equality. This theorem will provide an in-depth understanding of the role of each captive subject, and their corresponding follow-up duration in a stationary population. We have demonstrated a numerical example of a captive cohort and the survival pattern of medfly populations. These results can be adopted to understand age-structure and aging process in stationary and non-stationary population models.

  1. Exchangeable, stationary, and entangled chains of Gaussian states

    NASA Astrophysics Data System (ADS)

    Parthasarathy, K. R.; Sengupta, Ritabrata

    2015-10-01

    We explore conditions on the covariance matrices of a consistent chain of mean zero finite mode Gaussian states in order that the chain may be exchangeable or stationary. For an exchangeable chain, our conditions are necessary and sufficient. Every stationary Gaussian chain admits an asymptotic entropy rate. Whereas an exchangeable chain admits a simple expression for its entropy rate, in our examples of stationary chains, the same admits an integral formula based on the asymptotic eigenvalue distribution for Toeplitz matrices. An example of a stationary entangled Gaussian chain is given.

  2. The problem on stationary states in self gravitational field

    NASA Astrophysics Data System (ADS)

    Fisenko, Stanislav

    2017-01-01

    To follow is the problem on stationary states of an electron in its own gravitational field where the boundary conditions earlier described by are made specific. The simplest approximation provides an assessment of the energy spectrum of stationary states only. Nevertheless, this is enough to confirm the existence of such stationary states and to further elaborate a detailed solution of the problem on stationary states including determination of all the quantum numbers' spectra and corresponding wave functions. No other matters are discussed here. The case in hand is a purely mathematical problem, further physical interpretation of which is of a fundamental value.

  3. Universal Preparability of States and Asymptotic Completeness

    NASA Astrophysics Data System (ADS)

    Gohm, Rolf; Haag, Florian; Kümmerer, Burkhard

    2017-05-01

    We introduce a notion of universal preparability for a state of a system, more precisely: for a normal state on a von Neumann algebra. It describes a situation where from an arbitrary initial state it is possible to prepare a target state with arbitrary precision by a repeated interaction with a sequence of copies of another system. For B(H) we give criteria sufficient to ensure that all normal states are universally preparable which can be verified for a class of non-commutative birth and death processes realized, in particular, by the interaction of a micromaser with a stream of atoms. As a tool, the theory of tight sequences of states and of stationary states is further developed and we show that in the presence of stationary faithful normal states universal preparability of all normal states is equivalent to asymptotic completeness, a notion studied earlier in connection with the scattering theory of non-commutative Markov processes.

  4. Balance outcomes following a tap dance program for a child with congenital myotonic muscular dystrophy.

    PubMed

    Biricocchi, Charlanne; Drake, JaimeLynn; Svien, Lana

    2014-01-01

    This case report describes the effects of a 6-week progressive tap dance program on static and dynamic balance for a child with type 1 congenital myotonic muscular dystrophy (congenital MMD1). A 6-year-old girl with congenital MMD1 participated in a 1-hour progressive tap dance program. Classes were held once a week for 6 consecutive weeks and included 3 children with adaptive needs and 1 peer with typical development. The Bruininks-Oseretsky Test of Motor Proficiency, second edition (BOT-2) balance subsection and the Pediatric Balance Scale were completed at the beginning of the first class and the sixth class. The participant's BOT-2 score improved from 3 to 14. Her Pediatric Balance Scale score did not change. Participation in a progressive tap dance class by a child with congenital MMD1 may facilitate improvements in static and dynamic balance.

  5. Congenital fetal heart block: a potential therapeutic role for intravenous immunoglobulin.

    PubMed

    David, Anna L; Ataullah, Ifat; Yates, Rob; Sullivan, Ian; Charles, Peter; Williams, David

    2010-08-01

    Congenital heart block affects 2% of all mothers with anti-Ro/La antibodies, can cause heart failure in utero, and has a 20% mortality rate in the first 3 years of life. Maternal fluorinated steroids to prevent or reverse congenital heart block can cause pregnancy complications. Intravenous immunoglobulin (IVIG) has been given with maternal steroids to prevent the recurrence of congenital heart block, although its efficacy is unproven. We report the use of IVIG to prevent progression of 2:1 congenital heart block with intermittent complete heart block. After two maternal infusions of IVIG (0.4 g/kg) at 31 weeks of gestation, the fetal heart rate reverted to long periods of sinus rhythm, which was sustained until postnatal life. Our case supports investigating IVIG in the prevention or treatment of this life-threatening condition.

  6. Stationary turbine component with laminated skin

    DOEpatents

    James, Allister W [Orlando, FL

    2012-08-14

    A stationary turbine engine component, such as a turbine vane, includes a internal spar and an external skin. The internal spar is made of a plurality of spar laminates, and the external skin is made of a plurality of skin laminates. The plurality of skin laminates interlockingly engage the plurality of spar laminates such that the external skin is located and held in place. This arrangement allows alternative high temperature materials to be used on turbine engine components in areas where their properties are needed without having to make the entire component out of such material. Thus, the manufacturing difficulties associated with making an entire component of such a material and the attendant high costs are avoided. The skin laminates can be made of advanced generation single crystal superalloys, intermetallics and refractory alloys.

  7. Landau superfluids as nonequilibrium stationary states

    SciTech Connect

    Wreszinski, Walter F.

    2015-01-15

    We define a superfluid state to be a nonequilibrium stationary state (NESS), which, at zero temperature, satisfies certain metastability conditions, which physically express that there should be a sufficiently small energy-momentum transfer between the particles of the fluid and the surroundings (e.g., pipe). It is shown that two models, the Girardeau model and the Huang-Yang-Luttinger (HYL) model, describe superfluids in this sense and, moreover, that, in the case of the HYL model, the metastability condition is directly related to Nozières’ conjecture that, due to the repulsive interaction, the condensate does not suffer fragmentation into two (or more) parts, thereby assuring its quantum coherence. The models are rigorous examples of NESS in which the system is not finite, but rather a many-body system.

  8. Flood frequency analysis of historical flood data under stationary and non-stationary modelling

    NASA Astrophysics Data System (ADS)

    Machado, M. J.; Botero, B. A.; López, J.; Francés, F.; Díez-Herrero, A.; Benito, G.

    2015-01-01

    Historical records are an important source of information about extreme and rare floods with a great value to establish a reliable flood return frequency. The use of long historic records for flood frequency analysis brings in the question of flood stationarity, since climatic and land-use conditions can affect the relevance of past flooding as a predictor of future flooding. In this paper, a detailed 400 year flood record from the Tagus River in Aranjuez (Central Spain) was analysed under stationary and non-stationary flood frequency approaches, to assess their implications on hazard studies. Historical flood records in Aranjuez were obtained from documents (Proceedings of the City Council, diaries, chronicles, memoirs, etc.), epigraphic marks, and indirect historical sources and reports. The water levels associated with different floods (derived from descriptions or epigraphic marks) were computed into discharge values using a one-dimensional hydraulic model. Secular variations on flood magnitude and frequency, found to respond to climate and environmental drivers, showed a good correlation between high values of historical flood discharges and a negative mode of the North Atlantic Oscillation index (NAO index). Over the systematic gauge record (1913-2008), an abrupt change on flood magnitude was produced in 1957 due to constructions of three major reservoirs in the Tagus headwaters (Bolarque, Entrepeñas and Buendia) controlling 80% of the watershed surface draining to Aranjuez. Two different models were used for the flood frequency analysis: (a) a stationary model estimating statistical distributions incorporating imprecise and categorical data based on maximum likelihood estimators; (b) a time-varying model based on "generalized additive models for location, scale and shape" (GAMLSS) modelling, that incorporates external covariates related to climate variability (NAO index) and catchment hydrology factors (in this paper a reservoir index; RI). Flood frequency

  9. Flood frequency analysis of historical flood data under stationary and non-stationary modelling

    NASA Astrophysics Data System (ADS)

    Machado, M. J.; Botero, B. A.; López, J.; Francés, F.; Díez-Herrero, A.; Benito, G.

    2015-06-01

    Historical records are an important source of information on extreme and rare floods and fundamental to establish a reliable flood return frequency. The use of long historical records for flood frequency analysis brings in the question of flood stationarity, since climatic and land-use conditions can affect the relevance of past flooding as a predictor of future flooding. In this paper, a detailed 400 yr flood record from the Tagus River in Aranjuez (central Spain) was analysed under stationary and non-stationary flood frequency approaches, to assess their contribution within hazard studies. Historical flood records in Aranjuez were obtained from documents (Proceedings of the City Council, diaries, chronicles, memoirs, etc.), epigraphic marks, and indirect historical sources and reports. The water levels associated with different floods (derived from descriptions or epigraphic marks) were computed into discharge values using a one-dimensional hydraulic model. Secular variations in flood magnitude and frequency, found to respond to climate and environmental drivers, showed a good correlation between high values of historical flood discharges and a negative mode of the North Atlantic Oscillation (NAO) index. Over the systematic gauge record (1913-2008), an abrupt change on flood magnitude was produced in 1957 due to constructions of three major reservoirs in the Tagus headwaters (Bolarque, Entrepeñas and Buendia) controlling 80% of the watershed surface draining to Aranjuez. Two different models were used for the flood frequency analysis: (a) a stationary model estimating statistical distributions incorporating imprecise and categorical data based on maximum likelihood estimators, and (b) a time-varying model based on "generalized additive models for location, scale and shape" (GAMLSS) modelling, which incorporates external covariates related to climate variability (NAO index) and catchment hydrology factors (in this paper a reservoir index; RI). Flood frequency

  10. Baroclinic stationary waves in aquaplanet models

    NASA Astrophysics Data System (ADS)

    Lucarini, V.; Zappa, G.

    2012-04-01

    An aquaplanet model is used to study the nature of the highly persistent low frequency waves that have been observed in models forced by zonally symmetric boundary conditions. Using the Hayashi spectral analysis of the extratropical waves, we find that a quasi-stationary (QS) wave five belongs to a wave packet obeying a well defined dispersion relation with eastward group velocity. The components of the dispersion relation with k>5 baroclinically convert eddy available potential energy into eddy kinetic energy, while those with k<5 are baroclinically neutral. In agreement with the Green's model of baroclinic instability, the wave five is weakly unstable, and the inverse energy cascade, which had been previously proposed as a main forcing for this type of waves, only acts as a positive feedback on its predominantly baroclinic energetics. The QS wave is reinforced by a phase lock to an analogous pattern in the tropical convection, which provides further amplification to the wave. We also find that the Pedlosky bounds on the phase speed of unstable waves provide guidance in explaining the latitudinal structure of the energy conversion, which is shown to be more enhanced where the zonal westerly surface wind is weaker. The wave energy is then trapped in the wave guide created by the upper tropospheric jet stream. In agreement with Green's theory, as the equator to pole SST difference is reduced the stationary marginally stable component shifts toward higher wavenumbers, while the wave five becomes neutral and westward propagating. Some properties of the aquaplanet QS waves are found in interesting agreement with a low frequency wave observed by Salby (1982) in the southern hemisphere DJF, so that this perspective on low frequency variability might be, apart from its value in terms of basic geophysical fluid dynamics, of specific interest for studying the Earth's atmosphere.

  11. Self-organized stationary states of tokamaks

    NASA Astrophysics Data System (ADS)

    Jardin, Stephen

    2015-11-01

    We report here on a nonlinear mechanism that forms and maintains a self-organized stationary (sawtooth free) state in tokamaks. This process was discovered by way of extensive long-time simulations using the M3D-C1 3D extended MHD code in which new physics diagnostics have been added. It is well known that most high-performance modes of tokamak operation undergo ``sawtooth'' cycles, in which the peaking of the toroidal current density triggers a periodic core instability which redistributes the current density. However, certain modes of operation are known, such as the ``hybrid'' mode in DIII-D, ASDEX-U, JT-60U and JET, and the long-lived modes in NSTX and MAST, which do not experience this cycle of instability. Empirically, it is observed that these modes maintain a non-axisymmetric equilibrium which somehow limits the peaking of the toroidal current density. The physical mechanism responsible for this has not previously been understood, but is often referred to as ``flux-pumping,'' in which poloidal flux is redistributed in order to maintain q0 >1. In this talk, we show that in long-time simulations of inductively driven plasmas, a steady-state magnetic equilibrium may be obtained in which the condition q0 >1 is maintained by a dynamo driven by a stationary marginal core interchange mode. This interchange mode, unstable because of the pressure gradient in the ultra-low shear region in the center region, causes a (1,1) perturbation in both the electrostatic potential and the magnetic field, which nonlinearly cause a (0,0) component in the loop voltage that acts to sustain the configuration. This hybrid mode may be a preferred mode of operation for ITER. We present parameter scans that indicate when this sawtooth-free operation can be expected.

  12. Partial Cervical Agenesis and Complete Vaginal Atresia.

    PubMed

    Kimble, Rebecca; Molloy, Genevieve; Sutton, Bridget

    2016-06-01

    The objective of this study was to report 2 cases of the combined congenital anomalies of complete vaginal atresia and partial cervical agenesis, and highlight the limitations of magnetic resonance imaging for definitive initial diagnosis, and consequently the importance of early definitive management, to avoid life-threatening sepsis. Herein we provide a retrospective case audit of two patients with congenital abnormalities between 2005 and 2013 who were treated in a quaternary statewide pediatric and adolescent gynecology center. Two patients with the combined congenital anomalies of complete vaginal agenesis and partial cervical agenesis highlight the difficulties encountered with the limitations of magnetic resonance imaging in accuracy of diagnosis, as well as development of life-threatening sepsis that requires hysterectomy. Both patients were initially imaged as having distended endometrial cavities and cervical canals with what was thought to be an obstructive upper vaginal septum and absent lower vagina. Both required initial neovagina creation, however the cervices were never clinically or surgically visualized. Partial cervical agenesis is a relatively rare form of Müllerian abnormality which, if not diagnosed and definitively treated early, can have significant morbidity and mortality. Although magnetic resonance imaging is the diagnostic imaging gold standard for Müllerian abnormalities, it is important to recognize the limitations of this modality, the potential sequelae of these limitations, and to appreciate the importance of early accurate diagnosis and treatment of this condition. Importantly, if the imaging diagnosis does not completely correlate with the clinical and surgical findings, then a high suspicion of complete or partial cervical agenesis is prudent, because the consequences of nondefinitive early treatment can be life-threatening and potentially fatal. Crown Copyright © 2016. Published by Elsevier Inc. All rights reserved.

  13. [Interventional catheterization in congenital heart disease in the adult].

    PubMed

    Rey, C; Godart, F

    2002-11-01

    Interventional catheterisation comprises performing a palliative or curative procedure during arterial or venous cardiac catheterisation. This procedure can be performed at any age, equally well in the newborn or adults affected by congenital cardiopathy: in order to definitively treat a congenital cardiopathy, unrecognised in infancy but diagnosed in adulthood, such as pulmonary valvular stenosis, coarctation of the aorta, persistent ductus arteriosus, ostium secundum type interatrial communication, coronaro-cardiac fistula, pulmonary arterio-venous fistula, and patent foramen ovale; in order to improve the haemodynamic state of a complex congenital cardiopathy, for example by creating an interatrial communication, or by opening the pulmonary route in a complex cardiopathy which cannot be completely repaired; in order to complete a surgical procedure, to treat recurrence of peripheral pulmonary stenosis or recurrence of coarctation, and to embolise the systemic vessels leading off the aorta or veno-venous anastomoses after cavopulmonary intervention. Paediatric cardiology can lead to occlusion of a left-right or right-left shunt with different devices, alleviation of an arterial or venous valvular stenosis with dilatation catheters, or implantation of endoprostheses in arterial or venous stenoses.

  14. Protein patterns of brush-border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult.

    PubMed

    Freiburghaus, A U; Schmitz, J; Schindler, M; Rotthauwe, H W; Kuitunen, P; Launiala, K; Hadorn, B

    1976-05-06

    Brush-border membrane proteins of the small-bowel mucosa were separated on polyacrylamide gels from intestinal biopsy specimens obtained from four children with congenital lactose malabsorption and from two adults with specific hypolactasia. In three patients with the congenital type of lactase deficiency the protein band corresponding to brush-border lactase was reduced in intensity, but was never completely absent. No difference in gel patterns was detected when this pattern in congenital deficiency was compared to that obtained from the two patients with adult-type selective hypolactasia. In one patient with congenital lactose malabsorption the protein band corresponding to lactase activity was not detectable. The findings suggest that the mechanisms leading to low lactase activity in the congenital and adult forms of lactose intolerance are similar.

  15. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  16. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-01-01

    Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH). In the present review, a brief back ground about congenital hypothyroidism, factors associated with CH leading to thyroid dysgenesis and thyroid dyshormonogenesis is elaborated. Additionally, the guidelines for available treatment options, management and follow-up required for patients diagnosed with CH are discussed. Treatment options in terms of treatment initiation and dosage of hormone replacement are discussed. Though CH is considered as the most common neonatal metabolic disorder, it is also easily treatable compared to other metabolic or hereditary diseases. The outcome of CH treatment depends on the compliance of parents early in life and by patients themselves during later part of life. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  17. [Radiological evaluation of congenital tumors].

    PubMed

    Aguado del Hoyo, A; Ruiz Martín, Y; Lancharro Zapata, Á; Marín Rodríguez, C; Gordillo Gutiérrez, I

    2015-01-01

    In this article, we consider tumors that are diagnosed during pregnancy or in the first three months of life. This is a heterogeneous group of neoplasms with special biological and epidemiological characteristics that differentiate them from tumors arising in children or adults. In the last two decades, the prenatal detection of congenital tumors has increased due to the generalized use of prenatal sonographic screening. Advances in imaging techniques, especially in fetal magnetic resonance imaging, have enabled improvements in the diagnosis, follow-up, clinical management, and perinatal treatment of these tumors. This image-based review of the most common congenital tumors describes their histologic types, locations, and characteristics on the different imaging techniques used.

  18. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  19. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  20. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  1. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  2. Classifying sex biased congenital anomalies

    SciTech Connect

    Lubinsky, M.S.

    1997-03-31

    The reasons for sex biases in congenital anomalies that arise before structural or hormonal dimorphisms are established has long been unclear. A review of such disorders shows that patterning and tissue anomalies are female biased, and structural findings are more common in males. This suggests different gender dependent susceptibilities to developmental disturbances, with female vulnerabilities focused on early blastogenesis/determination, while males are more likely to involve later organogenesis/morphogenesis. A dual origin for some anomalies explains paradoxical reductions of sex biases with greater severity (i.e., multiple rather than single malformations), presumably as more severe events increase the involvement of an otherwise minor process with opposite biases to those of the primary mechanism. The cause for these sex differences is unknown, but early dimorphisms, such as differences in growth or presence of H-Y antigen, may be responsible. This model provides a useful rationale for understanding and classifying sex-biased congenital anomalies. 42 refs., 7 tabs.

  3. Hirschsprungs disease with congenital hypothyroidism.

    PubMed

    Kota, Sunil Kumar; Modi, K D; Rao, Madan Mohan

    2012-03-01

    We report a female newborn baby who presented with vomiting and abdominal distension on day 21 of life. Examination revealed facial puffiness, open posterior fontanelles, dry skin, cold peripheries and prominent abdominal veins with visible peristalsis. Barium enema revealed dilated proximal colon, empty rectum, funnel like transition zone between proximal dilated and distal constricted bowel. Serum TSH level was >;150 uIU/mL. Biopsy revealed aganglionic segment suggesting Hirschsprungs disease, an unusual association with congenital hypothyroidism.

  4. Genetic appraisal of congenital cataract.

    PubMed

    Angra, S K; Rao, P; Panda, A; Grewal, M S

    1987-01-01

    A total of 45 congenital cataract cases were studied for chromosomal aberrations and dermatoglyphic patterns. Whereas parents showed no marked differences, patients showed marked differences in different dermatoglyphic traits as compared to age-sex matched controls. Out of all the patients Rubella, hereditary and undetected actiology groups showed variations differently, SCE were seen in all cataracts irrespective of their aetiology as compared to controls.

  5. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  6. [Congenital afibrinogenemia: a case report].

    PubMed

    El Boussaadni, Y; Benajiba, N; El Ouali, A; Amrani, R; Rkain, M

    2015-01-01

    Afibrinogenemia is a rare autosomal recessive disease. Its clinical manifestations vary in severity, ranging from minimal bleeding to cataclysmic hemorrhage, and can begin at birth or, sometimes, later. We report a case of a female infant, 10 months of age, hospitalized in the pediatrics department because of a postvaccination hematoma. Biologic exploration found congenital afibrinogenemia. Through this case, we review the clinical features of this disease and its management. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  7. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  8. [Congenital atrioventricular block and maternal autoimmune diseases].

    PubMed

    Herreman, G; Sauvaget, F; Généreau, T; Galezowski, N

    1990-01-01

    Congenital heart block is rare; it is acquired in utero, definitive and, more often than not, complete. It can be diagnosed by the appearance of fetal bradycardia around the 23rd week of gestation, during ultrasonographic monitoring of pregnancy. Heart block is usually associated with the presence of anti-Ro and/or anti-La antibodies in the mother's serum. These maternal immunological abnormalities can be isolated or associated with an autoimmune disease, usually systemic lupus erythematosus, but also Sjögren's syndrome, or more rarely still, an as yet unclassified connective tissue disease. Anti-Ro and anti-La antibodies cross the placental barrier and react with a fetal heart, leading to acute fetal myocarditis by the 17th week of gestation. When severe, it is lethal, otherwise it can result in degeneration and endocardial fibroelastosis, disrupting conduction and leading to congenital heart block. The ideal treatment would be prevention with corticosteroids. When the mother is Ro or La antibody-positive before pregnancy, elimination of these circulating antibodies can be attempted by treatment with 0.5 mg/kg body wt/d of prednisolone for 3 months. If the treatment is successful, corticotherapy can be prescribed early in the pregnancy to try to protect the fetus. However, there is not always a relationship between maternal anti-Ro antibodies and fetal heart block. If the Ro/La antibody-positive woman is already pregnant, but before her 17th week, it is possible to prescribe dexamethasone, which crosses the placenta and remains active, sometimes in association with plasmapheresis.

  9. Hawking radiation of stationary and non-stationary Kerr-de Sitter black holes

    NASA Astrophysics Data System (ADS)

    Singh, T. Ibungochouba

    2015-07-01

    Hawking radiation of the stationary Kerr-de Sitter black hole is investigated using the relativistic Hamilton-Jacobi method. Meanwhile, extending this work to a non-stationary black hole using Dirac equations and generalized tortoise coordinate transformation, we derived the locations, the temperature of the thermal radiation as well as the maximum energy of the non-thermal radiation. It is found that the surface gravity and the Hawking temperature depend on both time and different angles. An extra coupling effect is obtained in the thermal radiation spectrum of Dirac particles which is absent from thermal radiation of scalar particles. Further, the chemical potential derived from the thermal radiation spectrum of scalar particle has been found to be equal to the highest energy of the negative energy state of the scalar particle in the non-thermal radiation for the Kerr-de Sitter black hole. It is also shown that for stationary black hole space time, these two different methods give the same Hawking radiation temperature.

  10. Scale parameters in stationary and non-stationary GEV modeling of extreme precipitation

    NASA Astrophysics Data System (ADS)

    Panagoulia, Dionysia; Economou, Polychronis; Caroni, Chrys

    2013-04-01

    The generalized extreme value (GEV) distribution is often fitted to environmental time series of extreme values such as annual maxima of daily precipitation. We study two methodological issues here. First we compare methods of selecting the best model among a set of 16 GEV models that allow non-stationary scale and location parameters. Results of simulation studies showed that both the Akaike information criterion (AIC) and the Bayesian information criterion (BIC) correctly detected non-stationarity but the BIC was superior in selecting the correct model more often. The second issue is how best to produce confidence intervals (CIs) for the parameters of the model and other quantities such as the return levels that are usually required for hydrological and climatological time series. Four bootstrap CIs - normal, percentile, basic, and bias corrected and accelerated (BCa) - constructed by random-t resampling, fixed-t resampling and the parametric bootstrap methods were compared. CIs for parameters of the stationary model do not present major differences. CIs for the more extreme quantiles tend to become very wide for all bootstrap methods. For non-stationary GEV models with linear time dependence of location or log-linear time dependence of scale, coverage probabilities of the CIs are reasonably accurate for the parameters. For the extreme percentiles, the BCa method is best overall and the fixed-t method also gives good average coverage probabilities.

  11. Syndromes with congenital brittle bones.

    PubMed

    Plotkin, Horacio

    2004-08-31

    There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). A debate about the definition of OI and a possible clinical and prognostic classification are warranted.

  12. Syndromes with congenital brittle bones

    PubMed Central

    Plotkin, Horacio

    2004-01-01

    Background There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). Discussion A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). Summary A debate about the definition of OI and a possible clinical and prognostic classification are warranted. PMID:15339338

  13. Congenital Portosystemic Shunt: Our Experience

    PubMed Central

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  14. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  15. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  16. Device Extraction in Adults with Congenital Heart Disease

    PubMed Central

    CESARIO, DAVID; KEDIA, ROHIT; DESAI, NIRAV; ABOULHOSN, JAMIL; USLAN, DANIEL; BOYLE, NOEL; FUJIMURA, OSAMU; SHEHATA, MICHAEL; BUCH, ERIC; SHIVKUMAR, KALYANAM

    2010-01-01

    Background Device extraction is a critical component in the treatment of patients with device-related infections. Due to complex anatomic considerations, device extraction in adults with congenital heart disease presents unique challenges to the electrophysiologist. Methods Here, we present a series of device-extraction cases performed in patients with transposition of the great arteries status post either Mustard or Senning surgical procedures that subsequently had permanent pacemakers placed and ultimately developed device-related infections. Results All of these patients eventually underwent successful laser extractions of their infected devices resulting in complete removal of all hardware and resolution of their infections. Conclusions These cases illustrate that endovascular device extraction has been safely and effectively performed in adult patients with congenital heart disease, though further studies are needed to determine the procedural risks and success rates of this procedure in this patient population. PMID:19272064

  17. Congenital Splenic Cyst Treated with Percutaneous Sclerosis Using Alcohol

    SciTech Connect

    Anon, Ramon Guijarro, Jorge; Amoros, Cirilo; Gil, Joaquin; Bosca, Marta M.; Palmero, Julio; Benages, Adolfo

    2006-08-15

    We report a case of successful percutaneous treatment of a congenital splenic cyst using alcohol as the sclerosing agent. A 14-year-old female adolescent presented with a nonsymptomatic cystic mass located in the spleen that was believed to be congenital. After ultrasonography, a drainage catheter was placed in the cavity. About 250 ml of serous liquid was extracted and sent for microbiologic and pathologic studies to rule out an infectious or malignant origin. Immediately afterwards, complete drainage and local sclerotherapy with alcohol was performed. This therapy was repeated 8 days later, after having observed 60 ml of fluid in the drainage bag. One year after treatment the cyst has practically disappeared. We believe that treatment of splenic cyst with percutaneous puncture, ethanolization, and drainage is a valid option and it does not rule out surgery if the conservative treatment fails.

  18. [Congenital transmission of Trypanosoma cruzi infection in Argentina].

    PubMed

    Sosa-Estani, Sergio

    2005-01-01

    Congenital transmission of Trypanosoma cruzi infection in Argentina has being increasing its relative importance with control of vectorial and transfusional transmission growth. It is for this reason that vertical transmission is seen, in the future, as a continuous source of infected newborns, even with vectorial and transfusional transmission completely controlled. Preventing vertical transmission of T.cruzi is not possible, but it can be precociously detected, permitting mother and child to be incorporated into the medical attention system, and so allowing the newbornś treatment with practically 100% efficacy. It is estimated that between 800 and 1700 children infected with T. cruzi by congenital transmission are born in Argentina, per year. The implementation of an early strategy of detection for an effective and opportune treatment acquires great relevance as a Public Health measure.

  19. Congenital absence of the pericardium presenting as acute myocardial necrosis

    PubMed Central

    Brulotte, Steeve; Roy, Louis; Larose, Eric

    2007-01-01

    Congenital absence of the pericardium is a rare defect of which recognition is critical because it can be associated with catastrophic outcomes. While some carriers of this condition may present with a lethal complication, most are asymptomatic, and the defect is found incidentally. The case of a 49-year-old woman is described who presented with acute myocardial necrosis and absence of obstructive coronary artery disease, and in whom a complete left pericardial defect was found. An investigation was undertaken to determine the role of the defect in this patient’s presentation and to recommend the best possible therapy. Finally, a review of literature focusing on congenital absence of the pericardium, as well as a discussion of clinical presentation, imaging techniques and therapeutic options, is also presented. PMID:17876387

  20. Results of shortened program of Ponseti technique for congenital clubfoot.

    PubMed

    Sugandhavesa, Nantawit; Cheewawattanachai, Chaiyarit; Luevitoonvechkij, Sirichai; Khunsree, Songsak

    2015-01-01

    To study the results and complications of congenital clubfoot treatment using a shortened (twice a week) program of serial casting using Ponseti technique. Sixteen patients with congenital clubfoot (26 feet) were treated by serial manipulation and casting twice a week until acceptable deformity correction (60 degrees of abduction with or without equinus deformity) were achieved Seventeen patients (65%) required less than three weeks in treatment to improvement in the deformity, while eight patients (30%) required more than three weeks of treatment. This period of treatment is at least two weeks shorter than the conventional Ponseti technique. One patient did not complete treatment due to hospital-acquired pneumonia. Four patients who developed pressure ulcers from the castings were continued in treatment and all achieved successful correction. A shortened program of clubfoot correction using the Ponseti technique can be effective for correcting uncomplicated clubfoot without serious complications.

  1. Simultaneous repair of pectus excavatum and pulmonary valve implantation years after complete repair of tetralogy of Fallot.

    PubMed

    Tuncer, Eylem; Vuran, Ali Can; Ozyuksel, Arda; Yeginsu, Ali; Ceyran, Hakan

    2017-02-01

    Although pectus excavatum is a common congenital abnormality of the chest wall, its coexistence with congenital heart defects is rarely encountered. In this report, we present a young adult who was re-operated for pulmonary valve regurgitation and pectus excavatum years after complete repair of tetralogy of Fallot. The surgical challenge and pitfalls are discussed along with a brief review of the literature.

  2. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  3. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  4. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  5. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  6. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped with: (1) Peripheral hoods (less than 90° throat openings) capable...

  7. Stationary to nonstationary transition in crossed-field devices

    SciTech Connect

    Marini, Samuel; Rizzato, Felipe B.; Pakter, Renato

    2016-03-15

    The previous results based on numerical simulations showed that a cold electron beam injected in a crossed field gap does not reach a time independent stationary state in the space charge limited regime [P. J. Christenson and Y. Y. Lau, Phys. Plasmas 1, 3725 (1994)]. In this work, the effect of finite injection temperature in the transition from stationary to nonstationary states is investigated. A fully kinetic model for the electron flow is derived and used to determine the possible stationary states of the system. It is found that although there is always a stationary solution for any set of parameters, depending on the injection temperature the electron flow becomes very sensitive to fluctuations and the stationary state is never reached. By investigating the nonlinear dynamics of a characteristic electron, a theory based on a single free parameter is constructed to predict when the transition between stationary and nonstationary states occurs. In agreement with the previous numerical results, the theory indicates that for vanishing temperatures the system never reaches the time independent stationary state in the space charge limited regime. Nevertheless, as the injection temperature is raised it is found a broad range of system parameters for which the stationary state is indeed attained. By properly adjusting the free parameter in the theory, one can be able to describe, to a very good accuracy, when the transition occurs.

  8. Optimal loads for a 30-s maximal power cycle ergometer test using a stationary start.

    PubMed

    Vargas, Nicole T; Robergs, Robert A; Klopp, Dawn M

    2015-05-01

    A stationary start modification to the Wingate Anaerobic Test (WAnT) has become increasingly common. The aim of the present study was to determine whether the traditional 85 g kg(-1) body weight (BW) load (TRAD), or an individualized optimal load (OPT), is more suitable for obtaining peak and mean power outputs (PPO and MPO, respectively) for a stationary start. Twelve recreationally active males and 10 females (mean age 30 ± 9.1 and 25 ± 5.5 years, respectively) completed three trials. The first determined the OPT load and included a familiarization of the 30-s stationary start test, followed by two randomized sessions testing the OPT and TRAD loads during the 30-s stationary start test on separate days. For each test, measures of power (watts), time, and cadence were collected to determine PPO, MPO, rate of power decline (rPD) and time to peak power (TtPP). All power data were corrected for flywheel moment of inertia. Results revealed significant differences between OPT and TRAD load settings for males (95.1 ± 10.7 and 85.06 ± 0.40 g kg(-1) BW; p = 0.008) but not for females (84.71 ± 8.72 and 85.2 ± 0.61 g kg(-1) BW; p = 0.813). Relative PPO was not different for OPT or TRAD loads for males (p = 0.485) or females (p = 0.488). It is not necessary to use an OPT load setting to acquire maximal PO for a 30-s cycle test using a stationary start. Instead, the traditional 85 g kg(-1) BW loading is suitable for both males and females.

  9. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  10. Congenital rubella in the USSR

    PubMed Central

    Kantorovič, R. A.; Volodina, N. I.; Teleševskaja, E. A.; Avdina, A. I.; Sokolova, N. M.; Beleckaja, L. V.; Černova, M. P.; Farber, N. A.

    1979-01-01

    The results of a comprehensive study of the problem of congenital rubella in Moscow and other cities of the USSR are presented. The highest rubella incidence was found among children 1-7 years of age; but 20-25 rubella cases were also recorded annually per 100 000 adults. Specific antihaemagglutinins were found in 36-70% of children and in 91-99% of adults. Investigation of the rubella foci revealed clinical rubella, confirmed by laboratory methods, in children and adults who had low initial titres of specific antihaemagglutinins. Serological screening of 1661 apparently healthy pregnant women detected antihaemagglutinins in 98.4%; however, low (1:8-1:16) titres were found in 53.3% and high (postinfection) titres and specific IgM in only 8.8% of cases. A study of 523 pregnant women who had been in contact with a source of infection revealed clinical rubella in 10.9% and inapparent infection in 0.7% of cases. A virological study of fetuses from infected pregnant women showed that there was intrauterine viral infection in 73% of cases; 38% of rubella-infected fetuses had congenital defects (unilateral or bilateral cataract, absence of one cerebral hemisphere, adhesion of the upper and lower eyelid, or diffuse damage of the crystalline lens); in one woman rubella virus was isolated from the fetuses and abortion materials received from two abortions with an interval of 6 months. Serological investigation of 519 mothers who had given birth to children with congenital defects showed that there were more frequent indications of rubella infection in the mothers of the children with CNS and cardiovascular defects, as well as in the children with congenital cardiovascular and CNS defects, than in the control groups. These data confirmed the teratogenic nature of rubella strains found in the USSR. This study indicates the need to improve rubella surveillance in pregnant women and to consider the prophylaxis of congenital rubella in the USSR. (See also Addendum.) ImagesFig. 1

  11. Direct imaging of slow, stored and stationary EIT polaritons

    NASA Astrophysics Data System (ADS)

    Campbell, Geoff T.; Cho, Young-Wook; Su, Jian; Everett, Jesse; Robins, Nicholas; Lam, Ping Koy; Buchler, Ben

    2017-09-01

    Stationary and slow light effects are of great interest for quantum information applications. Using laser-cooled Rb87 atoms, we performed side imaging of our atomic ensemble under slow and stationary light conditions, which allows direct comparison with numerical models. The polaritons were generated using electromagnetically induced transparency (EIT), with stationary light generated using counter-propagating control fields. By controlling the power ratio of the two control fields, we show fine control of the group velocity of the stationary light. We also compare the dynamics of stationary light using monochromatic and bichromatic control fields. Our results show negligible difference between the two situations, in contrast to previous work in EIT-based systems.

  12. Stationary stability for evolutionary dynamics in finite populations

    SciTech Connect

    Harper, Marc; Fryer, Dashiell

    2016-08-25

    Here, we demonstrate a vast expansion of the theory of evolutionary stability to finite populations with mutation, connecting the theory of the stationary distribution of the Moran process with the Lyapunov theory of evolutionary stability. We define the notion of stationary stability for the Moran process with mutation and generalizations, as well as a generalized notion of evolutionary stability that includes mutation called an incentive stable state (ISS) candidate. For sufficiently large populations, extrema of the stationary distribution are ISS candidates and we give a family of Lyapunov quantities that are locally minimized at the stationary extrema and at ISS candidates. In various examples, including for the Moran andWright–Fisher processes, we show that the local maxima of the stationary distribution capture the traditionally-defined evolutionarily stable states. The classical stability theory of the replicator dynamic is recovered in the large population limit. Finally we include descriptions of possible extensions to populations of variable size and populations evolving on graphs.

  13. Indications for microsurgical reconstruction of congenital hand anomalies by toe-to-hand transfers.

    PubMed

    Jones, Neil F; Kaplan, Jesse

    2013-12-01

    The indications for microsurgical toe-to-hand transfers in congenital hand surgery have not been defined as clearly as for posttraumatic reconstruction of thumb and finger amputations. The purpose of this study was to develop simple guidelines for referral of children with congenital absent digits for consideration of microsurgical reconstruction with toe-to-hand transfers, based on the morphological or radiographic anatomy of the hand anomaly, not on embryological classifications. From a consecutive series of 204 children referred with congenital absence of the thumb and fingers, 100 toe-to-hand transfers were performed. The indications for microsurgical reconstruction of these children were analyzed retrospectively. Forty-one thumbs were reconstructed in 38 children-15 children with an absent thumb distal to the metacarpal base but with four relatively normal fingers; 12 children with an absent thumb and only one or two digits remaining on the ulnar side of the hand; and 11 children with complete absence of all five digits. Twenty-nine second toes and 12 great toes were transferred to reconstruct congenital absent thumbs. Fifty-nine fingers in 52 children were reconstructed mostly with single second toe transfers-41 children with a thumb but absence of all four fingers and 11 children with absence of all five digits. The morphological or radiographic anatomy of a child's hand with congenital absent digits is a more logical indication for microsurgical reconstruction than any embryological classification. The three most common indications for toe transfers for reconstruction of congenital absent thumbs are (1) absent thumb distal to the carpometacarpal joint with four relatively normal fingers, (2) absent thumb with only one or two fingers remaining on the ulnar border of the hand, and (3) complete absence of the thumb and all four fingers. The two indications for toe transfers for reconstruction of congenital absent fingers are (1) absence of all four fingers but

  14. Nomenclature and databases - the past, the present, and the future : a primer for the congenital heart surgeon.

    PubMed

    Jacobs, Jeffrey Phillip; Mavroudis, Constantine; Jacobs, Marshall Lewis; Maruszewski, Bohdan; Tchervenkov, Christo I; Lacour-Gayet, Francois G; Clarke, David Robinson; Gaynor, J William; Spray, Thomas L; Kurosawa, Hiromi; Stellin, Giovanni; Ebels, Tjark; Bacha, Emile A; Walters, Henry L; Elliott, Martin J

    2007-01-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for congenital heart disease. Five areas will be reviewed: (1) common language = nomenclature, (2) mechanism of data collection (database or registry) with an established uniform core data set, (3) mechanism of evaluating case complexity, (4) mechanism to ensure and verify data completeness and accuracy, and (5) collaboration between medical subspecialties. During the 1990s, both the Society of Thoracic Surgeons (STS) and the European Association for Cardiothoracic Surgery (EACTS) created congenital heart surgery outcomes databases. Beginning in 1998, the EACTS and STS collaborated in the work of the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common congenital heart surgery nomenclature, along with a common core minimal data set, were adopted by the EACTS and the STS and published in the Annals of Thoracic Surgery. In 2000, the International Nomenclature Committee for Pediatric and Congenital Heart Disease was established; this committee eventually evolved into the International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD). The working component of ISNPCHD is the International Working Group for Mapping and Coding of Nomenclatures for Paediatric and Congenital Heart Disease, also known as the Nomenclature Working Group (NWG). By 2005, the NWG cross-mapped the EACTS-STS nomenclature with the European Paediatric Cardiac Code of the Association for European Paediatric Cardiology and created the International Paediatric and Congenital Cardiac Code (IPCCC) ( http://www.IPCCC.NET ). This common nomenclature (IPCCC), and the common minimum database data set created by the International Congenital Heart Surgery Nomenclature and Database Project, are now utilized by both EACTS and STS; since 1998, this nomenclature and database have been used by both the STS

  15. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  16. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  17. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  18. Cleft palate caused by congenital teratoma.

    PubMed

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  19. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

  20. Maintenance of Northern Summer Stationary Waves in a GCM.

    NASA Astrophysics Data System (ADS)

    Ting, Mingfang

    1994-11-01

    The maintenance of northern summer stationary waves is studied with data from a 15-year integration of the general circulation model (GCM) experiment performed at the Geophysical Fluid Dynamics Laboratory. The model has relatively high resolution (rhomboidal 30 wavenumbers, 9 vertical levels) and simulates the summertime stationary waves reasonably well.A steady, linear, baroclinic model is used to understand the various forcing mechanisms for the northern summer stationary waves. The linear model response to global diabatic heating is found to play a dominant role in maintaining the summertime stationary waves in the GCM, especially in the subtropics. This response to diabatic heating shows a baroclinic structure in the vertical with a node at about = 0.5. On the other hand, stationary nonlinear interaction terms are found to be largely responsible for the extratropical, equivalent barotropic stationary wave features. It is hypothesized that this nonlinear interaction is a result of the thermally induced stationary waves interacting with the local orography. The direct linear response to orography is found to be rather insignificant, however. Transient vorticity and heat fluxes also tend to play a negligible role in explaining the summer stationary wave patterns.Further decomposition of the linear model response to global diabatic heating indicates that the response to the Indian monsoon and the western Pacific heat source is of primary importance in determining the global stationary wave pattern. This large heat source not only determines the stationary flow features locally, but also remotely controls the flow structure over the whole Pacific, North America, and the Atlantic region. Thus, variabilities in the Indian monsoon and the western Pacific heating may exert a strong influence on the global climate variability.

  1. Nuclear and cell division in Bacillus subtilis: dormant nucleoids in stationary-phase cells and their activation.

    PubMed Central

    Van Iterson, W; Michels, P A; Vyth-Dreese, F; Aten, J A

    1975-01-01

    The morphology of nucleoids and mesosomes of Bacillus subtilis in stationary-and lag-phase cultures was studied by making three-dimensional cell reconstructions in plastic of electron micrographs of serial sections. In cells from stationary cultures, the dormant nucleoids are frequently, but not always, spherical and the mesosomes are small and compact. It is suggested that the spherical nucleoids represent the resting stage in which replication and segregation have been completed. In cells from lag-phase cultures, the compact mesosomes develop into an elaborate system of tubes and wider sacs which become wrapped around the elongating nucleoids and invade the nucleoplasm in preparation for division. Images PMID:803960

  2. Complete Androgen Insensitivity Syndrome in Three Sisters

    PubMed Central

    Verim, Levent

    2014-01-01

    Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS. PMID:24520507

  3. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    PubMed

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  4. Managing heterogeneous networks of mobile and stationary sensors

    NASA Astrophysics Data System (ADS)

    Bürkle, Axel; Solbrig, Peter; Segor, Florian; Bulatov, Dimitri; Wernerus, Peter; Müller, Sven

    2011-11-01

    Protecting critical infrastructure against intrusion, sabotage or vandalism is a task that requires a comprehensive situation picture. Modern security systems should provide a total solution including sensors, software, hardware, and a "control unit" to ensure complete security. Incorporating unmanned mobile sensors can significantly help to close information gaps and gain an ad hoc picture of areas where no pre-installed supervision infrastructure is available or damaged after an incident. Fraunhofer IOSB has developed the generic ground control station AMFIS which is capable of managing sensor data acquisition with all kinds of unattended stationary sensors, mobile ad hoc sensor networks, and mobile sensor platforms. The system is highly mobile and able to control various mobile platforms such as small UAVs (Unmanned Aerial Vehicles) and UGVs (Unmanned Ground Vehicles). In order to establish a real-time situation picture, also an image exploitation process is used. In this process, video frames from different sources (mainly from small UAVs) are georeferenced by means of a system of image registration methods. Relevant information can be obtained by a motion detection module. Thus, the image exploitation process can accelerate the situation assessment significantly.

  5. Radiator Study for Stationary Lunar Landers

    NASA Technical Reports Server (NTRS)

    OConnor, Brian; Abel, Elisabeth

    2010-01-01

    This paper provides an overview of a study to identify, select and evaluate potential heat rejection radiators for application to small, low power, stationary lunar landers. While this study supported risk mitigation activities related to the International Lunar Network project, the radiator concepts and performance assessments are applicable to a wide range of lunar lander applications. The radiator concepts identified and evaluated in this study were aimed at providing reliable heat rejection for landers that might be subjected to hot lunar noon conditions at the equator. As a part of the study, a literature search of lunar radiators was performed from which many radiator designs were developed. These designs were compared in a trade study and two of the most promising were used to develop six concepts. These six radiator concepts went through a more detailed thermal analysis using Thermal Desktop. The analysis considered heat rejection capability, and sensitivity to many factors such as dust deposition, latitude, life, and topographical features like landing on a hill, on a rock, or in a hole/crater. From the result of the analysis, two radiator concepts were selected for recommendation: a flat horizontal plate with a dust cover and a stacked vertical radiator with parabolic reflectors and a one degree tilting mechanism.

  6. Model of non-stationary, inhomogeneous turbulence

    SciTech Connect

    Bragg, Andrew D.; Kurien, Susan; Clark, Timothy T.

    2016-07-08

    Here, we compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1–35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to long times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.

  7. Model of non-stationary, inhomogeneous turbulence

    DOE PAGES

    Bragg, Andrew D.; Kurien, Susan; Clark, Timothy T.

    2016-07-08

    Here, we compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1–35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to longmore » times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.« less

  8. Kinesin Recycling in Stationary Membrane Tubes

    PubMed Central

    Shaklee, Paige M.; Idema, Timon; Bourel-Bonnet, Line; Dogterom, Marileen; Schmidt, Thomas

    2010-01-01

    Collections of motors dynamically organize to extract membrane tubes. These tubes grow but often pause or change direction as they traverse an underlying microtubule (MT) network. In vitro, membrane tubes also stall: they stop growing in length despite a large group of motors available at the tip to pull them forward. In these stationary membrane tubes in vitro, we find that clusters of processive kinesin motors form and reach the tip of the tube at regular time intervals. The average times between cluster arrivals depends on the time over which motors depart from the tip, suggesting that motors are recycled toward the tip. Numerical simulations of the motor dynamics in the membrane tube and on the MTs show that the presence of cooperative binding between motors quantitatively accounts for the clustering observed experimentally. Cooperative binding along the length of the MT and a nucleation point at a distance behind the tip define the recycling period. Based on comparison of the numerical results and experimental data, we estimate a cooperative binding probability and concentration regime where the recycling phenomenon occurs. PMID:20858428

  9. Model of non-stationary, inhomogeneous turbulence

    NASA Astrophysics Data System (ADS)

    Bragg, Andrew D.; Kurien, Susan; Clark, Timothy T.

    2017-02-01

    We compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1-35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to long times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.

  10. Stationary orbits of satellites of disk galaxies

    NASA Technical Reports Server (NTRS)

    Polyachenko, Valerij L.

    1990-01-01

    The satellite of an S-galaxy will experience opposing dynamical-friction forces from the stars of the disk and the halo. If these forces are in balance, the satellite may travel in a stable, near-circular orbit whose radius, for a wide range of physical parameters, should be limited to a zone 1.2 to 1.4 times the disk radius, much as is observed. The idea is very simple. The dynamical friction acting on a small satellite, moving through a stellar galactic halo, makes this satellite slow down. On the other hand, a stellar disk, rotating faster than a satellite, makes it speed up. But the density distributions in radius for disk's and halo's stars in real flat galaxies are quite different (respectively, exponential and power-law). Moreover, the observational data show that the exponential profile for disk's surface density drops abruptly at some radius (r sub d). So it is natural to expect that a stationary orbit could be near the edge of a disk (where two effects are mutually compensated).

  11. Stationary intraoral tomosynthesis for dental imaging

    NASA Astrophysics Data System (ADS)

    Inscoe, Christina R.; Wu, Gongting; Soulioti, Danai E.; Platin, Enrique; Mol, Andre; Gaalaas, Laurence R.; Anderson, Michael R.; Tucker, Andrew W.; Boyce, Sarah; Shan, Jing; Gonzales, Brian; Lu, Jianping; Zhou, Otto

    2017-03-01

    Despite recent advances in dental radiography, the diagnostic accuracies for some of the most common dental diseases have not improved significantly, and in some cases remain low. Intraoral x-ray is the most commonly used x-ray diagnostic tool in dental clinics. It however suffers from the typical limitations of a 2D imaging modality including structure overlap. Cone-beam computed tomography (CBCT) uses high radiation dose and suffers from image artifacts and relatively low resolution. The purpose of this study is to investigate the feasibility of developing a stationary intraoral tomosynthesis (s-IOT) using spatially distributed carbon nanotube (CNT) x-ray array technology, and to evaluate its diagnostic accuracy compared to conventional 2D intraoral x-ray. A bench-top s-IOT device was constructed using a linear CNT based X-ray source array and a digital intraoral detector. Image reconstruction was performed using an iterative reconstruction algorithm. Studies were performed to optimize the imaging configuration. For evaluation of s-IOT's diagnostic accuracy, images of a dental quality assurance phantom, and extracted human tooth specimens were acquired. Results show s-IOT increases the diagnostic sensitivity for caries compared to intraoral x-ray at a comparable dose level.

  12. Model of non-stationary, inhomogeneous turbulence

    SciTech Connect

    Bragg, Andrew D.; Kurien, Susan; Clark, Timothy T.

    2016-07-08

    Here, we compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1–35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to long times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.

  13. The transformed-stationary approach: a generic and simplified methodology for non-stationary extreme value analysis

    NASA Astrophysics Data System (ADS)

    Mentaschi, Lorenzo; Vousdoukas, Michalis; Voukouvalas, Evangelos; Sartini, Ludovica; Feyen, Luc; Besio, Giovanni; Alfieri, Lorenzo

    2016-09-01

    Statistical approaches to study extreme events require, by definition, long time series of data. In many scientific disciplines, these series are often subject to variations at different temporal scales that affect the frequency and intensity of their extremes. Therefore, the assumption of stationarity is violated and alternative methods to conventional stationary extreme value analysis (EVA) must be adopted. Using the example of environmental variables subject to climate change, in this study we introduce the transformed-stationary (TS) methodology for non-stationary EVA. This approach consists of (i) transforming a non-stationary time series into a stationary one, to which the stationary EVA theory can be applied, and (ii) reverse transforming the result into a non-stationary extreme value distribution. As a transformation, we propose and discuss a simple time-varying normalization of the signal and show that it enables a comprehensive formulation of non-stationary generalized extreme value (GEV) and generalized Pareto distribution (GPD) models with a constant shape parameter. A validation of the methodology is carried out on time series of significant wave height, residual water level, and river discharge, which show varying degrees of long-term and seasonal variability. The results from the proposed approach are comparable with the results from (a) a stationary EVA on quasi-stationary slices of non-stationary series and (b) the established method for non-stationary EVA. However, the proposed technique comes with advantages in both cases. For example, in contrast to (a), the proposed technique uses the whole time horizon of the series for the estimation of the extremes, allowing for a more accurate estimation of large return levels. Furthermore, with respect to (b), it decouples the detection of non-stationary patterns from the fitting of the extreme value distribution. As a result, the steps of the analysis are simplified and intermediate diagnostics are

  14. An Algebraic Construction of the First Integrals of the Stationary KdV Hierarchy

    NASA Astrophysics Data System (ADS)

    Matsushima, Masatomo; Ohmiya, Mayumi

    2009-09-01

    The stationary KdV hierarchy is constructed using a kind of recursion operator called Λ-operator. The notion of the maximal solution of the n-th stationary KdV equation is introduced. Using this maximal solution, a specific differential polynomial with the auxiliary spectral parameter called the spectral M-function is constructed as the quadratic form of the fundamental system of the eigenvalue problem for the 2-nd order linear ordinary differential equation which is related to the linearizing operator of the hierarchy. By calculating a perfect square condition of the quadratic form by an elementary algebraic method, the complete set of first integrals of this hierarchy is constructed.

  15. Rapid On-Line Control to Reaching Is Preserved in Children With Congenital Spastic Hemiplegia: Evidence From Double-Step Reaching Performance.

    PubMed

    Hyde, Christian; Fuelscher, Ian; Enticott, Peter G; Reid, Susan M; Williams, Jacqueline

    2015-08-01

    This study aimed to investigate the integrity of on-line control of reaching in congenital spastic hemiplegia in light of disparate evidence. Twelve children with and without spastic hemiplegia (11-17 years old) completed a double-step reaching task requiring them to reach and touch a target that remained stationary for most trials (viz nonjump trial) but unexpectedly displaced laterally at movement onset for a minority of trials (20%: known as jump trials). Although children with spastic hemiplegia were generally slower than age-matched controls, they could account for target perturbation at age-appropriate levels shown by a lack of interaction effect on movement time and nonsignificant group difference for time to reach trajectory correction on jump trials. Our data suggest that at a group level, on-line control of reaching may be age-appropriate in spastic hemiplegia. However, our data also highlight the need to experimentally acknowledge the considerable heterogeneity of the spastic hemiplegia population when investigating motor cognition. © The Author(s) 2014.

  16. [Comparative study of the replication difference of HearNPV in infected exponential and stationary host cells].

    PubMed

    Dai, Wen-Tao; Han, Xiao; Wang, Hua-Lin; Hu, Zhi-Hong; Deng, Fei

    2007-09-01

    Real-time quantitative PCR was used to characterize HearNPV DNA replication in exponential and stationary phases of HzAM1 cells. Results showed that the doubling time of HzAM1 cells was 22 h in exponential phases. Most of the exponential cells were in S phase (48.6%), and most of the stationary cells in G2/M phase (72.6%). The replication of viral DNA was completed within 60 h post infection (h p. i.) in different phases of HzAM1 cells. During 14 to 20 h p. i., the doubling time of HearNPV replica-tion was 1.8 h in exponential cells and 1.9 h in stationary cells, and no significant difference was found between them. But the amounts of BV entering and releasing, the final progeny virions and viral protein products in the infected exponential phase cells were obviously higher than that in the stationary phase cells. 25% of the total synthesized viral DNAs were released from infected exponential phase cells, but on-ly 13% from the infected stationary phase cells. Viral DNA started to be replicated from 7-8 h p. i. both in infected exponential phase and in stationary phase cells. But in infected exponential phase cells, BVs were started to release from 18-20 h p. i., and BVs were started to release from 22-25 h p. i. from infected sta-tionary phase cells. During 30-60 h p. i., the BV releasing rate was about 483 copies/cell/h in the expo-nential phase cells, but was 100 copies/cell/h in the stationary-phase cells. The initial viral DNA entering into exponential phase cells was much more than that entered into the stationary phase cells. The data of cell membrane fluidity at exponential and stationary phases suggested that the fluidity of cell membrane played an important role during virus entry.

  17. Intraocular cytokines imbalance in congenital cataract and its impact on posterior capsule opacification.

    PubMed

    Sauer, Arnaud; Bourcier, Tristan; Gaucher, David; Candolfi, Ermanno; Speeg-Schatz, Claude

    2016-05-01

    Congenital cataract is of particular interest because of the variability of etiologies and the inflammatory reaction that are often observed. The aim of the study was to describe intraocular levels of various inflammation-related cytokines of patients with congenital cataract and to study their correlations with clinical determinants. We followed a cohort of 18 patients (18 eyes) with congenital cataract from a University hospital and measured levels of various inflammation-related cytokines in the aqueous humor of patients with congenital cataract, and compared these levels to those observed in a control group (patients with senile cataract) using multiplex immunoassay. Correlation analysis was used to study the possible correlation between intraocular levels of cytokines and clinical determinants. Compared with the control group, the group with congenital cataract showed clear and significantly elevated concentrations of inflammatory markers (IL-1β, IL-15, IFN-γ, IL-12, IL-6, IL-5, IL-9, MIP-1α, MCP-1 and IP-10). Postoperative intraocular inflammation and opacification of the posterior capsule seemed to be correlated with preoperative IL-1β, TNF-α and IL-6 levels. An inflammatory condition may occur in eyes with congenital cataract. The cytokine profiles are really different than those observed in senile cataract. Moreover, cytokines levels may be of interest to predict posterior capsule opacification and to complete the etiological workup.

  18. Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study

    PubMed Central

    Santos, Cleusa C.; Feitosa, Fabiana G.; Ribeiro, Maria C.; Menge, Paulo; Lira, Izabelle M.

    2017-01-01

    Objective To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. Methods An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15) examination was performed on all infants. Results 14/103 (13.5%) echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus. Conclusions Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant. PMID:28426680

  19. Ultrasound findings in fetal congenital heart block associated with maternal anti-Ro/SSA and Anti-La/SSB antibodies.

    PubMed

    Lai, Jasmine; Clark, Toshi J; Tan, Justin H; Delaney, Shani; Jolley, Jennifer A

    2015-03-01

    We present the sonographic features of a second-trimester fetus diagnosed with a bradyarrhythmia at 19 weeks' gestation. The mother carried a diagnosis of Sjögren syndrome, including the presence of SSA and SSB antibodies. Ultrasound M-mode and fetal echocardiogram revealed the etiology of the bradycardia to be a complete fetal congenital heart block, likely due to transplacental passage of autoimmune anti-Ro/SSA and anti-La/SSB antibodies. Consequential to the congenital heart block, the fetus developed hydrops fetalis at 21 weeks' gestational age. We discuss the 2 major etiologies of congenital heart block and the implications in subsequent pregnancies.

  20. Treatment of steroid-resistant post-transplant nephrotic syndrome with cyclophosphamide in a child with congenital nephrotic syndrome.

    PubMed

    Flynn, J T; Schulman, S L; deChadarevian, J P; Dunn, S P; Kaiser, B A; Polinsky, M S; Baluarte, H J

    1992-11-01

    A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.