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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. Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.

    PubMed

    Qian, Haohua; Ji, Rui; Gregg, Ronald G; Peachey, Neal S

    2015-01-01

    Electroretinogram (ERG) studies identified a new mouse line with a normal a-wave but lacking the b-wave component. The ERG phenotype of this new allele, nob7, matched closely that of mouse mutants for Grm6, Lrit3, Trpm1, and Nyx, which encode for proteins expressed in depolarizing bipolar cells (DBCs). To identify the underlying mutation, we first crossed nob7 mice with Grm6 nob3 mutants and measured the ERGs in offspring. All the offspring lacked the b-wave, indicating that nob7 is a new allele for Grm6: Grm6 nob7 . Sequence analyses of Grm6 nob7 cDNAs identified a 28 base pair insertion between exons 8 and 9, which would result in a frameshift mutation in the open reading frame that encodes the metabotropic glutamate receptor 6 (Grm6). Sequencing both the cDNA and genomic DNA from exon 8 and intron 8, respectively, from the Grm6 nob7 mouse revealed a G to A transition at the last position in exon 8. This mutation disrupts splicing and the normal exon 8 is extended by 28 base pairs, because splicing occurs 28 base pairs downstream at a cryptic splice donor. Consistent with the impact of the resulting frameshift mutation, there is a loss of mGluR6 protein (encoded by Grm6) from the dendritic tips of DBCs in the Grm6 nob7 retina. These results indicate that Grm6 nob7 is a new model of the complete form of congenital stationary night blindness, a human condition that has been linked to mutations of GRM6. PMID:26241901

  3. 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

  4. Congenital complete atrioventricular block.

    PubMed Central

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined. Images PMID:9456483

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

    MedlinePlus

    ... stationary night blindness autosomal dominant congenital stationary night blindness Enable Javascript to view the expand/collapse boxes. ... Close All Description Autosomal dominant congenital stationary night blindness is a disorder of the retina , which is ...

  6. 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. PMID:26310623

  7. 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

  8. Photoreceptor and Postreceptor Responses in Congenital Stationary Night Blindness

    PubMed Central

    Raghuram, Aparna; Hansen, Ronald M.; Moskowitz, Anne; Fulton, Anne B.

    2013-01-01

    Purpose. To investigate photoreceptor and postreceptor retinal function in patients with congenital stationary night blindness (CSNB). Methods. Forty-one patients with CSNB (ages 0.19–32 years) were studied. ERG responses to a series of full-field stimuli were obtained under scotopic and photopic conditions and were used to categorize the CSNB patients as complete (cCSNB) or incomplete (iCSNB). Rod and cone photoreceptor (RROD, SROD, RCONE, SCONE) and rod-driven postreceptor (VMAX, log σ) response parameters were calculated from the a- and b-waves. Cone-driven responses to 30 Hz flicker and ON and OFF responses to a long duration (150 ms) flash were also obtained. Dark-adapted thresholds were measured. Analysis of variance was used to compare data from patients with cCSNB, patients with iCSNB, and controls. Results. We found significant reduction in saturated photoreceptor amplitude (RROD, RCONE) but normal photoreceptor sensitivity (SROD, SCONE) in both CSNB groups. Rod-driven postreceptor response amplitude (VMAX) and sensitivity (log σ) were significantly reduced in CSNB. Log σ was significantly worse in cCSNB than in iCSNB; this was the only scotopic parameter that differed between the two CSNB groups. Photopic b-wave amplitude increased monotonically with stimulus strength in CSNB patients rather than showing a normal photopic hill. The amplitude of the 30-Hz flicker response was reduced compared with controls, more so in iCSNB than in cCSNB. The mean dark-adapted threshold was significantly elevated in CSNB, more so in cCSNB than in iCSNB. Conclusions. These results are evidence of normal photoreceptor function (despite the low saturated photoresponse amplitude) and anomalous postreceptor retinal circuitry. PMID:23761088

  9. Complete congenital heart block in autoimmune hepatitis (SLA-positive).

    PubMed

    Knolle, P; Mayet, W; Lohse, A W; Treichel, U; Meyer zum Büschenfelde, K H; Gerken, G

    1994-08-01

    Complete congenital heart block is a serious complication of neonatal lupus erythematosus which most often occurs in children of mothers suffering from connective tissue disease. We report the occurrence of complete congenital heart block associated with autoimmune hepatitis (SLA-positive). A 32-year-old woman was treated for more than 10 years for autoimmune hepatitis (SLA-/ANA-positive) and remained in clinical remission under immunosuppressive therapy. She showed an MHC-haplotype typical for autoimmune hepatitis (A1, B8, DR3). After a normal first pregnancy, an emergency caesarean section was performed in the 32nd week of her second pregnancy because of fetal bradycardia. The child died a few hours after delivery of complete congenital AV-block. Retrospective analysis of the maternal serum showed the emergence of SS-A/Ro-antibodies prior to the second pregnancy. The maternal serum antibodies were reactive with the 52 kD SS-A/Ro-antigen, as demonstrated by immunoblot employing recombinant SSA/Ro-antigen. The occurrence of complete congenital heart block has been shown to be associated with the presence of SS-A/Ro antibodies as well as the MHC-haplotype DR3. With respect to this genetic linkage, pregnant patients with autoimmune hepatitis and the MHC-haplotype DR3 should be examined for the presence of SS-A/Ro-antibodies. They should be closely followed during pregnancy to enable early detection of the development of congenital heart block, as prevention by plasmapheresis plus dexamethasone may be possible at an early stage.

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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. PMID:27601873

  15. 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.

  16. 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

  17. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2☆

    PubMed Central

    Burtscher, Verena; Schicker, Klaus; Novikova, Elena; Pöhn, Birgit; Stockner, Thomas; Kugler, Christof; Singh, Anamika; Zeitz, Christina; Lancelot, Marie-Elise; Audo, Isabelle; Leroy, Bart Peter; Freissmuth, Michael; Herzig, Stefan; Matthes, Jan; Koschak, Alexandra

    2014-01-01

    Defective retinal synaptic transmission in patients affected with congenital stationary night blindness type 2 (CSNB2) can result from different dysfunction phenotypes in Cav1.4 L-type calcium channels. Here we investigated two prototypical Cav1.4 variants from either end of the functional spectrum. Using whole-cell and single-channel patch-clamp techniques, we provide analysis of the biophysical characteristics of the point mutation L860P and the C-terminal truncating mutation R1827X. L860P showed a typical loss-of-function phenotype attributed to a reduced number of functional channels expressed at the plasma membrane as implied by gating current and non-stationary noise analyses. This phenotype can be rationalized, because the inserted proline is predicted to break an amphipatic helix close to the transmembrane segment IIIS1 and thus to reduce channel stability and promote misfolding. In fact, L860P was subject to an increased turnover. In contrast, R1827X displayed an apparent gain-of-function phenotype, i.e., due to a hyperpolarizing shift of the IV-curve and increased single-channel activity. However, truncation also resulted in the loss of functional C-terminal modulation and thus unmasked calcium-dependent inactivation. Thus R1827X failed to support continuous calcium influx. Current inactivation curtails the dynamic range of photoreceptors (e.g., when adapting to variation in illumination). Taken together, the analysis of two representative mutations that occur in CSNB2 patients revealed fundamental differences in the underlying defect. These may explain subtle variations in the clinical manifestation and must be taken into account, if channel function is to be restored by pharmacochaperones or related approaches. PMID:24796500

  18. 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

  19. Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.

    PubMed

    Jacobi, F K; Broghammer, M; Pesch, K; Zrenner, E; Berger, W; Meindl, A; Pusch, C M

    2000-07-01

    X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by impaired night vision, variably involving high myopia, nystagmus, decreased visual acuity, and strabismus. Linkage studies have identified two distinct loci for X-linked CSNB1 and CSNB2 on the short arm of chromosome X. The gene mutated in families displaying the "incomplete phenotype" of CSNB (i.e., CSNB2) has recently been identified. To identify novel candidate genes for the "complete form" of CSNB (i.e., CSNB1) we screened the physically vast region Xp11.3-Xp11.4 for cDNA sequences. This led us to identify and map the G protein coupled receptor (GPCR) gene GPR34 to Xp11.4 within 650 kb of the marker DXS993. Deletion screening via Southern blotting and direct sequencing of GPR34 revealed no mutations in 19 unrelated men with CSNB1, excluding a causal role in the disease. However, because of its expression in retinal and neural tissue and the involvement of GPCRs in transmembrane signal transduction, GPR34 remains a putative candidate gene for a number of ocular diseases which also map to the Xp11.4 region. PMID:10982042

  20. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

    PubMed

    Neuillé, M; Malaichamy, S; Vadalà, M; Michiels, C; Condroyer, C; Sachidanandam, R; Srilekha, S; Arokiasamy, T; Letexier, M; Démontant, V; Sahel, J-A; Sen, P; Audo, I; Soumittra, N; Zeitz, C

    2016-06-01

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert-Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SLC24A1. Indeed, re-investigation of the clinical data corrected the diagnosis to Riggs-form of CSNB. Targeted next-generation sequencing (NGS) identified compound heterozygous deletions and a homozygous missense variant in SLC24A1 in two other patients, respectively. ERG abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert-Bornschein-type of CSNB. This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. In case of unclear clinical characteristics, NGS techniques are helpful to clarify the diagnosis.

  1. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.

    PubMed

    Neuillé, M; Malaichamy, S; Vadalà, M; Michiels, C; Condroyer, C; Sachidanandam, R; Srilekha, S; Arokiasamy, T; Letexier, M; Démontant, V; Sahel, J-A; Sen, P; Audo, I; Soumittra, N; Zeitz, C

    2016-06-01

    Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or signal transmission defect from photoreceptors to adjacent bipolar cells. Patients displaying photoreceptor dysfunction show a Riggs-electroretinogram (ERG) while patients with a signal transmission defect show a Schubert-Bornschein ERG. The latter group is subdivided into complete or incomplete (ic) CSNB. Only few CSNB cases with Riggs-ERG and only one family with a disease-causing variant in SLC24A1 have been reported. Whole-exome sequencing (WES) in a previously diagnosed icCSNB patient identified a homozygous nonsense variant in SLC24A1. Indeed, re-investigation of the clinical data corrected the diagnosis to Riggs-form of CSNB. Targeted next-generation sequencing (NGS) identified compound heterozygous deletions and a homozygous missense variant in SLC24A1 in two other patients, respectively. ERG abnormalities varied in these three cases but all patients had normal visual acuity, no myopia or nystagmus, unlike in Schubert-Bornschein-type of CSNB. This confirms that SLC24A1 defects lead to CSNB and outlines phenotype/genotype correlations in CSNB subtypes. In case of unclear clinical characteristics, NGS techniques are helpful to clarify the diagnosis. PMID:26822852

  2. 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. PMID:25307992

  3. A Mutation in SLC24A1 Implicated in Autosomal-Recessive Congenital Stationary Night Blindness

    PubMed Central

    Riazuddin, S. Amer; Shahzadi, Amber; Zeitz, Christina; Ahmed, Zubair M.; Ayyagari, Radha; Chavali, Venkata R.M.; Ponferrada, Virgilio G.; Audo, Isabelle; Michiels, Christelle; Lancelot, Marie-Elise; Nasir, Idrees A.; Zafar, Ahmad U.; Khan, Shaheen N.; Husnain, Tayyab; Jiao, Xiaodong; MacDonald, Ian M.; Riazuddin, Sheikh; Sieving, Paul A.; Katsanis, Nicholas; Hejtmancik, J. Fielding

    2010-01-01

    Congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder that can be associated with impaired night vision. The last decade has witnessed huge progress in ophthalmic genetics, including the identification of three genes implicated in the pathogenicity of autosomal-recessive CSNB. However, not all patients studied could be associated with mutations in these genes and thus other genes certainly underlie this disorder. Here, we report a large multigeneration family with five affected individuals manifesting symptoms of night blindness. A genome-wide scan localized the disease interval to chromosome 15q, and recombination events in affected individuals refined the critical interval to a 10.41 cM (6.53 Mb) region that harbors SLC24A1, a member of the solute carrier protein superfamily. Sequencing of all the coding exons identified a 2 bp deletion in exon 2: c.1613_1614del, which is predicted to result in a frame shift that leads to premature termination of SLC24A1 (p.F538CfsX23) and segregates with the disorder under an autosomal-recessive model. Expression analysis using mouse ocular tissues shows that Slc24a1 is expressed in the retina around postnatal day 7. In situ and immunohistological studies localized both SLC24A1 and Slc24a1 to the inner segment, outer and inner nuclear layers, and ganglion cells of the retina, respectively. Our data expand the genetic basis of CSNB and highlight the indispensible function of SLC24A1 in retinal function and/or maintenance in humans. PMID:20850105

  4. 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

    2016-05-01

    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

  5. Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

    PubMed

    Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

    2016-02-01

    Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.

  6. Remission of congenital complete heart block without anti-Ro/La antibodies: A case report.

    PubMed

    Mitra, Souvik; Saha, Anindya Kumar; Sardar, Syamal Kumar; Singh, Arun Kumarendu

    2013-07-01

    Anti-Ro/La negative congenital heart block (CHB) is uncommon. We report one such case of CHB, with no associated structural heart disease or maternal autoantibodies. The heart block reverted to sinus rhythm spontaneously at two weeks of age, and the patient remains in sinus rhythm at a one year followup. Whether patients with antibody negative complete heart block have a different clinical course is conjectural.

  7. Evidence for a Retroviral Insertion in TRPM1 as the Cause of Congenital Stationary Night Blindness and Leopard Complex Spotting in the Horse

    PubMed Central

    Bellone, Rebecca R.; Holl, Heather; Setaluri, Vijayasaradhi; Devi, Sulochana; Maddodi, Nityanand; Archer, Sheila; Sandmeyer, Lynne; Ludwig, Arne; Foerster, Daniel; Pruvost, Melanie; Reissmann, Monika; Bortfeldt, Ralf; Adelson, David L.; Lim, Sim Lin; Nelson, Janelle; Haase, Bianca; Engensteiner, Martina; Leeb, Tosso; Forsyth, George; Mienaltowski, Michael J.; Mahadevan, Padmanabhan; Hofreiter, Michael; Paijmans, Johanna L. A.; Gonzalez-Fortes, Gloria; Grahn, Bruce; Brooks, Samantha A.

    2013-01-01

    Leopard complex spotting is a group of white spotting patterns in horses caused by an incompletely dominant gene (LP) where homozygotes (LP/LP) are also affected with congenital stationary night blindness. Previous studies implicated Transient Receptor Potential Cation Channel, Subfamily M, Member 1 (TRPM1) as the best candidate gene for both CSNB and LP. RNA-Seq data pinpointed a 1378 bp insertion in intron 1 of TRPM1 as the potential cause. This insertion, a long terminal repeat (LTR) of an endogenous retrovirus, was completely associated with LP, testing 511 horses (χ2=1022.00, p<<0.0005), and CSNB, testing 43 horses (χ2=43, p<<0.0005). The LTR was shown to disrupt TRPM1 transcription by premature poly-adenylation. Furthermore, while deleterious transposable element insertions should be quickly selected against the identification of this insertion in three ancient DNA samples suggests it has been maintained in the horse gene pool for at least 17,000 years. This study represents the first description of an LTR insertion being associated with both a pigmentation phenotype and an eye disorder. PMID:24167615

  8. 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.

  9. 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. PMID:27071550

  10. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.

    PubMed

    An, Jing; Wang, Li; Guo, Qun; Li, Li; Xia, Feng; Zhang, Zuoming

    2012-09-01

    Cacna1f gene mutation could lead to incomplete congenital stationary night blindness (iCSNB) disease. The CSNB-like phenotype rat is a spontaneous rat model caused by Cacna1f gene mutation. The present study explored the phenotypic properties of behavior performance in CSNB rats further. The vision-related behaviors of CSNB rats were assessed with a Morris water maze (MWM), passive avoidance tests, and open-field test. Motor ability was evaluated with a rotarod test and a wire hang test, and mechanical pain and thermalgia were used to evaluate sensory system function. Electroretinograms (ERGs) were recorded to evaluate the function of the retina. The vision-related results showed that longer latencies of escape and reduced probe trial in MWM for CSNB rats. There were more errors in avoidance test; CSNB rats were more active in the open field and presented a different pattern of exploration. The locomotor-related behaviors showed shorter falling latencies in the rotarod test and shorter gripping time in CSNB rats. And mechanical thresholds of pain increased in CSNB rats. The ERGs indicated that both the amplitude and latency of rod and cone systems were impaired in the CSNB rats. In summary, Cacna1f gene mutation changed the performance of various behaviors in the CSNB rat aside from vision-related phenotype. Cacna1f gene might play a role in a wide range of responses in the organism. These results confirm the importance of a comprehensive profile for understanding the behavior phenotype of Cacna1f gene mutation in CSNB rat. PMID:22800190

  11. Long-term results of complete and partial ligation of congenital portosystemic shunts in dogs.

    PubMed

    Hottinger, H A; Walshaw, R; Hauptman, J G

    1995-01-01

    The medical records of 65 dogs that underwent complete or partial ligation of a single congenital portosystemic shunt (CPSS) were reviewed to determine the long-term clinical clinical results. Information retrieved from the records included age at surgery, preligation (baseline) portal pressure, postligation portal pressure, change in portal pressure from baseline, complete or partial occlusion of the shunting vessel and fasting, and 2-hour postprandial bile acids from the preoperative, early postoperative (PO), and greater than 1 year PO time periods. A clinical rating score derived from a follow-up examination greater than 1 year PO was assigned to each dog. Of the 56 dogs that survived the perioperative period, 29 (52%) had complete and 27 (48%) had partial ligations. Age at surgery, pre- and postligation portal pressure, change in portal pressure from baseline and serum bile acid concentrations were not related to long-term clinical outcome. Clinical rating scores were significantly greater for dogs with partial CPSS ligations compared with dogs with complete ligations, indicating a less favorable clinical outcome for partial ligations. Fasting and 2-hour postprandial bile acid values at both PO time intervals were significantly greater in partial versus complete ligation groups. Follow-up information for more than 1 year was available on 18 of 29 dogs (62%) with complete ligations. All were clinically normal. Of 27 dogs with partial ligations, 11 dogs (41%) developed recurrence of clinical signs resulting in presentation to the university or referring veterinarian for additional surgery, medical management, or euthanasia. Only three dogs with partial CPSS ligation (11%) were clinically normal.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:7571385

  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. 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.

  14. Long-term perspectives for 46,XY patients affected by complete androgen insensitivity syndrome or congenital micropenis.

    PubMed

    Wisniewski, Amy B; Migeon, Claude J

    2002-08-01

    Controversy concerning optimal treatment for individuals affected by syndromes of abnormal sex differentiation can best be resolved with knowledge about long-term medical, surgical, and psychosexual outcomes of patients. Follow-up information has recently been gathered on older cohorts of the following patient groups: (1) those affected by complete androgen insensitivity syndrome (CAIS) raised female and (2) those affected by congenital micropenis raised male or female. As a group, women with CAIS were satisfied with their female gender and sexual function. However, a need for better patient education was identified for this specific population. Most patients with congenital micropenis, whether raised male or female, were satisfied with their gender. Regardless of sex of rearing, dissatisfaction with the appearance and function of the genitalia as judged by both physicians and subjects was evident. For patients with congenital micropenis, male sex of rearing was concluded to be optimal because genital reconstructive surgery is not required with this choice.

  15. Congenital complete heart block in the newborn associated with maternal systemic lupus erythematosus and other connective tissue disorders.

    PubMed Central

    Hardy, J D; Solomon, S; Banwell, G S; Beach, R; Wright, V; Howard, F M

    1979-01-01

    Four babies with complete heart block associated with maternal systemic lupus erythematosus (SLE) are described, together with a 5th baby whose mother had serological abnormalities only. One baby had a rapidly fatal outcome, one has required digoxin for heart failure, and the remaining 3 are asymptomatic but remain in complete heart block. Additional manifestations were present in 2 of them. The spectrum of neonatal abnormalities that may occur in association with maternal SLE and related connective tissue disorders is discussed, together with the possible causes and the prognosis. We conclude that congenital heart block is more common than had previously been appreciated. Images Figure PMID:420526

  16. 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

  17. A case of severe congenital chronic inflammatory demyelinating polyneuropathy with complete spontaneous remission.

    PubMed

    Majumdar, A; Hartley, L; Manzur, A Y; King, R H M; Orrell, R W; Muntoni, F

    2004-12-01

    Chronic inflammatory demyelinating polyneuropathy (CIPD) is characterised by progressive weakness, hyporeflexia and electrophysiological evidence of demyelination with maximal neurological deficit reached after at least 8 weeks progression. CIPD rarely affects children. We present a neonate with clinical features compatible with congenital CIPD. A term male infant of non-consanguineous parents was referred to us at birth with weakness and contractures affecting his legs, suggesting a prenatal onset of immobility. He also had evidence of bulbar dysfunction with poor suck, recurrent aspiration and requiring nasogastric feeding. He had no antigravity movements in the legs, bilateral wrist drop, distal joint contractures and absent deep tendon reflexes. Electromyography showed neurogenic changes, with nerve conduction velocities markedly reduced, increased distal motor latency and dispersed compound muscle action potentials. Cerebrospinal fluid protein was raised. Sural nerve biopsy demonstrated decreased numbers of myelinated fibres and inflammatory cell infiltrates. Muscle biopsy showed denervation. He only received supportive treatment and by 6 months he had fully recovered, and all electrophysiological parameters had normalised.

  18. Genetics Home Reference: congenital hypothyroidism

    MedlinePlus

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

  19. Relation of maternal anti-Ro/La antibodies to aortic dilation in patients with congenital complete heart block.

    PubMed

    Davey, Debra L; Bratton, Susan L; Bradley, David J; Yetman, Anji T

    2011-08-15

    An association between congenital complete atrioventricular block (cCAVB) and aortic dilation during childhood has recently been reported. We sought to further explore this relation with particular emphasis on the natural history of aortic abnormalities over time. The relation of maternal anti-Ro/La antibody status to the aortic size of children affected with cCAVB was also assessed. The patients were evaluated longitudinally with serial echocardiography. During a 15-year period, 62 patients at our institution were diagnosed with cCAVB, of whom 40% were exposed to maternal autoimmune antibodies and 35% were not. The antibody status in the remaining patients was unknown. The patients underwent 9.3 ± 6.5 echocardiograms during the follow-up period. Dilation of the ascending aorta, defined as a z score >2.0, was present on the initial echocardiogram in all patients exposed to maternal antibodies and persisted during long-term follow-up in 96% of these patients. In contrast, 5% and 10% of patients without exposure to maternal autoimmune antibodies had aortic dilation on the initial and follow-up studies, respectively (p <0.001 and p <0.001, respectively). In conclusion, patients with autoimmune-mediated cCAVB merit periodic echocardiographic monitoring into adulthood to assess persistent or progressive aortic dilation and its attendant complications.

  20. Congenital Hypothyroidism

    MedlinePlus

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  1. 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.

  2. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-03-01

    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. PMID:27607320

  3. Congenital Myopathy

    MedlinePlus

    ... arms and legs, droopy eyelids, and problems with eye movements. Weakness often gets worse with time. Central core ... difficulties occur as well. Some children have weakened eye movements. Congenital fiber-type disproportion myopathy is a rare ...

  4. 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, ...

  5. Congenital rubella

    MedlinePlus

    ... mother is infected with the virus that causes German measles. Congenital means the condition is present at ... Gershon AA. Rubella virus (German measles). In: Mandell GL, Bennett JE, ... of Infectious Diseases . 8th ed. Philadelphia, PA: Elsevier ...

  6. Congenital myopathies.

    PubMed

    Romero, Norma Beatriz; Clarke, Nigel F

    2013-01-01

    Congenital myopathies are a heterogeneous group of inherited muscle disorders, characterized by the predominance of particular histopathological features on muscle biopsy, such as cores (central core disease) or rods (nemaline myopathy). Clinically, early onset of the disease, stable or slowly progressive muscle weakness, hypotonia and delayed motor development are common in most forms. As a result, the diagnosis of a subtype of congenital myopathy is largely based on the presence of specific structural abnormalities in the skeletal muscle detected by enzyme-histochemistry and electron microscopy studies. During the last decades there have been significant advances in the identification of the genetic basis of most congenital myopathies. However, there is significant genetic heterogeneity within the main groups of congenital myopathies, and mutations in one particular gene may also cause diverse clinical and morphological phenotypes. Thus, the nosography and nosology in this field is still evolving. PMID:23622357

  7. 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. PMID:27301600

  8. [Congenital analgesia].

    PubMed

    Accornero, N; Bini, G; Cruccu, G

    1980-01-01

    The case of a 12 years old boy with a congenital anaesthesia covering all cutaneous and visceral districts is reported. There were no other neurological abnormalities apart a light mental retardation and loss of axon reflex after intradermal injection of hystamine. Notwithstanding this last finding a diagnosis of congenital indifference to pain was made. The differential diagnosis between indifference and insensitivity to pain is discussed. PMID:6162189

  9. Congenital Vascular Anomalies.

    PubMed

    Gravereaux, Edwin C.; Nguyen, Louis L.; Cunningham, Leslie D.

    2004-04-01

    Congenital vascular anomalies are rare. The cardiovascular specialist should nevertheless be aware of the more common types of vascular anomalies and understand the implications for patient treatment and the likelihood of associated morbidity. The presentation of congenital arteriovenous malformations can range from asymptomatic or cosmetic lesions, to those causing ischemia, ulceration, hemorrhage, or high-output congestive heart failure. Treatment of large, symptomatic arteriovenous malformations often requires catheter-directed embolization prior to the attempt at complete surgical excision. Later recurrence, due to collateral recruitment, is frequent. Graded compression stockings and leg elevation are the mainstays of treatment for the predominantly venous congenital vascular anomalies. Most congenital central venous disorders are clinically silent. An exception is the retrocaval ureter. Retroaortic left renal vein, circumaortic venous ring, and absent, left-sided or duplicated inferior vena cava are relevant when aortic or inferior vena cava procedures are planned. The treatment of the venous disorders is directed at prevention or management of symptoms. Persistent sciatic artery, popliteal entrapment syndrome, and aberrant right subclavian artery origin are congenital anomalies that are typically symptomatic at presentation. Because they mimic more common diseases, diagnosis is frequently delayed. Delay can result in significant morbidity for the patient. Failure to make the diagnosis of persistent sciatic artery and popliteal entrapment can result in critical limb ischemia and subsequent amputation. Unrecognized aberrant right subclavian artery origin associated with aneurysmal degeneration can rupture and result in death. The treatment options for large-vessel arterial anomalies are surgical, sometimes in combination with endovascular techniques.

  10. [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.

  11. 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…

  12. 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." PMID:25726292

  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. Aerobic Training in Patients with Congenital Myopathy

    PubMed Central

    Hedermann, Gitte; Vissing, Christoffer Rasmus; Heje, Karen; Preisler, Nicolai; Witting, Nanna; Vissing, John

    2016-01-01

    Introduction Congenital myopathies (CM) often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM. Methods Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max). Creatine kinase (CK) was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy. Results Sixteen patients with CM were included in a controlled study. VO2max increased by 14% (range, 6–25%; 95% CI 7–20; p < 0.001) in the seven patients who completed training, and tended to decrease in a non-intervention group (n = 7; change -3.5%; range, -11–3%, p = 0.083). CK levels were normal and remained stable during training. Baseline Fatigue Severity Scale scores were high, 4.9 (SE 1.9), and tended to decrease (to 4.4 (SE 1.7); p = 0.08) with training. Nine patients dropped out of the training program. Fatigue was the major single reason. Conclusions Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training did not cause sarcomeric injury, even though sarcomeric function is affected by the genetic abnormalities in most patients with CM. Severe fatigue, which characterizes patients with CM, is a limiting factor for initiating training in CM, but tends to improve in those who train. Trial Registration The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066 PMID:26751952

  16. Congenital hypoaldosteronism.

    PubMed

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

  17. Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies.

    PubMed

    Tsitouridis, Ioannis; Michaelides, Michael; Tsantiridis, Christos; Spyridi, Styliani; Arvanity, Mary; Efstratiou, Ioannis

    2010-06-01

    Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle during fetal development. Herein we present the radiographic, ultrasound, and magnetic resonance imaging findings of a unique case of congenital cystic eye associated with dermal appendages and advanced intracranial congenital anomalies in a 3-month-old boy.

  18. 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

  19. 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 ...

  20. Congenital Anomalies of the Limbs

    PubMed Central

    Gingras, G.; Mongeau, M.; Moreault, P.; Dupuis, M.; Hebert, B.; Corriveau, C.

    1964-01-01

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). In this paper, Part I, the medical and prosthetic aspects are dealt with and a form of management is described for each type of anomaly. The conclusions are reached that prosthetic fitting and training should be initiated very early in life and that co-operation of the parent is essential to successful habilitation of a child with congenital limb anomalies. ImagesFig. 1Fig. 2Fig. 3Fig. 4Fig. 5Fig. 6Fig. 7 PMID:14154297

  1. Congenital hypothyroidism.

    PubMed

    Rastogi, Maynika V; LaFranchi, Stephen H

    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

  2. Stationary nonlinear Airy beams

    SciTech Connect

    Lotti, A.; Faccio, D.; Couairon, A.; Papazoglou, D. G.; Panagiotopoulos, P.; Tzortzakis, S.; Abdollahpour, D.

    2011-08-15

    We demonstrate the existence of an additional class of stationary accelerating Airy wave forms that exist in the presence of third-order (Kerr) nonlinearity and nonlinear losses. Numerical simulations and experiments, in agreement with the analytical model, highlight how these stationary solutions sustain the nonlinear evolution of Airy beams. The generic nature of the Airy solution allows extension of these results to other settings, and a variety of applications are suggested.

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

    MedlinePlus

    ... blindness, type 2A MedlinePlus Encyclopedia: Electroretinography MedlinePlus Encyclopedia: Eye movements - Uncontrollable MedlinePlus Encyclopedia: Nearsightedness MedlinePlus Encyclopedia: Strabismus MedlinePlus ...

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

    MedlinePlus

    ... Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin ... I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson ...

  5. Congenital hypothyroidism.

    PubMed

    Abduljabbar, Mohammad A; Afifi, Ashraf M

    2012-01-01

    Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency present at birth. Babies with CH who are not identified and treated promptly develop severe mental retardation. Most of the babies with CH do not manifest the typical known signs and symptoms of hypothyroidism, and this is most likely due to transplacental passage of some maternal thyroid hormone in addition to some residual neonatal thyroid function, as might be seen with thyroid hypoplasia, an ectopic gland, or mild dyshormonogenesis. Screening for CH has enabled the virtual eradication of the devastating effects of mental retardation due to sporadic CH in most developed countries of the world. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Permanent CH refers to a persistent deficiency of thyroid hormone that requires life-long treatment. Transient CH refers to a temporary deficiency of thyroid hormone that is discovered at birth but recovers to normal in the first few months or years of life. In the last several decades, there have been exciting advances in our understanding of fetal and neonatal thyroid physiology. In addition, advances in molecular biology have helped in understanding the early events in thyroid gland embryogenesis, mechanisms of thyroid action in the brain, the molecular basis for many of the inborn errors of thyroid hormonogenesis, and thyroid hormone action. However, many questions and challenges are still not answered. For example, the increasing numbers of surviving small and premature neonates with abnormalities in thyroid function need definite diagnostic criteria and whether they require medical therapy. Another challenge is the dilemma of finding the best screening methodology that is sensitive and cost effective. PMID:22570946

  6. 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

  7. Congenital cholesteatoma of external auditory canal.

    PubMed

    Quantin, Laura; Carrera Fernández, Sandra; Moretti, Jorge

    2002-02-01

    A 7-month-old male child is reported with congenital cholesteatoma of the external auditory canal. We describe the clinical features, computed tomography finding and surgical treatment. Congenital cholesteatomas can occur within the temporal bone. There are six places of location: (1) petrous apex, (2) mastoid, (3) middle ear, (4) both middle ear and mastoid, (5) external ear canal and (6) within the squamous portion of the temporal bone. Congenital cholesteatoma of the external auditory canal is rare. Generally, it appears in the canal floor without lesions in the tympanic membrane. Computed tomography completes the study. Treatment consists of excision of the mass.

  8. Congenital Intralabyrinthine Cholesteatoma

    PubMed Central

    Prasad, Sanjay; Prasad, Kiran; Azadarmaki, Roya

    2014-01-01

    A patient with a congenital intralabyrinthine cholesteatoma is presented. High-resolution computerized tomographic scans and intraoperative photomicrographs display features of intralabyrinthine extension. We discuss pathogenetic theories for the development of congenital intralabyrinthine cholesteatoma. The distinction of this condition from congenital cholesteatoma with labyrinthine erosion is discussed. PMID:25057421

  9. 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.

  10. 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.

  11. Pregnancy and adult congenital heart disease.

    PubMed

    Karamermer, Yusuf; Roos-Hesselink, Jolien W

    2007-09-01

    Increasing numbers of women with complex congenital heart disease are reaching childbearing age. Pregnancy is a major issue in the management of adult congenital heart disease. Cardiac disease is one of the most common causes of maternal morbidity and mortality. Complications, such as growth retardation, preterm and premature birth and even fetal and neonatal mortality, are more frequent among children of women with congenital heart disease. The risk of complications is determined by the severity of the cardiac lesion, the presence of cyanosis, the maternal functional class and the use of anticoagulation. However, the pathophysiology of these complications is not completely understood and may be related to a diminished increase in cardiac output and/or endothelial dysfunction. The management of pregnant cardiac patients is based on limited clinical information. This article reviews pre-pregnancy counseling and management during pregnancy in patients with congenital heart disease.

  12. Relaminarization under stationary vortices

    NASA Astrophysics Data System (ADS)

    Breidenthal, Robert

    2005-11-01

    Flow visualization reveals that a turbulent boundary layer is relaminarized when stationary streamwise vortices are introduced. Following a suggestion of Balle, the vortices are stabilized by large streamwise ``Karman'' grooves in a wavy wall. In a water tunnel, upstream vortex generators place a large streamwise vortex in the middle of each groove, at the stationary point where Prandtl's vortex force vanishes. According to a theory by Cotel, the wall fluxes of a turbulent boundary layer should decline to laminar values under such ``persistent'' vortices. The observed relaminarization is consistent with this theory and with previous measurements of heat transfer by Touel and Balle. However, the structure of the transverse flow resembles the cats-eye pattern of a temporal shear layer rather than the anticipated von Karman wake. The cats-eye pattern corresponds to the forced shear layers of Oster-Wygnanski and Roberts, who found that the Reynolds stresses and mixing rate also decline to laminar values.

  13. 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.

  14. Congenital myopathies: an update.

    PubMed

    Nance, Jessica R; Dowling, James J; Gibbs, Elizabeth M; Bönnemann, Carsten G

    2012-04-01

    Congenital myopathy is a clinicopathological concept of characteristic histopathological findings on muscle biopsy in a patient with early-onset weakness. Three main categories are recognized within the classical congenital myopathies: nemaline myopathy, core myopathy, and centronuclear myopathy. Recent evidence of overlapping clinical and histological features between the classical forms and their different genetic entities suggests that there may be shared pathomechanisms between the congenital myopathies. Animal models, especially mouse and zebrafish, have been especially helpful in elucidating such pathomechanisms associated with the congenital myopathies and provide models in which future therapies can be investigated. PMID:22392505

  15. Congenital CMV Infection

    MedlinePlus

    ... CMV Babies Born with CMV (Congenital CMV Infection) Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Detection and Intervention Helping Children With Congenital CMV Language: English Español (Spanish) File Formats Help: How do I ...

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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

  1. 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.

  2. 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.

  3. 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. PMID:26562853

  4. Congenital lobar emphysema

    PubMed Central

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  5. Giant congenital nevus

    MedlinePlus

    ... pigmented nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... baby grows in the womb. In some families bathing trunk nevi may be inherited. The condition may ...

  6. Adult Congenital Heart Association

    MedlinePlus

    ... survivable, manageable, yet in the routine years between infancy and adulthood, sometimes forgettable. The Adult Congenital Heart ... understand the continuum of the disease from its infancy. The Adult Congential Heart Association brings together valuable ...

  7. 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 ...

  8. Congenital platelet function defects

    MedlinePlus

    Platelet storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... disorder may also cause severe bleeding. Platelet storage pool disorder (also called platelet secretion disorder) occurs when ...

  9. Congenital heart disease

    MedlinePlus

    ... about genetic counseling and screening if you have a family history of cogenital heart disease. ... Fraser CD, Carberry KE. Congenital heart disease. In: Townsend CM ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: ...

  10. [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.

  11. 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…

  12. 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)…

  13. 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

  14. 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

  15. 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.

  16. Respiratory distress of the newborn: congenital laryngeal atresia.

    PubMed

    Ambrosio, Art; Magit, Anthony

    2012-11-01

    Congenital laryngeal atresia is a rare cause of respiratory distress of the newborn. The defect may be isolated or occur in association with other congenital abnormalities, notably the presence of a tracheoesophageal fistula, esophageal atresia, encephalocele, or Congenital High Airway Obstructive Syndrome (CHAOS). We present the case of a newborn with no identified intrapartum abnormalities with respiratory distress at birth secondary to near-complete laryngeal atresia. Management included tracheostomy, repeated endoscopic incisions, and serial balloon dilatations employing the topical use of Mitomycin C. Seven year follow-up was significant for mobilization of the true vocal cords bilaterally, as well as successful decannulation.

  17. Radiofrequency coblation of congenital nasopharyngeal teratoma: a novel technique.

    PubMed

    Hwang, Sang Yun; Jefferson, Niall; Mohorikar, Alok; Jacobson, Ian

    2015-01-01

    Introduction. Congenital nasopharyngeal teratomas are rare tumours that pose difficulties in diagnosis and surgical management. We report the first use of radiofrequency coblation in the management of such tumours. Case Report. A premature baby with a perinatal diagnosis of a large, obstructing nasooropharyngeal mass was referred to the ENT service for further investigations and management. The initial biopsy was suggestive of a neuroblastoma, but the tumour demonstrated rapid growth despite appropriate chemotherapy. In a novel use of radiofrequency coblation, the nasooropharyngeal mass was completely excised, with the final histopathology revealing a congenital nasopharyngeal teratoma. Conclusion. We report the first use of radiofrequency coblation to excise a congenital nasopharyngeal teratoma and discuss its advantages.

  18. Adults with Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Web Booklet: Adults With Congenital Heart Defects Updated:Apr ... topic from the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: ...

  19. Congenital Dislocation of the Hip

    PubMed Central

    Specht, Elmer E.

    1976-01-01

    Congenital dislocation or subluxation of the hip (congenital acetabular dysplasia) is a complete or partial displacement of the femoral head out of the acetabulum. The physical signs essential for diagnosis are age related. In newborns the tests for instability are the most sensitive. After the neonatal period, and until the age of walking, tightness of the adductor muscles is the most reliable sign. Early diagnosis is vital for successful treatment of this partially genetically determined condition. Various therapeutic measures, ranging from abduction splinting to open reduction and osteotomy, may be required. Following diagnosis in the first month of life, the average treatment time in one recent series was only 2.3 months from initiation of therapy to attainment of a normal hip. When the diagnosis was not made until 3 to 6 months of age, ten months of treatment was required to achieve the same outcome. When the diagnosis is not made, or the treatment is not begun until after the age of 6, a normal hip will probably not develop in any patient. ImagesFigure 1.Figure 2.Figure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9. PMID:1251603

  20. Stationary Fuel Cell Evaluation (Presentation)

    SciTech Connect

    Kurtz, J.; Wipke, K.; Sprik, S.; Ramsden, T.; Ainscough, C.

    2012-05-01

    This powerpoint presentation discusses its objectives: real world operation data from the field and state-of-the-art lab; collection; analysis for independent technology validation; collaboration with industry and end users operating stationary fuel cell systems and reporting on technology status, progress and technical challenges. The approach and accomplishments are: A quarterly data analysis and publication of first technical stationary fuel cell composite data products (data through June 2012).

  1. Congenital muscular torticollis.

    PubMed

    Nilesh, Kumar; Mukherji, Srijon

    2013-07-01

    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.

  2. 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

  3. 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

  4. Management of Congenital Tracheal Stenosis.

    PubMed

    Hofferberth, Sophie C; Watters, Karen; Rahbar, Reza; Fynn-Thompson, Francis

    2015-09-01

    Congenital tracheal stenosis (CTS) is a serious and rare condition. In most cases, stenotic lesions are composed of complete tracheal rings of cartilage.The severity of symptoms correlates with the length of affected trachea, the presence of concomitant respiratory conditions, degree of luminal narrowing,and any bronchial involvement. Critically, CTS is a disorder that can lead to life-threatening respiratory insufficiency in children. Thus, it is a clinical entity that demands timely diagnosis and treatment. This review will firstly discuss the anatomy and pathophysiology of CTS and outline the various clinical presentations associated with the disorder. In addition, methods of diagnosis and treatment strategies will be reviewed, with a focus on contemporary surgical techniques. Finally, postoperative care of patients with CTS will be reviewed, and a contemporary multidisciplinary management approach will be presented.

  5. The congenital cranial dysinnervation disorders.

    PubMed

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. PMID:25633065

  6. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  7. [Diagnosis of congenital infection].

    PubMed

    Sampedro Martínez, Antonio; Martínez, Luis Aliaga; Teatino, Pablo Mazuelas; Rodríguez-Granger, Javier

    2011-12-01

    In general, congenital diagnosis is based on: a) maternal serologic assays; b) microbiologic study of amniotic fluid or fetal blood sampling; and c) serology in children and microorganism detection by polymerase chain reaction (PCR) or culture. Congenital infections due to cytomegalovirus, herpes simplex, varicella, B19 erythrovirus and toxoplasmosis are usually the result of primary infection in the mother. Therefore, when IgG antibodies are detected before pregnancy, these infections are ruled out. Definitive serologic diagnosis of acute infection in pregnant women requires the demonstration of seroconversion (i.e., from seronegative to seropositive). In these cases, amniotic fluid or fetal blood sampling should be performed to determine the presence of intrauterine congenital infection. Cytomegalovirus, rubella and toxoplasmosis can be diagnosed by detection of specific IgM antibodies in fetal blood. However, PCR in amniotic fluid has replaced conventional prenatal diagnostic techniques, including fetal blood sampling, in the diagnosis of these infections. In the newborn, these infections may be confirmed by measuring IgM specific antibodies. B19 erythrovirus can be detected by PCR in amniotic fluid or fetal blood. Congenital varicella-zoster infection may be diagnosed on the basis of persistence of IgG antibodies after birth. Definitive diagnosis of herpes simplex virus infection requires viral isolation. Swabs or scraping from clinical specimens can be inoculated into susceptible cell lines for isolation. PMID:22305665

  8. Congenital Midline Cervical Cleft

    PubMed Central

    Villanueva-Meyer, Javier; Glastonbury, Christine; Marcovici, Peter

    2015-01-01

    Congenital midline cervical cleft is a rare anomaly that typically presents in the neonatal period as a thin suprasternal vertical band of erythematous skin with a nipple-like projection superiorly, which may exude fluid. We present the clinical and pathophysiologic features and the imaging findings of this uncommon, and rarely described entity in a newborn girl. PMID:25926928

  9. 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 ...

  10. Congenital Heart Information Network

    MedlinePlus

    ... Barmash and Uwe 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

  11. Autism and Congenital Blindness.

    ERIC Educational Resources Information Center

    Hobson, R. Peter; Lee, Anthony; Brown, Rachel

    1999-01-01

    This study compared a group of nine children (ages 3 to 8) with congenital blindness and an autism-like syndrome with nine sighted children. Children with autism had more severe abnormalities in terms of their relationships with people and emotional expressions, and were more impaired in the area of pretend play. (CR)

  12. Multiple congenital coagulation deficiencies.

    PubMed

    BONNIN, J A; HICKS, N D; INNIS, M D; SIMPSON, D A

    1960-07-01

    A 6-week-old infant is presented who suffered from a congenital haemorrhagic disorder which caused death from subdural haemorrhage following mild trauma. Haematological investigation revealed deficiencies of factor VII and Christmas factor. Prower-Stuart factor was probably also deficient although investigation of this clotting factor was carried out only on serum obtained at necropsy.

  13. 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.

  14. Relativistic kinematics and stationary motions

    NASA Astrophysics Data System (ADS)

    Russo, Jorge G.; Townsend, Paul K.

    2009-11-01

    The relativistic jerk, snap and all higher-order kinematical D-vectors are defined for the motion of a massive particle in a D-dimensional Minkowski spacetime. We illustrate the formalism with stationary motions, for which we provide a new, Lorentz covariant, classification. We generalize some cases to branes, explaining the relevance to uniform motion in a heat bath. We also consider some non-stationary motions, including motion with constant proper jerk, and free fall into a black hole as viewed from a GEMS perspective.

  15. 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

  16. Congenital idiopathic clubfoot deformities.

    PubMed

    Kyzer, S P; Stark, S L

    1995-03-01

    Clubfoot is a birth defect that is marked primarily by a deformed talus (ie, ankle) and calcaneous (ie, heel) that give the foot a characteristic "club-like" appearance. In congenital idiopathic clubfoot (ie, talipes equinovarus), the infant's foot points downward (ie, equinus) and turns inward (ie, varus), while the forefoot curls toward the heel (ie, adduction). This congenital disorder has an incidence of 1 in 400 live births, with boys affected twice as often as girls. Unilateral clubfoot is somewhat more common than bilateral clubfoot and may occur as an isolated defect or in association with other disorders (eg, chromosomal aberrations, cerebral palsy, spina bifida, arthrogryposis). Infantile clubfoot deformity is painless and is correctable with early diagnosis and prompt treatment. PMID:7778903

  17. Congenital hemifacial hyperplasia.

    PubMed

    Deshingkar, S A; Barpande, S R; Bhavthankar, J D

    2011-07-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  18. Congenital lipodystrophies and dyslipidemias.

    PubMed

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  19. Congenital hemifacial hyperplasia

    PubMed Central

    Deshingkar, S. A.; Barpande, S. R.; Bhavthankar, J. D.

    2011-01-01

    Congenital hemifacial hyperplasia (CHH) is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge. PMID:22090778

  20. Congenital brachymetatarsia: three cases.

    PubMed

    Ferrández, L; Yubero, J; Usabiaga, J; Ramos, L

    1993-01-01

    We report on three cases with congenital brachymetatarsia, one with bilateral affectation, together with the results of a lengthening of the short metatarsal bones by progressive axial distraction using an external minifixator. The method proved to be easy to implement, permitting immediate functionality of the ankle and early load bearing. The immediate results (cosmetic) and later findings (functional) were excellent in all three cases. PMID:8314189

  1. Congenital scoliosis - Quo vadis?

    PubMed

    Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

    2010-04-01

    Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV) which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions) and patient's age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only) surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the

  2. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  3. Congenital Cataract Screening

    PubMed Central

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  4. Congenital Cataract Screening.

    PubMed

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (<6 weeks of age, based on general neonatal health) is important for achieving the best visual outcome particularly in unilateral cases. In bilateral cases, surgery is highly recommended before appearance of strabismus or nystagmus (<10 weeks of age) with no longer than a one-week interval between the fellow eyes. Parents should be informed that surgery is a starting point and not the endpoint of treatment. Appropriate postoperative management including immediate optical correction in the form of aphakic glasses or contact lenses, or intraocular lens (IOL) implantation at the appropriate age (>1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  5. 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.

  6. Are Eddy Covariance series stationary?

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Spectral analysis via a discrete Fourier transform is used often to examine eddy covariance series for cycles (eddies) of interest. Generally the analysis is performed on hourly or half-hourly data sets collected at 10 or 20 Hz. Each original series is often assumed to be stationary. Also automated ...

  7. Congenital hemangiopericytoma: two case reports.

    PubMed

    Bosch, A M; Hack, W W; Ekkelkamp, S

    1998-03-01

    Congenital hemangiopericytoma is a rare tumor consisting of capillaries surrounded by pericytes. Only histologically can the tumor be distinguished from other vascular hamartomas. For a long time the congenital type was considered benign; however, metastases have recently been described. A histologic diagnosis of all soft-tissue sarcomas should be made. We describe two patients with congenital hemangiopericytomas in whom the diagnosis was not suspected until after histologic examination. Long-term follow-up is indicated.

  8. Congenital Dislocation of the Hip

    PubMed Central

    Premi, J. M.

    1976-01-01

    The implications of a diagnosis of congenital dislocation of the hip and the importance of the role of the family physician in early detection and treatment are identified. A review of the salient clinical features of congenital dislocation of the hip is undertaken. The results of a survey carried out in the author's practice on an unusual incidence of congenital dislocated hip are reviewed. PMID:21308053

  9. 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.

  10. Micropenis and congenital adrenal hypoplasia.

    PubMed

    Bourgeois, M J; Jones, B; Waagner, D C; Dunn, D

    1989-01-01

    Micropenis is often an early sign of congenital hypopituitarism. It has also been associated with congenital adrenal hypoplasia in infants with anencephaly and pituitary agenesis. This report is on two infants with micropenis and congenital adrenal hypoplasia. One presented with a similar clinical course and postmortem findings to previously reported cases of adrenal hypoplasia and pituitary agenesis. The other patient represents the first reported case of an infant with micropenis and congenital adrenal hypoplasia in the absence of pituitary agenesis. The histologic patterns of adrenal hypoplasia, as well as the etiologic and clinical implications of its association with micropenis, are discussed.

  11. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... Home Health Conditions congenital hepatic fibrosis congenital hepatic fibrosis Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital hepatic fibrosis is a disease of the liver that is ...

  12. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... Registry: Leber congenital amaurosis 9 National Eye Institute: Gene Therapy for Leber Congenital Amaurosis These resources from MedlinePlus ... Additional NIH Resources (1 link) National Eye Institute: Gene Therapy for Leber Congenital Amaurosis Educational Resources (3 links) ...

  13. 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.

  14. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2015-10-26

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

  15. Identifying Gaps in Technology for Congenital Interventions: Analysis of a Needs Survey from Congenital Interventional Cardiologists.

    PubMed

    Shibbani, Kamel; Kenny, Damien; McElhinney, Doff; Hijazi, Ziyad M; Moran, Tim

    2016-06-01

    We carried out a device-needs survey to evaluate the gaps in device and equipment availability for congenital interventional cardiologists. As the complexity and demand for more complete solutions to congenital heart lesions increase, there is a growing need for modification and development of devices and equipment to support this endeavor. The survey was sent out via e-mail to members of the Congenital Cardiovascular Interventional Study Consortium and the Society for Cardiac Angiography and Interventions with a reach of over 350 congenital interventionalists. Responses were received from 68 cardiologists in 8 countries. In terms of the most desired device, 41 % ranked bioresorbable stents as their first choice from a list of 12 possible devices. Similarly, 23 % ranked large covered stents as their first choice. Twenty-seven percent of participants believed bioresorbable stents would have the greatest potential to improve morbidity of their patients, with another 27 % reporting that covered stents would have the greatest impact. Fifty percent of participants reported that they would like to see large covered stents available in their country. These data point toward a perceived need for the development/approval of bioresorbable stents for the pediatric age group, as well as the need to approve the use of large covered stents in the pediatric age group in the USA.

  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 granular cell epulis.

    PubMed

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

    Congenital granular cell epulis is a rarely reported lesion of unknown histogenesis with a strong predilection for the maxillary alveolar ridge of newborn girls. Microscopically, it demonstrates nests of polygonal cells with granular cytoplasm, a prominent capillary network, and attenuated overlying squamous epithelium. The lesion lacks immunoreactivity for S-100, laminin, chromogranin, and most other markers except neuron-specific enolase and vimentin. Through careful observation of its unique clinical, histopathologic, and immunohistochemical features, this lesion can be distinguished from the more common adult granular cell tumor as well as other differential diagnoses.

  18. Neonatal congenital microvillus atrophy

    PubMed Central

    Pecache, N; Patole, S; Hagan, R; Hill, D; Charles, A; Papadimitriou, J

    2004-01-01

    Congenital microvillous atrophy (CMVA) is the leading cause of neonatal secretory diarrhoea with onset either in the first 72 hours of life (early onset) or at 6–8 weeks after birth (late onset). To date over 30 cases have been reported worldwide. The prognosis for this life threatening condition continues to be poor. Therapeutic agents like somatostatin and epidermal growth factor are either ineffective or of marginal benefit. Overall five year survival after small bowel transplantation is currently ∼50%. The following brief review is aimed towards helping neonatologists/perinatologists in the early diagnosis, and management of CMVA and in counselling the parents appropriately. PMID:14970294

  19. [Congenital linear nevus sebaceus].

    PubMed

    Linnemann, Anders; Bygum, Anette; Fenger-Grøn, Jesper

    2011-09-01

    An unusual case of nevus sebaceous is described. Nevus sebaceous is a congenital epidermal hamartoma of the skin and the predilection site is the head or neck. In this case the nevus followed the lines of Blaschko along the back of the left lower extremity. The linear lesion seemed papulovesicular which caused suspicion of incontinentia pigmenti or infection, and the boy received antimicrobial treatment until a biopsy revealed the correct diagnosis. We wish to emphasize this clinical picture to spare the patient and relatives from unnecessary tests, treatment and concern. PMID:21893006

  20. Congenital anterior urethral diverticulum.

    PubMed

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

    Congenital anterior urethral diverticulum (CAUD) may be found all along the anterior urethra and may present itself at any age, from infant to adult. Most children with this condition present with difficulty in initiating micturition, dribbling of urine, poor urinary stream, or urinary tract infection. A careful history will reveal that these children never had a good urinary stream since birth, and the telltale sign is a cystic swelling of the penile urethra. In this paper, we present two cases of CAUD that were managed by excision of the diverticulum with primary repair. PMID:26328174

  1. 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.

  2. [Enzymopathic congenital hyperlactacidemia].

    PubMed

    Leroux, J P; Marsac, C; Saudubray, J M

    1976-01-01

    Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin. PMID:184725

  3. Congenital Cytomegalovirus Infection.

    PubMed

    Bale, James F.; Miner, Lonnie; Petheram, Susan J.

    2002-05-01

    Intrauterine infection with cytomegalovirus (CMV), a betaherpesvirus, remains the most frequent congenital virus infection in many regions of the world. Although most CMV-infected newborns lack signs of CMV infection, approximately 10% have signs that can consist of low birth weight, jaundice, hepatosplenomegaly, skin rash, microcephaly, and chorioretinitis. Neonates with signs of CMV infection at birth have high rates of audiologic and neurodevelopmental sequelae. Although postnatal therapy with ganciclovir transiently reduces virus shedding and may lessen the audiologic consequences of CMV in some infected infants, additional strategies are needed to prevent congenital CMV disease and to improve the neurodevelopmental prognosis of infants infected with CMV in utero. Some cases of intrauterine infections can be prevented in susceptible women by avoiding contact with the urine or saliva of young children who may be shedding CMV. Vaccines against CMV remain in the experimental stages of development. Termination of pregnancy can be offered to women whose infants have evidence of intrauterine CMV infection and sonographic signs of central nervous system damage. Infants who survive symptomatic intrauterine infections have high rates of neurodevelopmental sequelae and require comprehensive evaluation and therapy through center and home-based early intervention programs. PMID:11931729

  4. [Genetics of congenital lipodystrophies].

    PubMed

    Buffet, A; Lombes, M; Caron, P

    2015-10-01

    Congenital lipodystrophies are heterogeneous genetic diseases, leading to the loss of adipose tissue. This loss of adipose tissue can be generalized or partial, thus defining different phenotypes. These lipodystrophies have a major metabolic impact, secondary to lipotoxicity. This lipotoxicity is responsible for insulin resistance, dyslipidemia and hepatic steatosis. The severity of the metabolic impact correlates with the severity of the loss of adipose tissue. Mutations in 15 predisposition genes are currently described; BSCL2 and AGPT2 genes are the major genes in the generalized forms. On the contrary, LMNA and PPARG gene mutations are recovered in partial lipodystrophies forms. These different genes encode for proteins involved in adipocyte physiology, altering adipocyte differentiation, triglycerides synthesis and lysis or playing a major role in the lipid droplet formation. Congenital lipodystrophies treatment is based on the management of metabolic comorbidities but recombinant leptin therapy appears to have promising results. These different points have been recently discussed during the 2015 Endocrine Society Congress, notably by S. O'Rahilly and are highlighted in this review.

  5. [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.

  6. 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.

  7. The use of octreotide to treat congenital chylothorax.

    PubMed

    Paget-Brown, Alix; Kattwinkel, John; Rodgers, Bradley M; Michalsky, Marc P

    2006-04-01

    We report the use of the octreotide (a somatostatin analogue) in the treatment of idiopathic congenital chylothorax in a patient with Turner's syndrome who had previously failed conservative medical therapy. The patient improved rapidly after initiation of octreotide with complete resolution after 5 days of continuous therapy (10 microg/kg per hour).

  8. 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

  9. 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…

  10. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.

  11. Congenital myopathies and muscular dystrophies.

    PubMed

    Gilbreath, Heather R; Castro, Diana; Iannaccone, Susan T

    2014-08-01

    The congenital muscular dystrophies (CMD) and myopathies (CM) are a diverse group of diseases that share features such as early onset of symptoms (in the first year of life), genetic causes, and high risks for restrictive lung disease and orthopedic deformities. Understanding for disease mechanism is available and a fairly well-structured genotype-phenotype correlation for all the CMDs and CMs is now available. To best illustrate the clinical spectrum and diagnostic algorithm for these diseases, this article presents 5 cases, including Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy. PMID:25037085

  12. Congenital Self-Healing Reticulohistiocytosis

    PubMed Central

    Lee, Young H.; Talekar, Mala K.; Chung, Catherine G.; Bell, Moshe D.

    2014-01-01

    Congenital self-healing reticulohistiocytosis, also known as congenital self-healing Langerhans cell histiocytosis or Hashimoto-Pritzker disease, is a Langerhans cell histiocytosis. It is characterized by skin lesions in the newborn period in an otherwise healthy infant that show a Langerhans cell infiltrate in the skin on histological analysis. These findings subsequently spontaneously involute. This report describes two newborns who presented at birth with differing presentations of congenital self-healing reticulohistiocytosis. A review of the disorder, including diagnosis and evaluation, is presented. PMID:24578781

  13. 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

  14. Congenital erythropoietic porphyria.

    PubMed

    Fritsch, C; Lang, K; Bolsen, K; Lehmann, P; Ruzicka, T

    1998-01-01

    Congenital erythropoietic porphyria (CEP) is one of the rarest autosomal-recessive disorders of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. High amounts of uroporphyrin I accumulate in all cells and tissues, reflected by an increased erythrocyte porphyrin concentration and excretion of high porphyrin amounts in urine and feces. Dermal deposits of uroporphyrin frequently induce a dramatic phototoxic oxygen-dependent skin damage with extensive ulcerations and mutilations. Splenomegaly and hemolytic anemia are typical internal symptoms. Skeletal changes such as osteolysis and calcifications are frequent. Up to date 130 cases of CEP have been published. Splenectomy and erythrocyte transfusions showed some beneficial effect. Bone marrow transplantation was performed in 3 patients and stem cell transplantation in 1. The best therapy is the avoidance of sunlight. We give a report on our latest cases of CEP. PMID:10343205

  15. On asymptotic completeness of scattering in the nonlinear Lamb system, II

    NASA Astrophysics Data System (ADS)

    Komech, A. I.; Merzon, A. E.

    2013-01-01

    We establish the asymptotic completeness in the nonlinear Lamb system for hyperbolic stationary states. For the proof we construct a trajectory of a reduced equation (which is a nonlinear nonautonomous ordinary differential equation) converging to a hyperbolic stationary point using the inverse function theorem in a Banach space. We give counterexamples which show nonexistence of such trajectories for nonhyperbolic stationary points.

  16. Radiofrequency Coblation of Congenital Nasopharyngeal Teratoma: A Novel Technique

    PubMed Central

    Hwang, Sang Yun; Jefferson, Niall; Mohorikar, Alok; Jacobson, Ian

    2015-01-01

    Introduction. Congenital nasopharyngeal teratomas are rare tumours that pose difficulties in diagnosis and surgical management. We report the first use of radiofrequency coblation in the management of such tumours. Case Report. A premature baby with a perinatal diagnosis of a large, obstructing nasooropharyngeal mass was referred to the ENT service for further investigations and management. The initial biopsy was suggestive of a neuroblastoma, but the tumour demonstrated rapid growth despite appropriate chemotherapy. In a novel use of radiofrequency coblation, the nasooropharyngeal mass was completely excised, with the final histopathology revealing a congenital nasopharyngeal teratoma. Conclusion. We report the first use of radiofrequency coblation to excise a congenital nasopharyngeal teratoma and discuss its advantages. PMID:25685579

  17. 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.

  18. [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.

  19. Imaging diagnosis of congenital uterine malformation.

    PubMed

    Pui, Margaret H

    2004-10-01

    Congenital anomaly of the female reproductive system is associated with higher rate of infertility, spontaneous abortion, intrauterine growth retardation, premature birth and postpartum bleed. Because of the variable clinical pictures of obstruction of menstrual flow in adolescence to hypomenorrhea, vaginal discharge, dyspareunia, and fertility problems in adult life, early and accurate diagnosis is difficult. Complete uterine and vaginal septum can be easily confused with uterus didelphys. Management of these two müllerian duct anomalies is different. With improved treatment methods for complete relief of symptoms and prevention of further sequelae, comprehensive evaluation is important to identify the underlying problem and formulate appropriate therapeutic plan. The embryology, classification, and clinical presentation of uterine malformation, advantages and limitations of diagnostic methods including hysterosalpingogram, ultrasound, magnetic resonance imaging, laparoscopy, and hysteroscopy are discussed. The imaging features of different types of uterine anomalies are illustrated.

  20. [Congenital lumbar hernia].

    PubMed

    Peláez Mata, D J; Alvarez Muñoz, V; Fernández Jiménez, I; García Crespo, J M; Teixidor de Otto, J L

    1998-07-01

    Hernias in the lumbar region are abdominal wall defects that appear in two possible locations: the superior lumbar triangle of Grynfelt-Lesshaft and the inferior lumbar triangle of Petit. There are 40 cases reported in the pediatric literature, and only 16 are considered congenital, associated with the lumbocostovertebral syndrome and/or meningomyelocele. A new case is presented. A premature newborn with a mass in the left flank that increases when the patient cries and reduces easily. The complementary studies confirm the diagnosis of lumbar hernia and reveal the presence of lumbocostovertebral syndrome associated. At the time of operation a well defined fascial defect at the superior lumbar triangle of Grynfelt-Lesshaft is primarily closed. The diagnosis of lumbar hernia is not difficult to establish but it is necessary the screening of the lumbocostovertebral syndrome. We recommend the surgical treatment before 12 months of age; the objective is to close the defect primarily or to use prosthetic material if necessary. PMID:12602034

  1. [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.

  2. Congenital mirror movements

    PubMed Central

    Méneret, Aurélie; Depienne, Christel; Riant, Florence; Trouillard, Oriane; Bouteiller, Delphine; Cincotta, Massimo; Bitoun, Pierre; Wickert, Julia; Lagroua, Isabelle; Westenberger, Ana; Borgheresi, Alessandra; Doummar, Diane; Romano, Marcello; Rossi, Simone; Defebvre, Luc; De Meirleir, Linda; Espay, Alberto J.; Fiori, Simona; Klebe, Stephan; Quélin, Chloé; Rudnik-Schöneborn, Sabine; Plessis, Ghislaine; Dale, Russell C.; Sklower Brooks, Susan; Dziezyc, Karolina; Pollak, Pierre; Golmard, Jean-Louis; Vidailhet, Marie; Brice, Alexis

    2014-01-01

    Objective: We screened a large series of individuals with congenital mirror movements (CMM) for mutations in the 2 identified causative genes, DCC and RAD51. Methods: We studied 6 familial and 20 simplex CMM cases. Each patient had a standardized neurologic assessment. Analysis of DCC and RAD51 coding regions included Sanger sequencing and a quantitative method allowing detection of micro rearrangements. We then compared the frequency of rare variants predicted to be pathogenic by either the PolyPhen-2 or the SIFT algorithm in our population and in the 4,300 controls of European origin on the Exome Variant Server. Results: We found 3 novel truncating mutations of DCC that segregate with CMM in 4 of the 6 families. Among the 20 simplex cases, we found one exonic deletion of DCC, one DCC mutation leading to a frameshift, 5 missense variants in DCC, and 2 missense variants in RAD51. All 7 missense variants were predicted to be pathogenic by one or both algorithms. Statistical analysis showed that the frequency of variants predicted to be deleterious was significantly different between patients and controls (p < 0.001 for both RAD51 and DCC). Conclusion: Mutations and variants in DCC and RAD51 are strongly associated with CMM, but additional genes causing CMM remain to be discovered. PMID:24808016

  3. [Congenital foot abnormalities].

    PubMed

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  4. 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.

  5. 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…

  6. Stationary and non-stationary occurrences of miniature end plate potentials are well described as stationary and non-stationary Poisson processes in the mollusc Navanax inermis.

    PubMed

    Cappell, M S; Spray, D C; Bennett, M V

    1988-06-28

    Protractor muscles in the gastropod mollusc Navanax inermis exhibit typical spontaneous miniature end plate potentials with mean amplitude 1.71 +/- 1.19 (standard deviation) mV. The evoked end plate potential is quantized, with a quantum equal to the miniature end plate potential amplitude. When their rate is stationary, occurrence of miniature end plate potentials is a random, Poisson process. When non-stationary, spontaneous miniature end plate potential occurrence is a non-stationary Poisson process, a Poisson process with the mean frequency changing with time. This extends the random Poisson model for miniature end plate potentials to the frequently observed non-stationary occurrence. Reported deviations from a Poisson process can sometimes be accounted for by the non-stationary Poisson process and more complex models, such as clustered release, are not always needed.

  7. Extraction of stationary components in biosignal discrimination.

    PubMed

    Martinez-Vargas, J D; Cardenas-Pena, D; Castellanos-Dominguez, G

    2012-01-01

    Biosignal recordings are widely used in the medical environment to support the evaluation and the diagnosis of pathologies. Nevertheless, the main difficulty lies in the non-stationary behavior of the biosignals, difficulting the obtention of patterns characterizing the changes in physiological or pathological states. Thus, the obtention of the stationary and non-stationary components of a biosignal is still an open issue. This work proposes a methodology to detect time-homogeneities based on time-frequency analysis with aim to extract the non-stationary behavior of the biosignal. Results show an increase in the stationarity and in the distance between classes of the reconstructions from the enhanced time-frequency representations. The stationary components extracted with the proposed approach can be used to solve biosignal classification problems. PMID:23365817

  8. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered. PMID:26769614

  9. Congenital Scoliosis (Mini-review).

    PubMed

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  10. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

  11. 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.

  12. Stationary flow conditions in pulsed supersonic beams.

    PubMed

    Christen, Wolfgang

    2013-10-21

    We describe a generally applicable method for the experimental determination of stationary flow conditions in pulsed supersonic beams, utilizing time-resolved electron induced fluorescence measurements of high pressure jet expansions of helium. The detection of ultraviolet photons from electronically excited helium emitted very close to the nozzle exit images the valve opening behavior-with the decided advantage that a photon signal is not affected by beam-skimmer and beam-residual gas interactions; it thus allows to conclusively determine those operation parameters of a pulsed valve that yield complete opening. The studies reveal that a "flat-top" signal, indicating constant density and commonly considered as experimental criterion for continuous flow, is insufficient. Moreover, translational temperature and mean terminal flow velocity turn out to be significantly more sensitive in testing for the equivalent behavior of a continuous nozzle source. Based on the widely distributed Even-Lavie valve we demonstrate that, in principle, it is possible to achieve quasi-continuous flow conditions even with fast-acting valves; however, the two prerequisites are a minimum pulse duration that is much longer than standard practice and previous estimates, and a suitable tagging of the appropriate beam segment.

  13. Irreversible reactions and diffusive escape: Stationary properties

    DOE PAGESBeta

    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

  14. 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.

  15. Genetics Home Reference: congenital dyserythropoietic anemia

    MedlinePlus

    ... Understand Genetics Home Health Conditions CDA congenital dyserythropoietic anemia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  16. 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: ...

  17. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  18. 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.

  19. 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

  20. Stationary Plasma Thruster Plume Emissions

    NASA Technical Reports Server (NTRS)

    Manzella, David H.

    1994-01-01

    The emission spectrum from a xenon plasma produced by a Stationary Plasma Thruster provided by the Ballistic Missile Defense Organization (BMDO) was measured. Approximately 270 individual Xe I, Xe II, and XE III transitions were identified. A total of 250 mW of radiated optical emission was estimated from measurements taken at the thruster exit plane. There was no evidence of erosion products in the emission signature. Ingestion and ionization of background gas at elevated background pressure was detected. The distribution of excited states could be described by temperatures ranging from fractions of 1 eV to 4 eV with a high degree of uncertainty due to the nonequilibrium nature of this plasma. The plasma was over 95 percent ionized at the thruster exit plane. Between 10 and 20 percent of the ions were doubly charged. Two modes of operation were identified. The intensity of plasma emission increased by a factor of two during operation in an oscillatory mode. The transfer between the two modes of operation was likely related to unidentified phenomena occurring on a time scale of minutes.

  1. Distorted stationary rotating black holes

    NASA Astrophysics Data System (ADS)

    Shoom, Andrey A.

    2015-03-01

    We study the interior of distorted stationary rotating black holes on the example of a Kerr black hole distorted by external static and axisymmetric mass distribution. We show that there is a duality transformation between the outer and inner horizons of the black hole, which is different from that of an electrically charged static distorted black hole. The duality transformation is directly related to the discrete symmetry of the space-time. The black hole horizon areas, surface gravity, and angular momentum satisfy the Smarr formula constructed for both the horizons. We formulate the zeroth, the first, and the second laws of black hole thermodynamics for both the horizons of the black hole and show the correspondence between the local and the global forms of the first law. The Smarr formula and the laws of thermodynamics formulated for both the horizons are related by the duality transformation. The distortion is illustrated on the example of a quadrupole and octupole fields. The distortion fields noticeably affect the proper time of a free fall from the outer to the inner horizon of the black hole along the symmetry semiaxes. There is some minimal nonzero value of the quadrupole and octupole moments when the time becomes minimal. The minimal proper time indicates the closest approach of the horizons due to the distortion.

  2. 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

  3. Congenital Sialolipoma in an Infant.

    PubMed

    Mazlumoglu, Muhammed Recai; Altas, Enver; Oner, Fatih; Ucuncu, Harun; Calik, Muhammed

    2015-11-01

    Sialolipoma is a newly recognized tumor of the major and minor salivary glands and represents only 0.3% of all salivary gland tumors. Only 3 cases of congenital sialolipoma are available in the literature. In the current case, we performed a total parotidectomy with facial nerve preservation on a 12-week-old infant exhibiting huge mass in the parotid region. Histopathology results showed sialolipoma. There was no recurrence at the 18-month follow-up. Although it is a very rare disease in infants, congenital sialolipoma should be kept in mind in patients with parotid mass. The primary treatment is parotidectomy with facial nerve preservation. PMID:26594977

  4. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia. PMID:17650728

  5. [Congenital lumbar hernia and bilateral renal agenesis].

    PubMed

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  6. Congenital deficiency of the fibula with ipsilateral iliac horn and absence of the kidney.

    PubMed

    Haga, N; Lee, K; Nakamura, K; Okazaki, Y; Mamada, K; Kurokawa, T

    1997-04-01

    Congenital deficiency of the fibula is sometimes accompanied by femoral hypoplasia, genu valgum, patellar a/hypoplasia or dislocation, tibial bowing, foot deformity, and toe deficiency in the affected limb. 'Iliac horns' are bony projections extending posterolaterally from the ilium and considered to be pathognomonic of nail-patella syndrome. We report a 5-year-old Japanese girl with congenital complete deficiency of the left fibula, ipsilateral iliac horn and absence of the left kidney. PMID:9134300

  7. Dynamical response to a stationary tidal field

    NASA Astrophysics Data System (ADS)

    Landry, Philippe; Poisson, Eric

    2015-12-01

    We demonstrate that a slowly rotating compact body subjected to a stationary tidal field undergoes a dynamical response, in which the fluid variables and the interior metric vary on the time scale of the rotation period. This dynamical response requires the tidal field to have a gravitomagnetic component generated by external mass currents; the response to a gravitoelectric tidal field is stationary. We confirm that in a calculation carried out to first order in the body's rotation, the exterior geometry bears no trace of this internal dynamics; it remains stationary in spite of the time-dependent interior.

  8. Separation of stationary and non-stationary sources with a generalized eigenvalue problem.

    PubMed

    Hara, Satoshi; Kawahara, Yoshinobu; Washio, Takashi; von Bünau, Paul; Tokunaga, Terumasa; Yumoto, Kiyohumi

    2012-09-01

    Non-stationary effects are ubiquitous in real world data. In many settings, the observed signals are a mixture of underlying stationary and non-stationary sources that cannot be measured directly. For example, in EEG analysis, electrodes on the scalp record the activity from several sources located inside the brain, which one could only measure invasively. Discerning stationary and non-stationary contributions is an important step towards uncovering the mechanisms of the data generating system. To that end, in Stationary Subspace Analysis (SSA), the observed signal is modeled as a linear superposition of stationary and non-stationary sources, where the aim is to separate the two groups in the mixture. In this paper, we propose the first SSA algorithm that has a closed form solution. The novel method, Analytic SSA (ASSA), is more than 100 times faster than the state-of-the-art, numerically stable, and guaranteed to be optimal when the covariance between stationary and non-stationary sources is time-constant. In numerical simulations on wide range of settings, we show that our method yields superior results, even for signals with time-varying group-wise covariance. In an application to geophysical data analysis, ASSA extracts meaningful components that shed new light on the Pi 2 pulsations of the geomagnetic field. PMID:22551683

  9. Congenital Paraesophageal Hernia in a Cat.

    PubMed

    Tong, Kim; Guillou, Reunan; Vét, Doc

    2015-01-01

    A 3 mo old male domestic shorthair weighing 2 kg was presented for acute onset of anorexia, lethargy, paradoxical breathing, and a palpable mass effect in the cranial abdomen. Initial diagnostics and imaging suggested a pleuroperitoneal or hiatal hernia. Emergency abdominal exploration was performed, and a complex type II paraesophageal hiatal hernia was identified. The entire stomach, greater and lesser omenta, spleen, left limb of the pancreas, and the proximal segment of the descending duodenum were herniated through a discrete defect in the phrenicoesophageal ligament. After reduction of the herniated organs back into the abdomen, a phrenicoplasty, esophagopexy, and left-sided fundic gastropexy were performed. The cat recovered uneventfully from the procedure and was free of any signs of disease for at least 30 mo postoperatively. This is the first detailed report of the findings and successful surgical treatment of a complex congenital, type II paraesophageal hiatal hernia with complete herniation of the stomach, omenta, and spleen in a cat.

  10. Congenital intrahepatic portosystemic shunts: Imaging findings and endovascular management

    PubMed Central

    Chandrasekharan, Rajsekar; Pullara, Sreekumar K; Thomas, Tixon; Kader, Nazar Puthukudiyil; Moorthy, Srikanth

    2016-01-01

    We present two cases of congenital intrahepatic portosystemic shunts in which the right portal vein directly communicated with the inferior venacava (IVC) in one patient and with the hepatic vein in the other. Multiple hepatic nodules consistent with focal nodular hyperplasia (FNH) were seen in the first patient. The second patient presented with recurrent history of hepatic encephalopathy. Percutaneous transhepatic embolization was performed using coils and Amplatz device following which she completely recovered. PMID:27081230

  11. Network Completion for Static Gene Expression Data

    PubMed Central

    Nakajima, Natsu

    2014-01-01

    We tackle the problem of completing and inferring genetic networks under stationary conditions from static data, where network completion is to make the minimum amount of modifications to an initial network so that the completed network is most consistent with the expression data in which addition of edges and deletion of edges are basic modification operations. For this problem, we present a new method for network completion using dynamic programming and least-squares fitting. This method can find an optimal solution in polynomial time if the maximum indegree of the network is bounded by a constant. We evaluate the effectiveness of our method through computational experiments using synthetic data. Furthermore, we demonstrate that our proposed method can distinguish the differences between two types of genetic networks under stationary conditions from lung cancer and normal gene expression data. PMID:24826192

  12. 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.

  13. New approach to magnetohydrodynamics spectral theory of stationary plasma flows

    NASA Astrophysics Data System (ADS)

    (Hans Goedbloed, J. P.

    2011-07-01

    While the basic equations of MHD spectral theory date back to 1958 for static plasmas (Bernstein et al 1958 Proc. R. Soc. A 244 17) and to 1960 for stationary plasma flows (Frieman and Rotenberg 1960 Rev. Mod. Phys. 32 898), progress on the latter subject has been slow since it suffers from lack of analytical insight concerning the structure of the spectrum. One of the reasons is the usual misnomer of 'non-self adjointness' of the stationary flow problem. Actually, self-adjointness of the occurring operators, namely the generalized force operator and the Doppler-Coriolis gradient operator -iρv·∇, was proved right away by Frieman and Rotenberg. Based on the reality of the two quadratic forms corresponding to these operators, we here construct (a) an effective method to compute the solution paths in the complex ω plane on which the eigenvalues are situated, (b) the counterpart of the oscillation theorem for eigenvalues of static equilibria (Goedbloed and Sakanaka 1974 Phys. Fluids 17 908) for the eigenvalues of stationary flows, based on the monotonicity of the alternating ratio, or alternator, of the boundary values of the displacement ξ and the total pressure perturbation Π. This enables one to map out the complete spectrum of eigenvalues in the complex ω-plane. The intricate topology of the solution paths is discussed for the fundamental examples of Rayleigh-Taylor, Kelvin-Helmholtz and combined instabilities.

  14. Optimal packing characteristics of rolled, continuous stationary-phase columns.

    PubMed

    Li, Chenghong; Ladisch, Christine M; Yang, Yiqi; Hendrickson, Richard; Keim, Craig; Mosier, Nathan; Ladisch, Michael R

    2002-01-01

    Rolled, continuous stationary phases were constructed by tightly rolling and inserting a whole textile fabric into a chromatography column. This work reports the column performance, in terms of plate height, void fraction, and resolution, of 10 cellulose-based fabrics. The relation between fabric structural properties of yarn diameter, fabric count, fabric compressibility, and column performance are quantitated. General requirements, including reproducibility of packing, for choosing fabrics to make a good SEC column are identified. This research showed that the packed columns have an optimal mass of fabric that minimizes plate height and maximizes resolution, in a manner that is consistent with chromatography theory. Mass of material packed is then an important column parameter to consider when optimizing columns for the rapid desalting of proteins. Proteins were completely separated from salt and glucose in less than 8 min at a pressure drop less than 500 psi on the rolled, continuous stationary-phase columns. These results, together with stability and reproducibility, suggest potential industrial applications for cellulose-based rolled, continuous stationary-phase columns where speed is a key parameter in the production process. PMID:11934301

  15. 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.

  16. Congenital Chagas disease: an update

    PubMed Central

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-01-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi. PMID:25760448

  17. Alberta Congenital Anomalies Surveillance System.

    PubMed Central

    Lowry, R B; Thunem, N Y; Anderson-Redick, S

    1989-01-01

    The Alberta Congenital Anomalies Surveillance System was started in 1966 in response to the thalidomide tragedy earlier in the decade. It was one of four provincial surveillance systems on which the federal government relied for baseline statistics of congenital anomalies. The government now collects data from six provinces and one territory. The Alberta Congenital Anomaly Surveillance System originally depended on three types of notification to the Division of Vital Statistics, Department of Health, Government of Alberta: birth notice and certificates of death and stillbirth; increased sources of ascertainment have greatly improved data quality. We present the data for 1980-86 and compare the prevalence rates of selected anomalies with the rates from three other surveillance systems. Surveillance systems do not guarantee that a new teratogen will be detected, but they are extremely valuable for testing hypotheses regarding causation. At the very least they provide baseline data with which to compare any deviation or trend. For many, if not most, congenital anomalies total prevention is not possible; however, surveillance systems can be used to measure progress in prevention. PMID:2819634

  18. Dermatoglyphic's in Congenital Cardiac Disease.

    PubMed

    Brijendra, Singh; Renu, Gupta; Dushyant, Agrawal; Rajneesh, Garg; Sunil, Katri

    2016-02-01

    Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD), 60 cases of Atrial Septal Defects (ASD), 9 cases of Coarctation of Aorta (COA) & 9 cases of Tetralogy of Fallot's (TOF). Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8%) with decrease in loop pattern (36.2%) as compared to those of controls and the difference was highly significant (P<0.001). The difference in the mean total finger ridge count (TFRC) of the controls and of the cases of Congenital Cardiac Diseases (CCD) was found to be highly significant (P<0.001), while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD) was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  19. Angiocardiography in congenital heart malformations

    SciTech Connect

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders.

  20. Rapidly involuting congenital hemangioma with fetal involution.

    PubMed

    Maguiness, Sheilagh; Uihlein, Lily Changchien; Liang, Marilyn G; Kozakewich, Harry; Mulliken, John B

    2015-01-01

    Uncommon congenital hemangiomas differ from common infantile hemangiomas in their appearance, postnatal behavior, histopathology, and immunohistologic staining. Two types are well described in the literature: noninvoluting congenital hemangioma (NICH) and rapidly involuting congenital hemangioma (RICH). We report a series of infants with another presentation of congenital hemangioma that arises prenatally and is nearly regressed at birth. This was a retrospective case series. We describe six infants with unusual congenital vascular tumors. Each lesion presented at birth as a violaceous, atrophic plaque with a surrounding pale halo. The lesions involuted in infancy, fading in color and becoming atrophic, with prominent central veins, similar to RICH in the final stage of regression. The distinctive morphology and behavior suggests that these tumors undergo a life cycle of proliferation and involution during fetal life. We describe a new variant of congenital hemangioma that we refer to as rapidly involuting congenital hemangioma with fetal involution.

  1. Congenital anomalies in the baboon (Papio spp.)

    PubMed Central

    Fox, Benjamin; Owston, Michael A.; Kumar, Shyamesh; Dick, Edward J.

    2011-01-01

    Background A comprehensive survey of the prevalence of congenital anomalies in baboons has not been previously reported. We report the congenital anomalies observed over a 26-year period in a large captive baboon colony. Methods A computer search was performed for all baboon congenital anomalies identified at necropsy and recorded on necropsy submissions. Results We identified 198 congenital anomalies in 166 baboons from 9,972 necropsies (1.66% of total necropsies). The nervous, urogenital, musculoskeletal, and cardiovascular systems were most commonly affected. The most common organs affected were the brain, bone, heart, testicle, kidney, penis, aorta, and skeletal muscle. The most frequent congenital anomalies were blindness, seizures, and hydrocephalus. Conclusions The baboon has an overall frequency of congenital anomalies similar to humans and other nonhuman primates. Although the most frequently affected systems are similar, congenital anomalies involving the digestive system appear to be less common in the baboon. PMID:21332757

  2. Coping with Congenital Hand Differences

    PubMed Central

    Franzblau, Lauren E.; Chung, Kevin C.; Carlozzi, Noelle; Chin, Autumn Y. T.; Nellans, Kate W.; Waljee, Jennifer F.

    2015-01-01

    Purpose Although functional outcomes following reconstruction for congenital hand differences are frequently described, much less is known regarding children’s ability to cope with psychosocial effects of these conditions. We qualitatively explored stress and coping mechanisms among children following reconstructive surgery for congenital hand differences. Methods Forty patients and their parents participated in semi-structured interviews examining stress related to hand functioning and appearance, emotional responses to stress, and coping strategies. Interviews were audio-taped, transcribed, and analyzed thematically. A consensus taxonomy for classifying content evolved from comparisons of coding by two reviewers. Themes expressed by participants were studied for patterns of connection and grouped into broader categories. Results In this sample, 58% of children and 40% of parents reported stress related to congenital hand differences, attributed to functional deficits (61%), hand appearance (27%), social interactions (58%), and emotional reactions (46%). Among the 18 children who reported stress, 43% of parents were not aware of the presence of stress. Eight coping strategies emerged, including humor (12%), self-acceptance (21%), avoidance (27%), seeking external support (30%), concealment (30%), educating others (9%), support programs (21%) and religion (24%). Conclusions Although children with congenital hand differences often experience emotional stress related to functional limitations and aesthetic deformities, many apply positive coping mechanisms that enhance self-esteem and self-esteem. Clinicians caring for children with congenital hand differences should inform families about potential sources of stress in order to direct resources toward strengthening coping strategies and support systems. Level of Evidence Level IV-Case series PMID:25502854

  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. 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."

  5. 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.

  6. 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

  7. 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

  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. 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

  10. Botulinum alignment for congenital esotropia.

    PubMed Central

    Ing, M R

    1992-01-01

    This is the first report of a group of patients with congenital esotropia examined for motor and sensory evidence of binocularity a minimum of 3 years after alignment by botulinum. Evidence for binocularity was clearly present in approximately one half of the patients. Lag time to satisfactory alignment was at least 1 month (average, 5 months) following the initial botulinum injection. The results must be considered preliminary. However, when these results are compared with those of patients with congenital esotropia aligned by incisional surgery by age 2 years and examined with the same testing devices by this same investigator, botulinum alignment appears to be less effective than surgical alignment in establishing evidence for binocularity (P < 0.005). PMID:1494828

  11. 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.

  12. [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.

  13. 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.

  14. Congenital errors of folate metabolism.

    PubMed

    Zittoun, J

    1995-09-01

    Congenital errors of folate metabolism can be related either to defective transport of folate through various cells or to defective intracellular utilization of folate due to some enzyme deficiencies. Defective transport of folate across the intestine and the blood-brain barrier was reported in the condition 'Congenital Malabsorption of Folate'. This disease is characterized by a severe megaloblastic anaemia of early appearance associated with mental retardation. Anaemia is folate-responsive, but neurological symptoms are only poorly improved because of the inability to maintain adequate levels of folate in the CSF. A familial defect of cellular uptake was described in a family with a high frequency of aplastic anaemia or leukaemia. An isolated defect in folate transport into CSF was identified in a patient suffering from a cerebellar syndrome and pyramidal tract dysfunction. Among enzyme deficiencies, some are well documented, others still putative. Methylenetetrahydrofolate reductase deficiency is the most common. The main clinical findings are neurological signs (mental retardation, seizures, rarely schizophrenic syndromes) or vascular disease, without any haematological abnormality. Low levels of folate in serum, red blood cells and CSF associated with homocystinuria are constant. Methionine synthase deficiency is characterized by a megaloblastic anaemia occurring early in life that is more or less folate-responsive and associated with mental retardation. Glutamate formiminotransferase-cyclodeaminase deficiency is responsible for massive excretion of formiminoglutamic acid but megaloblastic anaemia is not constant. The clinical findings are a more or less severe mental or physical retardation. Dihydrofolate reductase deficiency was reported in three children presenting with a megaloblastic anaemia a few days or weeks after birth, which responded to folinic acid. The possible relationship between congenital disorders such as neural tube defects or

  15. [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.

  16. Congenital malformations of human dermatoglyphs

    PubMed Central

    David, T. J.

    1973-01-01

    A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of previous published cases and of new material. Malformations of dermatoglyphs are important as physical signs in paediatric diagnosis. ImagesFIG. 1FIG. 2FIG. 3FIG. 4FIG. 5FIG. 6FIG. 7 PMID:4693462

  17. 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

  18. 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.

  19. Congenital Unilateral Deafness Affects Cerebral Organization of Reading

    PubMed Central

    Adorni, Roberta; Manfredi, Mirella; Proverbio, Alice Mado

    2013-01-01

    It is known that early sensory deprivation modifies brain functional structure and connectivity. The aim of the present study was to investigate the neuro-functional organization of reading in a patient with profound congenital unilateral deafness. Using event-related potentials (ERPs), we compared cortical networks supporting the processing of written words in patient RA (completely deaf in the right ear since birth) and in a group of control volunteers. We found that congenital unilateral hearing deprivation modifies neural mechanisms of word reading. Indeed, while written word processing was left-lateralized in controls, we found a strong right lateralization of the fusiform and inferior occipital gyri activation in RA. This finding goes in the same direction of recent proposals that the ventral occipito-temporal activity in word reading seem to lateralize to the same hemisphere as the one involved in spoken language processing. PMID:24961430

  20. [Anophthalmia and congenital cataract: case report].

    PubMed

    Santana, Alessandro; Koller, Karine; Waiswol, Mauro

    2005-01-01

    The authors report a case of anophthalmia, congenital cataract and systemic malformations. Male patient, 6 months old, left anophthalmia and congenital posterior polar cataract in the right eye. The patient was treated with manual aspiration of the crystalline lens, with no intraocular lens implantation with primary posterior capsulorhexis and anterior vitrectomy through a small incision. The association of anophthalmia and congenital cataract is rare. The early diagnosis and management in these cases is very important for the best visual rehabilitation.

  1. Congenital generalized terminal hypertrichosis with gingival hyperplasia.

    PubMed

    Guevara-Sanginés, Esther; Villalobos, Alejandra; Vega-Memije, Ma Elisa; Mosqueda-Taylor, Adalberto; Canún-Serrano, Sonia; Lacy-Niebla, Rosa Ma

    2002-01-01

    Congenital generalized terminal hypertrichosis is a rare disease, especially when associated with gingival hyperplasia. Congenital hypertrichosis can be a clinical feature of several syndromes, so these patients must be studied by a multidisciplinary team that should include a dermatologist, geneticist, psychologist, odontologist, and an endocrinologist. We report a 7-year-old girl with congenital generalized hypertrichosis and gingival hyperplasia, and analyze the clinical approach, differential diagnosis, and treatment. PMID:11994171

  2. Congenital infiltrative lipomas in a calf.

    PubMed

    Sickinger, Marlene; Wasieri, Jasmin; Koehler, Kernt; Doll, Klaus; Reinacher, Manfred

    2009-09-01

    The current report describes a case of congenital subcutaneous and intramuscular tumors of the neck and tail base in a 4-week-old female Angus-Charolais crossbred calf. Results of clinical and ultrasound examination are summarized. Biopsy and necropsy findings indicated an infiltrative lipoma. Congenital lipomas are uncommon tumors in bovids. Clinical and morphologic differentials, as well as classification and the possible pathogenesis of congenital neoplasms, are discussed. PMID:19737773

  3. 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.

  4. 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.

  5. 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,…

  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. 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…

  8. 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…

  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. 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…

  11. 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…

  12. Self-Organized Stationary States of Tokamaks

    DOE PAGESBeta

    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”.

  13. 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.

  14. Multiple protein stationary phases: a review.

    PubMed

    Singh, N S; Habicht, K-L; Dossou, K S S; Shimmo, R; Wainer, I W; Moaddel, R

    2014-10-01

    Cellular membrane affinity chromatography stationary phases have been extensively used to characterize immobilized proteins and provide a direct measurement of multiple binding sites, including orthosteric and allosteric sites. This review will address the utilization of immobilized cellular and tissue fragments to characterize multiple transmembrane proteins co-immobilized onto a stationary phase. This approach will be illustrated by demonstrating that multiple transmembrane proteins were immobilized from cell lines and tissue fragments. In addition, the immobilization of individual compartments/organelles within a cell will be discussed and the changes in the proteins binding/kinetics based on their location. PMID:24780640

  15. Genetics Home Reference: congenital sucrase-isomaltase deficiency

    MedlinePlus

    ... and other compounds made from these sugar molecules (carbohydrates). Congenital sucrase-isomaltase deficiency usually becomes apparent after ... isomaltase deficiency, congenital Merck Manual for Healthcare Professionals: Carbohydrate ... Congenital sucrase-isomaltase deficiency The American ...

  16. 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

  17. 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. PMID:25497206

  18. Charged particle tunnels from the stationary and non-stationary Kerr-Newman black holes

    NASA Astrophysics Data System (ADS)

    Chen, Deyou; Yang, Shuzheng

    2007-09-01

    Considering the unfixed background space-time and self-gravitational interaction, we view the Hawking radiation of a stationary Kerr-Newman black hole by Hamilton-Jacobi method. Meanwhile, extending this work to non-stationary black holes, we attempt to investigate the Hawking radiation of the non-stationary Kerr-Newman black hole. Both of the results show the tunneling probabilities are related to the change of Bekenstein- Hawking entropy and the radiation spectrums deviate from the purely thermal one, which is in accordance with the known result.

  19. 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.

  20. 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.

  1. Periodically correlated processes and their stationary dilations

    NASA Technical Reports Server (NTRS)

    Miamee, A. G.

    1988-01-01

    An explicit form for a stationary dilation for periodically correlated random processes is obtained. This is then used to give spectral conditions for a periodically correlated process to be non-deterministic, purely deterministic, minimal, and to have a positive angle between its past and future.

  2. Multidivergent-beam stationary cardiac SPECT.

    PubMed

    Zeng, Gengsheng L; Stevens, Andrew M

    2009-07-01

    This article develops a stationary cardiac single photon emission computed tomography (SPECT) system using a novel multidivergent-beam collimator. This stationary SPECT system is inexpensive to build, small, and able to acquire true dynamic SPECT data. Stationary cardiac SPECT systems with multipinhole technology already exist. The proposed approach is to replace the multipinhole collimators with the originally designed multidivergent-beam collimators. The motivation for replacing the pinhole technology by divergent-beam technology is based on the following facts. The resolution/sensitivity trade-off for the pinhole is excellent (good resolution and good sensitivity) only in small object (e.g., small animal) imaging when it operates in the image magnifying mode. However, in large object (e.g., human) imaging, the resolution/sensitivity trade-off is poor (poor resolution and poor sensitivity) when the pinhole operates in the image reducing mode. In a stationary system, the number of angular views is limited; thus, image reduction is necessary to obtain more view angles. In this image reducing situation, divergent-beam collimation is able to provide better resolution and detection sensitivity than pinhole collimation. Computer simulations are carried out to verified the claims. PMID:19673185

  3. 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 used in the…

  4. 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.

  5. Pool film boiling from rotating and stationary spheres in liquid nitrogen. [for SSME turbopump ball bearings

    NASA Technical Reports Server (NTRS)

    Cuan, Winston M.; Schwartz, Sidney H.

    1988-01-01

    Results are presented for a preliminary experiment involving a saturated pool boiling at 1 atm from rotating 2 and 3 inch diameter spheres which were immersed in LN2. Additional results are presented for a stationary 2 inch diameter sphere quenched in LN2, which were obtained with a more versatile and complete experimental apparatus. The speed of the rotational tests 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.

  6. [Congenital bilateral vocal cord paralysis].

    PubMed

    Meyer, Lars Christian; Godballe, Christian

    2009-01-12

    Congenital bilateral vocal cord paralysis (CBVCP) is a rare but potentially life-threatening condition and awareness of the condition is necessary to ensure early diagnosis and treatment. This case describes a 25-month-old boy suffering from CBVCP. The main symptoms at birth were inspiratory stridor combined with a normal voice and feeding problems. The difficulties in achieving the right diagnosis are demonstrated, and the treatment so far, including tracheotomy and a feeding tube, is outlined. The importance of fibre optic laryngoscopy in both diagnosis and control is stressed. PMID:19174021

  7. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    PubMed Central

    de Figueiredo, Marina Juliana Pita Sassioto Silveira; dos Reis Braga, Susana; Akkari, Miguel; Prado, José Carlos Lopes; Santili, Cláudio

    2015-01-01

    Congenital pseudarthrosis of the clavicle (PCC) is a rare affection, that can be diagnosed at birth and represent a disturbance of union of the ossification centers. It's more common in girls and in the right side. This study objectives to proceed a revision about the subject, that was searched in online database of LILACS and MEDLINE. We found 56 articles till present data. Besides be a bit infrequent, the PCC must not be missed or even forgotten, especially as differential diagnosis with acute fracture of the clavicle at birth by trauma in the childbirth. The diagnostic is relatively easy and the treatment can be just observation or even surgical. PMID:27047839

  8. Congenital uterine anomalies affecting reproduction.

    PubMed

    Reichman, David E; Laufer, Marc R

    2010-04-01

    The following review seeks to summarise the current data regarding reproductive outcomes associated with congenital uterine anomalies. Such malformations originate from adverse embryologic events ranging from agenesis to lateral and vertical fusion defects. Associated renal anomalies are common both for the symmetric and asymmetric malformations. While fertility is minimally impacted upon by müllerian anomalies in most cases, such malformations have historically been associated with poor obstetric outcomes such as recurrent miscarriage, second trimester loss, preterm delivery, malpresentation and intrauterine foetal demise (IUFD). The following review delineates the existing literature regarding such outcomes and indicates therapies, where applicable, to optimise the care of such patients.

  9. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  10. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented.

  11. Laboratory Diagnosis of Congenital Toxoplasmosis.

    PubMed

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age at which the mother was infected and treatment. Here, we review laboratory methods for the diagnosis of CT, with emphasis on serological tools. A diagnostic algorithm that takes into account maternal history is presented. PMID:27147724

  12. Chaotic Bohmian trajectories for stationary states

    NASA Astrophysics Data System (ADS)

    Cesa, Alexandre; Martin, John; Struyve, Ward

    2016-09-01

    In Bohmian mechanics, the nodes of the wave function play an important role in the generation of chaos. However, so far, most of the attention has been on moving nodes; little is known about the possibility of chaos in the case of stationary nodes. We address this question by considering stationary states, which provide the simplest examples of wave functions with stationary nodes. We provide examples of stationary wave functions for which there is chaos, as demonstrated by numerical computations, for one particle moving in three spatial dimensions and for two and three entangled particles in two dimensions. Our conclusion is that the motion of the nodes is not necessary for the generation of chaos. What is important is the overall complexity of the wave function. That is, if the wave function, or rather its phase, has a complex spatial variation, it will lead to complex Bohmian trajectories and hence to chaos. Another aspect of our work concerns the average Lyapunov exponent, which quantifies the overall amount of chaos. Since it is very hard to evaluate the average Lyapunov exponent analytically, which is often computed numerically, it is useful to have simple quantities that agree well with the average Lyapunov exponent. We investigate possible correlations with quantities such as the participation ratio and different measures of entanglement, for different systems and different families of stationary wave functions. We find that these quantities often tend to correlate to the amount of chaos. However, the correlation is not perfect, because, in particular, these measures do not depend on the form of the basis states used to expand the wave function, while the amount of chaos does.

  13. 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.

  14. Congenital insensitivity to pain with neuroparalytic keratitis.

    PubMed

    Biedner, B; Dagan, M; Gedalia, A; David, R

    1990-08-01

    Congenital insensitivity to pain is a well-defined entity in the group of sensory deficiency syndromes. To the best of our knowledge, unilateral neuroparalytic keratitis associated with congenital insensitivity to pain has not been reported. We report such a case to alert clinicians to this potentially blinding problem.

  15. Snapping during manual stretching in congenital muscular torticollis.

    PubMed

    Cheng, J C; Chen, T M; Tang, S P; Shum, S L; Wong, M W; Metreweli, C

    2001-03-01

    Manual stretching frequently is used in the treatment of congenital muscular torticollis in infants. During manipulation, it is not uncommon for the sternocleidomastoid muscle to snap or suddenly give way. The main objective of this study was to evaluate the predisposing causes and clinical significance of such snapping. Four hundred fifty-five patients younger than 1 year of age with congenital muscular torticollis treated with a standardized gentle manual stretching program during a 13-year period were studied. Using prospective standardized assessment parameters, the pretreatment, treatment, and followup results of a group of 41 patients with snapping detected during treatment were compared with the results of a group of 404 patients without snapping during treatment. The group with snapping was associated with a more severe sternomastoid tumor, higher incidence of hip dysplasia, earlier clinical presentation, and shorter duration of treatment. With a mean followup of 3.5 years, the group with snapping was not different from the group that had no snapping in the final assessment score and percentage requiring surgery. From this study, unintentional snapping during the gentle manipulation treatment of congenital muscular torticollis has clinical and ultrasonographic evidence of partial or complete rupture of the sternocleidomastoid muscle. No long-term deleterious effect on the outcome was observed after the snapping.

  16. Postoperative nosocomial infections among children with congenital heart disease

    PubMed Central

    Zhang, Jian; Yuan, Yan; Li, Peiling; Wang, Tuanjie; Gao, Jun; Yao, Jinhua; Li, Shujun

    2014-01-01

    Objective: To study the pathogen distribution, antimicrobial susceptibility and risk factors of postoperative nosocomial infections among children with congenital heart disease. Methods: Three hundreds children with congenital heart disease admitted to our hospital to receive surgeries from February 2010 to February 2013 were selected. Results: A total of 120 children were tested as positive by sputum culture, with the infection rate of 40.0%. The top five most common pathogenic microorganisms included Staphylococcus epidermidis, Staphylococcus aureus, Enterococcus, Pseudomonas aeruginosa, and Candida albicans. S. epidermidis, S. aureus and Enterococcus were highly resistant to penicillin, azithromycin and erythromycin, moderately susceptible to levofloxacin and cefazolin, and completely susceptible to vancomycin. Multivariate Logistic regression analysis showed that hospitalization stay length, combined use of antibiotics, systemic use of hormones, mechanical ventilation and catheter indwelling were the independent risk factors of postoperative nosocomial infections (P<0.05). Conclusion: Nosocomial infection, which was the most frequent postoperative complication of pediatric congenital heart disease, was predominantly induced by Gram-positive bacteria that were highly susceptible to cephalosporins and vancomycin. Particular attention should be paid to decrease relevant risk factors to improve the prognosis. PMID:24948978

  17. Cardiac Arrhythmias In Congenital Heart Diseases

    PubMed Central

    Khairy, Paul; Balaji, Seshadri

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy. PMID:19898654

  18. Optimum treatment of congenital cytomegalovirus infection.

    PubMed

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

    Congenital cytomegalovirus infection affects 0.7% of live births and is the leading cause of congenital neurological handicaps of infectious origin. However, systematic screening of this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox has been justified by the unavailability of an efficient vaccine and by the scarcity of data available on the treatment of congenital CMV. However, in the last decade interesting new data on the management of this congenital infection has emerged including new results on both neonatal and postnatal treatments. This review provides an update on the potential benefits of antiviral treatment and on passive immunisation both in the neonatal and the antenatal periods. These suggest a benefit to a proactive approach for neonatal and prenatal congenital infections. PMID:27043943

  19. The Single-tooth Implant Treatment of Congenitally Missing Maxillary Lateral Incisors Using Angled Abutments: A Clinical Report

    PubMed Central

    Tuna, Suleyman Hakan; Keyf, Filiz; Pekkan, Gurel

    2009-01-01

    The maxillary lateral incisor is the second most common congenitally absent tooth. There are several treatment options for replacing the missing maxillary lateral incisor, including canine substitution, tooth-supported restoration, or single-tooth implant. Dental implants are an appropriate treatment option for replacing missing maxillary lateral incisor teeth in adolescents when their dental and skeletal development is complete. This case report presents the treatment of a patient with congenitally missing maxillary lateral incisors using dental implants with angled abutments. PMID:21528038

  20. 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.

  1. Congenital toxoplasmosis in premature twins.

    PubMed

    Sibalić, D; Djurković-Djaković, O; Nikolić, R

    1986-01-01

    In the course of the study "Toxoplasmosis and Prematurity" 330 blood samples from twins were examined. Our findings in a series of 21 premature twins (maternal sera were also examined) are reported in this paper. Toxoplasma antibodies were detected by the Sabin-Feldman test and specific IgM antibodies by the Remington test. The classical form of congenital toxoplasmosis was present in five pairs of twins, while toxoplasmosis was subclinical at birth in both twins of three pairs. The pattern of disease varied very much in seven pairs of twins. In one twin of two pairs signs of disease were present, while his cotwin appeared unaffected but with strongly positive result of SFT. The most interesting observation, however, is that in three pairs, one twin was infected and had evident congenital toxoplasmosis, while his cotwin was not, as proven by the disappearance of the Toxoplasma antibodies. This finding undoubtedly indicates the importance of whether the placenta is intact or not for the transmission of the infection.

  2. Congenital dislocation of the knee.

    PubMed

    Ko, J Y; Shih, C H; Wenger, D R

    1999-01-01

    Between February 1988 and June 1995, 24 congenital dislocations of the knee joints (17 patients) were reduced with closed methods including immediate reduction, serial casting, or traction in patients from 10 min to 26 days old. At an average follow-up of 4 years and 10 months, an excellent or good result was achieved if there were no associated anomalies. Fair or poor results were the result of delayed treatment or associated musculoskeletal anomalies including arthrogryposis multiplex congenita or Larsen's syndrome. Routine check of the hip dislocation is suggested. Diagnosis with manual testing was difficult, and other methods such as radiography or sonography were suggested in combination to detect hip dysplasia. The dislocated knee should be reduced before treating the hip dislocation. Concomitant treatment of the congenital dislocation of the knee and the hip with Pavlik harness provided satisfactory results. When late, progressive, genu valgus deformity occurred because of global instability of the knee and asymmetric physeal growth, reconstruction of the medial structures of the knee and prolonged bracing provided good results. PMID:10088699

  3. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

    A review of the literature reveals a need to clarify the pathologic physiology of congenital polychlorinated biphenyl (PCB) poisoning, which is characterized by intrauterine growth retardation, brown staining of the skin and mucous membranes as in Addison's disease, natal teeth, widely open fontanelles and sagittal suture and apparent overgrowth of the gingiva. The skull abnormalities may represent irregular calcification, with natal teeth appearing because the bone of the mandible is penetrated more easily than usual. Some fetuses were poisoned at the time the mothers ingested the oil; others were affected in the subsequent years from residual contamination in the mothers' bodies. The misadventure in Japan was repeated in Taiwan in 1979. The seven congenital cases in Taiwan reported thus far seem to differ from those in Japan. In Taiwan the noses were somewhat black, two of the infants did not have low birth weight and the osseous abnormalities of the skull and gingival hyperplasia were not observed. Systematic followup studies should be made in Taiwan of the children born within 2 years of maternal poisoning with PCBs. Special attention should be given to age at first dentition and skull-X-rays for spotty calcification, among other measures of physical, neurologic and intellectual development.

  4. Regulation of Indole Signalling during the Transition of E. coli from Exponential to Stationary Phase.

    PubMed

    Gaimster, Hannah; Summers, David

    2015-01-01

    During the transition from exponential to stationary phase E. coli produces a substantial quantity of the small, aromatic signalling molecule indole. In LB medium the supernatant indole concentration reaches a maximum of 0.5-1 mM. At this concentration indole has been implicated in many processes inducing acid resistance and the modulation of virulence. It has recently been shown that cell-associated indole transiently reaches a very high concentration (approx. 60 mM) during stationary phase entry, presumably because indole is being produced more rapidly than it can leave the cell. It is proposed that this indole pulse inhibits growth and cell division, causing the culture to enter stationary phase before nutrients are completely exhausted, with benefits for survival in long-term stationary phase. This study asks how E. coli cells rapidly upregulate indole production during stationary phase entry and why the indole pulse has a duration of only 10-15 min. We find that at the start of the pulse tryptophanase synthesis is triggered by glucose depletion and that this is correlates with the up-regulation of indole synthesis. The magnitude and duration of the resulting indole pulse are dependent upon the availability of exogenous tryptophan. Indole production stops when all the available tryptophan is depleted and the cell-associated indole equilibrates with the supernatant.

  5. Regulation of Indole Signalling during the Transition of E. coli from Exponential to Stationary Phase

    PubMed Central

    Gaimster, Hannah; Summers, David

    2015-01-01

    During the transition from exponential to stationary phase E. coli produces a substantial quantity of the small, aromatic signalling molecule indole. In LB medium the supernatant indole concentration reaches a maximum of 0.5–1 mM. At this concentration indole has been implicated in many processes inducing acid resistance and the modulation of virulence. It has recently been shown that cell-associated indole transiently reaches a very high concentration (approx. 60 mM) during stationary phase entry, presumably because indole is being produced more rapidly than it can leave the cell. It is proposed that this indole pulse inhibits growth and cell division, causing the culture to enter stationary phase before nutrients are completely exhausted, with benefits for survival in long-term stationary phase. This study asks how E. coli cells rapidly upregulate indole production during stationary phase entry and why the indole pulse has a duration of only 10–15 min. We find that at the start of the pulse tryptophanase synthesis is triggered by glucose depletion and that this is correlates with the up-regulation of indole synthesis. The magnitude and duration of the resulting indole pulse are dependent upon the availability of exogenous tryptophan. Indole production stops when all the available tryptophan is depleted and the cell-associated indole equilibrates with the supernatant. PMID:26332864

  6. 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...

  7. Survival guide: Escherichia coli in the stationary phase

    PubMed Central

    Pletnev, P.; Osterman, I.; Sergiev, P.; Bogdanov, A.; Dontsova, O.

    2015-01-01

    This review centers on the stationary phase of bacterial culture. The basic processes specific to the stationary phase, as well as the regulatory mechanisms that allow the bacteria to survive in conditions of stress, are described. PMID:26798489

  8. 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.

  9. Congenital muscular dystrophy with inflammation: Diagnostic considerations

    PubMed Central

    Konkay, Kaumudi; Kannan, Meena Angamuthu; Lingappa, Lokesh; Uppin, Megha S.; Challa, Sundaram

    2016-01-01

    Background and Purpose: Muscle biopsy features of congenital muscular dystrophies (CMD) vary from usual dystrophic picture to normal or nonspecific myopathic picture or prominent fibrosis or striking inflammatory infiltrate, which may lead to diagnostic errors. A series of patients of CMD with significant inflammatory infiltrates on muscle biopsy were correlated with laminin α2 deficiency on immunohistochemistry (IHC). Material and Methods: Cryostat sections of muscle biopsies from the patients diagnosed as CMD on clinical and muscle biopsy features from 1996 to 2014 were reviewed with hematoxylin and eosin(H&E), enzyme and immunohistochemistry (IHC) with laminin α2. Muscle biopsies with inflammatory infiltrate were correlated with laminin α2 deficiency. Results: There were 65 patients of CMD, with inflammation on muscle biopsy in 16. IHC with laminin α2 was available in nine patients, of which six showed complete absence along sarcolemma (five presented with floppy infant syndrome and one with delayed motor milestones) and three showed discontinuous, and less intense staining. Conclusions: CMD show variable degrees of inflammation on muscle biopsy. A diagnosis of laminin α2 deficient CMD should be considered in patients of muscular dystrophy with inflammation, in children with hypotonia/delayed motor milestones. PMID:27570388

  10. Congenital hypomyelinating neuropathy: a reversible case.

    PubMed

    Ghamdi, M; Armstrong, D L; Miller, G

    1997-01-01

    A boy was born at 39 weeks gestation with severe weakness and hypotonia, fractured femurs, poor suck and swallow, and absent deep tendon reflexes. Electrodiagnostic studies revealed marked slowing of motor nerve conduction velocities and normal muscle electrical activity with no evidence of acute denervation. Muscle biopsy showed mild type 2 fiber predominance, and sural nerve biopsy revealed large axons without myelin, and axons with insufficient amount of myelin for their diameter. There was no evidence of inflammation or demyelination. Gradual clinical improvement in tone and strength occurred in a cephalocaudal direction. By 4 months, motor nerve conduction velocities and clinical examination were normal apart from absent deep tendon reflexes. On review at 19 months, motor development and neurological examination were completely normal. Pathogenesis of this reversible pathologically documented case of congenital hypomyelinating neuropathy is unclear. No evidence was found for an inflammatory, toxic, metabolic, or demyelinating cause. Abnormal expression of a developmental gene, as in reversible cytochrome oxidase deficiency, may be a cause of this neuropathy.

  11. Multidisciplinary Rehabilitation in a Case of Congenital Aglossia with Situs Inversus Totalis.

    PubMed

    Tripathi, Tulika; Neha; Gill, Shubhra; Rai, Priyank

    2015-01-01

    Aglossia is a rare congenital disorder with complete absence of tongue that can also be associated with limb deformities, syndromes and aberrant positioning of the visceral organs. The present case report describes multidisciplinary rehabilitation in a patient with Aglossia Congenita along with dextrocardia, situs inversus, mutilated dentition with a lack of occlusal table and compromised esthetics.

  12. Congenital versus Regressive Onset of Autism Spectrum Disorders: Parents' Beliefs about Causes

    ERIC Educational Resources Information Center

    Goin-Kochel, Robin P.; Myers, Barbara J.

    2005-01-01

    Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…

  13. Relativistic elasticity of stationary fluid branes

    NASA Astrophysics Data System (ADS)

    Armas, Jay; Obers, Niels A.

    2013-02-01

    Fluid mechanics can be formulated on dynamical surfaces of arbitrary codimension embedded in a background space-time. This has been the main object of study of the blackfold approach in which the emphasis has primarily been on stationary fluid configurations. Motivated by this approach we show under certain conditions that a given stationary fluid configuration living on a dynamical surface of vanishing thickness and satisfying locally the first law of thermodynamics will behave like an elastic brane when the surface is subject to small deformations. These results, which are independent of the number of space-time dimensions and of the fluid arising from a gravitational dual, reveal the (electro)elastic character of (charged) black branes when considering extrinsic perturbations.

  14. Stationary SMS lenses for concentrating photovoltaics

    NASA Astrophysics Data System (ADS)

    Kotsidas, Panagiotis; Chatzi, Eleni; Modi, Vijay

    2010-08-01

    This paper presents a novel approach regarding the design of stationary, non imaging, refractive lenses with high acceptance angles. A lens lies on a stationary aperture and as the sun moves throughout the day, the concentrated focal spot is tracked by a moving solar cell. The purpose of this work is to replace the 2-axis tracking of the sun with internal motion of the miniaturized solar cell inside the module. We show families of linear lenses with wide acceptance angles 60. and 30. achieving moderate concentrations of 10 - 30 suns. The lens is designed with a variation of the simultaneous multiple surface (SMS) technique which is combined with a genetic algorithm to optimize the free variables of the problem.

  15. 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...

  16. 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...

  17. 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...

  18. 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...

  19. 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...

  20. 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...

  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 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...

  3. 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...

  4. 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...

  5. 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...

  6. 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...

  7. 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...

  8. 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...

  9. 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...

  10. 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...

  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. 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...

  13. 30 CFR 57.4561 - Stationary diesel equipment underground.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 30 Mineral Resources 1 2011-07-01 2011-07-01 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...

  14. 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...

  15. 30 CFR 57.4561 - Stationary diesel equipment underground.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 30 Mineral Resources 1 2013-07-01 2013-07-01 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...

  16. 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...) 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...

  17. 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...) 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...

  18. 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...) 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...

  19. 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...

  20. 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...) 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...

  1. 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...

  2. 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...

  3. Developments in lead/acid stationary batteries

    NASA Astrophysics Data System (ADS)

    Hosking, Don

    1993-05-01

    Valve-regulated designs of the lead/acid system are securing significant shares of the markets for stationary batteries. This paper discusses the major problems that have been encountered with the introduction of valve-generated technology. Areas that have provided particular difficulties include: (1) acid leakage (container-cover, post-seal and vent leaks); (2) adverse effects of ripple current; (3) variations in float voltage, and (4) initial value of recharge current.

  4. 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.

  5. 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.

  6. Height Fluctuations for the Stationary KPZ Equation

    NASA Astrophysics Data System (ADS)

    Borodin, Alexei; Corwin, Ivan; Ferrari, Patrik; Vető, Bálint

    2015-12-01

    We compute the one-point probability distribution for the stationary KPZ equation (i.e. initial data , for B( X) a two-sided standard Brownian motion) and show that as time T goes to infinity, the fluctuations of the height function grow like T 1/3 and converge to those previously encountered in the study of the stationary totally asymmetric simple exclusion process, polynuclear growth model and last passage percolation. The starting point for this work is our derivation of a Fredholm determinant formula for Macdonald processes which degenerates to a corresponding formula for Whittaker processes. We relate this to a polymer model which mixes the semi-discrete and log-gamma random polymers. A special case of this model has a limit to the KPZ equation with initial data given by a two-sided Brownian motion with drift ß to the left of the origin and b to the right of the origin. The Fredholm determinant has a limit for ß > b, and the case where ß = b (corresponding to the stationary initial data) follows from an analytic continuation argument.

  7. Is bilateral congenital anorchia genetically determined?

    PubMed

    Parigi, G B; Bardoni, B; Avoltini, V; Caputo, M A; Bragheri, R

    1999-10-01

    Bilateral congenital anorchia (BCA) can be defined as complete absence of testicular tissue in a patient with male normal phenotype and karyotype. On the basis of familial occurrences of BCA a possible genetic aetiology has been hypothesised, i.e. mutations of the SRY gene which initiates the genetic cascade leading to testis development in mammals. The aim of the study is to assess this hypothesis. Eight boys affected by BCA have been studied; a normal monozygotic twin of one of the patients, a boy and a girl acted as controls. A normal 46, XY karyotype was detected in all patients; 3 had hypoplasia of the scrotum and 2 of the penis. Hormonal data were available for 5 patients: Prader's stimulation test to HCG showed in all lack of testosterone response, and 4 out of 5 had elevated FSH and LH levels. Complete absence of testicular tissue was confirmed in all by surgical exploration. DNA was sampled by Jeanpierre modified extraction method and amplification by polymerase chain reaction. The expected segment of 750 basepairs of the SRY gene, included between the two oligonucleotide primers Xes 10 and Xes 11, was found in all patients. SRY gene is present in our BCA patients as well as in normal boys, and therefore BCA does not seem related to an anomaly of the opening reading frame sequence of the SRY gene. Nevertheless, familial occurrences of BCA continue to suggest a genetic aetiology: further studies must therefore evaluate the possibility of punctiform mutations of the SRY gene, by direct sequentiation, and exclude abnormalities in the critical region DSS/AHC of the X chromosome, recently discovered as one of the loci involved in the differentiation of the male gonad.

  8. Idiopathic congenital chylothorax treated with octreotide

    PubMed Central

    Sousa, Paulo Rego; Leitão, Henrique; Camacho, Maria Carmo; Nunes, José Luis

    2010-01-01

    Idiopathic congenital chylothorax is defined as an abnormal accumulation of lymphatic fluid within the pleural space and is a relatively rare condition. It is a cause of progressive respiratory distress with nutritional and immunological consequences. Treatment of congenital chylothorax has been conservative management and cases unresponsive usually require surgery. We report a case of idiopathic congenital chylothorax treated with octreotide (a somatostatin analogue), avoiding surgery after failed conservative medical treatment. The patient promptly improved after initiation of endovenous octreotide treatment (10 µg/kg/h) with no observed side effects. PMID:22750919

  9. Neonatal sludge: a finding of congenital hypothyroidism.

    PubMed

    Kurtoğlu, Selim; Coban, Dilek; Akın, Mustafa Ali; Akın, Leyla; Yıkılmaz, Ali

    2009-01-01

    Congenital hypothyroidism is one of the most urgent diseases of the neonate. When diagnosed and treated at an early stage, its most important complication, mental retardation, is preventable. The signs of congenital hypothyroidism are nonspecific in neonates. Only 5% of the cases have characteristic clinical findings. One of the most important and earliest signs is prolonged jaundice during the neonatal period. We report herein a case of congenital hypothyroidism, who presented with icterus accompanied with sludge formation into the gallbladder, which disappeared after treatment with L-thyroxine.

  10. Congenital epulis of the newborn.

    PubMed

    Kumar, R Mahesh; Bavle, Radhika M; Umashankar, D N; Sharma, Rashi

    2015-01-01

    Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day. PMID:26980979

  11. Critical congenital heart disease screening.

    PubMed

    Chamsi-Pasha, Mohammed A; Chamsi-Pasha, Hassan

    2016-01-01

    Critical congenital heart disease (CCHD) is a heart lesion for which neonates require early surgical intervention to survive. Without intervention, the rates of mortality and survival with significant disability are extremely high. Early diagnosis can potentially improve health outcomes in newborns with CCHD. Until recent years, no routine screening protocol existed. In the last few years, pulse oximetry screening for CCHD in newborns has been added to the list of recommended uniform screening panels and advocated by several health-care authorities. A positive screening test result warrants an echocardiogram to evaluate for CCHD. Newborn screens do not usually require parental consent. However, most of the states mandates in the United States include a statement allowing exemption from the screen on the basis of parental religious or personal beliefs. PMID:27390667

  12. Congenital duplication of the gallbladder.

    PubMed

    Safioleas, Michael C; Papavassiliou, Vassilios G; Moulakakis, Konstantinos G; Angouras, Dimitrios C; Skandalakis, Panagiotis

    2006-03-01

    Duplication of the gallbladder is a rare congenital anomaly of the biliary system. In this article, two cases of gallbladder duplication are presented. The first case is a patient with double gallbladder and concomitant choledocholithiasis. The probable diagnosis of double gallbladder was made preoperatively by computed tomography. The patient underwent a successful open cholecystectomy and common bile duct exploration. In the second case, two cystic formations in the place of gallbladder are demonstrated with ultrasound scan in a woman with acute cholecystitis. At surgery, two gallbladders were found. A brief review of epidemiology and anatomy of double gallbladder is included, along with a discussion of the difficulties in diagnosis and treatment of this condition.

  13. X-linked congenital retinoschisis.

    PubMed

    Kellner, U; Brümmer, S; Foerster, M H; Wessing, A

    1990-01-01

    The natural history and electrophysiological findings of 52 patients with X-linked congenital retinoschisis with a follow-up of up to 26 years are described. The mean visual acuity was reduced to 0.24 +/- 0.2 and remained unchanged in most patients during this time. If visual loss occurred, it usually happened in the first decennium. The complications were retinal detachments in 11% and vitreous hemorrhages in 4% of the eyes. In general, the vitreous hemorrhages resolved spontaneously. Retinal detachments were treated successfully with conventional buckling procedures. Redetachments occurred in about 40%. Prophylactic laser coagulation was of no use because it was complicated by detachment in 43% of our series. The electro-oculogram was usually normal. In addition to the known electrorentinographic findings of normal a-wave and reduced b-wave amplitudes, we found prolonged b-wave latencies and implicit times, as well as a reduced 30 Hz flicker response.

  14. Congenital lateral abdominal wall hernia.

    PubMed

    Montes-Tapia, Fernando; Cura-Esquivel, Idalia; Gutiérrez, Susana; Rodríguez-Balderrama, Isaías; de la O-Cavazos, Manuel

    2016-08-01

    Congenital abdominal wall defects that are located outside of the anterior wall are extremely rare and difficult to classify because there are no well accepted guidelines. There are two regions outside of the anterior wall: the flank or lateral wall; and the lumbar region. We report the case of a patient with an oval 3 cm-diameter hernia defect located above the anterior axillary line, which affects all layers of the muscular wall. An anorectal malformation consisting of a recto-vestibular fistula was also identified, and chest X-ray showed dextrocardia. The suggested treatment is repair of the defect before 1 year of age. Given that the anomalies described may accompany lateral abdominal wall hernia, it is important to diagnose and treat the associated defects.

  15. HLA typing in congenital toxoplasmosis.

    PubMed Central

    Meenken, C; Rothova, A; de Waal, L P; van der Horst, A R; Mesman, B J; Kijlstra, A

    1995-01-01

    HLA-A, HLA-B, HLA-C, and HLA-D typing was performed in 47 mothers of patients suffering from ocular toxoplasmosis to investigate whether an immunogenetic predisposition exists for developing congenital toxoplasmosis in their offspring. No significant association between any HLA antigen was observed in the mothers of patients with ocular toxoplasmosis, although a total absence of the HLA-B51 antigen was found in this group. HLA-A, HLA-B, and HLA-C typing was also performed in their children (52 patients with ocular toxoplasmosis), to investigate a possible relation between the severity of ocular toxoplasmosis and an eventual immunogenetic factor. In the patients with ocular toxoplasmosis an increased frequency of the HLA-Bw62 antigen was observed in correlation with severe ocular involvement. PMID:7612565

  16. Congenital epulis of the newborn

    PubMed Central

    Kumar, R Mahesh; Bavle, Radhika M; Umashankar, DN; Sharma, Rashi

    2015-01-01

    Congenital epulis, a benign tumor of the oral cavity, is an extremely rare condition in newborn. It may lead to mechanical obstruction, therefore resulting in respiratory distress and difficulty in feeding. Addressing the problem may need a multidisciplinary team approach at the time of birth. Antenatal ultrasonography and perinatal magnetic resonance imaging are an adjunct to treatment planning. Prenatal diagnosis remains difficult as the findings are nonspecific due to the late development of the tumor. Surgical excision is, therefore, the treatment of choice. Our report discusses this condition and the treatment thereafter on a newborn, with an epulis originating from the upper alveolar ridge discovered at birth. Histological examination confirmed the diagnosis of large polygonal granular cells. The mass was excised under general anesthesia, and the outcome was good after surgery allowing regular feeds on the second postoperative day. PMID:26980979

  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. Congenital craniofacial asymmetry: early treatment.

    PubMed

    Whitaker, L A; Schut, L; Rosen, H M

    1981-01-01

    Congenital craniofacial asymmetry has two dominant causes: isolated synostosis and craniofacial clefts. Treatment considerations in these problems differ from those with isolated cranial or isolated facial defects. Isolated cranial defects are most frequently treated by the neurosurgeon with craniectomy alone. Isolated facial asymmetry when congenital in origin usually manifests as hemifacial microsomia and based on our experience with 40 such patients, is best treated in later childhood. Treatment timing of craniofacial asymmetry varies with the cause, but is best done in the first two years of life. Nasofrontal encephaloceles are usually best treated in the first few weeks of life; synostosis syndromes are treated at six months of age after the facial sutures have had time to stabilize sufficiently for adequate dissection and mobilization; and other craniofacial clefts at approximately two years of age following descent of the teeth and better homeostatic capability of the patient. Based on our series of 58 patients, 40 treated with isolated synostosis at less than one year of age, eight at more than one year of age, and ten patients with craniofacial clefts, the guidelines for timing and methods of treatment have evolved. Liberal use of craniectomy bone with expected regrowth is possible in the first year of life, and more limited use in the second year of life. This bone is used to hold the repositioned orbit, augment hypoplastic zygomas, and reconstruct noses, or for other uses. In isolated synostosis, repositioning provides a form of immediate catch-up growth then proceeds normally. In craniofacial clefts, repositioning puts structures into normal relations and growth likewise proceeds normally. The isolated synostosis syndromes treated at a later age are done with more difficulty, though may be effectively cared for. Complications other than incomplete structural correction have been nonexistent in the group two years of age and less.

  19. 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.

  20. An uncommon congenital anomaly of the ribs

    PubMed Central

    Padmanabhan, Arjun; Zunimol, Mohamed Puthiyaveettil

    2016-01-01

    Intrathoracic rib is an extremely rare congenital anomaly of the ribs. Here, we present the case of a 10-year-old boy with asthma who, on routine evaluation, was found to have this anomaly. PMID:27051123

  1. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

    Antenatal diagnosis of lung lesion has become more accurate resulting in dilemma and controversies of its antenatal and postnatal management. Majority of antenatally diagnosed congenital lung lesions are asymptomatic in the neonatal age group. Large lung lesions cause respiratory compromise and inevitably require urgent investigations and surgery. The congenital lung lesion presenting with hydrops requires careful postnatal management of lung hypoplasia and persistent pulmonary hypertension. Preoperative stabilization with gentle ventilation with permissive hypercapnia and delayed surgery similar to congenital diaphragmatic hernia management has been shown to result in good outcome. The diagnostic investigations and surgical management of the asymptomatic lung lesions remain controversial. Postnatal management and outcome of congenital cystic lung lesions are discussed. PMID:26051048

  2. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomosis of the esophagus. COMMENTS The congenital esophageal stenosis is an intrinsic narrowing of the organâ€(tm)s wall associated with its structural malformation. The condition can be caused by tracheobronchial remnants, fibromuscular stenosis or membranous diaphragm and the first symptom is dysphagia after the introduction of solid food in the diet. The first-choice treatment to tracheobronchial remnants cases is the surgical resection and end-to-end anastomosis of the esophagus. PMID:24142326

  3. Genetics Home Reference: congenital generalized lipodystrophy

    MedlinePlus

    ... an abnormal heart rhythm (arrhythmia) that can cause sudden death. People with congenital generalized lipodystrophy have a distinctive ... stenosis), and severe arrhythmia that can lead to sudden death. Related Information What does it mean if a ...

  4. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86. ... Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir ...

  5. Missed congenital hypothyroidism in an identical twin.

    PubMed

    Azam, Anita; Cutfield, Wayne; Mouat, Fran; Hofman, Paul L; Jefferies, Craig; Webster, Dianne; Gunn, Alistair Jan

    2012-10-01

    Newborn screening for congenital hypothyroidism has been remarkably effective, although rare cases of false negative screening have been reported in same sex twins, presumptively due to fetal blood exchange. We report a case in which the diagnosis of congenital hypothyroidism due to thyroid ectopia in a monozygotic twin was delayed by 8 months, with a normal newborn screening TSH level of 11 mIU/L blood (normal < 15 mIU/L) at 2 days of life. This is the first such case since the national New Zealand newborn screening programme introduced screening for congenital hypothyroidism in 1981 (30 years ago). Repeating thyroid studies at 14 days of age in same-sex twins has been advocated to avoid delayed diagnosis, but given the low risk, may not be cost effective. It is important to maintain a high index of suspicion in same-sex twin pregnancies of potential congenital hypothyroidism. PMID:22970836

  6. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... and walking. Fukuyama congenital muscular dystrophy also impairs brain development. People with this condition have a brain abnormality ... cobblestones). These changes in the structure of the brain lead to significantly delayed development of speech and motor skills and moderate to ...

  7. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an ... isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in ...

  8. Living with a Congenital Heart Defect

    MedlinePlus

    ... well the heart’s chambers and valves are working. Health Insurance and Employment Adults who have congenital heart defects ... carefully consider how changing jobs will affect their health insurance coverage. Some health plans have waiting periods or ...

  9. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected. People with congenital ... movement. Normally, signals from each half of the brain control movements on the opposite side of the ...

  10. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  11. Genetics Home Reference: congenital diaphragmatic hernia

    MedlinePlus

    ... Center: Congenital Diaphragmatic Hernia University of Michigan Health System These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: Diagnostic Tests Drug Therapy ...

  12. The "harlequin" sign and congenital Horner's syndrome.

    PubMed Central

    Morrison, D A; Bibby, K; Woodruff, G

    1997-01-01

    When trying to establish the likely anatomical site (preganglionic or postganglionic) of a lesion causing congenital Horner's syndrome, the distribution of facial flushing (the "harlequin" sign), may be seen. In babies and young children, facial flushing is a relatively simple clinical sign to demonstrate, compared with facial sweating. In unilateral facial flushing the areas that do not flush are almost always identical to the anhidrotic areas. However, neither facial flushing nor testing the pupil reactions with pholedrine or hydroxyamphetamine can be relied on to predict the probable site of any lesion causing congenital Horner's syndrome. Two patients with congenital Horner's syndrome are presented which demonstrated the "harlequin" sign and in whom clinical examination and pharmacological testing gave conflicting evidence for localisation of the site of the causative lesion. The presentation of congenital Horner's syndrome should be investigated and include MRI or CT to exclude a serious underlying cause. Images PMID:9219751

  13. Interventional treatment of congenital heart disease patients.

    PubMed

    Marini, D; Agnoletti, G

    2010-02-01

    During the last 10 years the interventional treatment of congenital and structural heart diseases has known enormous changes in techniques, methods and patients management. Lesions previously treated surgically are now approached in the catheterization laboratory. The advent of multidisciplinary approach of congenital heart disease has made possible the development of hybrid techniques, of fetal medicine and of magnetic resonance imaging (MRI)- guided cardiac catheterization. Technological innovation has introduced new concepts in treatment of congenital heart disease patients and has allowed to adapt different techniques to single patients. The knowledge of the evolution of structural heart disease has allowed to chose the best percutaneous and/ or surgical technique and the best materials to optimize long term results. Improvement in non invasive imaging modality has allowed to diminish the radiation exposure and to provide useful information to interventional cardiologists and cardiac surgeons. Absorbable, drug eluting tools will change the treatment and probably the natural history of congenital and structural cardiac and vascular diseases.

  14. Congenital extrahepatic portosystemic shunt complicated by the development of hepatocellular carcinoma.

    PubMed

    Sharma, Ruchi; Suddle, Abid; Quaglia, Alberto; Peddu, Praveen; Karani, John; Satyadas, Thomas; Heaton, Nigel

    2015-10-01

    Congenital extrahepatic portosystemic shunt, also known as Abernethy malformation, is a rare congenital malformation. It causes shunting of blood through a communication between the portal and systemic veins such as a patent ductus venous. We report 3 cases of Abernethy malformation complicated by the development of hepatocellular carcinoma. Additionally, we comprehensively reviewed all previously reported cases and highlighted common features that may help in early diagnosis and appropriate management. Patients with Abernethy malformation may have an increased propensity to develop hepatocellular carcinoma. All 5 previously reported cases, plus the three of our patients, have a type 1 (complete) shunt suggesting a role for absent portal blood flow in the pathogenesis of hepatocellular carcinoma. Congenital extrahepatic portosystemic shunt should be sought for in cases with raised serum ammonia, hepatic encephalopathy or hepatocellular carcinoma in the absence of cirrhosis. PMID:26459734

  15. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  16. Functional Assessment for Congenital Heart Disease

    PubMed Central

    2014-01-01

    Significant improvement in survival of children with congenital cardiac malformations has resulted in an increasing population of adolescent and adult patients with congenital heart disease. Of the long-term cardiac problems, ventricular dysfunction remains an important issue of concern. Despite corrective or palliative repair of congenital heart lesions, the right ventricle, which may be the subpulmonary or systemic ventricular chamber, and the functional single ventricle are particularly vulnerable to functional impairment. Regular assessment of cardiac function constitutes an important aspect in the long-term follow up of patients with congenital heart disease. Echocardiography remains the most useful imaging modality for longitudinal monitoring of cardiac function. Conventional echocardiographic assessment has focused primarily on quantification of changes in ventricular size and blood flow velocities during the cardiac cycles. Advances in echocardiographic technologies including tissue Doppler imaging and speckle tracking echocardiography have enabled direct interrogation of myocardial deformation. In this review, the issues of ventricular dysfunction in congenital heart disease, conventional echocardiographic and novel myocardial deformation imaging techniques, and clinical applications of these techniques in the functional assessment of congenital heart disease are discussed. PMID:24653734

  17. 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.

  18. Thermoelectric Generator for a Stationary Diesel Plant

    NASA Astrophysics Data System (ADS)

    Anatychuk, L. I.; Rozver, Yu. Yu.; Velichuk, D. D.

    2011-05-01

    This paper describes the development and testing of a thermoelectric generator (TEG) using the exhaust heat of a 50-kW stationary diesel power plant. The generator consists of six units that represent primary generators for each diesel engine cylinder. Each primary generator comprises five sections with gas heat exchangers, thermoelectric modules, and liquid heat exchangers. The sections were optimized for the exhaust gas operating temperatures. The generator electric power was 2.1 kW at rated power of 2.2 kW, corresponding to 4.4% of the diesel plant electric power.

  19. 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.

  20. Stationary one-dimensional dispersive shock waves.

    PubMed

    Kartashov, Yaroslav V; Kamchatnov, Anatoly M

    2012-02-01

    We address shock waves generated upon the interaction of tilted plane waves with negative refractive index defects in defocusing media with linear gain and two-photon absorption. We found that, in contrast to conservative media where one-dimensional dispersive shock waves usually exist only as nonstationary objects expanding away from a defect or generating beam, the competition between gain and two-photon absorption in a dissipative medium results in the formation of localized stationary dispersive shock waves, whose transverse extent may considerably exceed that of the refractive index defect. One-dimensional dispersive shock waves are stable if the defect strength does not exceed a certain critical value.

  1. The Development of Perceptual Completion Abilities: Infants' Perception of Stationary, Partially Occluded Objects.

    ERIC Educational Resources Information Center

    Craton, Lincoln G.

    1996-01-01

    In three studies of infants' ability to perceive partially occluded objects with specific appearances, a screen alternately uncovered and covered either a connected or interrupted rectangle. Pattern of infants' looking times suggests that they perceive the unity of the partially occluded object by 6.5 months but did not perceive the form of the…

  2. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    PubMed Central

    2012-01-01

    Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology. PMID:22731118

  3. 77 FR 52553 - Standards of Performance for Stationary Gas Turbines; Standards of Performance for Stationary...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-29

    ... or reconstruction is commenced after February 18, 2005 (71 FR 38482). The new standards in subpart... FR 52798). The new standards also reflect the use of lower sulfur fuels. A petition for... gases to generate electricity in stationary combustion turbines (see 74 FR 11858, March 20, 2009)....

  4. 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.

  5. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-01

    From the clinical and genetic point of view, congenital muscular dystrophies (CMD) are a heterogenic group of diseases within neuromuscular pathologies. The best known forms are: merosin deficiency CMD, collagen VI deficiency CMD, LMNA-related CMD, selenoprotein-related CMD (SEPN1) and alpha-dystroglycan-related CMD. They present with a broad spectrum of clinical phenotypes. Most of them are transmitted by recessive autosomal inheritance. The initial manifestations very often begin in infancy or in the neonatal period. There are clinical suspicions of the existence of hypotonia and paresis, and they are characterised by a dystrophic pattern in the muscular biopsy (muscle replaced by fibroadipose tissue, with necrosis and cell regeneration). Advances in the understanding of the molecular pathogenesis of CMD have made it possible to make further progress in the classification of the different subtypes. The aim of this review is to comment on the advances made in recent years as regards the classification of CMD in terms of genetics, the proteins involved and their clinical presentation.

  6. Symptoms of autism among children with congenital deafblindness.

    PubMed

    Dammeyer, Jesper

    2014-05-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism. PMID:24127166

  7. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

    Background Congenital malaria has been considered a rare event; however, recent reports have shown frequencies ranging from 3% to 54.2% among newborns of mothers who had suffered malaria during pregnancy. There are only a few references concerning the epidemiological impact of this entity in Latin-America and Colombia. Objective The aim of the study was to measure the prevalence of congenital malaria in an endemic Colombian region and to determine some of its characteristics. Methods A prospective, descriptive study was carried out in the mothers who suffered malaria during pregnancy and their newborns. Neonates were clinically evaluated at birth and screened for Plasmodium spp. infection by thick smear from the umbilical cord and peripheral blood, and followed-up weekly during the first 21 days of postnatal life through clinical examinations and thick smears. Results 116 newborns were included in the study and 80 umbilical cord samples were obtained. Five cases of congenital infection were identified (four caused by P. vivax and one by P. falciparum), two in umbilical cord blood and three in newborn peripheral blood. One case was diagnosed at birth and the others during follow-up. Prevalence of congenital infection was 4.3%. One of the infected newborns was severely ill, while the others were asymptomatic and apparently healthy. The mothers of the newborns with congenital malaria had been diagnosed with malaria in the last trimester of pregnancy or during delivery, and also presented placental infection. Conclusions Congenital malaria may be a frequent event in newborns of mothers who have suffered malaria during pregnancy in Colombia. An association was found between congenital malaria and the diagnosis of malaria in the mother during the last trimester of pregnancy or during delivery, and the presence of placental infection. PMID:21846373

  8. 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.

  9. 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.

  10. Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player

    PubMed Central

    Chung, Ill-Min; Rajakumar, Govindasamy

    2016-01-01

    Congenital heart defects (CHDs) represent the biggest fraction of morbid congenital anomalies worldwide. Owing to their complex inheritance patterns and multifactorial etiologies, these defects are difficult to identify before complete manifestation. Research over the past two decades has established firmly the role of genetics in the development of these congenital defects. While syndromic CHDs are more straightforward, non-syndromic CHDs are usually characterized by multiple mutations that affect intricate inter-connected developmental pathways. Knock-out and gene expression studies in mice and other genetic models have been performed to elucidate the roles of these implicated genes. Functional analysis has not been able to resolve the complete picture, as increasingly more downstream effects are continuously being assigned to CHD mutant factors. NKX2-5, a cardiac transcription factor, has received much attention for its role in cardiac dysmorphogenesis. Approximately 50 different mutations in this gene have been identified to date, and only a few have been functionally characterized. The mutant NKX2-5 factor can regulate a number of off-targets downstream to facilitate CHD development. This review summarizes the genetic etiology of congenital heart defects and emphasizes the need for NKX2-5 mutation screening. PMID:26805889

  11. 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.

  12. [Congenital heart disease in Mexico. Regionalization proposal].

    PubMed

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge Luis; Curi-Curi, Pedro José; Ramírez-Marroquín, Samuel

    2010-01-01

    Congenital cardiopathies are the most frequent congenital malformations. Reports of its prevalence around the world range from 2.1 to 12.3 for every 1000 newborns. Prevalence in our country remains unknown, but it probably occupies sixth place for mortality in infants less than a year old, and third place for mortality in those aged between 1 and 4 years. Based on birthrate, it is calculated that 10 to 12 000 infants in our country have some cardiac malformation. To understand the magnitude of the problem, it is important to identify the global number of newborns with some congenital cardiopathy each year and the type of malformation that they have, in order to determine the necessary resources and to plan their distribution. The main objective of regionalization is the justification of the resources with an emphasis in the specialized medical services to provide the best results for the patients. Hence, reason, based on the resources of each state, as well as their natality and infant mortality rates related to congenital cardiovascular pathology, we should proceed to regionalize the attention, and to simultaneously create a trustworthy database of the congenital cardiopathies. This should have many benefits, such as increase the number of total attended cases, improve the quality of attention, use appropriately the existent resources, and -surely- decrease the infant mortality.

  13. Congenital scoliosis: an up-to-date.

    PubMed

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  14. [Congenital heart disease, heterotaxia and laterality].

    PubMed

    Icardo, José Manuel; García Rincón, Juan Manuel; Ros, María Angeles

    2002-09-01

    Congenital heart disease occurs in about 0,8% of all newborns. Many cardiac malformations occur among relatives and have a polymorphic presentation. The origin of most congenital heart disease is thought to be multifactorial, implying both anomalous expression of genes and the influence of epigenetic factors. However, in a small number of cases, the origin of congenital heart disease has been directly related to chromosomal anomalies or to defects in a single gene. Curiously, defects in a single gene can explain a polymorphic presentation if the anomalous gene controls a basic embryonic process that affects different organs in time and space. Some of these genes appear to control the establishment of laterality. The establishment of the left-right asymmetry starts at the Hensen node. Here, the initial embryonic symmetry is broken by cascades of gene activation that confer specific properties on the left and right sides of the embryo. Although there are variations between species, some basic patterns of gene expression (Nodal, Pitx2) appear to be maintained along the phylogenetic scale. Anomalous expression of these genes induces the heterotaxia syndrome, which usually courses with congenital heart disease. The development of heart malformations is illustrated with the mouse mutant iv/iv, which is a model for the heterotaxia syndrome and the associated congenital heart disease.

  15. Genetic Syndromes associated with Congenital Heart Disease

    PubMed Central

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease. PMID:26413101

  16. Complete tubular duplication of colon in an adult: a rare cause of colovaginal fistula

    PubMed Central

    Jung, Hae Il; Lee, Hyoung Uk; Ahn, Tae Sung; Lee, Jong Eun; Lee, Hyun Yong; Mun, Seong Taek; Baek, Moo-Jun

    2016-01-01

    Alimentary tract duplications are uncommon congenital anomalies that usually present during the first decade of life. Complete duplication of the colon in adults is very rare and difficult to diagnose preoperatively. We report a case of a 40-year-old female with complete tubular duplication which was initially misdiagnosed as a salpingeal abscess due to colovaginal fistula. PMID:27757399

  17. Newborn screening for congenital hypothyroidism.

    PubMed

    Büyükgebiz, Atilla

    2006-11-01

    Most neonates born with congenital hypothyroidism (CH) have normal appearance and no detectable physical signs. Hypothyroidism in the newborn period is almost always overlooked and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Blood spot T4 or TSH or both can be used in neonatal screening for CH. The latter, which is more sensitive, is not cost effective, so the first two are used in different programs in the world. TSH screening was shown to be more specific in the diagnosis of CH; T4 screening is more sensitive in detecting newborns especially with rare hypothalamic-pituitary hypothyroidism, but less specific with a high frequency of false positives mainly in low birth weight and premature infants. The time at which the sample is taken may vary between centers, with the majority taking blood from a heel prick after 24 hours of age to minimize the false positive high TSH due to the physiological neonatal TSH surge that elevates TSH levels and causes dynamic T4 and T3 changes in the first 1 or 2 days after birth. Early discharge of mothers postpartum has increased the ratio of false positive TSH elevations. Although transient hypothyroidism may occur frequently, all suspected infants should be treated as having CH for the first 3 years of life, taking into account the risks of mental retardation. A reevaluation after 3 years is needed in such patients. The goal of initial therapy in CH is to minimize neonatal central nervous system exposure to hypothyroidism by normalizing thyroid function, as reflected by T4 and TSH levels, as rapidly as possible. Iodine deficiency is the most important cause of CH worldwide. Iodine is essential for thyroid hormone synthesis and is present in soil, water and air. Prevention of iodine deficiency can be by iodized salt, iodized oil, iodized bread or iodine tablets. PMID:17220056

  18. 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

  19. 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

  20. Maximal hypersurfaces in asymptotically stationary spacetimes

    NASA Astrophysics Data System (ADS)

    Chrusciel, Piotr T.; Wald, Robert M.

    1992-12-01

    The purpose of the work is to extend the results on the existence of maximal hypersurfaces to encompass some situations considered by other authors. The existence of maximal hypersurface in asymptotically stationary spacetimes is proven. Existence of maximal surface and of foliations by maximal hypersurfaces is proven in two classes of asymptotically flat spacetimes which possess a one parameter group of isometries whose orbits are timelike 'near infinity'. The first class consists of strongly causal asymptotically flat spacetimes which contain no 'blackhole or white hole' (but may contain 'ergoregions' where the Killing orbits fail to be timelike). The second class of space times possess a black hole and a white hole, with the black and white hole horizon intersecting in a compact 2-surface S.

  1. 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.

  2. Non stationary pair model in blazar

    NASA Astrophysics Data System (ADS)

    Marcowith, Alexandre; Henri, Gilles; Renaud, Nicolas

    2001-09-01

    This article shortly present an improved version of pair models for X and gamma-ray emission from blazar jets. The radiations are generated through external and synchrotron Inverse Compton mechanisms in the vicinity of a super-massive black hole by an ultra-relativistic electron-positron pair plasma pervading a non-relativistic electron-proton jet (two-flow model). Non stationary solutions are found by solving simultaneously pair creation/annihilation, soft photon absorption and particle acceleration processes along the jet. The power supply necessary to re-accelerate particles is not treated in a self-consistent procedure but parametrised. Pair creation opacity effects can lead to interesting variability effects depending on the X-ray emission regimes. Multi-wavelength observations by INTEGRAL will provide tests for the model, and also for the matter content and variability mechanisms in compact sources.

  3. Stationary turbine component with laminated skin

    DOEpatents

    James, Allister W.

    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.

  4. Stationary Plasma Thruster Ion Velocity Distribution

    NASA Technical Reports Server (NTRS)

    Manzella, David H.

    1994-01-01

    A nonintrusive velocity diagnostic based on laser induced fluorescence of the 5d4F(5/2)-6p4D(5/2) singly ionized xenon transition was used to interrogate the exhaust of a 1.5 kW Stationary Plasma Thruster (SPT). A detailed map of plume velocity vectors was obtained using a simplified, cost-effective, nonintrusive, semiconductor laser based scheme. Circumferential velocities on the order of 250 m/s were measured which implied induced momentum torques of approximately 5 x 10(exp -2) N-cm. Axial and radial velocities were evaluated one mm downstream of the cathode at several locations across the width of the annular acceleration channel. Radial velocities varied linearly with radial distance. A maximum radial velocity of 7500 m/s was measured 8 mm from the center of the channel. Axial velocities as large as 16,500 m/s were measured.

  5. 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.

  6. Magnetohydrodynamic flows sustaining stationary magnetic nulls

    NASA Astrophysics Data System (ADS)

    Titov, Vyacheslav S.; Hornig, Gunnar

    2000-09-01

    Exact solutions of the resistive magnetohydrodynamic equations are derived which describe a stationary incompressible flow near a generic null point of a three-dimensional magnetic field. The properties of the solutions depend on the topological skeleton of the corresponding magnetic field. This skeleton is formed by one-dimensional and two-dimensional invariant manifolds (so-called spine line and fan plane) of the magnetic field. It is shown that configurations of generic null points may always be sustained by stationary field-aligned flows of the stagnation type, where the null points of the magnetic and velocity fields have the same location. However, if the absolute value |j∥| of the current density component parallel to the spine line exceeds a critical value jc, the solution is not unique—there is a second nontrivial solution describing spiral flows with the stagnation point at the magnetic null. The characteristic feature of these new flows is that they cross magnetic field lines but they do not cross the corresponding spine and fan of the magnetic null. Therefore these are nonideal but nonreconnecting flows. The critical value |j∥|=jc coincides exactly with a threshold separating the topological distinct improper radial and spiral nulls. It is shown that this is not an accidental coincidence: the spiral field-crossing flows of the considered type are possible only due to the topological equivalence of the field lines forming the fan plane of the spiral magnetic null. The explicit expression for the pressure distribution of the solution is given and its iso-surfaces are found to be always ellipsoidal for the field-aligned flows, while for the field-crossing flows there are also cases with a hyperboloidal structure.

  7. 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.

  8. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

    The authors discuss the incidence of impairments diagnosed among children with congenital rubella syndrome. Approximately 73 percent are hearing impaired, at least 35 percent have congenital heart disorders, and 33 percent have visual defects. (Author)

  9. Congenital camptodactyly associated with the 48,XXYY syndrome.

    PubMed

    Bosch, A M; Hack, W W; Schrander-Stumpel, C T

    1998-01-01

    A male premature infant presented with slow development and congenital camptodactyly of both hands. Chromosome analysis showed a 48,XXYY karyotype. As far as we know, this is the first report describing congenital camptodactyly associated with the 48,XXYY syndrome.

  10. Neonatal hypoglycemia caused by hypopituitarism in infants with congenital syphilis.

    PubMed

    Daaboul, J J; Kartchner, W; Jones, K L

    1993-12-01

    Two infants with congenital syphilis and persistent hypoglycemia were found to have hypopituitarism. Hypopituitarism should be recognized as a potential complication of congenital syphilis; affected infants with persistent hypoglycemia should receive a prompt evaluation of pituitary function.

  11. Genetics Home Reference: congenital bile acid synthesis defect type 1

    MedlinePlus

    ... bile acid synthesis defect type 1 congenital bile acid synthesis defect type 1 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 1 is a disorder characterized ...

  12. Genetics Home Reference: congenital bile acid synthesis defect type 2

    MedlinePlus

    ... bile acid synthesis defect type 2 congenital bile acid synthesis defect type 2 Enable Javascript to view ... PDF Open All Close All Description Congenital bile acid synthesis defect type 2 is a disorder characterized ...

  13. Complete Denture in a Microstomia Patient

    PubMed Central

    Gujjari, Anil K.

    2015-01-01

    Microstomia is the term used to describe a condition of reduction in the size of oral aperture which can be either acquired or congenital and affects the quality of life. Dentists occasionally come across patients with constricted oral openings. Limited oral opening makes access to the oral cavity for any dental procedure difficult. It’s the duty of a dentist to provide every possible care to the patient with microstomia. This paper describes the treatment of a microstomia patient requiring complete dentures using sectional dentures. The cause of microstomia in the indexed patient was developmental in nature as all other causes of related conditions were ruled out. Finally upper and lower complete denture with sectional components were given to the patient after modification in conventional steps of its construction. PMID:26155580

  14. Assessing potential divers with a history of congenital heart disease.

    PubMed

    Turner, Mark S

    2015-06-01

    This article describes a structured approach to assessing the medical fitness of potential divers who have a history of congenital heart disease. The importance of a complete and accurate cardiac history, including details of surgery and other interventions is emphasized. Specific assessment of intracardiac shunts, exercise capacity and ability to deal with the physical challenge of diving, risk of diving-included pulmonary oedema, of arrhythmia and of incapacity in case of arrhythmia and the consequences of surgical and catheter treatment are discussed, including the risks associated with lung injury and the pressure limitations of implanted devices like pacemakers. Clinical assessment will usually include echocardiography and exercise testing with additional investigations such as MRI scanning, CT of heart or lungs, cardiopulmonary exercise testing and ECG monitoring, as required. Examples of different congenital lesions are given applying this approach (atrial septal defect, tetralogy of Fallot, bicuspid aortic valve and the Fontan circulation). The approach is based on an individual cardiologist's opinion and is not specifically evidence-based, but seeks to apply what is known in other areas of diving medicine to this potentially complex group of patients. PMID:26271135

  15. Autoimmune congenital heart block: complex and unusual situations.

    PubMed

    Brito-Zerón, P; Izmirly, P M; Ramos-Casals, M; Buyon, J P; Khamashta, M A

    2016-02-01

    Autoimmune congenital heart block (ACHB) is an immune-mediated cardiac disease included among the manifestations collectively referred to as neonatal lupus. The placental transference of maternal Ro/La autoantibodies may damage the conduction tissues during fetal development leading to blocking of signal conduction at the atrioventricular (AV) node in an otherwise structurally normal heart. Irreversible complete AV block is the main cardiac manifestation of ACHB, but some babies may develop endocardial fibroelastosis, valvular insufficiency, and/or frank cardiomyopathies with significantly reduced cardiac function requiring transplant. The severity of ACHB is illustrated by a global mortality rate of 20% and pacemaker rates of at least 64%, often within the first year of life. This review analyses the main complex and/or unusual clinical situations associated with ACHB, including unusual maternal immunological profiles, infrequent maternal autoimmune diseases, cardiac damage unrelated to AV block, fetal invasive management, late complications after birth, risk of congenital heart block (CHB) in ovodonation and in vitro fertilization techniques, the role of maternal features other than autoimmunity, the influence of the birth order or the risk of CHB in twins and triplets. PMID:26762645

  16. Transcatheter coil embolization of multiple bilateral congenital coronary artery fistulae.

    PubMed

    Iglesias, Juan F; Thai, Hoa Tran; Kabir, Tito; Roguelov, Christan; Eeckhout, Eric

    2010-03-01

    Coronary artery fistulae represent the most frequent congenital anomalies of the coronary arteries, but remain a relatively uncommon clinical problem. Moreover, multiple fistulae originating from both the left and the right coronary arteries and draining into the left ventricular chamber are a rare condition. Due to the low prevalence of these anomalies, the appropriate management of patients with symptomatic coronary artery fistulae is controversial. Transcatheter closure approaches have emerged as a less invasive strategy and are nowadays considered a valuable alternative to surgical correction with similar effectiveness, morbidity and mortality. The percutaneous management, however, is mainly limited by the individual anatomic features of the fistula and an appropriate patient's selection is considered as a key determining factor to achieve complete occlusion. Thus, success rates of transcatheter closure techniques reported in the literature are extremely variable and highly dependent upon the nature of the follow up, which, at present, is not standardized. The optimal management of symptomatic patients with multiple coronary artery fistulae still remains a challenging problem and has been traditionally considered as an indication for cardiac surgery. We report here the case of a patient with double bilateral congenital coronary artery fistulae arising from both the left and right coronary arteries and draining individually into the left ventricular chamber. This patient underwent successful transcatheter anterograde closure of both fistulae using a microcoil embolization technique.

  17. A resurgence of congenital rubella in Australia?

    PubMed

    Forrest, Jill M; Burgess, Margaret; Donovan, Tim

    2003-01-01

    Two infants with congenital rubella defects (congenital rubella syndrome) have been reported from Queensland in 2003, after an increase in rubella in that State in 2001-2002. The national Measles Control Campaign in 1998 aimed to give measles-mumps-rubella (MMR) vaccine to all unvaccinated preschoolers and a second dose to primary schoolchildren. Following the Campaign no children with congenital rubella defects were born to Australian-born mothers during the five years 1998 to 2002, according to reports to the Australian Paediatric Surveillance Unit. However, three imported cases occurred. Broad immunisation coverage and detection and vaccination of susceptible women of child-bearing age before they become pregnant are necessary to prevent further cases.

  18. Congenital myopathies: clinical and immunohistochemical study.

    PubMed

    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

    Congenital myopathies (CMs), a group of relatively non-progressive disorders presents with weakness and hypotonia of varying severity, morphologically recognized by specific structural abnormalities within the myofiber. This report presents the clinical and Histopathological features of 40 patients with CMs. Centronuclear myopathy was the commonest (40%) followed by congenital fiber type disproportion (37.5%). Other less common CMs included: myotubular myopathy (5%), nemaline myopathy (5%), central core disease (5%), multicore disease (2.5%) and congenital myopathy with tubular aggregate (5%). Immunolabeling to desmin corresponded to morphological changes within the myofibers while vimentin was negative in all the patients. There is no combined role of these proteins in the disease process. PMID:22234203

  19. Congenital hypotonia: clinical and developmental assessment.

    PubMed

    Harris, Susan R

    2008-12-01

    Identifying the underlying cause of congenital hypotonia remains difficult, despite advances in diagnostic laboratory and imaging techniques. Clinical evaluation strategies and standardized developmental tests can assist in differentiating hypotonia resulting from primary involvement of the upper motoneuron (central hypotonia) versus that involving the lower motoneuron and motor unit (peripheral hypotonia). This is especially important in infants with idiopathic hypotonia. This review outlines and describes the components of the clinical assessment: detailed infant and family history, clinical techniques and characteristics for differentiating hypotonia of central versus peripheral origin, and clinical evaluation (muscle tone, primitive reflexes, deep tendon reflexes, etc). Recent research that has contributed to the differential diagnosis of congenital hypotonia is reviewed and directions for future research are provided. Ideally, the assessment of infants with congenital hypotonia is best accomplished by an interdisciplinary team of developmental specialists including pediatricians, medical geneticists, child neurologists, and physical or occupational therapists. PMID:19046184

  20. Congenital cholesteatoma: delayed diagnosis and its consequences.

    PubMed

    Goh, B S; Faizah, A R; Salina, H; Asma, A; Saim, L

    2010-09-01

    This is a retrospective review of congenital cholesteatoma cases that were managed surgically. There were 5 cases. The age of presentation ranged from 5 to 18 year old. Three patients presented with complication of the disease. Three patients had intact tympanic membrane, two had perforation at the anterior superior quadrant. All patients had cholesteatoma medial to tympanic membrane. Four cases had extensive ossicular erosion with preoperative hearing worse than 40 dB. Four cases underwent canal wall down mastoid surgery and one underwent canal wall up surgery. One patient had recurrence which required revision surgery. In conclusion, congenital cholesteatoma presented late due to the silent nature of disease in its early stage. Extensive disease, ossicular destruction with risk of complication at presentation were marked in our study. Hence, more aggressive surgical intervention is recommended in the management of congenital cholesteatoma. PMID:21939167

  1. Congenital Malaria due to Plasmodium Vivax Infection in a Neonate.

    PubMed

    Bhatia, Ravi; Rajwaniya, Dinesh; Agrawal, Priti

    2016-01-01

    Although malaria is endemic in India, congenital malaria is not very common. Congenital malaria is a very rare condition in both endemic and nonendemic areas. We report a case of congenital malaria in a six-day-old neonate with fever and splenomegaly. The diagnosis was picked up accidentally on a peripheral smear examination. Congenital malaria should be kept as differential diagnosis of neonatal sepsis. Timely detection of this condition could lead to early diagnosis and treatment, thereby preventing neonatal mortality. PMID:27651968

  2. Congenital skull defect and neurofibroma: without scalp and other abnormalities.

    PubMed

    Wang, Jie-Cong; Wei, Liu; Xu, Jia; Liu, Jian-Feng; Gui, Lai

    2012-07-01

    Congenital skull defect is a rare malformation that is usually associated with congenital anomalies of the scalp and comparable lesions in the brain, spinal cord, limbs, and skeletal muscle. Most previously reported cases have described skull defects with aplasia cutis congenita and other congenital abnormalities. Very few patients with skull defects present with an intact scalp or neurofibroma. The authors report an adult patient with a rare congenital skull defect and local neurofibroma.

  3. Congenital Malaria due to Plasmodium Vivax Infection in a Neonate

    PubMed Central

    Rajwaniya, Dinesh; Agrawal, Priti

    2016-01-01

    Although malaria is endemic in India, congenital malaria is not very common. Congenital malaria is a very rare condition in both endemic and nonendemic areas. We report a case of congenital malaria in a six-day-old neonate with fever and splenomegaly. The diagnosis was picked up accidentally on a peripheral smear examination. Congenital malaria should be kept as differential diagnosis of neonatal sepsis. Timely detection of this condition could lead to early diagnosis and treatment, thereby preventing neonatal mortality.

  4. Congenital Malaria due to Plasmodium Vivax Infection in a Neonate

    PubMed Central

    Rajwaniya, Dinesh; Agrawal, Priti

    2016-01-01

    Although malaria is endemic in India, congenital malaria is not very common. Congenital malaria is a very rare condition in both endemic and nonendemic areas. We report a case of congenital malaria in a six-day-old neonate with fever and splenomegaly. The diagnosis was picked up accidentally on a peripheral smear examination. Congenital malaria should be kept as differential diagnosis of neonatal sepsis. Timely detection of this condition could lead to early diagnosis and treatment, thereby preventing neonatal mortality. PMID:27651968

  5. Epidemiology of congenital heart disease in Brazil

    PubMed Central

    Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

    2015-01-01

    Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

  6. Stationary and non-stationary autoregressive processes with external inputs for predicting trends in water quality.

    PubMed

    Pinault, Jean Louis; Dubus, Igor G

    2008-08-20

    An autoregressive approach for the prediction of water quality trends in systems subject to varying meteorological conditions and short observation periods is discussed. Under these conditions, the dynamics of the system can be reliably forecast, provided their internal processes are understood and characterized independently of the external inputs. A methodology based on stationary and non-stationary autoregressive processes with external inputs (ARX) is proposed to assess and predict trends in hydrosystems which are at risk of contamination by organic and inorganic pollutants, such as pesticides or nutrients. The procedures are exemplified for the transport of atrazine and its main metabolite deethylatrazine in a small agricultural catchment in France. The approach is expected to be of particular value to assess current and future trends in water quality as part of the European Water Framework Directive and Groundwater Directives.

  7. Congenital and acquired bleeding disorders in infancy.

    PubMed

    Campbell, Sally Elizabeth; Bolton-Maggs, Paula H B

    2015-11-01

    The diagnosis of congenital and acquired bleeding disorders in infants requires an understanding of developmental haemostasis and the effect on laboratory testing. A systematic approach to bleeding in neonates will aid clinicians in the diagnosis and treatment, which may be caused by a wide variety of diseases. The clinical setting will help to direct the diagnostic pathway. This review will focus on the presentation and diagnosis of congenital and acquired bleeding disorders, including platelet disorders. Current research in this field is ongoing, including investigation into neonatal platelets and their different functionalities, platelet transfusion thresholds and how changes in coagulation factors may be linked to other homeostatic mechanisms.

  8. [Congenital anophthalmias: a case of trisomy 13].

    PubMed

    Kouassi, F X; Koffi, K V; Safede, K; Cochard, C; Cochener, B

    2006-04-01

    Congenital anophthalmia is the result of a lack of development or regression of the primary optic vesicle in utero. It can be isolated or associated with other malformations and can be unilateral or, rarely, bilateral. Different etiologies are usually found such as chromosomal aberrations, gene mutations, toxic agents, and infections. We report a case of bilateral congenital anophthalmia in a setting of a polymalformative syndrome with microcephalia and bilateral lip cleft. Karyotype studies confirmed trisomy 13 known as Patau's syndrome. Trisomy 13 is a rare lethal chromosomal aberration frequently responsible for uni- or bilateral microphthalmia and occasionally for anophthalmia.

  9. Congenital Milia En Plaque on Scalp

    PubMed Central

    Ghosh, Sangita; Sangal, Shikha

    2015-01-01

    Milia en plaque is a rare disease entity characterized by confluence of multiple keratin-filled cysts resulting from the obstruction of hair follicle without any preceding primary dermatosis. Fewer than 40 cases have been reported so far in dermatological literature, and most cases are described to occur in adults and in the peri-auricular area. We describe a case of congenital MEP on scalp of a five-year-old boy with a blaschkoid extension into posterior nuchal area. This case report claims its uniqueness because of the unusual site and congenital presentation. PMID:25657433

  10. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

    Florio, Francesco; Balzano, Silverio; Nardella, Michele; Strizzi, Vincenzo; Cammisa, Mario; Bozzini, Vincenzo; Catapano, Giuseppe; D'Angelo, Vincenzo

    1999-01-15

    We report three cases of congenital absence of an internal carotid artery (ICA), diagnosed incidentally by digital subtraction angiography. The analysis of the cases is based on the classification of segmental ICA agenesis proposed by Lasjaunias and Berenstein. Usually the patients with this rare vascular anomaly are asymptomatic; some may have symptoms related to cerebrovascular insufficiency, compression by enlarged intracranial collateral vessels, or complications associated with cerebral aneurysms. Diagnosis of congenital absence of ICA is made by skull base computed tomography (CT) scan, CT and magnetic resonance angiography, and conventional or digital subtraction angiography.

  11. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

    Because lead crosses the placenta throughout pregnancy, the fetus is at risk for lead poisoning. A full term, asymptomatic child was born with congenital lead poisoning secondary to maternal pica. Radiographic findings of a dense cranial vault, lead lines, and delayed skeletal and deciduous dental development were noted at birth. After chelation therapy, when the patient was seven months old, radiographs revealed normal skeletal maturation. Tooth eruption did not occur until 15 months of age. Newborn infants with these radiographic findings should be screened for subclinical, congenital lead poisoning.

  12. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

    Ali, Mazahir; Zia, Aisha; Siddiqui, Saad Ebrahim

    2015-01-01

    Congenital Hypothyroidism is one of the most common preventable causes of mental retardation which is highly prevalent in our society due to lack of a national neonatal screening program, lack of education of the parents, increased consanguinity, and lack of suspicion from doctor's leads to delayed diagnosis and an increased incidence of congenital hypothyroidism in our society. This Menace can be easily tackled with a mass neonatal screening program and effective legislation which would make sure that serious efforts are being made to eradicate this preventable disease from Pakistan. PMID:27004363

  13. Congenital skin fossae in the zygomatic region.

    PubMed

    Hanawa, Y; Iwahira, Y; Maruyama, Y

    1993-01-01

    A unique case of a congenital skin fossa in the zygomatic region in a 3-year-old girl is reported. Little has been written about congenital fossae, or dimples. They are thought to develop in the wound resulting from the fetal tissue being compressed between a sharp bony point and the uterine wall. The skin and subcutaneous tissue become compressed and adherent, and when the pressure is released, surrounding parts can stand up, while the attached part remains tied down, forming small dimples or fossae, what have been called "pressure dimples." This is the first report of a skin fossa located in the zygomatic region, as far as we know. PMID:8416522

  14. Surgery for congenital diseases of the aorta.

    PubMed

    Cameron, Duke

    2015-02-01

    Congenital diseases of the aorta tend to be obstructive when they present early in life, and aneurysmal when they present later in life. The latter group also tends to be associated with connective tissue disorders and with repaired conotruncal lesions. The indications for intervention in the aneurysm group are still in evolution but are clearly age- and lesion-dependant. Disorders such as Loeys-Dietz syndrome and Turner syndrome may deserve aggressive prophylactic surgery, as well as Marfan syndrome to a lesser extent. The natural history of the dilated aorta after repair of congenital heart lesions is probably more benign than de novo aneurysms and therefore should be treated conservatively.

  15. [Congenital hip dysplasia, screening and therapy].

    PubMed

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

    Congenital hip dysplasia and hip dislocation are relatively common pathological conditions of the musculoskeletal system in infants. An early and certain diagnosis can now be achieved by sonographic hip screening within the framework of screening examination programs. This early diagnostic procedure in infants is essential particularly for a conservative treatment strategy. Therefore, apart from possessing in-depth knowledge, training of the examiner in specialist courses is of central importance. This article presents an overview of the entity of congenital hip dysplasia and hip dislocation, the diagnostics and treatment with special emphasis on recent developments. PMID:26489825

  16. Congenital diaphragmatic Bochdaleck hernia: case report

    PubMed Central

    2012-01-01

    Congenital diaphragmatic Bochdaleck hernia is an anatomical defect of the diaphragm, which allows protrusion of abdominal viscera into the chest, causing serious pulmonary and cardiac complications in the neonate. In this study we aimed to present a case of congenital Bochdaleck hernia. We investigated a 40 weeks old child, with a pregnancy carried out in a public hospital in Passo Fundo, Rio Grande do Sul, Brazil. We suggest that if diagnosis occurs in the prenatal period, the prognosis of this disease improves. As a consequence, it allows the parity of the fetus to occur in a higher complexity center, optimizing the chances of survival. PMID:23110948

  17. Perinatal Management of Major Congenital Heart Disease

    PubMed Central

    McGovern, Eiméar; Sands, Andrew J

    2014-01-01

    Congenital heart disease (CHD) is the most common form of congenital anomaly. Prenatal diagnosis of CHD has been associated with decreased morbidity and mortality for some forms of major CHD. As most cases of major CHD are not identified prenatally, clinical examination of the newborn and pulse oximetry are also important means of identifying more cases. Clinicians must suspect CHD as a diagnosis in a cyanosed or shocked neonate and be familiar with appropriate management, namely the commencement of prostaglandin if a duct dependent cardiac lesion is suspected. Telemedicine can aid prompt diagnosis of CHD and therefore direct appropriate management. PMID:25484461

  18. Novel MPZ mutations and congenital hypomyelinating neuropathy

    PubMed Central

    McMillan, Hugh J.; Santagata, Sandro; Shapiro, Frederic; Batish, Sat Dev; Couchon, Libby; Donnelly, Stephen; Kang, Peter B.

    2010-01-01

    We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies. PMID:20621479

  19. Congenital dislocation of the patella - clinical case.

    PubMed

    Miguel Sá, Pedro; Raposo, Filipa; Santos Carvalho, Manuel; Alegrete, Nuno; Coutinho, Jorge; Costa, Gilberto

    2016-01-01

    Congenital patellar dislocation is a rare condition in which the patella is permanently dislocated and cannot be reduced manually. The patella develops normally as a sesamoid bone of the femur. This congenital dislocation results from failure of the internal rotation of the myotome that forms the femur, quadriceps muscle and extensor apparatus. It usually manifests immediately after birth, although in some rare cases, the diagnosis may be delayed until adolescence or adulthood. Early diagnosis is important, thereby allowing surgical correction and avoiding late sequelae, including early degenerative changes in the knee. A case of permanent dislocation of the patella is presented here, in a female child aged seven years.

  20. A gene map of congenital malformations.

    PubMed Central

    Wilkie, A O; Amberger, J S; McKusick, V A

    1994-01-01

    Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed. PMID:7966186

  1. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is an hamartomatous congenital pulmonary airway malformation with incidence ranging between 1:10,000 and 1:35,000 newborns. Currently CCAM is classified into five groups according to clinical and pathological features. The clinical outcome varies depending on the subtype and the extent of involvement. The authors report the case of a premature male newborn with the prenatal diagnosis of CCAM Type 1 associated with cardiac right axis deviation, who died 67 hours after birth due to respiratory failure. In addition to the autopsy report of this rare entity, the authors present its classification and prognosis. PMID:26558243

  2. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

    Decker, Ashley; Scher, Richard K.; Avarbock, Andrew

    2016-01-01

    Congenital malalignment is the lateral deviation of the nail plate along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges caused by repeated microtrauma to the nail. Common complications include onychomycosis, Pseudomonas infection and acute or chronic paronychia. Treatment options range from conservative management to surgical options including realignment and nail matrixectomy. Congenital malalignment usually presents in infancy or childhood, but we present two cases of acquired malalignment occurring in the teenage years. PMID:27171597

  3. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

    Arun, Sumitha; Kumar, Manish; Ross, Benjamin Jeyanth

    2016-01-01

    Bronchogenic cyst (BC) is a rare congenital malformation of the lung. Most patients remain asymptomatic until adulthood while some are symptomatic in the first few years of life. However, symptoms in newborn period are rare. We report a case of a 3-day-old preterm baby with respiratory distress diagnosed as congenital lobar emphysema on chest X-ray. A CT scan revealed a mediastinal cyst causing obstructive lobar emphysema. The cyst was excised and pathological examination was suggestive of BC. PMID:27609589

  4. Surgery for congenital diseases of the aorta.

    PubMed

    Cameron, Duke

    2015-02-01

    Congenital diseases of the aorta tend to be obstructive when they present early in life, and aneurysmal when they present later in life. The latter group also tends to be associated with connective tissue disorders and with repaired conotruncal lesions. The indications for intervention in the aneurysm group are still in evolution but are clearly age- and lesion-dependant. Disorders such as Loeys-Dietz syndrome and Turner syndrome may deserve aggressive prophylactic surgery, as well as Marfan syndrome to a lesser extent. The natural history of the dilated aorta after repair of congenital heart lesions is probably more benign than de novo aneurysms and therefore should be treated conservatively. PMID:25726075

  5. Congenital color blindness in young Turkish men.

    PubMed

    Citirik, Mehmet; Acaroglu, Golge; Batman, Cosar; Zilelioglu, Orhan

    2005-04-01

    We investigated a healthy population of men from different regions of Turkey for the presence of congenital red-green color blindness. Using Ishihara pseudoisochromatic plates, 941 healthy men from the Turkish army were tested for congenital red-green color blindness. The prevalence of red-green color blindness was 7.33 +/- 0.98% (5.10% protans and 2.23% deutans). These ratios were higher than other reported samples from Mediterranean Europe. Higher percentages of color blindness were found in regions with a lower education level and more consanguineous marriages.

  6. Congenital cartilaginous rest of the neck in a boy.

    PubMed

    Blattner, Collin Mathew; Ross, Fawn; Bohlke, Angela; Young Iii, John

    2016-07-15

    Congenital cartilaginous rest of the neck is a rarely encountered entity that requires surgical excision. In this case report, we describe a 12-year-old boy with asymptomatic congenital cartilaginous rest of the neck. We also discuss the associated congenital malformations that dermatologists must be aware of when caring for patients with this disease.

  7. Congenital cartilaginous rest of the neck in a boy.

    PubMed

    Blattner, Collin Mathew; Ross, Fawn; Bohlke, Angela; Young Iii, John

    2016-01-01

    Congenital cartilaginous rest of the neck is a rarely encountered entity that requires surgical excision. In this case report, we describe a 12-year-old boy with asymptomatic congenital cartilaginous rest of the neck. We also discuss the associated congenital malformations that dermatologists must be aware of when caring for patients with this disease. PMID:27617729

  8. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

    Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported concerning individuals with congenital deafblindness.…

  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. 7 CFR 2902.28 - Stationary equipment hydraulic fluids.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... designation can be found in the Comprehensive Procurement Guideline, 40 CFR 247.11. EPA provides recovered... 7 Agriculture 15 2010-01-01 2010-01-01 false Stationary equipment hydraulic fluids. 2902.28... PROCUREMENT Designated Items § 2902.28 Stationary equipment hydraulic fluids. (a) Definition....

  11. Weighted least squares stationary approximations to linear systems.

    NASA Technical Reports Server (NTRS)

    Bierman, G. J.

    1972-01-01

    Investigation of the problem of replacing a certain time-varying linear system by a stationary one. Several quadratic criteria are proposed to aid in determining suitable candidate systems. One criterion for choosing the matrix B (in the stationary system) is initial-condition dependent, and another bounds the 'worst case' homogeneous system performance. Both of these criteria produce weighted least square fits.

  12. 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)...

  13. 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.

  14. 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.

  15. Analysis of outcomes for congenital cardiac disease: can we do better?

    PubMed

    Jacobs, Jeffrey P; Wernovsky, Gil; Elliott, Martin J

    2007-09-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for the analysis of outcomes of treatments for patients with congenitally malformed hearts. We will consider the current state of analysis of outcomes, lay out some principles which might make it possible to achieve life-long monitoring and follow-up using our databases, and describe the next steps those involved in the care of these patients need to take in order to achieve these objectives. In order to perform meaningful multi-institutional analyses, we suggest that any database must incorporate the following six essential elements: use of a common language and nomenclature, use of an established uniform core dataset for collection of information, incorporation of a mechanism of evaluating case complexity, availability of a mechanism to assure and verify the completeness and accuracy of the data collected, collaboration between medical and surgical subspecialties, and standardised protocols for life-long follow-up. During the 1990s, both The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons created databases to assess the outcomes of congenital cardiac surgery. Beginning in 1998, these two organizations collaborated to create the International Congenital Heart Surgery Nomenclature and Database Project. By 2000, a common nomenclature, along with a common core minimal dataset, were adopted by The European Association for Cardio-Thoracic Surgery and The Society of Thoracic Surgeons, 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. The working component of this international nomenclature society has been The International Working Group for Mapping and Coding

  16. Giant congenital capillary hemangioma of pericranium--case report.

    PubMed

    Tokuda, Y; Uozumi, T; Sakoda, K; Yamada, K; Yamanaka, M; Nomura, S; Hamasaki, T

    1990-12-01

    The authors report a newborn male infant with a giant congenital capillary hemangioma of the pericranium. An elastic mass, measuring 6.5 x 6.9 x 3.9 cm, was located in the parieto-occipital region. Neurological examination revealed no abnormality. Angiographically, the tumor was fed symmetrically by the bilateral superficial temporal, occipital, and middle meningeal arteries. At surgery, the encapsulated tumor appeared to have arisen from the periosteum and was removed completely. Histological diagnosis was capillary hemangioma. Capillary hemangioma is a common benign tumor in infancy and usually present as a strawberry mark or port-wine stain. However, when the tumors seat relatively deeply as in the present case, they produce little or no discoloration in the overlying skin. Angiography is then useful to differentiate capillary hemangioma from other lesions and to choose an appropriate treatment. PMID:1714050

  17. Congenital renal tumor: metanephric adenoma, nephrogenic rest, or malignancy?

    PubMed

    Yin, Minzhi; Cai, Jiaoyang; Thorner, Paul Scott

    2015-01-01

    We report a renal tumor detected by prenatal ultrasound and resected at 2 months of age. This 9-cm, solid mass was composed of tubular and papillary structures lined by small, uniform epithelial cells. There was local invasion into renal parenchyma and a tumor deposit in a hilar lymph node. The tumor was immunopositive for WT1, pankeratin, and CD10; focally positive for CK7; and negative for EMA and TFE3. Based on morphology and immunophenotype, the favored diagnosis was metanephric adenoma over Wilms tumor, renal cell carcinoma, and nephrogenic rest. However, metanephric adenoma only occasionally occurs in children and has never been reported prenatally. Alternatively, this tumor might be a congenital Wilms tumor that differentiated completely. Although the nature of the tumor remains unconfirmed, resection appears to have been curative; the patient remains disease-free 18 months following surgery alone. PMID:25734608

  18. Congenital Absence of Superior Vena Cava with no Manifestation of Superior Vena Cava Syndrome

    PubMed Central

    Park, Chan Soon; Kim, Jeong Jae

    2016-01-01

    Total absence of superior vena cava (SVC) is a very rare anomaly, and the patient usually suffers from SVC syndrome or conduction disturbances. We report an asymptomatic 27 year-old male, with complete absence of SVC. Transthoracic echocardiography and computed tomography demonstrated the absence of SVC and other congenital cardiac anomalies, but the presence of prominent collateral vessels that allow a sufficient venous return.

  19. Automatic Measurement System For Congenital Hip Dislocation Using A Computed Radiography

    NASA Astrophysics Data System (ADS)

    Komori, M.; Minato, K.; Nakano, Y.; Hirakawa, A.; Kuwahara, M.

    1988-06-01

    Acetabular angle which is a diagnostic parameter of congenital hip dislocation has been measured manually in conventional X-ray film system. Using digital image directly provided from a computed radiography, an automatic measurement system was developed for this parameter. The process of the measurement was completed within a reasonable time, and accurate enough. The system was combined with an image database, so that it would be a measurement tool of PACS.

  20. Prototheca wickerhamii as a cause of neuroinfection in a child with congenital hydrocephalus. First case of human protothecosis in Poland.

    PubMed

    Zak, Iwona; Jagielski, Tomasz; Kwiatkowski, Stanisław; Bielecki, Jacek

    2012-10-01

    This report describes a rare case of neuroinfection due to Prototheca wickerhamii in a child with severe, congenital hydrocephalus. The infection resolved completely after the patient was treated with oral ketoconazole, followed by intravenous fluconazole and amphotericin B. A probable source of infection was contamination during ventriculoperitoneal drain care procedures. PMID:22858361

  1. Solitary Type of Congenital Self-healing Reticulohistiocytosis

    PubMed Central

    Dorjsuren, Gantsetseg; Kim, Hee Jung; Jung, Jin Young; Bae, Byung Gi

    2011-01-01

    Congenital self-healing reticulohistiocytosis is a rare, congenital, benign, self-healing variant of Langerhans cell histiocytosis. It usually appears as multiple papules or nodules; however, occurrence of the solitary type is very rare. We report on a case of solitary congenital self-healing reticulohistiocytosis in a 29-day-old girl who presented with a papule on her sole. Two months later, the lesion regressed with a slight scar. Based upon clinical and histologic findings, we made a diagnosis of solitary congenital self-healing reticulohistiocytosis. In this report, we summarized reported cases of solitary congenital self-healing retioculohistiocytosis in Korea with a review of the literature. PMID:22028569

  2. [Congenital heart diseases in clinical practice].

    PubMed

    Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno

    2012-05-01

    Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.

  3. Congenital cystic choristoma mimicking cervical lymphangioma.

    PubMed

    Moon, Suk-Bae; Park, Kwi-Won; Yun, Woong-Jae; Patten, Phillip P; Jung, Sung-Eun

    2008-09-01

    Choristoma is a tissue or mass with a normal histology at an abnormal location, and cystic choristoma has rarely been reported in the head and neck region. Cervical cystic masses in neonates are usually diagnosed as cystic lymphangioma. The authors present a case of a congenital laterocervical cystic mass that appeared to be lymphangioma, but which turned out to be a cystic choristoma.

  4. Genetics Home Reference: congenital neuronal ceroid lipofuscinosis

    MedlinePlus

    ... AE, Tyynelä J. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain. 2006 Jun;129(Pt 6):1438-45. Epub 2006 May 2. Citation on PubMed Steinfeld ... deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet. 2006 Jun; ...

  5. Congenital Disorders of Glycosylation and Intellectual Disability

    ERIC Educational Resources Information Center

    Wolfe, Lynne A.; Krasnewich, Donna

    2013-01-01

    The congenital disorders of glycosylation (CDG) are a rapidly growing group of inborn errors of metabolism that result from defects in the synthesis of glycans. Glycosylation is a major post-translational protein modification and an estimated 2% of the human genome encodes proteins for glycosylation. The molecular bases for the current 60…

  6. Genetics of Nonsyndromic Congenital Hearing Loss.

    PubMed

    Egilmez, Oguz Kadir; Kalcioglu, M Tayyar

    2016-01-01

    Congenital hearing impairment affects nearly 1 in every 1000 live births and is the most frequent birth defect in developed societies. Hereditary types of hearing loss account for more than 50% of all congenital sensorineural hearing loss cases and are caused by genetic mutations. HL can be either nonsyndromic, which is restricted to the inner ear, or syndromic, a part of multiple anomalies affecting the body. Nonsyndromic HL can be categorised by mode of inheritance, such as autosomal dominant (called DFNA), autosomal recessive (DFNB), mitochondrial, and X-linked (DFN). To date, 125 deafness loci have been reported in the literature: 58 DFNA loci, 63 DFNB loci, and 4 X-linked loci. Mutations in genes that control the adhesion of hair cells, intracellular transport, neurotransmitter release, ionic hemeostasis, and cytoskeleton of hair cells can lead to malfunctions of the cochlea and inner ear. In recent years, with the increase in studies about genes involved in congenital hearing loss, genetic counselling and treatment options have emerged and increased in availability. This paper presents an overview of the currently known genes associated with nonsyndromic congenital hearing loss and mutations in the inner ear. PMID:26989561

  7. Congenital cutaneous histiocytosis in a piglet.

    PubMed

    Hélie, P; Kiupel, M; Drolet, R

    2014-07-01

    A 2-week-old crossbred male piglet with numerous congenital, variably sized macules, plaques, and papules distributed all over the body was submitted for necropsy. Significant gross and histological lesions were restricted to the skin. On light microscopic examination, these cutaneous lesions corresponded to dermal and/or subcutaneous masses composed of spindle-shaped to round cells that multifocally contained hemosiderin; epidermotropism was not observed. Immunohistochemically, the neoplastic cells were strongly positive for CD204; moderately positive for CD163, lysozyme, and vimentin; and negative for Mac 387, α-1-antitrypsin, S-100 protein and E-cadherin; frozen tissues were not available for CD1a and CD11c. Transmission electron microscopic examination of sections from formalin-fixed tissues did not reveal Birbeck's granules. The clinical, morphological, and immunohistochemical results were consistent with a congenital cutaneous histiocytosis of non-Langerhans cell origin. The condition most resembled juvenile xanthogranuloma in humans, a generally skin-limited non-Langerhans histiocytic disorder that can be congenital. Cutaneous and/or systemic histiocytic disorders are well characterized in dogs and have been described in cats, and a case with some similarities to ours has been reported in a neonatal piglet, but this is to our knowledge the first immunohistochemically supported report of histiocytosis in the pig and congenital histiocytosis in animals.

  8. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-09-24

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered.

  9. Genetics Home Reference: severe congenital neutropenia

    MedlinePlus

    ... Alter BP, Link DC, Stein S, Rodger E, Bolyard AA, Aprikyan AA, Bonilla MA, Dror Y, Kannourakis G, Newburger PE, ... PubMed or Free article on PubMed Central Schäffer AA, Klein C. Genetic heterogeneity in severe congenital neutropenia: ...

  10. Congenital hepatic cyst with intracystic hemorrhage

    PubMed Central

    Ni, Qingqiang; Zhang, Minfeng; Yang, Cheng; Cai, Wenchang; Zhao, Qian; Shen, Weifeng; Yang, Jiamei

    2016-01-01

    Abstract Introduction: Fast-growing congenital hepatic cysts with intracystic hemorrhage are rare in clinical practice. Additionally, the clinical manifestations of and laboratory and imaging findings for this condition are often nonspecific and are particularly difficult to differentiate from those of hepatobiliary cystadenoma and cystadenocarcinoma, thus posing great challenges for diagnosis and treatment. The 2 case reports presented here aim to analyze the diagnosis and treatment of 2 rare cases of congenital hepatic cysts with intracystic hemorrhage in the Chinese Han population to provide an important reference for the clinical diagnosis and treatment of this condition. Diagnoses: These 2 case reports present 2 rare cases of congenital hepatic cysts with intracystic hemorrhage. Case 1 involved a 31-year-old patient with a very large, fast-growing hepatic cyst with intracystic hemorrhage and elevated carbohydrate antigen 199. Case 2 involved a patient with intense, paroxysmal right upper abdominal pain; computed tomography suggested a hepatic cyst with intracystic hemorrhage and possibly hepatobiliary cystadenoma. Outcomes: Both patients underwent liver resection. Postoperative follow-up showed that for both patients, the symptoms improved, the laboratory findings returned to normal levels, and the surgical outcomes were satisfactory. Conclusion: Liver resection is an ideal treatment for patients with congenital hepatic cysts with intracystic hemorrhage, and especially those with fast-growing, symptomatic hepatic cysts or hepatic cysts that are difficult to differentiate from hepatobiliary cystadenoma and cystadenocarcinoma. PMID:27759646

  11. Why prevent, diagnose and treat congenital toxoplasmosis?

    PubMed Central

    McLeod, Rima; Kieffer, Francois; Sautter, Mari; Hosten, Tiffany; Pelloux, Herve

    2009-01-01

    Evidence that prevention, diagnosis and treatment of toxoplasmosis is beneficial developed as follows: antiparasitic agents abrogate Toxoplasma gondii tachyzoite growth, preventing destruction of infected, cultured, mammalian cells and cure active infections in experimental animals, including primates. They treat active infections in persons who are immune-compromised, limit destruction of retina by replicating parasites and thereby treat ocular toxoplasmosis and treat active infection in the fetus and infant. Outcomes of untreated congenital toxoplasmosis include adverse ocular and neurologic sequelae described in different countries and decades. Better outcomes are associated with treatment of infected infants throughout their first year of life. Shorter intervals between diagnosis and treatment in utero improve outcomes. A French approach for diagnosis and treatment of congenital toxoplasmosis in the fetus and infant can prevent toxoplasmosis and limit adverse sequelae. In addition, new data demonstrate that this French approach results in favorable outcomes with some early gestation infections. A standardized approach to diagnosis and treatment during gestation has not yet been applied generally in the USA. Nonetheless, a small, similar experience confirms that this French approach is feasible, safe, and results in favorable outcomes in the National Collaborative Chicago-based Congenital Toxoplasmosis Study cohort. Prompt diagnosis, prevention and treatment reduce adverse sequelae of congenital toxoplasmosis. PMID:19430661

  12. Subclinical Congenital Cytomegalovirus Infection and Hearing Impairment

    ERIC Educational Resources Information Center

    Dahle, Arthur J.; And Others

    1974-01-01

    When the hearing sensitivity of children with subclinical congenital cytomegalovirus infection was evaluated and compared with that of a group of matched control subjects, nine of the 18 infected subjects were found to have some hearing loss, ranging from slight high-frequency impairments to a severe-to-profound unilateral loss. (MYS)

  13. Congenital nasolacrimal atresia in 4 alpacas

    PubMed Central

    Sandmeyer, Lynne S.; Bauer, Bianca S.; Breaux, Carrie B.; Grahn, Bruce H.

    2011-01-01

    Four alpacas, 2 wk to 1 y of age, were diagnosed with congenital atresia of the nasal puncta of the nasolacrimal duct. Dacryocystorhinography confirmed and localized the atresia. All animals were treated successfully by surgical creation of nasal puncta and patency was ensured by placement of a surgical stent for several weeks. PMID:21629429

  14. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    PubMed

    Iwamura, Hitoshi; Kondo, Kenji; Sawamura, Hiromasa; Baba, Shintaro; Yasuhara, Kazuo; Yamasoba, Tatsuya

    2016-01-01

    The association between congenital facial paralysis and visual development has not been thoroughly studied. Of 27 pediatric cases of congenital facial paralysis, we identified 3 patients who developed amblyopia, a visual acuity decrease caused by abnormal visual development, as comorbidity. These 3 patients had facial paralysis in the periocular region and developed amblyopia on the paralyzed side. They started treatment by wearing an eye patch immediately after diagnosis and before the critical visual developmental period; all patients responded to the treatment. Our findings suggest that the incidence of amblyopia in the cases of congenital facial paralysis, particularly the paralysis in the periocular region, is higher than that in the general pediatric population. Interestingly, 2 of the 3 patients developed anisometropic amblyopia due to the hyperopia of the affected eye, implying that the periocular facial paralysis may have affected the refraction of the eye through yet unspecified mechanisms. Therefore, the physicians who manage facial paralysis should keep this pathology in mind, and when they see pediatric patients with congenital facial paralysis involving the periocular region, they should consult an ophthalmologist as soon as possible.

  15. Congenital midline sinus of the upper lip.

    PubMed

    Al-Qattan, M M

    2000-01-01

    A rare case of congenital midline sinus of the upper lip is presented. The patient had recurrent cellulitis with swelling at the base of the medial crus of the right lower lateral cartilage. Excision was performed using the intraoral approach. Theories concerning the etiology of the midline sinus of the upper lip are discussed. PMID:10651370

  16. Bilateral nonfistulous congenital coronary arterial aneurysms.

    PubMed

    Wilson, C S; Weaver, W F; Zeman, E D; Forker, A D

    1975-02-01

    A 15 year old boy collapsed and died after participating in a basketball game. Autopsy revealed bilateral congenital coronary arterial aneurysms. The diagnosis was made post mortem but, retrospectively, might have been suspected during life, even before angiography. The clues to the correct diagnosis were chest pain, a systolic and diastolic murmur and a mass on the right heart border in the chest roentgenogram.

  17. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

    PubMed

    Engle, E C; Goumnerov, B C; McKeown, C A; Schatz, M; Johns, D R; Porter, J D; Beggs, A H

    1997-03-01

    Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system. PMID:9066352

  18. 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

  19. A case of complete situs inversus.

    PubMed

    Marta, M João; Falcão, L Menezes; Saavedra, J A; Ravara, Luciano

    2003-01-01

    Complete situs inversus is a rare syndrome, with overall frequency estimated at 1/10,000 births, resulting from abnormal rotation of the cardiac tube during embryogenesis, of unknown mechanism. Recent studies suggest that left-right asymmetry defects are likely to be due to genetic abnormalities in the lefty, nodal, i.v., HAND, ZIC3, Shh, ACVR2B and/or Pitxz genes. In dextrocardia with situs inversus the heart is structurally normal in 90-95% of cases, in contrast to dextroversion (dextrocardia with situs solitus), which has a high incidence of structural cardiac defects. Atrial septal defect is one of the most common congenital cardiac anomalies in adults. Diagnosis is based on clinical manifestations and simple complementary diagnostic exams like abdominal and thoracic radiography and electrocardiogram. Prognosis in isolated dextrocardia depends on the congenital cardiac defects present. By contrast, in dextrocardia with situs inversus life expectancy is similar to that of the general population. The authors present the case of a 64-year-old German man admitted to the emergency care unit with a diagnosis of embolic stroke due to atrial fibrillation with fast ventricular rate. As clinical history could not be assessed due to language limitations, routine admission tests were performed. They revealed complete situs inversus with corrected ostium secundum atrial septal defect. Finally, the anatomic, pathologic, embryologic and etiologic features of complete situs inversus and related abnormalities of the cardiac structures are presented. Special emphasis is given to genetic abnormalities, the study of which has seen great advances since the 1990s thanks to new techniques of DNA analysis.

  20. Model of non-stationary, inhomogeneous turbulence

    NASA Astrophysics Data System (ADS)

    Bragg, Andrew D.; Kurien, Susan; Clark, Timothy T.

    2016-07-01

    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.

  1. 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.

  2. Congenital toxoplasmosis and prenatal care state programs

    PubMed Central

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  3. Mechanisms of Stationary Rossby Wave Change in a Changing Climate

    NASA Astrophysics Data System (ADS)

    Wills, R.; Schneider, T.

    2014-12-01

    Stationary or low-frequency Rossby waves are the primary drivers of midlatitude weather on monthly and longer timescales. They take the form of blocking highs which can lead to droughts downstream or persistent extratropical lows which guide storms into the coastal midlatitudes. We investigate the stationary Rossby wave response to topography and ocean heating in an idealized GCM, simulating a wide range of climates by varying the longwave optical depth. The stationary Rossby wave response to warming depends on the latitude and type of forcing. We find that the primary mechanism of change is in the downstream propagation of energy which is well described by linear wave theory and thus depends primarily on the structure of the zonal mean jet. For example, as the tropopause height increases allowing the jet to get stronger with warming, the stationary wavenumber decreases, leading to, among other things, an expansion of dry zones associated with stationary wave subsidence. Additionally, as the easterlies expand, the influence of extratropical stationary wave sources is no longer as prominent in the subtropics. Deviations from these linear responses are examined in terms of the vorticity budget. Nonlinear effects remain secondary to linear theory throughout the range of climates. We compare these results with the stationary wave response in the CMIP5 RCP8.5 scenario.

  4. Peratrial Device Closure of a Congenital Coronary Artery Fistula through a Right Parasternal Approach: Innovative Use of Available Technology.

    PubMed

    Jia, Yanting; Hongxin, Li; Wenbin, Guo; Zhang, Haizhou; Zou, Chengwei

    2016-02-16

    Current treatments for congenital coronary artery fistulas (CAFs) include surgical obliteration and transcatheter occlusion. However, surgical techniques involve significant trauma. Transcatheter occlusion is performed under fluoroscopy and angiography, in which radiation injury is inevitable. We present a patient, with a CAF from the left coronary artery to the right atrium, who underwent peratrial device closure of the CAF with a right parasternal approach under transesophageal echocardiography guidance. Complete occlusion was achieved by a symmetric ventricular septal occluder. We suggest that peratrial device closure of a congenital coronary artery fistula through a right parasternal approach may be a safe and effective option.

  5. 76 FR 37953 - Standards of Performance for Stationary Compression Ignition and Spark Ignition Internal...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-28

    ... Performance for Stationary Compression Ignition and Spark Ignition Internal Combustion Engines; Final Rule #0... for Stationary Compression Ignition and Spark Ignition Internal Combustion Engines AGENCY: The... standards of performance for new stationary compression ignition internal combustion engines under...

  6. 76 FR 2904 - Agency Information Collection Activities; Proposed Collection; Comment Request; Air Stationary...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-18

    ... Information Collection Activities; Proposed Collection; Comment Request; Air Stationary Source Compliance and...: (202) 501-0411. Mail: Air Stationary Source Compliance and Enforcement Information, Environmental... this action are State, District, ] Local, and Commonwealth governments. Title: Air Stationary...

  7. Optimal parameters for linear second-degree stationary iterative methods

    SciTech Connect

    Manteuffel, T. A.

    1980-11-01

    It is shown that the optimal parameters for linear second-degree stationary iterative methods applied to nonsymmetric linear systems can be found by solving the same minimax problem used to find optimal parameters for the Tchebychev iteration. In fact, the Tchebychev iteration is asymptotically equivalent to a linear second-degree stationary method. The method of finding optimal parameters for the Tchebychev iteration given by Manteuffel (Numer. Math., 28, 307-27 (1977)) can be used to find optimal parameters for the stationary method as well. 1 figure.

  8. Comparison study of seizure detection using stationary and nonstationary methods.

    PubMed

    Li, Ying; Hsin, Yue-Loong; Liu, Wentai

    2014-01-01

    We present an accurate seizure detection algorithm, and make a detailed comparison of two frequency analysis methods: a widely used stationary method - Fast Fourier Transform (FFT) and a relatively new nonstationary method - Hilbert-Huang Transform (HHT). Two public databases and one our own database were tested. The results show that our algorithm has very high accuracy compared with the state-of-the-art. More interestingly, it shows that the nonstationary method HHT offers better performance than the stationary method FFT in seizure detection. Therefore we propose that we should pay attention to the nonstationarity of EEG signal, since the "stationary assumption" may introduce some inaccuracy.

  9. [Advances in polymer materials as chiral stationary phase].

    PubMed

    Dai, Rongji; Wang, Huiting; Sun, Weiwei; Deng, Yulin; Lü, Fang; Liu, Xiujie

    2016-01-01

    The applications of chiral drugs had a profound impact on human health. With the development of disciplines of chemistry, materials and life science, the research on the separation and analysis of chiral drugs became intensified. Chromatography and the selection of chiral stationary phase played important roles in resolving chiral drugs. The optimization of polymer materials and their derivatives as chiral stationary phase become the main issue in recent years. Recent studies as well as prospects in polymer materials used as chiral stationary phase are presented in this paper. PMID:27319162

  10. Amodal Completion in Bonobos

    ERIC Educational Resources Information Center

    Nagasaka, Yasuo; Brooks, Daniel I.; Wasserman, Edward A.

    2010-01-01

    We trained two bonobos to discriminate among occluded, complete, and incomplete stimuli. The occluded stimulus comprised a pair of colored shapes, one of which appeared to occlude the other. The complete and incomplete stimuli involved the single shape that appeared to have been partially covered in the occluded stimulus; the complete stimulus…

  11. Role of stationary invariant manifolds in the spatiotemporal dynamics of a nonlinear-wave system of finite extension: Application to polarization attraction in optical fibers

    NASA Astrophysics Data System (ADS)

    Hamraoui, K.; Guasoni, M.; Picozzi, A.; Assémat, E.; Jauslin, H. R.; Sugny, D.

    2016-05-01

    The study of the spatiotemporal dynamics of two counterpropagating beams in optical fibers has recently been the subject of a growing renewed interest. This system has been shown to exhibit a phenomenon of polarization attraction which can be used to achieve a complete polarization of an initially unpolarized beam, almost without any loss of energy. In previous works, a theoretical description of this phenomenon has been developed in the particular case where the underlying stationary system exhibits the important property of integrability. Our aim here is to provide a generalization of the theoretical description to nonintegrable stationary systems. The analysis reveals that the spatiotemporal dynamics of the system relaxes towards a stationary trajectory whose geometric structure is revealed by the stable and unstable manifolds of some singular fixed points of the stationary system. We illustrate the theory by considering the representative and concrete example of a weakly birefringent optical fiber system.

  12. 77 FR 71751 - Approval and Promulgation of Air Quality Implementation Plans; Delaware; Control of Stationary...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-04

    ... Stationary Generator Emissions AGENCY: Environmental Protection Agency (EPA). ACTION: Proposed rule. SUMMARY... for owners of stationary generators. In the Final Rules section of this Federal Register, EPA...

  13. Congenital transmission of Trypanosoma cruzi in central Brazil. A study of 1,211 individuals born to infected mothers.

    PubMed

    Luquetti, Alejandro O; Tavares, Suelene Brito do Nascimento; Siriano, Liliane da Rocha; Oliveira, Rozângela Amaral de; Campos, Dayse Elizabeth; de Morais, Cicilio Alves; de Oliveira, Enio Chaves

    2015-05-01

    Transmission of Trypanosoma cruzi during pregnancy is estimated to occur in less than 20% of infected mothers; however, the etiopathogenesis is not completely understood. The Centre for Studies on Chagas Disease provides confirmation of T. cruzi infection for individuals living in central Brazil. In this retrospective hospital-based study, all requests for diagnosis of T. cruzi infection in individuals less than 21 years old from 1994-2014 were searched. We end with 1,211 individuals and their respective infected mothers. Congenital transmission of infection was confirmed in 24 individuals (2%) in central Brazil, an area where the main T. cruzi lineage circulating in humans is TcII. This low prevalence of congenital Chagas disease is discussed in relation to recent findings in the south region of Brazil, where TcV is the main lineage and congenital transmission has a higher prevalence (approximately 5%), similar to frequencies reported in Argentina, Paraguay and Bolivia. This is the first report to show geographical differences in the rates of congenital transmission of T. cruzi and the relationship between the prevalence of congenital transmission and the type of Tc prevalent in each region.

  14. Congenital transmission of Trypanosoma cruzi in central Brazil. A study of 1,211 individuals born to infected mothers

    PubMed Central

    Luquetti, Alejandro O; Tavares, Suelene Brito do Nascimento; Siriano, Liliane da Rocha; de Oliveira, Rozângela Amaral; Campos, Dayse Elizabeth; de Morais, Cicilio Alves; de Oliveira, Enio Chaves

    2015-01-01

    Transmission of Trypanosoma cruzi during pregnancy is estimated to occur in less than 20% of infected mothers; however, the etiopathogenesis is not completely understood. The Centre for Studies on Chagas Disease provides confirmation of T. cruzi infection for individuals living in central Brazil. In this retrospective hospital-based study, all requests for diagnosis of T. cruzi infection in individuals less than 21 years old from 1994-2014 were searched. We end with 1,211 individuals and their respective infected mothers. Congenital transmission of infection was confirmed in 24 individuals (2%) in central Brazil, an area where the main T. cruzi lineage circulating in humans is TcII. This low prevalence of congenital Chagas disease is discussed in relation to recent findings in the south region of Brazil, where TcV is the main lineage and congenital transmission has a higher prevalence (approximately 5%), similar to frequencies reported in Argentina, Paraguay and Bolivia. This is the first report to show geographical differences in the rates of congenital transmission of T. cruzi and the relationship between the prevalence of congenital transmission and the type of Tc prevalent in each region. PMID:25993506

  15. Vacillations induced by interference of stationary and traveling planetary waves

    NASA Technical Reports Server (NTRS)

    Salby, Murry L.; Garcia, Rolando R.

    1987-01-01

    The interference pattern produced when a traveling planetary wave propagates over a stationary forced wave is explored, examining the interference signature in a variety of diagnostics. The wave field is first restricted to a diatomic spectrum consisting of two components: a single stationary wave and a single monochromatic traveling wave. A simple barotropic normal mode propagating over a simple stationary plane wave is considered, and closed form solutions are obtained. The wave fields are then restricted spatially, providing more realistic structures without sacrificing the advantages of an analytical solution. Both stationary and traveling wave fields are calculated numerically with the linearized Primitive Equations in a realistic basic state. The mean flow reaction to the fluctuating eddy forcing which results from interference is derived. Synoptic geopotential behavior corresponding to the combined wave and mean flow fields is presented, and the synoptic signature in potential vorticity on isentropic surfaces is examined.

  16. 80. STARBOARD CATAPULT FORWARD LOOKING AFT SHOWING STATIONARY SHEAVE, ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    80. STARBOARD CATAPULT - FORWARD LOOKING AFT SHOWING STATIONARY SHEAVE, RAILS, RETRACTING ENGINE SHEAVE IN OVERHEAD, VARIOUS HYDRAULIC PIPING WITH SHOCK BENDS AND EXPANSION JOINT. - U.S.S. HORNET, Puget Sound Naval Shipyard, Sinclair Inlet, Bremerton, Kitsap County, WA

  17. Peptidoglycan biosynthesis in stationary-phase cells of Escherichia coli.

    PubMed Central

    Blasco, B; Pisabarro, A G; de Pedro, M A

    1988-01-01

    The ability of stationary-phase cells of Escherichia coli W7 to incorporate radioactive precursors into macromolecular murein has been studied. During the initial 6 h of the stationary phase, resting cells incorporated meso-[3H]diaminopimelic acid at a rate corresponding to the insertion of 1.3 X 10(4) disaccharide units min-1 cell-1. Afterwards, the rate of incorporation dropped drastically (90%) to a low but still detectable level. Incorporation during stationary phase did not result in an increased amount of total murein in the culture, suggesting that it was related to a turnover process. Analysis of the effects of a number of beta-lactam antibiotics indicated that incorporation of murein precursors in stationary-phase cells was mediated by penicillin-binding proteins, suggesting that the activity of penicillin-binding protein 2 was particularly relevant to this process. PMID:3141382

  18. On Stationary States in the Double Phosphorylation-dephosphorylation Cycle

    NASA Astrophysics Data System (ADS)

    Bersani, Alberto Maria; Dell'Acqua, Guido; Tomassetti, Giovanna

    2011-09-01

    In this paper we study the double phosphorylation-dephosphorylation cycle, which is a special case of multiple futile cycle. We study the stationary states, finding some classes of explicit solutions.

  19. Robust Burg estimation of stationary autoregressive mixtures covariance

    NASA Astrophysics Data System (ADS)

    Decurninge, Alexis; Barbaresco, Frédéric

    2015-01-01

    Burg estimators are classically used for the estimation of the autocovariance of a stationary autoregressive process. We propose to consider scale mixtures of stationary autoregressive processes, a non-Gaussian extension of the latter. The traces of such processes are Spherically Invariant Random Vectors (SIRV) with a constraint on the scatter matrix due to the autoregressive model. We propose adaptations of the Burg estimators to the considered models and their associated robust versions based on geometrical considerations.

  20. Tunnelling effect of the non-stationary Kerr black hole

    NASA Astrophysics Data System (ADS)

    Yang, Shu-Zheng; Chen, De-You

    2008-03-01

    Extending Parikh and Wilczek's work to the non-stationary black hole, we study the Hawking radiation of the non-stationary Kerr black hole by the Hamilton-Jacobi method. The result shows that the radiation spectrum is not purely thermal and the tunnelling probability is related to the change of Bekenstein-Hawking entropy, which gives a correction to the Hawking thermal radiation of the black hole.

  1. Geophysics-based method of locating a stationary earth object

    DOEpatents

    Daily, Michael R.; Rohde, Steven B.; Novak, James L.

    2008-05-20

    A geophysics-based method for determining the position of a stationary earth object uses the periodic changes in the gravity vector of the earth caused by the sun- and moon-orbits. Because the local gravity field is highly irregular over a global scale, a model of local tidal accelerations can be compared to actual accelerometer measurements to determine the latitude and longitude of the stationary object.

  2. Pushing concentration of stationary solar concentrators to the limit.

    PubMed

    Winston, Roland; Zhang, Weiya

    2010-04-26

    We give the theoretical limit of concentration allowed by nonimaging optics for stationary solar concentrators after reviewing sun- earth geometry in direction cosine space. We then discuss the design principles that we follow to approach the maximum concentration along with examples including a hollow CPC trough, a dielectric CPC trough, and a 3D dielectric stationary solar concentrator which concentrates sun light four times (4x), eight hours per day year around. PMID:20607887

  3. Pushing concentration of stationary solar concentrators to the limit.

    PubMed

    Winston, Roland; Zhang, Weiya

    2010-04-26

    We give the theoretical limit of concentration allowed by nonimaging optics for stationary solar concentrators after reviewing sun-earth geometry in direction cosine space. We then discuss the design principles that we follow to approach the maximum concentration along with examples including a hollow CPC trough, a dielectric CPC trough, and a 3D dielectric stationary solar concentrator which concentrates sun light four times (4x), eight hours per day year around. PMID:20588575

  4. Congenital amusia in childhood: a case study.

    PubMed

    Lebrun, Marie-Andrée; Moreau, Patricia; McNally-Gagnon, Andréane; Mignault Goulet, Geneviève; Peretz, Isabelle

    2012-06-01

    Here we describe the first documented case of congenital amusia in childhood. AS is a 10-year-old girl who was referred to us by her choir director for persisting difficulties in singing. We tested her with the child version of the Montreal Battery for the Evaluation of Amusia (MBEA) which confirmed AS's severe problems with melodic and rhythmic discrimination and memory for melodies. The disorder appears to be limited to music since her audiometry as well as her intellectual and language skills are normal. Furthermore, the musical disorder is associated to a severe deficit in detecting small pitch changes. The electrical brain responses point to an anomaly in the early stages of auditory processing, such as reflected by an abnormal mismatch negativity (MMN) response to small pitch changes. In singing, AS makes more pitch than time errors. Thus, despite frequent and regular musical practice, AS's profile is similar to the adult form of congenital amusia. PMID:21453912

  5. Spontaneous closure of congenital coronary artery fistulas

    PubMed Central

    Schleich, J; Rey, C; Gewillig, M; Bozio, A

    2001-01-01

    Six cases of full spontaneous closure of congenital coronary artery fistulas, and one case of near closure, as seen by colour Doppler echocardiography, are presented. It is worth reconsidering the classical view that nearly all cases of spontaneous closure are eligible for surgical or percutaneous correction to prevent the development of significant and potentially fatal complications. As the natural course of coronary artery fistulas is still poorly defined, asymptomatic patients, especially those under 7 years old with small shunts, should be periodically followed up by echocardiography rather than be subjected to operative closure, even by catheterisation.


Keywords: congenital heart disease; coronary artery disease; coronary artery fistula; spontaneous closure PMID:11250983

  6. [Congenital laryngo-tracheo-esophageal cleft].

    PubMed

    Sørensen, J A; Godballe, C; Jørgensen, K; Pedersen, S A

    1989-01-01

    A typical case of congenital laryngo-trachea-esophageal cleft (LTEC) is presented with a Review of the literature. LTEC is a rare congenital anomaly caused by defective fusion of the septum between larynx/trachea and hypopharynx/esophagus. The septum is formed by fusion of two lateral folds growing medially in very early foetal life. Fusion progresses in a cranial direction. Disturbances in septum formation result in LTEC. The disease gives respiratory problems with aspiration and excessive salivary production. The diagnosis is best made by intubating the larynx and examining the postcricoid region and anterior wall of the esophagus endoscopically. Stapling of the stomach, tracheostomy and secondary operative closure of the cleft has proved effective in the treatment of LTEC. PMID:2911891

  7. Vestibular failure in children with congenital deafness.

    PubMed

    Kaga, Kimitaka; Shinjo, Yukiko; Jin, Yulian; Takegoshi, Hideki

    2008-09-01

    Congenitally deaf infants and children commonly suffer vestibular failure in both ears, and impairment of postural control, locomotion, and gait. The development of gross motor functions, such as head control, sitting, and walking is likely to be delayed, but fine motor function is usually preserved unless disorders of the central nervous system are present. These children can eventually catch up with their normal peers in terms of development and growth as a result of central vestibular compensation. The visual and somatosensory systems, pyramidal and extrapyramidal motor system (cerebellum, basal ganglia, cerebrum) and intellectual development, compensate for vestibular failure in infants and children with congenitally hypoactive or absent function of the semicircular canals and otolith organs. PMID:18821229

  8. Orbital expansion of the congenitally anophthalmic socket.

    PubMed Central

    Tucker, S M; Sapp, N; Collin, R

    1995-01-01

    BACKGROUND--Congenital anophthalmos is a rare condition in which intervention at an early age can stimulate orbital expansion and maximise facial symmetry. Much is still unknown, however, regarding the degree of soft tissue and bony orbital growth achieved using the orbital expanders presently available. METHODS--A retrospective review of 59 congenitally anophthalmic orbits in 42 patients was carried out. RESULTS--The soft tissue and bony orbital expansion achieved using serial solid shapes is reported, and experience with hydrophilic expanders and inflatable silicone expanders is reviewed. CONCLUSION--Although serially fitted solid shapes in the orbit lead to increased expansion of orbital soft tissue and bone compared with no orbital implant, further orbital tissue enlargement is required. The inflatable silicone expander may allow more rapid and extensive orbital tissue expansion, but design changes are needed to achieve this. PMID:7662633

  9. Genetic Aspects of Congenital and Idiopathic Scoliosis

    PubMed Central

    Giampietro, Philip F.

    2012-01-01

    Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the difficulties in understanding their genetic basis that investigators face. Despite the differences between these two conditions there is observational and experimental evidence supporting common genetic mechanisms. This paper focuses on the clinical features of both CS and IS and highlights genetic and environmental factors which contribute to their occurrence. It is anticipated that emerging genetic technologies and improvements in phenotypic stratification of both conditions will facilitate improved understanding of the genetic basis for these conditions and enable targeted prevention and treatment strategies. PMID:24278672

  10. Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

    PubMed Central

    Engel, Andrew G.; Shen, Xin-Ming; Selcen, Duygu; Sine, Steven M.

    2015-01-01

    The congenital myasthenic syndromes are diverse disorders linked by abnormal signal transmission at the motor endplate that stem from defects in single or multiple proteins. Multiple endplate proteins are affected by mutations of single enzymes required for protein glycosylation, and deletion of PREPL exerts its effect by activating adaptor protein 1. Finally, neuromuscular transmission is also impaired in some congenital myopathies. The specific diagnosis of some syndromes is facilitated by clinical clues pointing to a disease gene. In absence of such clues, exome sequencing is a useful tool for finding the disease gene. Deeper understanding of disease mechanisms come from structural and in vitro electrophysiologic studies of the patient endplate, and from engineering the mutant and wild-type gene into a suitable expression system that can be interrogated by appropriate electrophysiologic and biochemical studies. Most CMS are treatable. Importantly, however, some medication beneficial in one syndrome can be detrimental in another. PMID:25792100

  11. Congenital, hypotonic-sclerotic muscular dystrophy.

    PubMed Central

    Furukawa, T; Toyokura, Y

    1977-01-01

    Four cases of congenital, hypotonic-sclerotic muscular dystrophy are presented. The patients showed clinically prominent features described by Ullrich, i.e. congenital muscle weakness, hypotonia, and hyperextensibility of distal joints, contractures of proximal joints, high-arched palate, hyperhidrosis, posterior protrusion of calcaneus, and no progression. Muscle biopsies revealed dystrophic changes. Ullrich suggested that this condition was a new entity, but the disease has received little attention. In the present cases superior intelligence and tendency to recurrent upper respiratory tract infections were stressed as characteristics of this disorder. Insufficient cellular immunity was suspected and this may contribute to the recurrent upper respiratory tract infections and pneumonia often observed. This disease is considered a distinct entity of multisystemic involvement inherited as an autosomal recessive trait. Images PMID:604494

  12. [Approach to congenital heart disease in adults].

    PubMed

    Alva Espinosa, Carlos

    2006-01-01

    After a few decades treating patients with congenital heart disease during childhood, we now face the problem of dealing with many of them as adults and few cases with disorders detected in adult life. The number of patients, with and without surgery is growing up rapidly. Conservatively speaking, there are in Mexico approximately 300 thousands patients with this condition, increasing by 15 thousands patients per year. In addition to the complexity of the congenital pathology, the knowledge of acquired diseases should be incorporated as well as the genetic advise, pregnancy care and specialized psychological support. The approach to these patients begins with stratification; diagnosis and treatment requiring a multidisciplinary, well informed and an capable to perform together medical team.

  13. [Educational program for congenital cardiopathy children's parents].

    PubMed

    Pino Armijo, Paola; Valdés Valenzuela, Carmen Gloria; Fajuri Moyano, Paula; Garrido Villablanca, Olga; Castillo Moya, Andrés

    2014-10-01

    The children with congenital heart disease are faced with a series of procedures in chronological sequence. Throughout this process the infant and their parents require timely information, education and preparation for discharge. However, the information about each of the aspects affected by the disease is usually addressed in isolation by different professionals and not as part of a comprehensive educational program. The educational program should consider the nature of the disease, of the users and educators during their planning and must be implemented by a multidisciplinary team, continuously during hospitalization and follow-up, using various teaching methods available, and incorporating the minimum content described in the literature. The objective of this review is to identify the dimensions and key elements to consider in the design of an educational program for parents of children with congenital heart disease based on the model of Kaufman.

  14. Screening, prevention, and treatment of congenital cytomegalovirus.

    PubMed

    Johnson, Julie; Anderson, Brenna

    2014-12-01

    Congenital cytomegalovirus (CMV) is a leading cause of permanent disability in children. The main source of maternal infection is from contact with young children. Primary maternal infection is diagnosed with demonstration of seroconversion or a positive CMV IgM in combination with a low-avidity CMV IgG. Fetal infection may be diagnosed with amniotic fluid polymerase chain reaction and culture. CMV-specific hyperimmune globulin has shown promise as a possible means to prevent congenital infection; large randomized trials are ongoing. To date, the only effective means of prevention is through reducing exposure to the virus. Rates of maternal infection may be reduced through education regarding sources of infection and improved hygiene.

  15. Congenital lobar emphysema: Pitfalls in diagnosis.

    PubMed

    Chinya, Abhishek; Pandey, Prince Raj; Sinha, Shandip Kumar; Sarin, Yogesh Kumar

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare but life-threatening congenital anomaly leading to respiratory distress in early childhood. Diagnosis requires a strong clinical suspicion. We report a case of a 31/2-month-old infant who was initially diagnosed with pneumonia requiring multiple hospital admissions. After computed tomography of the thorax, a diagnosis on CLE was made. The child was planned for surgery in the next available routine operation theatre. However, suddenly in the evening, she developed respiratory distress and needed emergency surgical intervention. The child improved dramatically after surgery, and the postoperative period was uneventful. Early diagnosis and treatment in such cases can lead to dramatic results. PMID:27185998

  16. Vestibular failure in children with congenital deafness.

    PubMed

    Kaga, Kimitaka; Shinjo, Yukiko; Jin, Yulian; Takegoshi, Hideki

    2008-09-01

    Congenitally deaf infants and children commonly suffer vestibular failure in both ears, and impairment of postural control, locomotion, and gait. The development of gross motor functions, such as head control, sitting, and walking is likely to be delayed, but fine motor function is usually preserved unless disorders of the central nervous system are present. These children can eventually catch up with their normal peers in terms of development and growth as a result of central vestibular compensation. The visual and somatosensory systems, pyramidal and extrapyramidal motor system (cerebellum, basal ganglia, cerebrum) and intellectual development, compensate for vestibular failure in infants and children with congenitally hypoactive or absent function of the semicircular canals and otolith organs.

  17. Marital stability and congenital heart disease.

    PubMed

    Silbert, A R; Newburger, J W; Fyler, D C

    1982-06-01

    The incidence of divorce or legal separation was studied in 438 families of children born with heart disease who entered the New England Regional Infant Cardiac Program between 1968 and 1973. The parents were interviewed when the children were 5 1/2 years old. The rate of divorce in 438 families of children with critical congenital heart disease was not significantly different from the rate in two comparison groups: (1) 25 families of children whose cardiac defect was spontaneously cured, and (2) 26 families of children catheterized in infancy for suspected cardiac defect but who were found to be free of heart disease. Rates of divorce or legal separation for the three groups were: critical congenital heart disease, 12.1%, spontaneously cured, 4.2% free of heart disease, 11.5% these rates were not significantly different. The average national divorce rate was 20.3% for the same period.

  18. Congenital diaphragmatic hernia in the older child.

    PubMed Central

    Booker, P D; Meerstadt, P W; Bush, G H

    1981-01-01

    Five children aged between 9 months and 7 years were admitted to hospital each with an unsuspected congenital diaphragmatic hernia. In 4 the diagnosis was pneumonia with a secondary pleural effusion or lung abscess. Initial investigations were unhelpful to the admitting physician; two of the children had had a previous chest x-ray which was normal. For 3 children the correct diagnosis was only made at necropsy. It is suggested that the possibility of a congenital diaphragmatic hernia be considered in any patient who has an indefinable diaphragm and cystic lesion on his chest x-ray film. Barium studies with the patient in Trendelenburg's position are of value in excluding the presence of bowel in the chest. Images Fig. 1 Fig. 2 PMID:7247437

  19. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence.

  20. Congenital Nephrotic Syndrome – Finish Type

    PubMed Central

    Spahiu, Lidvana; Merovci, Besart; Jashari, Haki; Këpuska, Arbnore Batalli; Rugova, Blerta Elezi

    2016-01-01

    Introduction: Identification of the NPHS1 gene, which encodes nephrin, was followed by many studies demonstrating its mutation as a frequent cause of congenital nephrotic syndrome (CNS). While this gene is found in 98% of Finnish children with this syndrome, non-Finnish cases have lower level of incidence ranging from 39 to 80%. Case report: This report describes the clinical presentation of a two-week-old neonate who presented with periorbital and lower extremities edema, abdominal distention, heavy proteinuria, serum hypoproteinemia and failure to thrive. Genetic analysis revealed NHPS1 gene mutation leading to CNS-Finnish type diagnosis. Conclusion: Through this case we want to create awareness about diagnosis and treatment challenges in developing countries for rare congenital diseases. PMID:27594755

  1. Alphafetoprotein in screening for congenital hypothyroidism.

    PubMed

    Shawky, R M; Abd el-Fattah, S; el-din Azzam, M E; Rafik, M M; Osman, A

    2001-01-01

    This study was conducted on 500 full-term neonates and 25 older patients with congenital hypothyroidism (CH), newly or previously diagnosed. Alphafetoprotein (AFP) was elevated in two neonates. In one, persistent elevation of AFP and thyroid stimulating hormone (TSH) with low thyroxine (T4) were found (congenital hypothyroidism). In the other, AFP, TSH and T4 levels normalized (transient hypothyroidism). The mean AFP level in new CH patients was significantly higher than in previously diagnosed patients, and was higher in CH patients than in controls. Significant relationships were found between AFP and T4, AFP and TSH, and AFP and age. AFP is a sensitive indicator of thyroid status and can be used as a screening test for hypothyroidism from the first day of life and in follow-up of CH patients.

  2. Congenital abnormalities of the posterior fossa.

    PubMed

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. PMID:25590398

  3. Congenital Malalignment of the Great Toenail.

    PubMed

    Fierro-Arias, Leonel; Morales-Martínez, André; Zazueta-López, Rosa María; Ramírez-Dovala, Silvia; Bonifaz, Alexandro; Ponce-Olivera, Rosa María

    2015-01-01

    Congenital malalignment of the great toenail (CMA) is a disorder of the anatomic orientation of the ungual apparatus, in which the longitudinal axis of the nail plate is not parallel with the axis of the distal phalanx but is deflected sideways. This disorder is understood to arise from multiple factors. Although many theories have been proposed about its origin, its pathogenesis is not fully known. Besides the cosmetic impact, this disorder causes such problems in the medium and long term as onychocryptosis and difficulty in motion. Some cases may regress spontaneously, although persistent cases may require a specialized surgical approach. Congenital malalignment of the great toenail is poorly understood and described medical condition that is often treated incorrectly; thus, reviewing the subject is important. A symptombased clinical classification system is proposed to guide diagnosis and treatment modality decisions.

  4. Congenital autonomic dysfunction with universal pain loss.

    PubMed

    Axelrod, F B; Cash, R; Pearson, J

    1983-07-01

    Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.

  5. Formulation of blade-flutter spectral analyses in stationary reference frame

    NASA Technical Reports Server (NTRS)

    Kurkov, A. P.

    1984-01-01

    Analytic representations are developed for the discrete blade deflection and the continuous tip static pressure fields in a stationary reference frame. Considered are the sampling rates equal to the rotational frequency, equal to blade passing frequency, and for the pressure, equal to a multiple of the blade passing frequency. For the last two rates the expressions for determining the nodal diameters from the spectra are included. A procedure is presented for transforming the complete unsteady pressure field into a rotating frame of reference. The determination of the true flutter frequency by using two sensors is described. To illustrate their use, the developed procedures are used to interpret selected experimental results.

  6. Solution of the stationary 2D inverse heat conduction problem by Treffetz method

    NASA Astrophysics Data System (ADS)

    Cialkowski, Michael J.; Frąckowiak, Andrzej

    2002-05-01

    The paper presents analysis of a solution of Laplace equation with the use of FEM harmonic basic functions. The essence of the problem is aimed at presenting an approximate solution based on possibly large finite element. Introduction of harmonic functions allows to reduce the order of numerical integration as compared to a classical Finite Element Method. Numerical calculations conform good efficiency of the use of basic harmonic functions for resolving direct and inverse problems of stationary heat conduction. Further part of the paper shows the use of basic harmonic functions for solving Poisson’s equation and for drawing up a complete system of biharmonic and polyharmonic basic functions

  7. A Balanced-pressure Sliding Seal for Transfer of Pressurized Air Between Stationary and Rotating Parts

    NASA Technical Reports Server (NTRS)

    Curren, Arthur N; Cochran, Reeves P

    1957-01-01

    A combination sliding-ring and pressure-balancing seal capable of transferring pressurize air from stationary to rotating parts was developed and experimentally investigated at sliding velocities and cooling-air pressures up to 10,000 feet per minute and 38.3 pounds per square inch absolute, respectively. Leakage of cooling air was completely eliminated with an expenditure of balance air less than one-fourth the leakage loss of air from labyrinth seals under the same conditions. Additional cooling of the carbon-base seal rings was required, and the maximum wear rate on the rings was about 0.0005 inch per hour.

  8. Clock synchronization by the Symphonie and Laser Synchronization from Stationary Orbit (LASSO) geostationary satellites

    NASA Astrophysics Data System (ADS)

    Brunet, M.

    The use of atomic clocks is described, and the use of satellites to assure their intercontinental synchronization is discussed. The Symphonie satellites assure a transatlantic (France-Canada) synchronization in the 4 to 6 GHz band with nanosec accuracy. Atmospheric and relativistic effects are corrected to within 5 nsec, but instrument delay calibration remains a problem. The Laser Synchronization from Stationary Orbit (LASSO) experiment is based on the measurement of the time it takes a laser pulse to complete the return journey from a ground station to the satellite. The LASSO was designed for the SIRIO-2 satellite, whose launch failed, and is now proposed for Meteosat-2.

  9. Novel stationary phases based on asphaltenes for gas chromatography.

    PubMed

    Boczkaj, Grzegorz; Momotko, Malwina; Chruszczyk, Dorota; Przyjazny, Andrzej; Kamiński, Marian

    2016-07-01

    We present the results of investigations on the possibility of the application of the asphaltene fraction isolated from the oxidized residue from vacuum distillation of crude oil as a stationary phase for gas chromatography. The results of the investigation revealed that the asphaltene stationary phases can find use for the separation of a wide range of volatile organic compounds. The experimental values of Rohrschneider/McReynolds constants characterize the asphaltenes as stationary phases of medium polarity and selectivity similar to commercially available phases based on alkyl phthalates. Isolation of asphaltenes from the material obtained under controlled process conditions allows the production of a stationary phase having reproducible sorption properties and chromatographic columns having the same selectivity. Unique selectivity and high thermal stability make asphaltenes attractive as a material for stationary phases for gas chromatography. A low production cost from a readily available raw material (oxidized petroleum bitumens) is an important economic factor in case of application of the asphaltene stationary phases for preparative and process separations.

  10. Influence of Stationary Crossflow Modulation on Secondary Instability

    NASA Technical Reports Server (NTRS)

    Choudhari, Meelan M.; Li, Fei; Paredes, Pedro

    2016-01-01

    A likely scenario for swept wing transition on subsonic aircraft with natural laminar flow involves the breakdown of stationary crossflow vortices via high frequency secondary instability. A majority of the prior research on this secondary instability has focused on crossflow vortices with a single dominant spanwise wavelength. This paper investigates the effects of the spanwise modulation of stationary crossflow vortices at a specified wavelength by a subharmonic stationary mode. Secondary instability of the modulated crossflow pattern is studied using planar, partial-differential-equation based eigenvalue analysis. Computations reveal that weak modulation by the first subharmonic of the input stationary mode leads to mode splitting that is particularly obvious for Y-type secondary modes that are driven by the wall-normal shear of the basic state. Thus, for each Y mode corresponding to the fundamental wavelength of results in unmodulated train of crossflow vortices, the modulated flow supports a pair of secondary modes with somewhat different amplification rates. The mode splitting phenomenon suggests that a more complex stationary modulation such as that induced by natural surface roughness would yield a considerably richer spectrum of secondary instability modes. Even modest levels of subharmonic modulation are shown to have a strong effect on the overall amplification of secondary disturbances, particularly the Z-modes driven by the spanwise shear of the basic state. Preliminary computations related to the nonlinear breakdown of these secondary disturbances provide interesting insights into the process of crossflow transition in the presence of the first subharmonic of the dominant stationary vortex.

  11. Novel stationary phases based on asphaltenes for gas chromatography.

    PubMed

    Boczkaj, Grzegorz; Momotko, Malwina; Chruszczyk, Dorota; Przyjazny, Andrzej; Kamiński, Marian

    2016-07-01

    We present the results of investigations on the possibility of the application of the asphaltene fraction isolated from the oxidized residue from vacuum distillation of crude oil as a stationary phase for gas chromatography. The results of the investigation revealed that the asphaltene stationary phases can find use for the separation of a wide range of volatile organic compounds. The experimental values of Rohrschneider/McReynolds constants characterize the asphaltenes as stationary phases of medium polarity and selectivity similar to commercially available phases based on alkyl phthalates. Isolation of asphaltenes from the material obtained under controlled process conditions allows the production of a stationary phase having reproducible sorption properties and chromatographic columns having the same selectivity. Unique selectivity and high thermal stability make asphaltenes attractive as a material for stationary phases for gas chromatography. A low production cost from a readily available raw material (oxidized petroleum bitumens) is an important economic factor in case of application of the asphaltene stationary phases for preparative and process separations. PMID:27144876

  12. Pregnancy and Adult Congenital Heart Disease.

    PubMed

    Bhatt, Ami B; DeFaria Yeh, Doreen

    2015-11-01

    Most women with known congenital heart disease can have successful pregnancy, labor, and delivery. Preconception assessment is essential in understanding anatomy, repairs, and current physiology, all of which can influence risk in pregnancy. With that foundation, a multidisciplinary cardio-obstetric team can predict and prepare for complications that may occur with superimposed hemodynamic changes of pregnancy. Individuals with Eisenmenger syndrome, pulmonary hypertension, cyanosis, significant left heart obstruction, ventricular dysfunction, or prior major cardiac event are among the highest risk for complications.

  13. Congenital malformations of the skull and meninges.

    PubMed

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  14. [Congenital hepatic fibrosis. Study of 26 cases].

    PubMed

    Ramírez Mayans, J A; Mata Rivera, N; Mora Tiscareño, M A; Cervantes Bustamante, R; Vargas Gómez, M A; Aguinaga, V; Rocío, G

    1994-01-01

    We studied 26 children with congenital hepatic fibrosis during the period 1971-1993. About half of the children were about the 6 years old. Only two had brothers with same disease. The chief clinical manifestation was hematemesis associated or not with liver enlargement, predominantly of left lobe. Only one case showed fever and cholangitis. Liver function tests were usually normal. Twenty-two children had portal hypertension. Liver biopsy was of definitive for diagnosis. Seven children died.

  15. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-01-01

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered. PMID:26399846

  16. Congenital muscular torticollis: experience of 14 cases.

    PubMed

    Das, B K; Matin, A; Hassan, G Z; Hossain, M Z; Zaman, M A

    2010-10-01

    Congenital Muscular Torticollis (CMT) is a postural deformity of head and neck detected at birth or shortly after birth, primarily resulting from unilateral shortening of Sternocleidomastoid Muscle (SCM). In neonates and infants, patient may cure conservatively by physiotherapy but surgery is the treatment of choice for children and adolescents. There are various techniques of surgery. Here we show our experience regarding management of congenital muscular torticollis. In the present retrospective case series, fourteen patients of congenital muscular torticollis were treated. The cases were enrolled between Nov' 2005 to Oct' 2007 in Bangabandhu Sheikh Mujib Medical University, Gonosasthaya Somaj Vittik Medical College Hospital, Dhaka and different private clinics of Dhaka city of Bangladesh. Neonates and infants were treated conservatively with physiotherapy and others treated surgically by transection of both sternal and clavicular head of SCM under general anesthesia. Operated patients were released on following post operative day with advised to do physiotherapy. Patients age range from 7 days to 15 years of which ten were female and four male. SCM was shortened in all cases (8 on right side and 6 on left side). Eleven were female and three male. Of 14 patients, 2 neonates, 7 infants and 5 were more than 1 year age. There was no associated anomaly. Out of 9 neonates and infants 8 cured conservatively with physiotherapy and another one significantly improved. Six were treated surgically including one failed physiotherapy. Post operative period was uneventful and there was no complication. Results were evaluated clinically and comments of peers. Most of the patient of congenital muscular torticollis can be treated conservatively during infancy. Division of both sternal and clavicular head of SCM is easy and safe surgical technique for the treatment of CMT of older children and adolescents.

  17. Recurrent congenital heart block in neonatal lupus.

    PubMed

    Escobar, Maria C; Gómez-Puerta, José A; Albert, Dimpna; Ferrer, Queralt; Girona, Josep

    2007-07-01

    Congenital heart block (CHB) is the main complication of neonatal lupus (NL) and is strongly associated with the presence of anti-SSA/Ro and anti-SSB/La antibodies. The recurrence of CHB in subsequent pregnancies in mothers with these antibodies is uncommon, occurring in approximately 15% of cases. We describe here a case of recurrent CHB in a previously asymptomatic mother with Sjögren syndrome and discuss the current strategies for the prevention and treatment of CHB in NL.

  18. Congenital lobar emphysema in neonates: Anaesthetic challenges.

    PubMed

    Nath, Mridu Paban; Gupta, Sachin; Kumar, Ashish; Chakrabarty, Anulekha

    2011-05-01

    Congenital lobar emphysema (CLE) is a potentially reversible, though possibly life-threatening, cause of respiratory distress in the neonate. It poses dilemma in diagnosis and management. We are presenting a 6-week-old baby who presented with a sudden onset of respiratory distress related to CLE affecting the left upper lobe. Lobectomy was performed under general anaesthesia with one lung ventilation. The details of anaesthetic challenges and management are described here. PMID:21808403

  19. Congenitally absent lumbar pedicle: a reappraisal

    SciTech Connect

    Wortzman, G.; Steinhardt, M.I.

    1984-09-01

    Three patients who had a diagnosis of congenitally absent lumbar pedicle underwent CT examination. Findings showed that each patient had an aberrant hypoplastic pedicle plus a retroisthmic defect in their ipsilateral lamina rather than an absent pedicle. Axial CT was the diagnostic modality of choice; reformated images were of little value. The differential diagnosis to be considered from the findings of plain film radiography includes pediculate thinning, neoplastic disease, neurofibroma, mesodermal dysplasia associated with neurofibromatosis, and vascular anomalies.

  20. Severe congenital malaria acquired in utero.

    PubMed

    Poespoprodjo, Jeanne R; Hasanuddin, Afdal; Fobia, Wendelina; Sugiarto, Paulus; Kenangalem, Enny; Lampah, Daniel A; Tjitra, Emiliana; Price, Ric N; Anstey, Nicholas M

    2010-04-01

    Vertical transmission of Plasmodium falciparum is under-recognized and usually associated with asymptomatic low-level parasitemia at birth. We report symptomatic congenital malaria presenting as a neonatal sepsis syndrome. The presence at birth of a high asexual parasitemia, gametocytemia, and splenomegaly indicated in utero rather than intrapartum transmission. The neonate was successfully treated with intravenous artesunate followed by oral dihydroartemisinin-piperaquine, without apparent adverse effects. PMID:20348499