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Sample records for complete congenital stationary

  1. TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

    PubMed Central

    Audo, Isabelle; Kohl, Susanne; Leroy, Bart P.; Munier, Francis L.; Guillonneau, Xavier; Mohand-Saïd, Saddek; Bujakowska, Kinga; Nandrot, Emeline F.; Lorenz, Birgit; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Bernd, Antje; Antonio, Aline; Moskova-Doumanova, Veselina; Lancelot, Marie-Elise; Poloschek, Charlotte M.; Drumare, Isabelle; Defoort-Dhellemmes, Sabine; Wissinger, Bernd; Léveillard, Thierry; Hamel, Christian P.; Schorderet, Daniel F.; De Baere, Elfride; Berger, Wolfgang; Jacobson, Samuel G.; Zrenner, Eberhart; Sahel, José-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

    2009-01-01

    Night vision requires signaling from rod photoreceptors to adjacent bipolar cells in the retina. Mutations in the genes NYX and GRM6, expressed in ON bipolar cells, lead to a disruption of the ON bipolar cell response. This dysfunction is present in patients with complete X-linked and autosomal-recessive congenital stationary night blindness (CSNB) and can be assessed by standard full-field electroretinography (ERG), showing severely reduced rod b-wave amplitude and slightly altered cone responses. Although many cases of complete CSNB (cCSNB) are caused by mutations in NYX and GRM6, in ∼60% of the patients the gene defect remains unknown. Animal models of human diseases are a good source for candidate genes, and we noted that a cCSNB phenotype present in homozygous Appaloosa horses is associated with downregulation of TRPM1. TRPM1, belonging to the family of transient receptor potential channels, is expressed in ON bipolar cells and therefore qualifies as an excellent candidate. Indeed, mutation analysis of 38 patients with CSNB identified ten unrelated cCSNB patients with 14 different mutations in this gene. The mutation spectrum comprises missense, splice-site, deletion, and nonsense mutations. We propose that the cCSNB phenotype in these patients is due to the absence of functional TRPM1 in retinal ON bipolar cells. PMID:19896113

  2. Identification of a new mutant allele, Grm6nob7, for complete congenital stationary night blindness

    PubMed Central

    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 Grm6nob3 mutants and measured the ERGs in offspring. All the offspring lacked the b-wave, indicating that nob7 is a new allele for Grm6: Grm6nob7. Sequence analyses of Grm6nob7 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 Grm6nob7 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 Grm6nob7 retina. These results indicate that Grm6nob7 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. 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

  4. Lrit3 Deficient Mouse (nob6): A Novel Model of Complete Congenital Stationary Night Blindness (cCSNB)

    PubMed Central

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

    2014-01-01

    Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knock-out mouse, a model to study the function and the pathogenic mechanism of LRIT3. We confirm that the insertion of a Bgeo/Puro cassette in the knock-out allele introduces a premature stop codon, which presumably codes for a non-functional protein. The mouse line does not harbor other mutations present in common laboratory mouse strains or in other known cCSNB genes. Lrit3 mutant mice exhibit a so-called no b-wave (nob) phenotype with lacking or severely reduced b-wave amplitudes in the scotopic and photopic electroretinogram (ERG), respectively. Optomotor tests reveal strongly decreased optomotor responses in scotopic conditions. No obvious fundus auto-fluorescence or histological retinal structure abnormalities are observed. However, spectral domain optical coherence tomography (SD-OCT) reveals thinned inner nuclear layer and part of the retina containing inner plexiform layer, ganglion cell layer and nerve fiber layer in these mice. To our knowledge, this is the first time that SD-OCT technology is used to characterize an animal model for CSNB. This phenotype is noted at 6 weeks and at 6 months. The stationary nob phenotype of mice lacking Lrit3, which we named nob6, confirms the findings previously reported in patients carrying LRIT3 mutations and is similar to other cCSNB mouse models. This novel mouse model will be useful for investigating the pathogenic mechanism(s) associated with LRIT3 mutations and clarifying the role of LRIT3 in the ON-bipolar cell signaling cascade. PMID:24598786

  5. Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

    PubMed Central

    Audo, Isabelle; Bujakowska, Kinga; Orhan, Elise; Poloschek, Charlotte M.; Defoort-Dhellemmes, Sabine; Drumare, Isabelle; Kohl, Susanne; Luu, Tien D.; Lecompte, Odile; Zrenner, Eberhart; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Michiels, Christelle; Audier, Claire; Letexier, Mélanie; Saraiva, Jean-Paul; Leroy, Bart P.; Munier, Francis L.; Mohand-Saïd, Saddek; Lorenz, Birgit; Friedburg, Christoph; Preising, Markus; Kellner, Ulrich; Renner, Agnes B.; Moskova-Doumanova, Veselina; Berger, Wolfgang; Wissinger, Bernd; Hamel, Christian P.; Schorderet, Daniel F.; De Baere, Elfride; Sharon, Dror; Banin, Eyal; Jacobson, Samuel G.; Bonneau, Dominique; Zanlonghi, Xavier; Le Meur, Guylene; Casteels, Ingele; Koenekoop, Robert; Long, Vernon W.; Meire, Francoise; Prescott, Katrina; de Ravel, Thomy; Simmons, Ian; Nguyen, Hoan; Dollfus, Hélène; Poch, Olivier; Léveillard, Thierry; Nguyen-Ba-Charvet, Kim; Sahel, José-Alain; Bhattacharya, Shomi S.; Zeitz, Christina

    2012-01-01

    Congenital stationary night blindness (CSNB) is a heterogeneous retinal disorder characterized by visual impairment under low light conditions. This disorder is due to a signal transmission defect from rod photoreceptors to adjacent bipolar cells in the retina. Two forms can be distinguished clinically, complete CSNB (cCSNB) or incomplete CSNB; the two forms are distinguished on the basis of the affected signaling pathway. Mutations in NYX, GRM6, and TRPM1, expressed in the outer plexiform layer (OPL) lead to disruption of the ON-bipolar cell response and have been seen in patients with cCSNB. Whole-exome sequencing in cCSNB patients lacking mutations in the known genes led to the identification of a homozygous missense mutation (c.1807C>T [p.His603Tyr]) in one consanguineous autosomal-recessive cCSNB family and a homozygous frameshift mutation in GPR179 (c.278delC [p.Pro93Glnfs∗57]) in a simplex male cCSNB patient. Additional screening with Sanger sequencing of 40 patients identified three other cCSNB patients harboring additional allelic mutations in GPR179. Although, immunhistological studies revealed Gpr179 in the OPL in wild-type mouse retina, Gpr179 did not colocalize with specific ON-bipolar markers. Interestingly, Gpr179 was highly concentrated in horizontal cells and Müller cell endfeet. The involvement of these cells in cCSNB and the specific function of GPR179 remain to be elucidated. PMID:22325361

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

    PubMed Central

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

    2013-01-01

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

  7. 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 ...

  8. 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

  9. 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

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

    PubMed Central

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

    2015-01-01

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

  11. 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

  12. Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness.

    PubMed

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

    2012-06-22

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

  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. PMID:27601873

  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. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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. PMID:23778189

  1. [Congenital tracheal stenosis due to complete circular rings. Tracheoplasty using autologous pericardium].

    PubMed

    Chambran, P; Binet, J P; Narcy, P; Bruniaux, J; Nottin, R; Rousselot, J M; Pernot, C

    1988-10-15

    The case of a 9-month old infant with congenital tracheal stenosis due to complete tracheal rings, associated with an aberrant left pulmonary artery is reported. Surgery was carried out under extracorporeal circulation to ensure adequate oxygen supply. Extubation, thus made possible, enabled the lesion to located accurately by bronchoscopy. Tracheoplasty by means of an autologus pericardial patch was performed. The quality of the repair was checked by a second bronchoscopy. The long-term result is satisfactory. PMID:2978325

  2. 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.

  3. 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

  4. 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

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

    PubMed

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

    2015-05-15

    The CACNA1F gene encodes a member of the alpha-1F subunit family in the voltage-dependent calcium channel (Cav1.4) complex. Mutations in this gene result in incomplete congenital stationary night blindness (iCSNB2) in humans. And Cav1.4 mutation could affect the functions of the skeletal muscle. This study investigated the role of Cacna1f mutations in alteration of the skeletal muscle functions in a Cacna1f mutation rat model (Cacna1f(CSNB2) rat). We found that the muscle endurance behaviors of Cacna1f(CSNB2) rats were significantly lower than those of the wild-type rats. The high-frequency fatigue resistance of the soleus muscle was decreased in Cacna1f(CSNB2) rats under continuous tetanic stimulation. The expression levels of the syntaxin (SYN) proteins in the soleus of the Cacna1f(CSNB2) rats were lower than those of wild-type rats. SYN was expressed in the soleus muscle, but not in the extensor digitorum longus. The Cav1.4 protein was not detected in the skeletal muscle of Cacna1f(CSNB2) rats. The Cacna1f mRNA level in the soleus of Cacna1f(CSNB2) rats was decreased compared with that in wild-type rats. This study demonstrated for the first time that the Cacna1f mutation reduces the function of slow-twitch skeletal muscle. And it also demonstrated that the Cacna1f gene affects synapse-associated protein expression, which may block the signal transmission in synaptic connectivity of the retina and skeletal muscle in Cacna1f-mutant rats. PMID:25748727

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

    PubMed

    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

  7. 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. PMID:12428209

  8. [Anesthesia Management for Primary Cleft Lip Closure in an Infant with Congenital Total Length Complete Tracheal Rings].

    PubMed

    Yoshinaga, Junichi; Miyazawa, Noriko; Hanzawa, Atsushi; Miwa, Sakurako; Oyama, Nami; Yamamoto, Shinichi

    2015-06-01

    Complete tracheal ring causes congenital tracheal stenosis in neonates and infants. We have to prevent further tracheal stenosis in perioperative period. This is a case report of an infant with congenital tracheal stenosis due to complete tracheal ring who underwent primary cleft lip closure under general anesthesia. An 8 month-old boy was scheduled for bilateral cleft lip closure. His first operation at two months was canceled because of unsuccessful intubation in previous hospital. He came to our hospital to seek a second opinion. His CT scan showed long segment stenosis of the trachea below glottis. The tracheobronchial endoscopy showed complete tracheal rings 1.5 cm below glottis to the bifurcation. Considering his aspiration episode, we decided to do the cleft lip closure promptly after examinations. We chose an ID 3.0 mm RAE tracheal tube, which is commercially narrowest We intubated 2 cm below glottis, and confirmed that the tip did not touch narrowed trachea with endoscope. This tube was fixed in the center of the mandible and packed with gauze. He was discharged on 8 POD without complication. CT scan and its integrated 3 D image of the trachea were useful to understand the approximate structure. However endoscopic examination allowed more detailed structure-measurement below glottis. PMID:26437553

  9. 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

  10. Techniques for transcatheter recanalization of completely occluded vessels and pathways in patients with congenital heart disease

    PubMed Central

    Latson, Larry A; Qureshi, Athar M

    2010-01-01

    Occlusions of major vessels in patients with congenital heart disease may occur due to a variety of factors. These occlusions are often felt to be best addressed surgically; however, we and others have been successful in recanalizing most of these vessels in the catheterization laboratory. Most of these patients will require multiple procedures in the catheterization laboratory to ensure vessel patency and to facilitate vessel growth. Physicians performing the procedure should have a thorough understanding of the anatomic considerations for the intended procedure and have access to a variety of devices and equipment to optimize the result of the procedure. In this article, we review some of the technical aspects that are vital for the success of the procedure. PMID:21234193

  11. 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 ...

  12. Congenital sternoclavicular dermoid sinus.

    PubMed

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  13. 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 ...

  14. 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

  15. 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 ...

  16. Congenital cataract

    MedlinePlus

    ... of the following birth defects: Chondrodysplasia syndrome Congenital rubella Conradi-Hünermann syndrome Down syndrome (trisomy 21) Ectodermal ... Images Eye Cataract - close-up of the eye Rubella syndrome Cataract References Dahan E. Pediatric cataract surgery. ...

  17. Congenital syphilis

    MedlinePlus

    ... fact that this disease can be cured with antibiotics if caught early, rising rates of syphilis among pregnant women in the United States have increased the number of infants born with congenital syphilis.

  18. [Congenital thrombophilia].

    PubMed

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  19. Congenital toxoplasmosis

    MedlinePlus

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  20. Congenital rubella

    MedlinePlus

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

  1. 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 ...

  2. 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

  3. [Congenital syphilis].

    PubMed

    Tabák, Réka; Tabák, Adám; Várkonyi, Viktória

    2010-01-10

    Syphilis has been a re-emerging disease in the past few decades. As a consequence, the prevalence of congenital syphilis is expected to be on the rise. Maternal syphilis may be related to several pathologies, such as miscarriage, stillbirth, or congenital syphilis in the child. Infants that acquire syphilis in utero are frequently asymptomatic, and the organ damage caused by the infection may be apparent only years later. Syphilis is a curable disease, and most of its complications in the infant can be prevented by screening and treating the mother. Every newborn potentially infected should be treated with penicillin immediately starting on the day of birth. PMID:20061233

  4. 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

  5. Congenital Defects.

    ERIC Educational Resources Information Center

    Goldman, Allen S.; And Others

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

  6. Congenital 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. PMID:26704658

  7. Congenital Adrenal Hyperplasia

    MedlinePlus

    MENU Return to Web version Congenital Adrenal Hyperplasia Overview What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia, or CAH, is a disorder that affects the adrenal glands. The adrenal ...

  8. 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

  9. Congenital Anomalies in Infant with Congenital Hypothyroidism

    PubMed Central

    Razavi, Zahra; Yavarikia, Alireza; Torabian, Saadat

    2012-01-01

    Objective Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. Methods The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life. Results A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males) were recruited during the period between May 2006-2010. Overall, 30 (20%) infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1%) had congenital cardiac anomalies such as: ASD (n=3), VSD (n=2), PS (n =1), PDA (n=1). Three children (2.6%) had developmental dysplasia of the hip (n=3). Conclusion The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies. PMID:23074545

  10. 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

  11. Congenital protein hypoglycosylation diseases

    PubMed Central

    Sparks, Susan E

    2012-01-01

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

  12. 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 ...

  13. Congenital fibrosarcoma in complete remission with Somatostatin, Bromocriptine, Retinoids, Vitamin D3, Vitamin E, Vitamin C, Melatonin, Calcium, Chondroitin sulfate associated with low doses of Cyclophosphamide in a 14-year Follow up.

    PubMed

    Di Bella, Giuseppe; Toscano, Rosilde; Ricchi, Alessandro; Colori, Biagio

    2015-01-01

    At birth, a male child presented a 6 cm tumour in the right leg. The tumour was partially removed after just 12 days. Histology showed a congenital fibrosarcoma associated with reactive lymphadenitis. A first cycle of adjuvant chemotherapy did not prevent the rapid progression of the disease. Subsequent evaluation for surgical removal raised serious concerns due to the need for a major operation involving total amputation of the right leg and hemipelvectomy. Since surgery could not exclude the possibility of disease recurrence and since the traditional cycles of chemotherapy did not offer any possibility of a cure, the parents opted for the Di Bella Method. The combined use of Somatostatin, Melatonin, Retinoids solubilized in Vit. E, Vit. C, Vit. D3, Calcium, and Chondroitin sulfate associated with low doses of Cyclophosphamide resulted in a complete objective response, still present 14 years later, with no toxicity and without the need for hospitalization, allowing a normal quality of life and perfectly normal adolescent psycho-physical development. PMID:26921571

  14. Congenital neuroblastoma

    PubMed Central

    Evans, A. R.

    1965-01-01

    The clinical histories and post-mortem findings in five cases of neuroblastoma are described, and an account given of the microscopic characteristics of the tumours. In four of the cases the tumour was present at birth and was probably so in the fifth case. In only one case was the presence of the malignant tumour a significant factor in causing death. The differential diagnosis of such tumours is discussed. The accumulated evidence of many recorded cases suggests that neuroblastoma, becoming manifest in the early months or weeks of life, and congenital tumour, would be included in such a group, and has an appreciably better prognosis than has this same tumour when it becomes manifest in later childhood. The literature is briefly reviewed to illustrate this aspect of prognosis and possible reasons for it are indicated. Images PMID:14247705

  15. Congenital Cholesteatoma.

    PubMed

    Walker, David; Shinners, Michael J

    2016-05-01

    Congenital cholesteatoma is one of the more common causes of the onset of childhood conductive hearing loss unrelated to middle ear effusion. If undiagnosed, the disease can progress to irreversibly destroy the conductive hearing architecture, as well as the surrounding skull base of the lateral temporal bone. When diagnosed early, the growth can be removed and the conductive hearing mechanism preserved in the vast majority of patients. Because most children are asymptomatic, the burden falls on primary care providers to perform pneumatic otoscopy and visualize all quadrants of the tympanic membrane even in young children who frequently resist attempts to conduct a thorough examination to rule out suspicious lesions. [Pediatr Ann. 2016;45(5):e167-e170.]. PMID:27171804

  16. Congenital amusia.

    PubMed

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. PMID:23622169

  17. Congenital hypothyroidism

    PubMed Central

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  18. Congenital Cytomegalovirus Infection: Audiologic Outcome

    PubMed Central

    Fowler, Karen B.

    2013-01-01

    The association between congenital cytomegalovirus (CMV) infection and sensorineural hearing loss (SNHL) was first described almost 50 years ago. Studies over the intervening decades have further described the relationship between congenital CMV infection and SNHL in children. However, congenital CMV infection remains a leading cause of SNHL in children in the United States and the world today. As more CMV infections are identified, it is important to recognize that infants who are born to seroimmune mothers are not completely protected from SNHL, although their hearing loss is often milder than that seen in CMV-infected infants following primary maternal infections. Late-onset and progressive hearing losses occur following congenital CMV infection, and CMV-infected infants should be evaluated regularly to provide for early detection of hearing loss and appropriate intervention. Fluctuating hearing loss that is not explained by concurrent middle ear infections is another characteristic of CMV-related hearing loss in children. Challenges still remain in predicting which children with congenital CMV infection will develop hearing loss and, among those who do develop loss, whether or not the loss will continue to deteriorate. PMID:24257423

  19. 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

  20. 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

  1. 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

  2. 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 ...

  3. 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 ...

  4. Congenital Heart Information Network

    MedlinePlus

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  5. Giant congenital nevus

    MedlinePlus

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

  6. Congenital heart disease

    MedlinePlus

    Congenital heart disease is a problem with the heart's structure and function that is present at birth. ... Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common ...

  7. Adult Congenital Heart Association

    MedlinePlus

    ... to ACHA Search The futures of adults with congenital heart disease made brighter by their pasts Get Involved 2016 ... conference theme is "The Changing Landscape of Adult Congenital Heart Disease." Join Us Help us improve the quality of ...

  8. 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.

  9. 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

  10. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  11. 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.

  12. Stationary mutation models.

    PubMed

    Simonsson, Ivar; Mostad, Petter

    2016-07-01

    Probability calculations for relationship inference based on DNA tests are often performed with computer packages such as Familias. When mutations are assumed to be a possibility, one may notice a curious and problematic effect of including untested parents: results tend to change slightly. In this paper, we trace this effect back to fundamental model-formulating issues which can only be resolved by using stationary mutation models. We present several methods for obtaining such stationary mutation matrices from original mutation matrices, and evaluate essential properties of these methods. Our conclusion is that typically, stationary mutation models can be obtained, but for many types of markers, it may be impossible to combine specific biologically reasonable requirements for a mutation matrix with the requirement of stationarity. PMID:27231805

  13. Asymptomatic Congenital Absence of Lateral Pedal Rays.

    PubMed

    Salvi, Andrea Emilio; Roda, Simone; Chessa, Angelo; Pezzoni, Massimo

    2016-01-01

    Complete absence of 1 or more pedal rays is a rare condition. In the present report, the case of an adult male with complete congenital absence of his right fourth and fifth pedal rays is described. The condition had been asymptomatic until he had sustained an acute third metatarsal fracture and was satisfactorily treated with cast immobilization. PMID:26359621

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

    PubMed

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

    2016-08-01

    Congenital defects of the pericardium are uncommon heart abnormalities. Most of the patients are asymptomatic and are usually diagnosed incidentally. Complications are more common in partial absence than in complete absence of the pericardium; thus, this congenital defect should be identified because of the associated risk of sudden death. We report the first mention in the literature, to our knowledge, of a 3-generation familial presentation of isolated congenital partial absence of the pericardium with similar physical examination and radiological findings. PMID:26774230

  15. Congenital Anomalies of the Nose.

    PubMed

    Funamura, Jamie L; Tollefson, Travis T

    2016-04-01

    Congenital anomalies of the nose range from complete aplasia of the nose to duplications and nasal masses. Nasal development is the result of a complex embryologic patterning and fusion of multiple primordial structures. Loss of signaling proteins or failure of migration or proliferation can result in structural anomalies with significant cosmetic and functional consequences. Congenital anomalies of the nose can be categorized into four broad categories: (1) aplastic or hypoplastic, (2) hyperplastic or duplications, (3) clefts, and (4) nasal masses. Our knowledge of the embryologic origin of these anomalies helps dictate subsequent work-up for associated conditions, and the appropriate treatment or surgical approach to manage newborns and children with these anomalies. PMID:27097134

  16. [Congenital ranula in a newborn].

    PubMed

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

    2007-05-01

    Ranulas are cystic lesions in the floor of the mouth. They are either retention cysts of the excretory duct of the sublingual gland or pseudocysts formed by excretory duct rupture followed by extravasation and accumulation of mucus in the surrounding tissue. We report the case of a premature newborn with a congenital ranula in the floor of mouth. The ranula caused no discomfort or complications, so that immediate intervention was not necessary. The cyst resolved completely by the age of 4 months. Complications in newborns especially include airway obstruction and feeding difficulties. Surgical treatment options are needle aspiration, excision of the ranula, marsupialization, cryosurgery, and--in addition to excision of the cyst--removal of the ipsilateral sublingual gland. Sclerotherapy has shown good results as well. As many congenital cysts resolve or rupture spontaneously, they should be observed for potential resolution for several months in uncomplicated cases. PMID:16770600

  17. 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. PMID:22217490

  18. HYDROCARBON POLLUTANTS FROM STATIONARY SOURCES

    EPA Science Inventory

    The report gives results of a study of hydrocarbon pollutants from stationary sources. Early in the study, readily available information was assembled on stationary sources of hydrocarbon emissions and effluents. Information was also obtained on process descriptions, operating pa...

  19. 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.

  20. [Congenital thoracic defects demonstrated by radiophotography].

    PubMed

    Jonescu, N; Ionescu, G C

    1991-01-01

    Costal congenital defects are malformations or anomalies of dimension, location or structure of the ribs, generated by disturbances of prenatal development. These anomalies appear in mesoderm which also gives rise to skeleton, muscles, serums, conjunctive tissues, circulatory system and urogenital apparatus. Of the 59,225 persons examined, 502 had costal congenital defects. The presence of azygos lobe (Wrisberg's lobe) in 158 cases (0.26%), of right aortic (arcs high dextroposition of cross) in 2 cases and (3%000) dextroposition of heart in 6 cases (10%000), out of which a situs inversus (complete cardiovascular transposition) were noticed as congenital defects with common origin in embryonic mesoderm. Medical radiophotography can be used as a method in detecting congenital costal defects. Other defects in other organs can be also detected. The congenital costal defects found in an rf examined population, representing a part of the total of congenital malformations, may be one of their indirect epidemiologic indices. Their existence may lead to the explanation of the symptomatology of the nervous compressive type on brachiocephalic vascular, etc. plexus. As some of the defects are an excess of osseous and cartilaginous matter, they may be used, when indicated, as autografts. PMID:1823198

  1. Giant congenital nevus

    MedlinePlus

    A congenital pigmented or melanocytic nevus is a dark-colored, often hairy, patch of skin. A congenital ... A nevus will appear as a dark-colored patch with any of the ... Hair Regular or uneven borders Smaller affected areas near the ...

  2. 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.

  3. 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 ...

  4. Congenital myasthenia gravis.

    PubMed

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  5. 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.

  6. 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.

  7. Congenital syphilis: subtle presentation of fulminant disease.

    PubMed

    Bennett, M L; Lynn, A W; Klein, L E; Balkowiec, K S

    1997-02-01

    The incidence of congenital syphilis has experienced a fourfold to fivefold increase in 6 years. It is a completely preventable disease whose clinical spectrum ranges from asymptomatic infection, to fulminant sepsis, to death. Congenital syphilis was diagnosed in a 6-week-old infant whose mother was negative for the disease by prenatal screen. The otherwise well child presented with a generalized, papulosquamous eruption of 3 weeks' duration but within hours multisystem failure developed from overwhelming treponemal sepsis. Factors related to increased incidence, problems in serodiagnosis, manifestations of the early versus late forms of the disease, and recommendations for evaluation and treatment are illustrated by this patient and are discussed. PMID:9039217

  8. 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 ...

  9. 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 ...

  10. 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: ...

  11. 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.

  12. 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

  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. 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…

  15. 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)…

  16. 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

  17. Genetics of Congenital Cataract.

    PubMed

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

    2016-01-01

    Congenital cataract is a type of cataract that presents at birth or during early childhood, and it is one of the most easily treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of 1-6 cases per 10,000 live births. Approximately 50% of all congenital cataract cases may have a genetic cause, and such cases are quite heterogeneous. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains the most common cause. All three types of Mendelian inheritance have been reported for cataract; however, autosomal dominant transmission seems to be the most frequent. The transparency and high refractive index of the lens are achieved by the precise architecture of fiber cells and homeostasis of the lens proteins in terms of their concentrations, stabilities, and supramolecular organization. Research on hereditary congenital cataract has led to the identification of several classes of candidate genes that encode proteins such crystallins, lens-specific connexins, aquaporin, cytoskeletal structural proteins, and developmental regulators. In this review, we highlight the identified genetic mutations that account for congenital nuclear cataract. PMID:27043388

  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. Impact of Congenital Heart Defects

    MedlinePlus

    ... complex lesions, limitations are common. Some children with congenital heart disease have developmental delay or other learning difficulties. What ... defects? Successful treatment requires highly specialized care. Severe congenital heart disease requires extensive financial resources both in and out ...

  20. Congenital heart defect - corrective surgery

    MedlinePlus

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm ... 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/ ...

  1. Poissonian steady states: From stationary densities to stationary intensities

    NASA Astrophysics Data System (ADS)

    Eliazar, Iddo

    2012-10-01

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

  2. 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

  3. Congenital midline nasofrontal masses.

    PubMed

    Saettele, Megan; Alexander, Alan; Markovich, Brian; Morelli, John; Lowe, Lisa H

    2012-09-01

    Congenital midline nasal masses are uncommon anomalies including nasal dermoids/epidermoids, nasal glial heterotopias and encephaloceles. These lesions can occur at the nasal bridge, extend intranasally and have intracranial extension with communication to the subarachnoid space. Therefore, accurate diagnosis of these lesions is critically important for presurgical planning and prevention of potentially fatal complications. Neuroimaging is essential in the evaluation of congenital midline nasal masses to identify the specific type of lesion, evaluate for the presence of intracranial extension and allow for appropriate presurgical planning. PMID:22648391

  4. Congenital hyperinsulinism with hyperammonaemia

    PubMed Central

    Pschibul, Alex; Müller, Jörg; Fahnenstich, Hubert

    2010-01-01

    Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia. Metabolic workup revealed hyperinsulinism combined with mild hyperammonaemia as well as elevation of α-ketoglutarate in urine. Genetic testing demonstrated a de novo mutation in exon 7 of the glutamate dehydrogenase gene on chromosome 10. Episodes of hypoglycaemia responded to treatment with diazoxide. The differential diagnosis, pathophysiology and treatment of congenital hyperinsulinism is discussed. PMID:22315648

  5. 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

  6. 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. PMID:24205484

  7. Early Developmental Outcomes of Children With Congenital HHV-6 Infection

    PubMed Central

    Hall, Caroline B.; Canfield, Richard L.; Davidson, Philip; Lofthus, Gerry; Schnabel, Kenneth; Carnahan, Jennifer; Shelley, Lynne; Wang, Hongyue

    2014-01-01

    OBJECTIVE: The goal of this study was to determine if congenital human herpesvirus-6 (HHV-6) infection influences early neurodevelopment. METHODS: We enrolled 57 newborns with HHV-6 congenital infection and 242 control newborns without congenital infection into a prospective, double-blind study with 4 visits between 4 and 30 months of age. Assessments included the Fagan Test of Infant Intelligence, the Visual Expectation Paradigm, and the Mental Development Index (MDI) of the Bayley Scales of Infant Development II. Newborn audiology screening and follow-up audiology examinations were completed at 12 to 24 months. RESULTS: No differences were noted in baseline characteristics between infants with HHV-6 congenital infection and control infants. No clinical syndrome due to congenital infection with HHV-6 was evident at birth. No differences were identified on the Fagan Test of Infant Intelligence or the Visual Expectation Paradigm between the two groups. In 39 infants with HHV-6 congenital infection, the mean ± SD Bayley Scale of Infant Development II MDI score was 103.4 ± 8.9 at 12 months of age. The matched control infants had a mean score of 105.4 ± 12.4. After controlling for covariates, HHV-6 congenital infection was associated with lower scores on the Bayley Scale of Infant Development II MDI at 12 months of age (mean difference: 4.3 [95% confidence interval: 0.4 to 8.1]; P = .03) compared with infants without HHV-6 congenital infection. CONCLUSIONS: Congenital HHV-6 infection may have a detrimental effect on neurodevelopment at 12 months of age and requires further study given that congenital infection with HHV-6 is present in ∼1 in every 101 births. PMID:25367540

  8. Higher order stationary subspace analysis

    NASA Astrophysics Data System (ADS)

    Panknin, Danny; von Bünau, Paul; Kawanabe, Motoaki; Meinecke, Frank C.; Müller, Klaus-Robert

    2016-03-01

    Non-stationarity in data is an ubiquitous problem in signal processing. The recent stationary subspace analysis procedure (SSA) has enabled to decompose such data into a stationary subspace and a non-stationary part respectively. Algorithmically only weak non- stationarities could be tackled by SSA. The present paper takes the conceptual step generalizing from the use of first and second moments as in SSA to higher order moments, thus defining the proposed higher order stationary subspace analysis procedure (HOSSA). The paper derives the novel procedure and shows simulations. An obvious trade-off between the necessity of estimating higher moments and the accuracy and robustness with which they can be estimated is observed. In an ideal setting of plenty of data where higher moment information is dominating our novel approach can win against standard SSA. However, with limited data, even though higher moments actually dominate the underlying data, still SSA may arrive on par.

  9. 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).

  10. 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

  11. 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

  12. 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 ...

  13. Congenital alopecia universalis.

    PubMed

    Saraswat, P K; Laha, N N

    1989-09-01

    A case of congenital alopecia universalis without any other ectodermal defect and mental abnormality is described in a girl of eight years. There was no family history in any of the members. The child was born of a non-consanguineous marriage. PMID:2632563

  14. OPERATION FOR CONGENITAL CATARACT

    PubMed Central

    Barkan, Otto

    1949-01-01

    The traditional treatment of needling or discission of congenital cataract or membrane is open to many serious objections. Removal of the cataract by a modified form of linear extraction is recommended. The technique, with recent improvements which further assure extraction without hazard in early infancy, is described. PMID:18125222

  15. 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

  16. Stationary surgical smoke evacuation systems.

    PubMed

    2001-03-01

    Two types of systems are available for evacuating the surgical smoke created by electrosurgery and laser surgery: portable and stationary surgical smoke evacuation systems. While portable systems dominate the market today, stationary systems are an alternative worth considering--even though they are still in their infancy, with fewer than 90 systems installed to date. Stationary systems represent a major commitment on the part of the healthcare facility. Several system components must be installed as part of the physical plant (for instance, within the walls), making the system a permanent fixture in the surgical suite. Installation of these systems is often carried out during building construction or major renovation--although the systems can be cost-effective even if no renovations are planned. For this Evaluation, we tested three stationary systems. All three are adequate to capture surgical smoke and evacuate it from the operating room. These systems are easy to use, are quietter than their portable counterparts, and require minimal user maintenance. They represent an excellent option for most hospitals actively evacuating surgical smoke. In this article, we discuss the factors to consider when selecting from among these systems. We also offer guidance on choosing between stationary systems and portable ones. PMID:11321758

  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. 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

  19. Congenital hemophagocytic reticulosis.

    PubMed

    Koto, A; Morecki, R; Santorineou, M

    1976-04-01

    A fatal case of an apparently congenital form of hemophagocytic reticulosis is reported. The onset was manifested by hyperbilirubinemia and hepatosplenomegaly which were present at birth and persisted throughout life. Fever, anemia and pancytopenia developed at 1 month of age and became progressively worse. A splenectomy was performed at the age of 3 months, but the child died one day later with disseminated intravascular coagulation and pulmonary hemorrhage. The literature is reviewed with regard to the relationship of this case to (familial) hemophagocytic reticulosis and malignant histiocytosis (histiocytic medullary reticulosis). It is suggested that congenital hemophagocytic reticulosis, as described here, (familial) hemophagocytic reticulosis in infants, and malignant histiocytosis in adults all represent the same basic disorder with different ages of onset and clinicopathologic manifestations. PMID:1266810

  20. Congenital midline cervical cleft.

    PubMed

    Agag, Richard; Sacks, Justin; Silver, Lester

    2007-01-01

    Congenital midline cervical cleft (CMCC) is a rare disorder of the ventral neck that is clinically evident at birth and must be differentiated from the more common thyroglossal duct cyst. The case of CMCC presented here was associated with chromosomes 13/14 de novo Robertsonian translocations as well as midline deformities including a sacral tuft and a minor tongue-tie. The case is presented as well as discussion of histopathology, embryology, and surgical treatment. PMID:17214531

  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. Other congenital abnormalities.

    PubMed

    Cobbett, J R

    1974-06-29

    The plastic surgeon is not a miracle worker, as so many of his patients believe. Nevertheless, he can do much to minimize the functional and cosmetic effect of many congenital deformities. If a moral can be drawn from this article it must be that the plastic surgeon should be given an early opportunity to see and assess the patients described here, if only to ease the anxiety in the minds of their parents by appropriate reassurance and discussion. PMID:4853507

  3. 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

  4. 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.

  5. Radiology of congenital heart disease

    SciTech Connect

    Amplatz, K.

    1986-01-01

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

  6. 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 ...

  7. 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) ...

  8. 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 ...

  9. 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.

  10. 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

  11. 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. PMID:27064094

  12. Congenital nephrotic syndrome.

    PubMed

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us. PMID:22299306

  13. Congenital limb deficiency disorders.

    PubMed

    Wilcox, William R; Coulter, Colleen P; Schmitz, Michael L

    2015-06-01

    Congenital limb deficiency disorders (LDDs) are birth defects characterized by the aplasia or hypoplasia of bones of the limbs. Limb deficiencies are classified as transverse, those due to intrauterine disruptions of previously normal limbs, or longitudinal, those that are isolated or associated with certain syndromes as well as chromosomal anomalies. Consultation with a medical geneticist is advisable. Long-term care should occur in a specialized limb deficiency center with expertise in orthopedics, prosthetics, and occupational and physical therapy and provide emotional support and contact with other families. With appropriate care, most children with LDDs can lead productive lives. PMID:26042905

  14. [Congenital myasthenic syndrome].

    PubMed

    Araga, Shigeru

    2008-06-01

    Congenital myasthenic syndromes (CMS) are rare heterogeneous disorders in which neuromuscular transmission is compromised by one or more specific mechanisms. CMS are clinically diagnosed by a history of fatigability and muscle weakness since infancy or early childhood, a decremental EMG response and the absence of acetylcholine receptor antibodies. CMS form a heterogeneous group of disorders which are classified as originating from presynaptic, synaptic or postsynaptic defects. Molecular genetic studies reveal a various type of mutations in synapse-associated genes. However, the genetic abnormalities of many CMS are still unresolved. This article outlines the classification of CMS and etiology of individual forms. PMID:18540366

  15. Precalcaneal Congenital Fibrolipomatous Hamartoma

    PubMed Central

    Yang, Ji-Hye; Park, Oun-Jae; Kim, Jeong-Eun; Won, Chong-Hyun; Chang, Sung-Eun; Choi, Jee-Ho; Moon, Kee-Chan

    2011-01-01

    Precalcaneal congenital fibrolipomatous hamartomas (PCFHs) are characterized clinically by the presence of unilateral or bilateral, asymptomatic nodules in the medial precalcaneal plantar region of the heel. They are skin colored and usually painless nodules. In most patients, the lesions appear within the first few months of life, but they may also be present at birth. Generally PCFHs are benign, but they can grow in proportion to the growth of the infants. Here, we report the case of a 4-month-old boy with a solitary, localized skin-colored nodule on the precalcaneal plantar region of his right heel, diagnosed as a PCFH. PMID:21738373

  16. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  17. CONGENITAL DIAPHRAGMATIC HERNIA

    PubMed Central

    Adams, Burton E.

    1954-01-01

    Treatment of congenital diaphragmatic hernia in infants is a matter of semi-emergency and should be done as soon as adequate preparations can be made because sometimes fatal complications develop swiftly. In preoperative preparation there is great advantage in thorough decompression of the abdominal viscera, stomach, bowel and bladder. As to operation, the author believes the abdominal approach has most to recommend it. In the postoperative period, continued gastric suction for a brief time, parenteral administration of fluids and use of a Mistogen tent with a high moist oxygen content will facilitate rapid recovery. ImagesFigure 1. PMID:13209363

  18. 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

  19. 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

  20. Congenital Median Upper Lip Fistula

    PubMed Central

    al Aithan, Bandar

    2012-01-01

    Congenital median upper lip fistula (MULF) is an extremely rare condition resulting from abnormal fusion of embryologic structures. We present a new case of congenital medial upper lip fistula located in the midline of the philtrum of a 6 year old girl. PMID:22953305

  1. 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.

  2. [Congenital defects and incapacity].

    PubMed

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  3. [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. PMID:26776286

  4. Congenital fiber type disproportion.

    PubMed

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. PMID:26526626

  5. Cataracts in Congenital Toxoplasmosis

    PubMed Central

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

    2008-01-01

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

  6. [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

  7. [Congenital multiple arthrogryposis].

    PubMed

    Parsch, Klaus; Pietrzak, Szymon

    2007-03-01

    From 1975 to 2004 a total of 38 children handicapped by congenital multiple arthrogryposis were cared for. The congenital joint contractures demand a major effort in terms of surgical reconstruction. In the case of distal arthrogryposis the chances that patients will be able to walk without help are good, while those with amyoplasia are likely to be dependent on mobility aids throughout their lives. The ultimate goal of treatment for patients is to develop into self-confident adults who can cope with life despite their handicaps. The hip in arthrogryposis shows variable forms of pathology, ranging from the almost normal hip to hip contractures with dislocation. Its treatment has some limited advantages, but hardly improves mobility. The knee contractures are actively treated to allow patients to sit, stand and walk better. The club foot and the rocker-bottom foot need sophisticated conservative and operative treatments. If conservative manipulation of bilateral extension contractures of the elbow fails operative treatment is carried out on the dominant side. For shoulder, hand and finger contractures conservative manipulation brings about little improvement, and surgical approaches help hardly at all. PMID:17323063

  8. Congenital bilateral eversion of the eyelids.

    PubMed

    Isawumi, Michaeline A; Adeoti, Caroline O; Umar, Ismaila O; Oluwatimilehin, Ilesanmi O; Raji, Ralph A

    2008-01-01

    The authors report a case of congenital bilateral eversion of the eyelids with secondary conjunctival prolapse in a 4-hour-old neonate. Conservative treatment with hypertonic normal saline, lubricants, antibiotics, and padding was instituted. No surgery was performed. Complete eye opening was achieved by the 10th day after birth. Medical management is advantageous in that it is inexpensive, noninvasive, and can be performed even in a center with poor surgical facilities, as is commonly encountered in developing countries. The sociopsychological aspect of the disease, possible pathophysiology, and treatment are discussed. PMID:19043951

  9. 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

  10. 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…

  11. 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.

  12. 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

  13. Multicystic congenital mesoblastic nephroma.

    PubMed

    Drut, Ricardo

    2002-01-01

    This report describes an unusual example of congenital mesoblastic nephroma cellular variant that presented in a 1-week-old neonate as a multicystic tumor of the kidney. Extensive pseudocystic cavitation resulted from progressive accumulation of ground substance in a loosely myxoid tissue composed of stellate- and spindle-shaped cells that compressed and infiltrated renal tissue. The cells of the tumor were positive for vimentin and smooth muscle actin. The patient is alive and well 16 years after surgery. Differential diagnosis from segmental cystic dysplasia, cystic intralobar nephrogenic rest, cystic nephroma, cystic partially differentiated nephroblastoma, cystic nephroblastoma, and cystic clear cell sarcoma of the kidney, all of which may present at this age, is discussed. PMID:11927972

  14. Congenital vertical talus: a review.

    PubMed

    McKie, Janay; Radomisli, Timothy

    2010-01-01

    Congenital vertical talus, also known as congenital convex pes valgus, is an uncommon disorder of the foot, manifested as a rigid rocker-bottom flatfoot. Radiographically, it is defined by dorsal dislocation of the navicular on the talus. This condition requires surgical correction. If left untreated, this foot deformity results in a painful and rigid flatfoot with weak push-off power. This article provides an overview of this rare foot deformity, outlines appropriate workup of the disorder, and details current treatment options, with emphasis on the evolution of treatment of congenital vertical talus. PMID:19963176

  15. [Labial recurrent swelling revealing median congenital upper-lip fistula].

    PubMed

    Rohart, J; Nicot, R; Myon, L; Elbaz, J; Raoul, G; Ferri, J

    2015-11-01

    Midline upper-lip fistulas are an extremely rare variant of congenital facial malformations. Less than 30 cases have been reported in the literature since 1970. We report the case of a 2 and a half-year-old girl presenting with a median congenital blind fistula of the upper lip, without any relation with the oral cavity. A recurrent swelling of the upper lip was the main symptom. Complete surgical excision of the cyst or of the fistulous tract must be obtained to avoid recurrence. PMID:26138739

  16. 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. PMID:22045346

  17. Congenital parotid fistula.

    PubMed

    Natasha, Shiggaon

    2014-01-01

    Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen's duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT) fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient. PMID:25231049

  18. Congenital Diaphragmatic Hernia

    PubMed Central

    2012-01-01

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

  19. Congenital diaphragmatic hernia.

    PubMed

    Tovar, Juan A

    2012-01-01

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

  20. Congenital Triangular Alopecia.

    PubMed

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders such as Down's syndrome and phakomatosis pigmentovascularis. The diagnosis is based on its distinct clinical appearance. Histologically, hair follicles are miniaturized and replaced by sparse vellus hair follicles. Tricoscopy using a polarized light handheld dermatoscope can be a useful diagnostic tool. CTA is often asymptomatic and remains unchanged throughout the life. No treatment is required. Surgical intervention with follicular unit hair transplantation can provide a satisfactory cosmetic result. In this paper, we have identified 126 cases of CTA in the published literature cited on PubMed between 1905 and 2015. From the available evidence, 79% of patients with CTA presented with unilateral hair loss, 18.5% with bilateral involvement and rarely, with occipital alopecia (2.5%). There was no gender predilection. These figures are entirely consistent with previously published data. Physicians should remember to consider CTA as a potential diagnosis in any patient presenting with a nonscarring alopecia in order to avoid unnecessary investigations and treatments. PMID:26180448

  1. Congenital Rhabdomyosarcoma of Shoulder

    PubMed Central

    Khaleghnejad-Tabari, Ahmad; Mirshemirani, Alireza; Rouzrokh, Mohsen; Nariman, Shahin; Hassas-Yeganeh, Shaghayegh; Gharib, Atoosa; Khaleghnejad-Tabari, Nasibeh

    2012-01-01

    A 16-day-old female was referred with congenital swelling on her right shoulder. On examination, there was a hard, round, ecchymotic, nontender, slightly movable, warm and shiny 10x15 cm mass on the right axillary pits which was extended to the right side of neck and chest wall. The mass separated the shoulder from the chest wall causing paralysis of right hand. Chest X-ray, ultrasound and MRI with contrast demonstrated a soft tissue mass suspected to be a hemangioma. The mass rapidly increased in size despite aggressive steroid therapy with rupture and bleeding. On the 45th post natal day the baby was taken to operating room to control the bleeding and if possible total excision of the mass. The mass was separated easily from the surrounding tissue and was excised along with right upper extremity. At the end of surgery the baby had cardiac arrest, and apparently died of Disseminated Intravascular Coagulation (DIC). The final pathology report was Rhabdomyosarcoma (RMS). PMID:25628836

  2. [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

  3. [Congenital Esophageal Atresia].

    PubMed

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  4. Singing in congenital amusia.

    PubMed

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

    2009-07-01

    Congenital amusia is a musical disorder characterized by impaired pitch perception. To examine to what extent this perceptual pitch deficit may compromise singing, 11 amusic individuals and 11 matched controls were asked to sing a familiar tune with lyrics and on the syllable /la/. Acoustical analysis of sung renditions yielded measures of pitch accuracy (e.g., number of pitch errors) and time accuracy (e.g., number of time errors). The results revealed that 9 out of 11 amusics were poor singers, mostly on the pitch dimension. Poor singers made an anomalously high number of pitch interval and contour errors, produced pitch intervals largely deviating from the score, and lacked pitch stability; however, more than half of the amusics sang in-time. Amusics' variability in singing proficiency was related to their residual pitch perceptual ability. Thus, their singing deficiency might be a consequence of their perceptual deficit. Nevertheless, there were notable exceptions. Two amusic individuals, despite their impoverished perception, sang proficiently. The latter findings are consistent with the existence of separate neural pathways for auditory perception and action. PMID:19603898

  5. [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

  6. 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

  7. 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. PMID:21437824

  8. 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 ...

  9. 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: ...

  10. 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 ...

  11. Common Tests for Congenital Heart Defects

    MedlinePlus

    ... Heart Defect - Fetal Circulation • Care & Treatment • 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: ...

  12. Understand Your Risk for Congenital Heart Defects

    MedlinePlus

    ... health problems than their parents. Learn more about genetic counseling . Single gene: Rarely, congenital heart defects are caused ... of Congenital Heart Defects • Understand Your Risk Introduction Genetic Counseling • Symptoms & Diagnosis • Care & Treatment • Tools & Resources Related Sites ...

  13. 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.

  14. 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.

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

    PubMed

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

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  16. [The congenital afibrinogenemia: case report].

    PubMed

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

    2010-01-01

    The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582

  17. Evaluation of Adults With Congenital Heart Disease.

    PubMed

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD. PMID:26957402

  18. Paternal transmission of congenital myotonic dystrophy.

    PubMed Central

    Bergoffen, J; Kant, J; Sladky, J; McDonald-McGinn, D; Zackai, E H; Fischbeck, K H

    1994-01-01

    The congenital form of myotonic dystrophy is reported to be almost exclusively, if not exclusively, maternally transmitted. We present a case of congenital myotonic dystrophy which was inherited from a mildly affected father. This family illustrates that the congenital form of myotonic dystrophy can occur without intrauterine or other maternal factors related to the disease. The possibility of paternal transmission of the congenital form of myotonic dystrophy could be considered when counselling myotonic dystrophy patients and their families. Images PMID:7966187

  19. 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…

  20. Space plasma physics: I - Stationary processes

    NASA Technical Reports Server (NTRS)

    Hasegawa, Akira; Sato, Tetsuya

    1989-01-01

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

  1. Stationary rotating strings as relativistic particle mechanics

    SciTech Connect

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

    2008-07-15

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

  2. Congenital granular-cell myoblastoma.

    PubMed

    Cussen, L J; MacMahon, R A

    1975-04-01

    The clinical and pathologic features of congenital granular-cell myoblastoma in five infant girls are reported. One lesion, treated expectantly, progressively decreased in size and after 3 yr and 9 mo could not be detected, while two lesions which were imcompletely excised did not recur. It is suggested that congenital granular-cell myoblastoma is caused by an intrauterine stimulus, and that this stimulus may possible be production of estrogen by the fetus. Congential granular-cell myoblastoma should be treated expectantly or by limited excision, and has an excellent prognosis. PMID:164527

  3. 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

  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. 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

  6. 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.

  7. 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.

  8. 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

  9. Congenital long QT syndrome

    PubMed Central

    Crotti, Lia; Celano, Giuseppe; Dagradi, Federica; Schwartz, Peter J

    2008-01-01

    Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is estimated at close to 1 in 2,500 live births. The two cardinal manifestations of LQTS are syncopal episodes, that may lead to cardiac arrest and sudden cardiac death, and electrocardiographic abnormalities, including prolongation of the QT interval and T wave abnormalities. The genetic basis of the disease was identified in the mid-nineties and all the LQTS genes identified so far encode cardiac ion channel subunits or proteins involved in modulating ionic currents. Mutations in these genes (KCNQ1, KCNH2, KCNE1, KCNE2, CACNA1c, CAV3, SCN5A, SCN4B) cause the disease by prolonging the duration of the action potential. The most prevalent LQTS variant (LQT1) is caused by mutations in the KCNQ1 gene, with approximately half of the genotyped patients carrying KCNQ1 mutations. Given the characteristic features of LQTS, the typical cases present no diagnostic difficulties for physicians aware of the disease. However, borderline cases are more complex and require the evaluation of various electrocardiographic, clinical, and familial findings, as proposed in specific diagnostic criteria. Additionally, molecular screening is now part of the diagnostic process. Treatment should always begin with β-blockers, unless there are valid contraindications. If the patient has one more syncope despite a full dose β-blockade, left cardiac sympathetic denervation (LCSD) should be performed without hesitation and implantable cardioverter defibrillator (ICD) therapy should be considered with the final decision being based on the individual patient characteristics (age, sex, clinical history, genetic subgroup including mutation-specific features in some cases, presence of ECG signs – including 24-hour Holter recordings – indicating high electrical instability). The prognosis of the

  10. 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.

  11. 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

  12. Instability of stationary liquid sheets.

    PubMed

    Ardekani, A M; Joseph, D D

    2009-03-31

    The rupture of a 3D stationary free liquid film under the competing effects of surface tension and van der Waals forces is studied as a linearized stability problem in a purely irrotational analysis utilizing the dissipation method. The results of the foregoing analysis are compared with a 2D long-wave approximation that has given rise to an extensive literature on the rupture problem. The irrotational and long-wave approximations are here compared with the exact 2D solution. The exact solution and the two approximate theories give the same results for infinitely long waves. The problem considered depends on two dimensionless parameters, the Hamaker number and the Ohnesorge number. The Hamaker number is a dimensionless number defined as a measure of the ratio of van der Waals forces to surface tension. The exact solution and the two approximate solutions differ by < 1% when the Hamaker number is small for all values of the Ohnesorge number. When the Ohhnesorge number is close to one, as in the case of water films separated by distance 100 A, the long-wave approximation overestimates and the potential flow approximation underestimates the exact solution by similar small amounts. The high accuracy of the dissipation method shows that the effects of vorticity are small for small to moderate Hamaker numbers. PMID:19279213

  13. Laryngeal obstruction in congenital plasminogen deficiency.

    PubMed

    Cohen, Jonathan; Cohen, Shlomo; Cymberknoh, Malena Cohen; Gross, Menachem; Hirshoren, Nir; Shoseyov, David

    2012-09-01

    Type 1 congenital plasminogen deficiency (CPD) is a rare autosomal recessive disease which causes formation of fibrin pseudomembranes that affect multiple systems/organs: the eyes, respiratory system, urinary and genital systems, gastrointestinal system, and the central nervous system. We present a rare manifestation of the disease-severe upper airway obstruction due to a rapidly growing mass in the supraglottic region-6 months after dental treatment under general anesthesia. The management of such a manifestation has not been discussed in the current literature. Due to deterioration in his clinical status, the patient eventually underwent both a tracheotomy in order to bypass the obstruction, and excision of the supraglottic mass. Within a few days the mass recurred with complete obstruction of the upper airway. PMID:22328462

  14. Health in adults with congenital heart disease.

    PubMed

    Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  15. Experimental model of congenital syphilis.

    PubMed Central

    Kajdacsy-Balla, A; Howeedy, A; Bagasra, O

    1993-01-01

    Female LSH hamsters infected with Treponema pallidum subsp, endemicum before pregnancy or during early pregnancy transmit a form of syphilis to the fetus that is similar to human congenital syphilis. The offspring develops rhinitis, skin rash, failure to thrive, and hepatosplenomegaly. T. pallidum is detectable in their livers, spleens, and nasal secretions. Immunoglobulin M antibodies are detected in the serum. Images PMID:8335390

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

    PubMed

    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

  18. 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

  19. Parietal bone agenesis and associated multiple congenital anomalies.

    PubMed

    de Heer, Inge M; van Nesselrooij, Bernadette P M; Spliet, Willem; Vermeij-Keers, Christl

    2003-03-01

    Congenital defects of the calvaria in general and the parietal bones in particular are rare diseases. The latter are of three kinds: 1) cranioschisis, 2) craniodysostosis, and 3) foramina parietalia permagna (FPP). Here, we describe an exceptional anomaly, namely, complete absence of one parietal bone and dysplasia of the other. Agenesis has been reported twice before in the literature. In these cases, the calvarial defect was the only congenital anomaly. In contrast, the patient described in this article exhibited many other congenital deformities, namely, iris coloboma, facial dysmorphism, a large ventricular septal defect of the heart, and a horseshoe kidney. Some of these deformities are associated with neural crest development. Chromosomal analysis was normal in both blood and fibroblasts, and fluorescent in situ hybridization analysis failed to demonstrate a 22q11 deletion as seen in DiGeorge syndrome, a neural crest-related disease complex. Since 2000, the third group of congenital defects of the parietal bones, FPP, has been associated with mutations of the MSX-2 gene. In our case, a genetic analysis of this gene was performed, but no mutations or deletions of MSX-2 were detected. PMID:12621289

  20. Complete diphallia.

    PubMed

    Acimi, Smail

    2008-01-01

    A case of complete diphallia in a 4-month-old boy is reported. This is the second case to be published from this institution. The embryogenesis and associated anomalies of diphallia are discussed, together with a proposal for a classification based on anatomical, functional and therapeutic aspects of the malformation. PMID:19230173

  1. Evolutive leukoencephalopathy in congenital cytomegalovirus infection.

    PubMed

    Krakar, Goran; Đaković, Ivana; Delin, Sanja; Bošnjak, Vlatka Mejaški

    2015-01-01

    Congenital cytomegalovirus infection is the most common infectious cause of congenital brain injury. Type and severity of congenital cytomegalovirus infection-related brain abnormalities depend on the developmental stage of the central nervous system at the time of fetal infection. The aim of this study was to follow the course of leukoencephalopathy in a patient with congenital cytomegalovirus infection. We describe brain magnetic resonance imaging (MRI) findings of a boy with symptomatic congenital cytomegalovirus infection performed at the age of 3 weeks, 13 months, and 4 and 7 years. Neonatal brain MRI showed most of characteristic findings in congenital cytomegalovirus infection with most prominent white matter abnormalities and cortical dysplasia. MRI follow-up images showed that cortical dysgenesis remained unchanged and static, whereas white matter abnormalities evolved over the years. We propose that leukoencephalopathy in congenital cytomegalovirus infection is not only nonprogressive or static but even evolutive and suggests both underlying disruption and delay of myelination. PMID:24453153

  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. 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

  4. 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.

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

    PubMed

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

    2015-11-21

    Parallel-hole SPECT collimators have traditionally been manufactured by stacking sheets of lead foil or by casting. These techniques significantly restrict our options in terms of collimator geometry. However, recent developments in metal additive manufacturing are making novel collimator designs possible, giving rise to new opportunities in SPECT imaging. In this paper we propose an innovative type of collimator for stationary SPECT, using parallel-holes whose collimation direction depends on their axial position. Its main advantage compared to current stationary SPECT systems (which are based on pinholes) is that, using only axial bed translations, we can achieve complete angular sampling of an increased portion of the transaxial area of the collimator bore. This allows the system to be much more compact than current stationary SPECT systems that image objects of the same size. We describe three possible designs, for full-body, brain and small-animal imaging, respectively, and test their feasibility using simulations. The system modeling method is validated against realistic Monte Carlo simulations, and then used in the evaluation of the systems' performances and reconstructions. The simulations show that the system is able to reconstruct objects occupying the predicted field of view ([Formula: see text] of the transaxial area of the bore) without sampling artifacts. In particular, we perform reconstructions from noisy projection data obtained for an activity and scanning time similar to standard protocols for the three applications, and the resulting images indicate the possibility of using the proposed systems in practice. PMID:26528908

  6. INSTRUMENTAL SENSING OF STATIONARY SOURCE EMISSIONS

    EPA Science Inventory

    Remote sensing methods offer a number of advantages over contact measurement methods in the area of enforcement and surveillance of emissions from stationary sources. Several techniques have been developed that can measure the gas concentration, effluent velocity, and particulate...

  7. Dampers for Stationary Labyrinth Seals

    NASA Technical Reports Server (NTRS)

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

    2011-01-01

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

  8. 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.

  9. 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."

  10. 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." PMID:26636854

  11. A Comparative Study of Stationary and Non-stationary Wind Models Using Field Measurements

    NASA Astrophysics Data System (ADS)

    Chen, Jun; Hui, Michael C. H.; Xu, Y. L.

    2007-01-01

    We present a comparative study of the conventional stationary wind speed model and a newly proposed non-stationary wind speed model using field measurements. The concept of, and the differences between, the two wind models are briefly reviewed. Wind data recorded by a field measurement system for wind turbulence parameters (FMS-WTP) of 1-year duration are analyzed using the two wind models. Comparisons were made between the wind characteristics obtained from the two models, including hourly mean wind speed, turbulence intensity, the wind spectrum, integral length scale, root coherence function and probability density function. The effects of wind types (monsoon or typhoon), statistical properties (stationary or non-stationary), and surface roughness (open-sea fetch or overland fetch) on wind characteristics are discussed. The comparative study demonstrates that the non-stationary wind model appears to be more appropriate than the conventional stationary wind speed model for characterizing turbulent winds of one-hour duration over complex terrain.

  12. 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

  13. Stationary Liquid Fuel Fast Reactor

    SciTech Connect

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

    2015-09-30

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

  14. 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.

  15. [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. PMID:26115799

  16. 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.

  17. [Congenital myasthenic syndromes; French experience].

    PubMed

    Eymard, Bruno; Hantaï, Daniel; Fournier, Emmanuel; Nicole, Sophie; Sternberg, Damien; Richard, Pascale; Fardeau, Michel

    2014-02-01

    Congenital myasthenic syndromes CMS) form a heterogeneous group of genetic diseases characterized by abnormal neuromuscular transmission. The associated muscular weakness is exacerbated by exertion and usually starts during infancy/childhood In 2002 a national Congenital Myasthenic Syndromes Network was created in France, composed of neurologists, neuropediatricians, pathologists, molecular geneticists and neurobiologists. The network has now identified nearly 300 cases of CMS, as well as three new culprit genes. Based on our personal experience and data from the most recent studies, we describe the 18 principal culprit genes so far identified, along with diagnostic pitfalls, the disease course, prognosis and treatment. The underlying genetic defect remains to be identified in nearly half of CMS patients. PMID:26263703

  18. Surgical correction of congenital megaprepuce.

    PubMed

    Shenoy, M U; Rance, C H

    1999-01-01

    Congenital megaprepuce (CMP) is a rare entity. Two infant boys presented with a tight congenital phimosis resulting in an excessively baggy, urine-filled prepuce and a swollen scrotum. Compression of the scrotum resulted in drainage of urine. We feel this to be a separate entity from a buried penis and recommend early surgery. The phimotic tip of the foreskin was excised and the inner layer preserved to cover the full length of the penile shaft. The outer layer of the foreskin, in reality the penoscrotal junction, was anchored to the base of the penile shaft. A V-shaped edge of ventral skin was excised and the edges approximated, giving the appearance of median raphe. The final appearance was that of a circumcised penis. A third patient awaits operation. PMID:10631746

  19. Are parenchymal AVMs congenital lesions?

    PubMed

    Morales-Valero, Saul F; Bortolotti, Carlo; Sturiale, Carmelo; Sturiale, Carmelo L; Lanzino, Giuseppe

    2014-09-01

    A long-held dogma in neurosurgery is that parenchymal arteriovenous malformations (AVMs) are congenital. However, there is no strong evidence supporting this theory. An increasing number of documented cases of de novo formation of parenchymal AVMs cast doubt on their congenital nature and suggest that indeed the majority of these lesions may form after birth. Further evidence suggesting the postnatal development of parenchymal AVMs comes from the exceedingly rare diagnosis of these lesions in utero despite the widespread availability of high-resolution imaging modalities such as ultrasound and fetal MRI. The exact mechanism of AVM formation has yet to be elucidated, but most likely involves genetic susceptibility and environmental triggering factors. In this review, the authors report 2 cases of de novo AVM formation and analyze the evidence suggesting that they represent an acquired condition. PMID:25175439

  20. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  1. Congenital scoliosis – Quo vadis?

    PubMed Central

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

    2010-01-01

    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. Complete colonic duplication in children

    PubMed Central

    Khaleghnejad Tabari, Ahmad; Mirshemirani, Alireza; Khaleghnejad Tabari, Nasibeh

    2012-01-01

    Background: Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in 15% of gastrointestinal duplication. We report two cases of complete colonic duplications, and their characteristics. Case Presentation: We present two patients with complete colonic duplication with different types and presentations. Case 1: A 2- year old boy presented to the clinic with abdominal protrusion, difficulty to defecate, chronic constipation and mucosal prolaps covered bulging (rectocele) since he was 6 months old. The patient had palpable pelvic mass with doughy consistency. Rectal exam confirmed perirectal mass with soft consistency. The patient underwent a surgical operation that had total tubular colorectal duplication with one blind end and was treated with simple fenestration of distal end, and was discharged without complication. After two years follow up, he had normal defecation and good weight gain. Case 2: A 2 –day old infant was referred with imperforate anus and complete duplication of recto-sigmoid colon, diphallus, double bladder, and hypospadiasis. After clinical and paraclinical investigations, he underwent operations in several stages in different periods, and was discharged without complications. After four years follow up, he led a normal life. Conclusion: The patients with complete duplication have to be examined carefully because of the high incidence of other systemic anomalies. Treatment includes simple resection of distal common wall, fenestration, and repair other associated anomalies. PMID:24358440

  3. 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

  4. 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.

  5. Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review.

    PubMed

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

    We present a unique case of a congenital hereditary common peroneal nerve neuropathy with congenital idiopathic congenital talipes equinovarus that had been treated with the Ponseti method with satisfactory outcome at 5-year follow-up, along with a literature review. PMID:26588839

  6. 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 ...

  7. 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

  8. 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

  9. 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.

  10. Complete Makeover

    NASA Technical Reports Server (NTRS)

    2004-01-01

    [figure removed for brevity, see original site]

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

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

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

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

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

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

  11. Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases

    PubMed Central

    Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

    2012-01-01

    Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings. PMID:23373038

  12. Self-Organized Stationary States of Tokamaks

    SciTech Connect

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

    2015-11-17

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

  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. 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…

  16. 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…

  17. 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…

  18. Stationary Engineers Apprenticeship. Related Training Modules. 3.1-3.4 Drawing.

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

    This packet of four learning modules on drawing 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…

  19. 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,…

  20. 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…

  1. 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…

  2. 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

  3. Arrhythmias in Complex Congenital Heart Disease

    PubMed Central

    Hayward, Robert M.; Tseng, Zian H.

    2014-01-01

    Late after surgical repair of complex congenital heart disease, atrial arrhythmias are a major cause of morbidity, and ventricular arrhythmias and sudden cardiac death are a major cause of mortality. The six cases in this article highlight common challenges in the management of arrhythmias in the adult congenital heart disease population. PMID:25197326

  4. Congenital duodenal obstruction: causes and imaging approach.

    PubMed

    Brinkley, Michael F; Tracy, Elisabeth T; Maxfield, Charles M

    2016-07-01

    Bilious emesis is a common cause for evaluation in pediatric radiology departments. There are several causes of congenital duodenal obstruction, most of which require elective surgical correction, but the potential of malrotation with midgut volvulus demands prompt imaging evaluation. We review the various causes of congenital duodenal obstruction with an emphasis on the approach to imaging evaluation and diagnosis. PMID:27324508

  5. 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

  6. 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

  7. 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

  8. 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.

  9. 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.

  10. Optimal triple configurations of stationary shocks

    NASA Astrophysics Data System (ADS)

    Tao, G.; Uskov, V. N.; Chernyshov, M. V.

    Shock-wave systems consisted of three stationary shocks with common (triple) point T (Fig. 1,a-e) are called triple configurations. The slipstream (τ) emanates from the triple point and divides the streams that have gone through the sequence of shocks 1-2 and through the alone (main) shock 3 at another side of the triple point.