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Sample records for complete congenital stationary

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

    PubMed

    Tan, Xue; Aoki, Aya; Yanagi, Yasuo

    2013-01-01

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

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

    PubMed

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

    2014-01-01

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

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

    PubMed

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

    2013-01-10

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

  4. 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

  5. Congenital complete heart block.

    PubMed Central

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

    1996-01-01

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

  6. 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 ...

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

    PubMed

    Weleber, R G; Tongue, A C

    1987-03-01

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

  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.

  9. 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

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

    PubMed

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

    2005-01-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed

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

    2013-04-01

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

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

    PubMed Central

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

    2016-01-01

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

  14. Congenital Complete Absence of Pericardium Masquerading as Pulmonary Embolism

    PubMed Central

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

    2013-01-01

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

  15. 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

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

    PubMed

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

    2015-03-01

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

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

    PubMed

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

    2014-03-26

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

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

    PubMed Central

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

    2014-01-01

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

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

    PubMed

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

    2016-05-05

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2015-01-01

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

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

    PubMed

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

    2014-04-01

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

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

    PubMed

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

    2000-06-15

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

  4. 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.

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

    PubMed

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

    2013-01-01

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

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

    PubMed Central

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

    2013-01-01

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

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

    PubMed

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

    2014-06-01

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

  8. 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.

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2012-09-01

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

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

    PubMed

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

    1976-09-01

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

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

    PubMed

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

    2010-06-01

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

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

    PubMed

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

    2015-12-01

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

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

    PubMed Central

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

    2017-01-01

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

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

    PubMed

    Labovsky, Kristen; Hoffman, George; Scott, John

    2016-07-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

    Mahalakshmi, V N; Barathi, S Deepak

    2013-06-01

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

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

    PubMed

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

    2015-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    1993-10-01

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

  2. 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 ...

  3. Leber congenital amaurosis.

    PubMed

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

    1999-10-01

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

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

    PubMed

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

    2010-12-01

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

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

    PubMed

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

    2013-04-01

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

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

    PubMed Central

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

    2005-01-01

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

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

    PubMed

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

    2014-01-01

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

  8. Congenital Abnormalities

    MedlinePlus

    ... Listen Español Text Size Email Print Share Congenital Abnormalities Page Content Article Body About 3% to 4% ... of congenital abnormalities earlier. 5 Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic ...

  9. Leber's congenital amaurosis.

    PubMed

    De Laey, J J

    1991-01-01

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

  10. Congenital Hypothyroidism

    MedlinePlus

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

  11. Congenital hemangiomas.

    PubMed

    Boull, Christina; Maguiness, Sheilagh M

    2016-09-01

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

  12. Congenital nystagmus and negative electroretinography

    PubMed Central

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

    2011-01-01

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

  13. [Congenital 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.

  14. Congenital cataract

    MedlinePlus

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

  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 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; ...

  17. Congenital syphilis

    MedlinePlus

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

  18. [Congenital diarrhoea].

    PubMed

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

    2011-01-01

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

  19. [Congenital torticollis].

    PubMed

    Wicart, P

    2012-03-01

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

  20. [Congenital epulis].

    PubMed

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

    2009-01-01

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

  1. Tracheomalacia - congenital

    MedlinePlus

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

  2. 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…

  3. 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."

  4. Congenital scoliosis.

    PubMed

    Kose, Nusret; Campbell, Robert M

    2004-05-01

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

  5. [Congenital ranula].

    PubMed

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

    2010-01-01

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

  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.

  7. [Congenital aniridia].

    PubMed

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  8. Congenital omental cyst

    PubMed Central

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

    2012-01-01

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

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

    PubMed

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

    1989-06-15

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

  10. Congenital anomalies

    PubMed Central

    Kunisaki, Shaun M.

    2012-01-01

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

  11. 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

  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 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

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

    MedlinePlus

    ... vision. The NYX and CACNA1F proteins ensure that visual signals are passed from rods and cones to ... is an essential step in the transmission of visual information from the eyes to the brain. Mutations ...

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

    MedlinePlus

    ... PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for ... FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. Mutations in TRPM1 are a common ...

  16. Congenital anomalies associated with congenital hypothyroidism.

    PubMed

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

    1999-01-01

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

  17. Congenital Heart Disease in Adults

    MedlinePlus

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

  18. 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

  19. Congenital hemangiopericytoma: two cases of familiar presentation.

    PubMed

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

    1997-08-01

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

  20. [Genetics of congenital cardiopathies].

    PubMed

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

    2000-07-01

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

  1. 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.

  2. 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.

  3. 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.

  4. Multiple stationary solutions of an irradiated slab

    NASA Astrophysics Data System (ADS)

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

    2005-04-01

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

  5. 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.

  6. 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…

  7. 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)…

  8. [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.

  9. Congenital defects of sheep.

    PubMed

    Dennis, S M

    1993-03-01

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

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

    PubMed

    Eliazar, Iddo

    2012-10-01

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

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

    PubMed

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

    2014-03-01

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

  12. Multifocal Congenital Hemangiopericytoma.

    PubMed

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

    2017-01-01

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

  13. 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.

  14. 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.

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

    PubMed Central

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

    2009-01-01

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

  16. Giant congenital melanocytic nevus*

    PubMed Central

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

    2013-01-01

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

  17. Genetics of congenital hypothyroidism

    PubMed Central

    Park, S; Chatterjee, V

    2005-01-01

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

  18. Giant congenital melanocytic nevus.

    PubMed

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

    2013-01-01

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

  19. Active Control of Stationary Vortices

    NASA Astrophysics Data System (ADS)

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

    2016-11-01

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

  20. Giant congenital nevus

    MedlinePlus

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

  1. Congenital heart disease

    MedlinePlus

    ... defect - heartbeat Patent ductus arteriosis (PDA) - series References Fraser CD, Carberry KE. Congenital heart disease. In: Townsend ... ASD) Coarctation of the aorta Ellis-van Creveld syndrome Fetal alcohol syndrome Hypoplastic left heart syndrome Marfan ...

  2. 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 ...

  3. Congenital Heart Information Network

    MedlinePlus

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

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

    PubMed

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

    2003-06-01

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

  5. Nonequilibrium stationary states and entropy.

    PubMed

    Gallavotti, G; Cohen, E G D

    2004-03-01

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

  6. Complete thoracic ectopia cordis.

    PubMed

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

    2003-03-01

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

  7. Unexpected Complete Heart Block and Anesthetic Implications.

    PubMed

    Torres, Arturo G

    2015-08-01

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

  8. 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.

  9. 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.

  10. What Are Congenital Heart Defects?

    MedlinePlus

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

  11. Types of Congenital Heart Defects

    MedlinePlus

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

  12. Environmental aspects of congenital scoliosis.

    PubMed

    Li, Zheng; Yu, Xin; Shen, Jianxiong

    2015-04-01

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

  13. Genetics Home Reference: congenital hyperinsulinism

    MedlinePlus

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

  14. Leber's congenital amaurosis.

    PubMed

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

    1977-01-01

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

  15. Congenital Hemolytic Anemia.

    PubMed

    Haley, Kristina

    2017-03-01

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

  16. Congenital brain infections.

    PubMed

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

    2014-06-01

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

  17. 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

  18. Congenital Toxoplasmosis: A Review.

    PubMed

    Hampton, Marissa Martinez

    2015-01-01

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

  19. 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.

  20. Adult Congenital Heart Association

    MedlinePlus

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

  1. 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 ...

  2. Congenital Orbital Teratoma

    PubMed Central

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

    2017-01-01

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

  3. Congenital Orbital Teratoma.

    PubMed

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

    2017-01-01

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

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

    PubMed

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

    2015-01-01

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

  5. Congenital amaurosis of Leber.

    PubMed

    Gillespie, F D

    1966-05-01

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

  6. Congenital hearing loss.

    PubMed

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

    2017-01-12

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

  7. [Congenital insensitivity to pain].

    PubMed

    Popko, Janusz; Karpiński, Michał; Guszczyn, Tomasz

    2014-02-01

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

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

    PubMed

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

    2007-06-01

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

  9. [Congenital knee dislocation: case report].

    PubMed

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

    2016-01-01

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

  10. 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.

  11. 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.

  12. 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

  13. Molecular and Genetic Studies of Congenital Myopathies

    ClinicalTrials.gov

    2016-12-08

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

  14. 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…

  15. 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.

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

    PubMed

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

    2006-09-27

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

  17. Congenital syphilis: an unusual presentation.

    PubMed

    Dzebolo, N N

    1980-08-01

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

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

    NASA Astrophysics Data System (ADS)

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

    2016-10-01

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

  19. Irreversible reactions and diffusive escape: Stationary properties

    DOE PAGES

    Krapivsky, Paul L.; Ben-Naim, Eli

    2015-05-01

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

  20. 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.

  1. 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.

  2. Cataracts in Congenital Toxoplasmosis

    PubMed Central

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

    2008-01-01

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

  3. [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.

  4. [Genetics of congenital deafness].

    PubMed

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

    2012-10-20

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

  5. 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

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

    PubMed

    Brohi, Shams Raza; Dilber, Muzamil

    2012-08-01

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

  7. Congenital urethral stenosis in a male miniature piglet

    PubMed Central

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

    2014-01-01

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

  8. Congenital facial nerve aplasia: MR depiction of a rare anomaly

    PubMed Central

    Kumar, Ishan; Verma, Ashish; Ojha, Ritu; Aggarwal, Priyanka

    2016-01-01

    We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve. To our knowledge, this is the first reported MR depiction of nonsyndromic isolated facial nerve aplasia. Imaging features and the pertinent anatomy is discussed along with a brief review of literature. PMID:28104950

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

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  10. Ectopia cordis: a rare congenital anomaly.

    PubMed

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

    2014-11-01

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

  11. Diagnosis of congenital fibrinogen disorders.

    PubMed

    Lebreton, Aurélien; Casini, Alessandro

    2016-08-01

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

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

    PubMed Central

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

    2016-01-01

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

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

    PubMed

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

    2015-01-01

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

  14. 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

  15. Congenital adrenal hyperplasia.

    PubMed

    Merke, Deborah P; Bornstein, Stefan R

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

  16. Congenital heart defects and medical imaging.

    PubMed

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

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

  17. Relaxation dynamics near nonequilibrium stationary states in Brownian ratchets

    NASA Astrophysics Data System (ADS)

    Woo, Hyung-June

    2009-02-01

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

  18. Linear prediction of stationary vector sequences

    NASA Technical Reports Server (NTRS)

    Baram, Yoram

    1988-01-01

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

  19. 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.

  20. 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."

  1. 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."

  2. 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.

  3. 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

  4. 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.

  5. 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

  6. Congenital Hypothyroidism: Facts, Facets & Therapy.

    PubMed

    Kollati, Yedukondalu; Ambati, Ranga Rao; Reddy, Prakash Narayana; Kumar, N Satya Sampath; Patel, Rajesh K; Dirisala, Vijaya R

    2017-02-06

    Back ground: Thyroid hormone (T3) is essential for normal development of children enabling brain development and somatic growth. However, certain individuals are genetically predisposed with insufficient or no thyroid hormones. Such a condition is termed congenital hypothyroidism (CH).

  7. Photoaversion in Leber's congenital amaurosis.

    PubMed

    Traboulsi, E I; Maumenee, I H

    1995-03-01

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

  8. Why Search for Congenital Defects?

    PubMed Central

    Collins, John F.

    1966-01-01

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

  9. Congenital Syngnathia; Turmoils and Tragedy

    PubMed Central

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

    2017-01-01

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

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

    PubMed

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

    2013-10-01

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

  11. 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

  12. [Congenital Adrenal Hyperplasia in Adults].

    PubMed

    Vrbíková, Jana

    2016-01-01

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

  13. Congenital abnormalities and selective abortion.

    PubMed

    Seller, M J

    1976-09-01

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

  14. Immunotherapy of Congenital SIV Infection.

    DTIC Science & Technology

    1996-10-01

    TITLE: Immunotherapy of Congenital SIV Infection PRINCIPAL INVESTIGATOR: Ruth M. Ruprecht, M.D., Ph.D. CONTRACTING ORGANIZATION: Dana-Farber Cancer...SUBTITLE Immunotherapy of Congenital SIV 5. FUNDING NUMBERS Infection DAMD17-94-J-4431 6. AUTHOR(S) Ruth M. Ruprecht. M.D-. Ph.D 7. PERFORMING...period of several weeks, this strategy was adopted to avoid potential bias because of season or other factors. Because the staff at the Yerkes Regional

  15. [Congenital heart diseases in women].

    PubMed

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

    2013-02-01

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

  16. Congenital prothrombin deficiency.

    PubMed

    Lancellotti, Stefano; De Cristofaro, Raimondo

    2009-06-01

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

  17. 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.

  18. [Congenital insensitivity to pain].

    PubMed

    Danziger, N; Willer, J-C

    2009-02-01

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

  19. Congenital lipoid adrenal hyperplasia

    PubMed Central

    2014-01-01

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

  20. Canine congenital portosystemic encephalopathy.

    PubMed

    Maddison, J E

    1988-08-01

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

  1. [Consanguinity and congenital abnormalities].

    PubMed

    Søgaard, Marie; Vedsted-Jakobsen, Agnete

    2003-04-28

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

  2. [Congenital aortic stenosis].

    PubMed

    Yamaguchi, M

    2001-08-01

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

  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.

  4. 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

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

    PubMed

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

    2017-04-01

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

  6. Congenital parasitic infections: a review.

    PubMed

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

    2012-02-01

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

  7. Personal pollen exposure compared to stationary measurements.

    PubMed

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

    2000-01-01

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

  8. 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

  9. 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.

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

    PubMed Central

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

    2014-01-01

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

  11. 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.

  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. 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.

  15. Auditory Spatial Recalibration in Congenital Blind Individuals

    PubMed Central

    Finocchietti, Sara; Cappagli, Giulia; Gori, Monica

    2017-01-01

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

  16. Signs and Symptoms of Congenital Heart Defects

    MedlinePlus

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

  17. How Are Congenital Heart Defects Treated?

    MedlinePlus

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

  18. How Are Congenital Heart Defects Diagnosed?

    MedlinePlus

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

  19. 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: ...

  20. 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.

  1. 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 ...

  2. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm 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 ...

  3. Genetics Home Reference: congenital leptin deficiency

    MedlinePlus

    ... Facebook Share on Twitter Your Guide to Understanding Genetic Conditions Search MENU Toggle navigation Home Page Search ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Home Health Conditions congenital leptin deficiency congenital leptin ...

  4. Genetics Home Reference: congenital nephrotic syndrome

    MedlinePlus

    ... 4 links) Great Ormond Street Hospital for Children (UK) MedlinePlus Encyclopedia: Congenital Nephrotic Syndrome MedlinePlus Encyclopedia: End- ... Version National Health Service: Nephrotic Syndrome in Children (UK) Orphanet: Congenital nephrotic syndrome, Finnish type Patient Support ...

  5. Treatment Options for Congenital Pigmented Nevus

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

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

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

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

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

    ERIC Educational Resources Information Center

    Lane Community Coll., Eugene, OR.

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

  8. Stationary 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…

  9. 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…

  10. 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,…

  11. 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…

  12. 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…

  13. Vision following extended congenital blindness.

    PubMed

    Ostrovsky, Yuri; Andalman, Aaron; Sinha, Pawan

    2006-12-01

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

  14. Adult Congenital Heart Disease in Pregnancy.

    PubMed

    Lindley, Kathryn J; Conner, Shayna N; Cahill, Alison G

    2015-06-01

    With the success of modern surgical techniques for congenital heart disease, the population of women of childbearing age with congenital heart disease is growing. Because of the significant hemodynamic load of pregnancy, labor, and delivery, women with congenital heart disease require preconceptual risk assessment and expert multidisciplinary care throughout pregnancy. The aim of this review is to discuss the management of cardiovascular, obstetric, and fetal care issues that are commonly encountered during pregnancy in women with congenital heart disease.

  15. Leber's congenital amaurosis: an update.

    PubMed

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

    2003-01-01

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

  16. Lengthening of congenital forearm stumps.

    PubMed

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

    2006-05-01

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

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

    PubMed

    Pinckers, A J

    1979-01-01

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

  18. Accelerate Genomic Aging in Congenital Neutropenia

    DTIC Science & Technology

    2015-08-01

    myeloid leukemia (AML) is perhaps the major clinical concern in patients with severe congenital neutropenia (SCN) and Shwachman- Diamond syndrome (SDS... Diamond syndrome (SDS), cyclic neutropenia, or age-matched healthy controls. Aim 2. To determine whether increased G-CSF signaling accelerates the...agents, such as radiation. 2. KEYWORDS Congenital neutropenia Severe congenital neutropenia Shwachman Diamond syndrome Cyclic neutropenia

  19. Calendar Year 2016 Stationary Source Emissions Inventory

    SciTech Connect

    Evelo, Stacie

    2017-01-01

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

  20. Stationary Engineering. Science 2. Teachers Guide.

    ERIC Educational Resources Information Center

    Frost, Harold J.; Steingress, Frederick M.

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

  1. Test profiles for stationary energy storage applications

    SciTech Connect

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

    1998-09-01

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

  2. Stationary Waves of the Ice Age Climate.

    NASA Astrophysics Data System (ADS)

    Cook, Kerry H.; Held, Isaac M.

    1988-08-01

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

  3. Stationary orbits around the Earth and Mars.

    NASA Astrophysics Data System (ADS)

    Wytrzyszczak, I.

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

  4. 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.

  5. Stationary Flux in Mesoscopic Noisy Cylinders

    NASA Astrophysics Data System (ADS)

    Dajka, J.; Łuczka, J.; Szopa, M.

    2003-07-01

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

  6. 1989 SYMPOSIUM ON STATIONARY COMBUSTION NOX CONTROL

    EPA Science Inventory

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

  7. Stationary plasma thruster evaluation in Russia

    NASA Technical Reports Server (NTRS)

    Brophy, John R.

    1992-01-01

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

  8. Congenital myopathy is caused by mutation of HACD1

    PubMed Central

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

    2013-01-01

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

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

    NASA Astrophysics Data System (ADS)

    Ilyin, Oleg

    2016-11-01

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

  10. Congenital Absence of the Pericardium

    PubMed Central

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

    2014-01-01

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

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

    ERIC Educational Resources Information Center

    Cossu, Giuseppe

    2003-01-01

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

  12. Framework for Assessing Biogenic CO2 Emissions from Stationary Sources

    EPA Science Inventory

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

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

    PubMed

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

    2014-01-01

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

  14. Stationary Phonon Squeezing by Optical Polaron Excitation

    NASA Astrophysics Data System (ADS)

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

    2017-03-01

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

  15. Universal portfolios generated by weakly stationary processes

    NASA Astrophysics Data System (ADS)

    Tan, Choon Peng; Pang, Sook Theng

    2014-12-01

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

  16. Generalized stationary phase approximations for mountain waves

    NASA Astrophysics Data System (ADS)

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

    2016-04-01

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

  17. Stationary Anonymous Sequential Games with Undiscounted Rewards.

    PubMed

    Więcek, Piotr; Altman, Eitan

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

  18. Solar radiation on Mars: Stationary photovoltaic array

    NASA Technical Reports Server (NTRS)

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

    1993-01-01

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

  19. Characterization of Stationary Distributions of Reflected Diffusions

    DTIC Science & Technology

    2014-01-01

    where φ ∈ C2b (RJ) and |∇φ| ≥ 1 on ∂G. Then ∇φ(x) is an inward normal vector at x ∈ ∂G. Let γ(·) be a bounded Lipschitz continuous vector field that...Moriarty, J. (2009). Reflected Brownian motion in a wedge: sum-of- exponential stationary densities. Electronic Communications in Probability, 14, 1-16. [15

  20. Reduction of Stationary Clutter in Radar,

    DTIC Science & Technology

    1980-10-30

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

  1. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

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

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

  3. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

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

  4. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

  5. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

  6. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

  7. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

  8. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

  9. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

  10. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  11. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

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

  12. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

  13. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

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

  14. 30 CFR 56.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  15. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

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

  16. 30 CFR 57.14115 - Stationary grinding machines.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

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

  17. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

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

  18. 30 CFR 77.401 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... OF UNDERGROUND COAL MINES Safeguards for Mechanical Equipment § 77.401 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped with... 30 Mineral Resources 1 2011-07-01 2011-07-01 false Stationary grinding machines;...

  19. Nucleoid restructuring in stationary-state bacteria.

    PubMed

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

    2004-01-01

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

  20. Stationary black holes: large D analysis

    NASA Astrophysics Data System (ADS)

    Suzuki, Ryotaku; Tanabe, Kentaro

    2015-09-01

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

  1. Partially sparse imaging of stationary indoor scenes

    NASA Astrophysics Data System (ADS)

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

    2014-12-01

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

  2. Automated stationary source dynamic spiking. Final report

    SciTech Connect

    McGaughey, J.F.

    1998-06-17

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

  3. Protein patterns of brush-border fragments in congenital lactose malabsorption and in specific hypolactasia of the adult.

    PubMed

    Freiburghaus, A U; Schmitz, J; Schindler, M; Rotthauwe, H W; Kuitunen, P; Launiala, K; Hadorn, B

    1976-05-06

    Brush-border membrane proteins of the small-bowel mucosa were separated on polyacrylamide gels from intestinal biopsy specimens obtained from four children with congenital lactose malabsorption and from two adults with specific hypolactasia. In three patients with the congenital type of lactase deficiency the protein band corresponding to brush-border lactase was reduced in intensity, but was never completely absent. No difference in gel patterns was detected when this pattern in congenital deficiency was compared to that obtained from the two patients with adult-type selective hypolactasia. In one patient with congenital lactose malabsorption the protein band corresponding to lactase activity was not detectable. The findings suggest that the mechanisms leading to low lactase activity in the congenital and adult forms of lactose intolerance are similar.

  4. Congenital syphilis: The continuing scourge

    PubMed Central

    Agrawal, Prachi G.; Joshi, Rajesh; Kharkar, Vidya D.; Bhaskar, M. V.

    2014-01-01

    Congenital syphilis is a severe, disabling infection that occurs due to the transmission of Treponema pallidum across the placenta during pregnancy or from contact with an infectious genital lesion during delivery. However, its early diagnosis is often difficult because more than half of the affected infants are asymptomatic, and the signs in symptomatic infants may be subtle and nonspecific. Although its incidence is declining, this long-forgotten disease continues to affect pregnant women, resulting in considerable perinatal morbidity and mortality. We hereby report a case of a 2-month-old infant with early congenital syphilis presenting with joint swellings and Parrot's pseudoparalysis, a comparative rarity in the present scenario. The report also stresses upon the importance of implementing the Centres for Disease Control and Prevention recommendation that all the pregnant women should be screened for syphilis in the first antenatal visit in the first trimester and again in late pregnancy. PMID:26396451

  5. Operative treatment of congenital torticollis.

    PubMed

    Shim, J S; Jang, H P

    2008-07-01

    There were 47 patients with congenital muscular torticollis who underwent operative release. After a mean follow-up of 74 months (60 to 90), they were divided into two groups, one aged one to four years (group 1) and the other aged five to 16 years (group 2). The outcomes were assessed by evaluating the following parameters: deficits of lateral flexion and rotation, craniofacial asymmetry, surgical scarring, residual contracture, subjective evaluation and degree of head tilt. The craniofacial asymmetry, residual contracture, subjective evaluation and overall scores were similar in both groups. However, group 2 showed superior results to group 1 in terms of the deficits of movement, surgical scarring and degree of head tilt. It is recommended that operative treatment for congenital muscular torticollis is postponed until the patient can comply successfully with post-operative bracing and an exercise programme.

  6. Genetics of Congenital Heart Disease

    PubMed Central

    Richards, Ashleigh A; Garg, Vidu

    2010-01-01

    Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown but genetic factors are being recognized as playing an increasingly important role. Advances in our molecular understanding of normal heart development have led to the identification of numerous genes necessary for cardiac morphogenesis. This work has aided the discovery of an increasing number of monogenic causes of human cardiovascular malformations. More recently, studies have identified single nucleotide polymorphisms and submicroscopic copy number abnormalities as having a role in the pathogenesis of congenital heart disease. This review discusses these discoveries and summarizes our increasing understanding of the genetic basis of congenital heart disease. PMID:21532774

  7. Congenital heart disease in pregnancy.

    PubMed

    Swan, Lorna

    2014-05-01

    The story of congenital heart disease is one of the major successes of medicine in the last 50 years. Heart conditions previously associated with early death are now successfully treated. Many of these women are now in their child-bearing years wishing to have children of their own. All of these women should be offered comprehensive pre-conception counselling by a dedicated multi-disciplinary team. Each woman will present a unique set of cardiac and obstetric challenges that require an individualised assessment of risk and a carefully documented care plan. In this chapter, I describe the most common forms of congenital heart disease and the specific issues that should be assessed before conception. I present a systematic approach to risk stratification and care planning. These lesions range from mild disease with little implications for pregnancy to those with a sizable risk of maternal mortality or complications. I will also discuss fetal risk factors.

  8. Congenital myotonia in related kittens.

    PubMed

    Hickford, F H; Jones, B R; Gething, M A; Pack, R; Alley, M R

    1998-06-01

    Four closely related domestic shorthair kittens were investigated following the detection of abnormalities in their gait, difficulty opening their mouths and muscle hypertrophy. They walked with a stiff, stilted gait, with the stiffness reducing during exercise. Startling of the kittens resulted in hyperextension of the limbs and falling to lateral recumbency, or spasm of the orbicularis oculi muscle, prolonged prolapse of the nictitating membranes and flattening of the ears. One kitten was intermittently dysphonic. Endotracheal intubation of the anaesthetised kittens was difficult due to an inability to open the mouth to a wide angle, and narrowing of the glottis due to muscle spasm. A diagnosis of congenital myotonia was made based on the clinical signs, the kittens' ages, typical myotonic discharges on electromyography, and the histopathological and histochemical findings in muscle. This is the first report of congenital myotonia in this species.

  9. 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.

  10. [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.

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

    SciTech Connect

    Ahmedov, Haji; Aliev, Alikram N.

    2008-09-15

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

  12. [Congenital atrioventricular block and maternal autoimmune diseases].

    PubMed

    Herreman, G; Sauvaget, F; Généreau, T; Galezowski, N

    1990-01-01

    Congenital heart block is rare; it is acquired in utero, definitive and, more often than not, complete. It can be diagnosed by the appearance of fetal bradycardia around the 23rd week of gestation, during ultrasonographic monitoring of pregnancy. Heart block is usually associated with the presence of anti-Ro and/or anti-La antibodies in the mother's serum. These maternal immunological abnormalities can be isolated or associated with an autoimmune disease, usually systemic lupus erythematosus, but also Sjögren's syndrome, or more rarely still, an as yet unclassified connective tissue disease. Anti-Ro and anti-La antibodies cross the placental barrier and react with a fetal heart, leading to acute fetal myocarditis by the 17th week of gestation. When severe, it is lethal, otherwise it can result in degeneration and endocardial fibroelastosis, disrupting conduction and leading to congenital heart block. The ideal treatment would be prevention with corticosteroids. When the mother is Ro or La antibody-positive before pregnancy, elimination of these circulating antibodies can be attempted by treatment with 0.5 mg/kg body wt/d of prednisolone for 3 months. If the treatment is successful, corticotherapy can be prescribed early in the pregnancy to try to protect the fetus. However, there is not always a relationship between maternal anti-Ro antibodies and fetal heart block. If the Ro/La antibody-positive woman is already pregnant, but before her 17th week, it is possible to prescribe dexamethasone, which crosses the placenta and remains active, sometimes in association with plasmapheresis.

  13. [Congenital heart diseases and sports].

    PubMed

    Martínez Quintana, E; Agredo Muñoz, J; Rodríguez González, F; Nieto Lago, V

    2008-04-01

    Congenital heart diseases are a frequent cause of cardiology consultation. New diagnostic and therapeutic techniques have allowed greater survival and quality of life of patients who wish to participate in sports. What they can do is not always easy to determine. Guidelines are helpful at the time of deciding, although finally is the doctor the one that must determine in each case the situation of the patient and the type of exercise they can do depending on the severity and type of cardiopathy.

  14. Congenital deficiency of factor VII.

    PubMed

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  15. [Congenital transmission of Trypanosoma cruzi infection in Argentina].

    PubMed

    Sosa-Estani, Sergio

    2005-01-01

    Congenital transmission of Trypanosoma cruzi infection in Argentina has being increasing its relative importance with control of vectorial and transfusional transmission growth. It is for this reason that vertical transmission is seen, in the future, as a continuous source of infected newborns, even with vectorial and transfusional transmission completely controlled. Preventing vertical transmission of T.cruzi is not possible, but it can be precociously detected, permitting mother and child to be incorporated into the medical attention system, and so allowing the newbornś treatment with practically 100% efficacy. It is estimated that between 800 and 1700 children infected with T. cruzi by congenital transmission are born in Argentina, per year. The implementation of an early strategy of detection for an effective and opportune treatment acquires great relevance as a Public Health measure.

  16. 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.

  17. Vestibular abnormalities in congenital disorders.

    PubMed

    Sando, I; Orita, Y; Miura, M; Balaban, C D

    2001-10-01

    This paper reviews the histopathologic features of vestibular abnormalities in congenital disorders affecting the inner ear, based upon a comprehensive literature survey and a review of cases in our temporal bone collection. The review proceeds in three systematic steps. First, we surveyed associated diseases with the major phenotypic features of congenital abnormalities of the inner ear (including the internal auditory canal and otic capsule). Second, the vestibular anomalies are examined specifically. Finally, the anomalies are discussed from a developmental perspective. Among vestibular anomalies, a hypoplastic endolymphatic duct and sac are observed most frequently. Anomalies of the semicircular canals are also often observed. From embryological and clinical viewpoints, many of these resemble the structural features from fetal stages and appear to be associated with vestibular dysfunction. It is expected that progress in genetic analysis and accumulation of temporal bone specimens with vestibular abnormalities in congenital diseases will provide crucial information not only for pathology of those diseases, but also for genetic factors that are responsible for the specific vestibular abnormalities.

  18. Pulmonary hypertension in congenital shunts.

    PubMed

    Beghetti, Maurice; Tissot, Cecile

    2010-10-01

    Pulmonary arterial hypertension frequently arises in patients with congenital heart disease. The vast majority present with congenital cardiac shunts. Initially these may manifest as left-to-right (i.e. systemic-to-pulmonary) shunts. The natural history of disease progression involves vascular remodeling and dysfunction that lead to increased pulmonary vascular resistance and, finally, to the development of Eisenmenger's syndrome, which is the most advanced form. The anatomical, pathological and structural abnormalities occurring in the pulmonary circulation of these patients are, to some extent, similar to those observed in other forms of pulmonary arterial hypertension. This understanding has recently led to significant changes in the management of Eisenmenger's syndrome, with the introduction of treatment specifically targeting pulmonary vascular disease. Early closure of the cardiac shunt remains the best way of preventing pulmonary vascular lesions. However, it is still not clear which preoperative parameters predict safe and successful repair, though hemodynamic evaluation is still routinely used for assessment. Postoperative pulmonary hypertension, both in the immediate period after surgical repair and during long-term follow-up, remains a real therapeutic challenge. The clinical situation of a single ventricle with Fontan circulation also presents difficulties when pulmonary vascular lesions are present. This article reviews pulmonary hypertension associated with congenital shunts and discusses a number of the specific problems encountered.

  19. 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

  20. Ground roll attenuation using non-stationary matching filtering

    NASA Astrophysics Data System (ADS)

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

    2015-12-01

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

  1. [Congenital retinal folds in different clinical cases].

    PubMed

    Munteanu, M

    2005-01-01

    We present 12 clinical cases of congenital retinal folds with different etiologies: posterior primitive vitreous persistency and hyperplasia (7 cases),retinocytoma (1 case). retinopathy of prematurity (1 case), astrocytoma of the retina (1 case), retinal vasculitis (1 case), Goldmann-Favre syndrome (1 case). Etiopathogenic and nosological aspects are discussed; the congenital retinal folds are interpreted as a symptom in a context of a congenital or acquired vitreo-retinal pathology.

  2. Cleft palate caused by congenital teratoma.

    PubMed

    Veyssière, Alexis; Streit, Libor; Traoré, Hamady; Bénateau, Hervé

    2017-02-01

    A cleft palate results from incomplete fusion of the lateral palatine processes, the median nasal septum and the median palatine process. This case report describes a rare case of congenital teratoma originating from the nasal septum that may have interfered with the fusion of the palatal shelves during embryonic development, resulting in a cleft palate. An infant girl was born at 40 weeks of gestation weighing 3020 g with a complete cleft palate associated with a large central nasopharyngeal tumour. Computed tomography (CT) of the head showed a well defined mass of mixed density. The tumour was attached to the nasal septum in direct contact with the cleft palate. A biopsy confirmed the teratoma. Tumour resection was performed at 5 months, soft palate reconstruction at 7 months and hard palate closure at 14 months. There was no sign of local recurrence 1 year later. Most teratomas are benign and the prognosis is usually good. However, recurrence is not rare if germ cell carcinomatous foci are present within the teratoma. For these reasons, we advocate the use of a two-stage procedure in which closure of the cleft palate is postponed until histological examination confirms complete excision of the teratoma.

  3. 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

  4. Simultaneous repair of pectus excavatum and pulmonary valve implantation years after complete repair of tetralogy of Fallot.

    PubMed

    Tuncer, Eylem; Vuran, Ali Can; Ozyuksel, Arda; Yeginsu, Ali; Ceyran, Hakan

    2017-02-01

    Although pectus excavatum is a common congenital abnormality of the chest wall, its coexistence with congenital heart defects is rarely encountered. In this report, we present a young adult who was re-operated for pulmonary valve regurgitation and pectus excavatum years after complete repair of tetralogy of Fallot. The surgical challenge and pitfalls are discussed along with a brief review of the literature.

  5. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    MedlinePlus

    ... Metabolic Diseases Foundation for Ichthyosis and Related Skin Types (FIRST): Congenital Ichthyosiform Erythroderma National Organization for Rare Disorders (NORD): Ichthyosis University of Kansas ...

  6. The changing epidemiology of congenital heart disease.

    PubMed

    van der Bom, Teun; Zomer, A Carla; Zwinderman, Aeilko H; Meijboom, Folkert J; Bouma, Berto J; Mulder, Barbara J M

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart failure and arrhythmias are the most prominent. Accordingly, these patients need frequent follow-up by physicians with specific knowledge in the field of congenital heart disease. However, planning of care for this population is difficult, because the number of patients currently living with congenital heart disease is difficult to measure. Birth prevalence estimates vary widely according to different studies, and survival rates have not been well recorded. Consequently, the prevalence of congenital heart disease is unclear, with estimates exceeding the number of patients currently seen in cardiology clinics. New developments continue to influence the size of the population of patients with congenital heart disease. Prenatal screening has led to increased rates of termination of pregnancy. Improved management of complications has changed the time and mode of death caused by congenital heart disease. Several genetic and environmental factors have been shown to be involved in the etiology of congenital heart disease, although this knowledge has not yet led to the implementation of preventative measures. In this Review, we give an overview of the etiology, birth prevalence, current prevalence, mortality, and complications of congenital heart disease.

  7. History of the Congenital Heart Surgeons' Society.

    PubMed

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society.

  8. Genetics Home Reference: nonsyndromic congenital nail disorder 10

    MedlinePlus

    ... congenital nail disorder 10 nonsyndromic congenital nail disorder 10 Enable Javascript to view the expand/collapse boxes. ... All Close All Description Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and ...

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

    PubMed

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

    2017-03-22

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

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

    PubMed Central

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

    2017-01-01

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

  11. Universal BPS structure of stationary supergravity solutions

    NASA Astrophysics Data System (ADS)

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

    2009-07-01

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

  12. Stationary equilibrium singularity distributions in the plane

    NASA Astrophysics Data System (ADS)

    Newton, P. K.; Ostrovskyi, V.

    2012-02-01

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

  13. Stationary Black Holes: Uniqueness and Beyond.

    PubMed

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

    2012-01-01

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

  14. Population inversion in a stationary recombining plasma

    SciTech Connect

    Otsuka, M.

    1980-12-01

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

  15. On the Angle for Stationary Random Fields.

    DTIC Science & Technology

    1985-04-01

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

  16. 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.

  17. Treatment of steroid-resistant post-transplant nephrotic syndrome with cyclophosphamide in a child with congenital nephrotic syndrome.

    PubMed

    Flynn, J T; Schulman, S L; deChadarevian, J P; Dunn, S P; Kaiser, B A; Polinsky, M S; Baluarte, H J

    1992-11-01

    A child with congenital nephrotic syndrome underwent renal transplantation, was treated for acute rejection, and then developed nephrotic syndrome and renal failure. He was felt to have minimal change disease on allograft biopsy, but failed to respond to therapy with corticosteroids. Cyclophosphamide was substituted for cyclosporine and rapidly induced a complete remission of his nephrotic syndrome. We feel that this case not only represents an important example of a useful therapeutic approach to the child with congenital nephrotic syndrome who develops nephrotic syndrome post transplantation, and also raises questions concerning the pathogenesis of congenital nephrotic syndrome.

  18. Microparticle column geometry in acoustic stationary fields.

    PubMed

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

    2003-01-01

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

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

    NASA Technical Reports Server (NTRS)

    Ponath, H. E.

    1984-01-01

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

  20. A Case Series: Congenital Hyperinsulinism

    PubMed Central

    Alaei, Mohammad Reza; Akbaroghli, Susan; Keramatipour, Mohammad; Alaei, Ali

    2016-01-01

    Introduction Congenital hyperinsulinism is a rare inherited disease caused by mutations in genes responsible for β-cell’s function in glucose hemostasis leading to profound and recurrent hypoglycemia. The incidence of the disease is about 1 in 50000 newborns. Mutations in at least 8 genes have been reported to cause congenital hyperinsulinism. Mutations in ABCC8 gene are the most common cause of the disease that account for approximately 40% of cases. Less frequently KCNJ11 gene mutations are responsible for the disease. Mutations in other genes such as HADH account for smaller fractions of cases. In nearly half of the cases the cause remains unknown. Case Presentation During the period between 2005 and 2010, a total of six patients with persistent hyperinsulinism were investigated at Mofid Children’s Hospital. In this study all of the patients had early onset hyperinsulinemia. Five patients had consanguineous parents. After failure of medical treatment in three patients, They were undergone pancreatectomy. Two diffuse types and one focal type had been recognized in pathological analysis of intra-operative frozen specimens of pancreas in these patients. Genetic analysis was performed using polymerase chain reaction followed by Sanger sequencing for ABCC8, KCNJ11and HADH genes. In five patients homozygous mutations in these genes were identified that indicated an autosomal recessive pattern of inheritance. In one patient a heterozygous mutation in ABCC8 was identified, indicating possible autosomal dominant inheritance of the disease. Conclusions Congenital hyperinsulinism can have different inheritance pattern. Autosomal recessive inheritance is more common but less frequently autosomal dominant inheritance can be seen. It appears that mutations in ABCC8 gene can show both autosomal recessive and autosomal dominant inheritance of the disease. PCR followed by Sanger sequencing proved to be an efficient method for mutation detection in three investigated genes

  1. Immunohistochemical study of congenital gingival granular cell tumor (congenital epulis).

    PubMed

    Takahashi, H; Fujita, S; Satoh, H; Okabe, H

    1990-11-01

    The congenital gingival granular cell tumor (CGGT) or congenital epulis is a rare lesion of unknown origin found only in newborn infants. The tumor consists mainly of large eosinophilic granular cells arranged in solid nests that are separated by thin fibrovascular areas. In addition, there are some spindle-shaped cells and medium-sized polygonal cells (so-called interstitial cells) among the neoplastic granular cells. Three CGGTs were investigated with a panel of poly- and monoclonal antibodies, using immunoperoxidase methods on formalin fixed paraffin embedded sections. Neoplastic granular cells of these three cases show cytoplasmic staining for neuron-specific enolase (NSE) and vimentin. However, all other reactions were negative. Our results suggest that the lesion may be derived from uncommitted nerve-related mesenchymal cells. On the other hand, interstitial cells show strong S-100 protein-, cytokeratin-, vimentin-, and NSE-immunostainings, and these cells are consistent with neuroendocrine nature. The presence of a biphasic cell population with granular cells and interstitial cells must be considered the main immunohistochemical feature.

  2. Congenital dystrophic medial rectus muscles

    PubMed Central

    Murthy, Ramesh

    2017-01-01

    We report two patients, one with congenital dystrophic medial rectus muscles and one with absence of the medial rectus muscles; in addition, one of them had absence of the lateral rectus muscles. While absence of the superior oblique and superior rectus has been more commonly reported in literature, especially with craniofacial syndromes, our patients were nonsyndromic. Considering the risk of anterior segment ischemia, correction of the large-angle exotropia was performed by horizontal rectus muscle surgery where possible, along with transfer of the superior oblique tendon to the superior part of the normal medial rectus muscle insertion area to create a tethering effect with a good outcome. PMID:28300745

  3. 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

  4. Laboratory Diagnosis of Congenital Toxoplasmosis

    PubMed Central

    Pomares, Christelle

    2016-01-01

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

  5. Short stature with congenital ichthyosis.

    PubMed

    Lakhani, Som J; Lakhani, Om J

    2015-12-09

    PIBIDS syndrome (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature) is a variant of trichothiodystrophy. It is a rare form of autosomal recessive congenital ichthyosis. Short stature is a vital component of PIBIDS syndrome. We present the cases of two siblings in whom we diagnosed PIBIDS syndrome. On evaluation for short stature, they were found to have severe vitamin D deficiency, which on correction led to the patients having considerable gain in stature. With this case, we would also like to propose that vitamin D deficiency could be one of the treatable causes of short stature in PIBIDS syndrome.

  6. Purpura-associated congenital lymphedema.

    PubMed

    Berti, Samantha; Pieri, Alessandro; Lotti, Torello; Duranti, Alberto; Panelos, John; De Martino, Maurizio; Moretti, Silvia

    2009-01-01

    An 8-year-old girl referred to our Department for a two-month worsening of congenital primary lymphedema of the lower limb and for the appearance of several purpuric lesions on the right thigh and knee. We diagnosed a lichenoid pigmented purpura of Gougerot and Blum in a patient with Milroy disease, complicated by an insufficiency of anterior saphena. We treated the patient with topical steroids and compression stockings, until surgical intervention of phlebectomy. We report this case for the rarity of the disease, for the even more rare association with lichenoid pigmented purpura and for cutaneous immunopathological findings.

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

    PubMed

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

    2017-03-01

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

  8. Rapid On-Line Control to Reaching Is Preserved in Children With Congenital Spastic Hemiplegia: Evidence From Double-Step Reaching Performance.

    PubMed

    Hyde, Christian; Fuelscher, Ian; Enticott, Peter G; Reid, Susan M; Williams, Jacqueline

    2015-08-01

    This study aimed to investigate the integrity of on-line control of reaching in congenital spastic hemiplegia in light of disparate evidence. Twelve children with and without spastic hemiplegia (11-17 years old) completed a double-step reaching task requiring them to reach and touch a target that remained stationary for most trials (viz nonjump trial) but unexpectedly displaced laterally at movement onset for a minority of trials (20%: known as jump trials). Although children with spastic hemiplegia were generally slower than age-matched controls, they could account for target perturbation at age-appropriate levels shown by a lack of interaction effect on movement time and nonsignificant group difference for time to reach trajectory correction on jump trials. Our data suggest that at a group level, on-line control of reaching may be age-appropriate in spastic hemiplegia. However, our data also highlight the need to experimentally acknowledge the considerable heterogeneity of the spastic hemiplegia population when investigating motor cognition.

  9. Complete Androgen Insensitivity Syndrome in Three Sisters

    PubMed Central

    Verim, Levent

    2014-01-01

    Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority of CAIS patients apply to hospital with the complaint of primary amenorrhea or infertility. Given that CAIS patients are all phenotypically female while having 46, XY karyotypes, CAIS diagnosis should be disclosed in an age-appropriate manner preferably by a mental health professional. Cases are reported here for three 46XY siblings consistent with CAIS. PMID:24520507

  10. 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

  11. Genetics Home Reference: congenital central hypoventilation syndrome

    MedlinePlus

    ... on PubMed Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B ... Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation ...

  12. Congenital psoriasis: case report and literature review.

    PubMed

    Lehman, Julia S; Rahil, Anudeep K

    2008-01-01

    While childhood psoriasis is fairly common, congenital psoriasis appears to be rare and has not been well characterized. We present a patient with histologically confirmed congenital psoriasis. By reviewing the literature, we aim to both define this disease and compare it to infantile and childhood psoriasis. Electronic searches found articles reporting patients with biopsy-proven congenital psoriasis. We recorded clinical features, such as family history, anatomic involvement, and disease severity. We compared these data with previous descriptions of infantile and childhood psoriasis. We included nine patients with congenital psoriasis in our analysis. No patient had a first-degree family history of psoriasis. While the face, scalp, chest, and trunk were frequently involved, the buttocks generally were spared. Several patients had persistent disease despite therapy. In this series, congenital psoriasis differed from infantile and childhood psoriasis in several respects. Specifically, congenital psoriasis was associated with a lower prevalence of relevant family history, which could increase over time, and a different pattern of anatomic involvement, which may reflect exposure to age-associated environmental factors. Although several patients with congenital psoriasis had severe disease, this likely represents publication bias. Additional reports of congenital psoriasis with extended follow-up are needed to better characterize this condition.

  13. Macular colobomas in Leber's congenital amaurosis.

    PubMed

    Margolis, S; Scher, B M; Carr, R E

    1977-01-01

    Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

  14. A case and review of congenital leukonychia.

    PubMed

    Pathipati, Akhilesh S; Ko, Justin M; Yost, John M

    2016-10-15

    Leukonychia refers to a white discoloration of the nails. Although several conditions may cause white nails, a rare, isolated, congenital form of the disease is hypothesized to stem from disordered keratinization of the nail plate. Herein, we report a case of a 41-year-old woman with congenital leukonychia and review prior cases.

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

    SciTech Connect

    Ron Myers

    2006-04-15

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

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

    PubMed

    Hiremath, Mitavachan; Derendorf, Karen; Vogt, Thomas

    2015-04-21

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

  17. Hereditary congenital unilateral deafness: a new disorder?

    PubMed

    Dikkers, Frederik G; Verheij, Joke B G M; van Mechelen, Monique

    2005-04-01

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

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

    PubMed

    Gambin, Anna; Lasota, Sławomir; Rutkowski, Michał

    2006-01-01

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

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

    PubMed

    Gambin, Anna; Lasota, Sławomir; Rutkowski, Michał

    2011-01-01

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

  20. Persistent left superior vena cava in cardiac congenital surgery.

    PubMed

    Giuliani-Poncini, Cristina; Perez, Marie-Hélène; Cotting, Jacques; Hurni, Michel; Sekarski, Nicole; Pfammatter, Jean-Pierre; Di Bernardo, Stefano

    2014-01-01

    Persistent left superior vena cava (LSVC) is a relatively frequent finding in congenital cardiac malformation. The scope of the study was to analyze the timing of diagnosis of persistent LSVC, the timing of diagnosis of associated anomalies of the coronary sinus, and the global impact on morbidity and mortality of persistent LSVC in children with congenital heart disease after cardiac surgery. Retrospective analysis of a cohort of children after cardiac surgery on bypass for congenital heart disease. Three hundred seventy-one patients were included in the study, and their median age was 2.75 years (IQR 0.65-6.63). Forty-seven children had persistent LSVC (12.7 %), and persistent LSVC was identified on echocardiography before surgery in 39 patients (83 %). In three patients (6.4 %) with persistent LSVC, significant inflow obstruction of the left ventricle developed after surgery leading to low output syndrome or secondary pulmonary hypertension. In eight patients (17 %), persistent LSVC was associated with a partially or completely unroofed coronary sinus and in two cases (4 %) with coronary sinus ostial atresia. Duration of mechanical ventilation was significantly shorter in the control group (1.2 vs. 3.0 days, p = 0.04), whereas length of stay in intensive care did not differ. Mortality was also significantly lower in the control group (2.5 vs. 10.6 %, p = 0.004). The results of study show that persistent LSVC in association with congenital cardiac malformation increases the risk of mortality in children with cardiac surgery on cardiopulmonary bypass. Recognition of a persistent LSVC and its associated anomalies is mandatory to avoid complications during or after cardiac surgery.

  1. Stationary charged scalar clouds around black holes in string theory

    NASA Astrophysics Data System (ADS)

    Bernard, Canisius

    2016-10-01

    It was reported that Kerr-Newman black holes can support linear charged scalar fields in their exterior regions. These stationary massive charged scalar fields can form bound states, which are called stationary scalar clouds. In this paper, we show that Kerr-Sen black holes can also support stationary massive charged scalar clouds by matching the near- and far-region solutions of the radial part of the Klein-Gordon wave equation. We also review stationary scalar clouds within the background of static electrically charged black hole solutions in the low-energy limit of heterotic string field theory, namely, the Gibbons-Maeda-Garfinkle-Horowitz-Strominger black holes.

  2. Exchangeable, stationary, and entangled chains of Gaussian states

    NASA Astrophysics Data System (ADS)

    Parthasarathy, K. R.; Sengupta, Ritabrata

    2015-10-01

    We explore conditions on the covariance matrices of a consistent chain of mean zero finite mode Gaussian states in order that the chain may be exchangeable or stationary. For an exchangeable chain, our conditions are necessary and sufficient. Every stationary Gaussian chain admits an asymptotic entropy rate. Whereas an exchangeable chain admits a simple expression for its entropy rate, in our examples of stationary chains, the same admits an integral formula based on the asymptotic eigenvalue distribution for Toeplitz matrices. An example of a stationary entangled Gaussian chain is given.

  3. L0 Regularized Stationary-time Estimation for Crowd Analysis.

    PubMed

    Yi, Shuai; Wang, Xiaogang; Lu, Cewu; Jia, Jiaya; Li, Hongsheng

    2016-04-29

    In this paper, we tackle the problem of stationary crowd analysis which is as important as modeling mobile groups in crowd scenes and finds many important applications in crowd surveillance. Our key contribution is to propose a robust algorithm for estimating how long a foreground pixel becomes stationary. It is much more challenging than only subtracting background because failure at a single frame due to local movement of objects, lighting variation, and occlusion could lead to large errors on stationary-time estimation. To achieve robust and accurate estimation, sparse constraints along spatial and temporal dimensions are jointly added by mixed partials (which are second-order gradients) to shape a 3D stationary-time map. It is formulated as an L0 optimization problem. Besides background subtraction, it distinguishes among different foreground objects, which are close or overlapped in the spatio-temporal space by using a locally shared foreground codebook. The proposed technologies are further demonstrated through three applications. 1) Based on the results of stationary-time estimation, twelve descriptors are proposed to detect four types of stationary crowd activities. 2) The averaged stationary-time map is estimated to analyze crowd scene structures. 3) The result of stationary-time estimation is also used to study the influence of stationary crowd groups to traffic patterns.

  4. Generalization of Carey's equality and a theorem on stationary population.

    PubMed

    Srinivasa Rao, Arni S R; Carey, James R

    2015-09-01

    Carey's Equality pertaining to stationary models is well known. In this paper, we have stated and proved a fundamental theorem related to the formation of this Equality. This theorem will provide an in-depth understanding of the role of each captive subject, and their corresponding follow-up duration in a stationary population. We have demonstrated a numerical example of a captive cohort and the survival pattern of medfly populations. These results can be adopted to understand age-structure and aging process in stationary and non-stationary population models.

  5. The problem on stationary states in self gravitational field

    NASA Astrophysics Data System (ADS)

    Fisenko, Stanislav

    2017-01-01

    To follow is the problem on stationary states of an electron in its own gravitational field where the boundary conditions earlier described by are made specific. The simplest approximation provides an assessment of the energy spectrum of stationary states only. Nevertheless, this is enough to confirm the existence of such stationary states and to further elaborate a detailed solution of the problem on stationary states including determination of all the quantum numbers' spectra and corresponding wave functions. No other matters are discussed here. The case in hand is a purely mathematical problem, further physical interpretation of which is of a fundamental value.

  6. Congenital PCB poisoning: a reevaluation

    SciTech Connect

    Miller, R.W.

    1985-05-01

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

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

    ERIC Educational Resources Information Center

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

    2005-01-01

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

  8. Landau superfluids as nonequilibrium stationary states

    SciTech Connect

    Wreszinski, Walter F.

    2015-01-15

    We define a superfluid state to be a nonequilibrium stationary state (NESS), which, at zero temperature, satisfies certain metastability conditions, which physically express that there should be a sufficiently small energy-momentum transfer between the particles of the fluid and the surroundings (e.g., pipe). It is shown that two models, the Girardeau model and the Huang-Yang-Luttinger (HYL) model, describe superfluids in this sense and, moreover, that, in the case of the HYL model, the metastability condition is directly related to Nozières’ conjecture that, due to the repulsive interaction, the condensate does not suffer fragmentation into two (or more) parts, thereby assuring its quantum coherence. The models are rigorous examples of NESS in which the system is not finite, but rather a many-body system.

  9. Stationary turbine component with laminated skin

    DOEpatents

    James, Allister W [Orlando, FL

    2012-08-14

    A stationary turbine engine component, such as a turbine vane, includes a internal spar and an external skin. The internal spar is made of a plurality of spar laminates, and the external skin is made of a plurality of skin laminates. The plurality of skin laminates interlockingly engage the plurality of spar laminates such that the external skin is located and held in place. This arrangement allows alternative high temperature materials to be used on turbine engine components in areas where their properties are needed without having to make the entire component out of such material. Thus, the manufacturing difficulties associated with making an entire component of such a material and the attendant high costs are avoided. The skin laminates can be made of advanced generation single crystal superalloys, intermetallics and refractory alloys.

  10. Flood frequency analysis of historical flood data under stationary and non-stationary modelling

    NASA Astrophysics Data System (ADS)

    Machado, M. J.; Botero, B. A.; López, J.; Francés, F.; Díez-Herrero, A.; Benito, G.

    2015-06-01

    Historical records are an important source of information on extreme and rare floods and fundamental to establish a reliable flood return frequency. The use of long historical records for flood frequency analysis brings in the question of flood stationarity, since climatic and land-use conditions can affect the relevance of past flooding as a predictor of future flooding. In this paper, a detailed 400 yr flood record from the Tagus River in Aranjuez (central Spain) was analysed under stationary and non-stationary flood frequency approaches, to assess their contribution within hazard studies. Historical flood records in Aranjuez were obtained from documents (Proceedings of the City Council, diaries, chronicles, memoirs, etc.), epigraphic marks, and indirect historical sources and reports. The water levels associated with different floods (derived from descriptions or epigraphic marks) were computed into discharge values using a one-dimensional hydraulic model. Secular variations in flood magnitude and frequency, found to respond to climate and environmental drivers, showed a good correlation between high values of historical flood discharges and a negative mode of the North Atlantic Oscillation (NAO) index. Over the systematic gauge record (1913-2008), an abrupt change on flood magnitude was produced in 1957 due to constructions of three major reservoirs in the Tagus headwaters (Bolarque, Entrepeñas and Buendia) controlling 80% of the watershed surface draining to Aranjuez. Two different models were used for the flood frequency analysis: (a) a stationary model estimating statistical distributions incorporating imprecise and categorical data based on maximum likelihood estimators, and (b) a time-varying model based on "generalized additive models for location, scale and shape" (GAMLSS) modelling, which incorporates external covariates related to climate variability (NAO index) and catchment hydrology factors (in this paper a reservoir index; RI). Flood frequency

  11. Flood frequency analysis of historical flood data under stationary and non-stationary modelling

    NASA Astrophysics Data System (ADS)

    Machado, M. J.; Botero, B. A.; López, J.; Francés, F.; Díez-Herrero, A.; Benito, G.

    2015-01-01

    Historical records are an important source of information about extreme and rare floods with a great value to establish a reliable flood return frequency. The use of long historic records for flood frequency analysis brings in the question of flood stationarity, since climatic and land-use conditions can affect the relevance of past flooding as a predictor of future flooding. In this paper, a detailed 400 year flood record from the Tagus River in Aranjuez (Central Spain) was analysed under stationary and non-stationary flood frequency approaches, to assess their implications on hazard studies. Historical flood records in Aranjuez were obtained from documents (Proceedings of the City Council, diaries, chronicles, memoirs, etc.), epigraphic marks, and indirect historical sources and reports. The water levels associated with different floods (derived from descriptions or epigraphic marks) were computed into discharge values using a one-dimensional hydraulic model. Secular variations on flood magnitude and frequency, found to respond to climate and environmental drivers, showed a good correlation between high values of historical flood discharges and a negative mode of the North Atlantic Oscillation index (NAO index). Over the systematic gauge record (1913-2008), an abrupt change on flood magnitude was produced in 1957 due to constructions of three major reservoirs in the Tagus headwaters (Bolarque, Entrepeñas and Buendia) controlling 80% of the watershed surface draining to Aranjuez. Two different models were used for the flood frequency analysis: (a) a stationary model estimating statistical distributions incorporating imprecise and categorical data based on maximum likelihood estimators; (b) a time-varying model based on "generalized additive models for location, scale and shape" (GAMLSS) modelling, that incorporates external covariates related to climate variability (NAO index) and catchment hydrology factors (in this paper a reservoir index; RI). Flood frequency

  12. Baroclinic stationary waves in aquaplanet models

    NASA Astrophysics Data System (ADS)

    Lucarini, V.; Zappa, G.

    2012-04-01

    An aquaplanet model is used to study the nature of the highly persistent low frequency waves that have been observed in models forced by zonally symmetric boundary conditions. Using the Hayashi spectral analysis of the extratropical waves, we find that a quasi-stationary (QS) wave five belongs to a wave packet obeying a well defined dispersion relation with eastward group velocity. The components of the dispersion relation with k>5 baroclinically convert eddy available potential energy into eddy kinetic energy, while those with k<5 are baroclinically neutral. In agreement with the Green's model of baroclinic instability, the wave five is weakly unstable, and the inverse energy cascade, which had been previously proposed as a main forcing for this type of waves, only acts as a positive feedback on its predominantly baroclinic energetics. The QS wave is reinforced by a phase lock to an analogous pattern in the tropical convection, which provides further amplification to the wave. We also find that the Pedlosky bounds on the phase speed of unstable waves provide guidance in explaining the latitudinal structure of the energy conversion, which is shown to be more enhanced where the zonal westerly surface wind is weaker. The wave energy is then trapped in the wave guide created by the upper tropospheric jet stream. In agreement with Green's theory, as the equator to pole SST difference is reduced the stationary marginally stable component shifts toward higher wavenumbers, while the wave five becomes neutral and westward propagating. Some properties of the aquaplanet QS waves are found in interesting agreement with a low frequency wave observed by Salby (1982) in the southern hemisphere DJF, so that this perspective on low frequency variability might be, apart from its value in terms of basic geophysical fluid dynamics, of specific interest for studying the Earth's atmosphere.

  13. Self-organized stationary states of tokamaks

    NASA Astrophysics Data System (ADS)

    Jardin, Stephen

    2015-11-01

    We report here on a nonlinear mechanism that forms and maintains a self-organized stationary (sawtooth free) state in tokamaks. This process was discovered by way of extensive long-time simulations using the M3D-C1 3D extended MHD code in which new physics diagnostics have been added. It is well known that most high-performance modes of tokamak operation undergo ``sawtooth'' cycles, in which the peaking of the toroidal current density triggers a periodic core instability which redistributes the current density. However, certain modes of operation are known, such as the ``hybrid'' mode in DIII-D, ASDEX-U, JT-60U and JET, and the long-lived modes in NSTX and MAST, which do not experience this cycle of instability. Empirically, it is observed that these modes maintain a non-axisymmetric equilibrium which somehow limits the peaking of the toroidal current density. The physical mechanism responsible for this has not previously been understood, but is often referred to as ``flux-pumping,'' in which poloidal flux is redistributed in order to maintain q0 >1. In this talk, we show that in long-time simulations of inductively driven plasmas, a steady-state magnetic equilibrium may be obtained in which the condition q0 >1 is maintained by a dynamo driven by a stationary marginal core interchange mode. This interchange mode, unstable because of the pressure gradient in the ultra-low shear region in the center region, causes a (1,1) perturbation in both the electrostatic potential and the magnetic field, which nonlinearly cause a (0,0) component in the loop voltage that acts to sustain the configuration. This hybrid mode may be a preferred mode of operation for ITER. We present parameter scans that indicate when this sawtooth-free operation can be expected.

  14. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  15. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions.

    PubMed

    Silversides, Candice K; Salehian, Omid; Oechslin, Erwin; Schwerzmann, Markus; Vonder Muhll, Isabelle; Khairy, Paul; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Warnes, Carole; Therrien, Judith

    2010-03-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and multisystemic effects of single ventricle physiology, cyanosis, systemic right ventricles, complex intracardiac baffles and failing subpulmonary right ventricles. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part III of the guidelines includes recommendations for the care of patients with complete transposition of the great arteries, congenitally corrected transposition of the great arteries, Fontan operations and single ventricles, Eisenmenger's syndrome, and cyanotic heart disease. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts, which are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org.

  16. Norrbottnian congenital insensitivity to pain.

    PubMed

    Minde, Jan K

    2006-04-01

    Congenital insensitivity to pain is a rare hereditary neuropathy. We present patients from a large family in Norrbotten, Sweden with a mutation in the nerve growth factor beta gene (NGFbeta). Using a model of recessive inheritance, we identified an 8.3-Mb region on chromosome 1p11.2-p13.2 shared by the affected individuals in the family. Analysis of candidate genes in the disease-critical region revealed a mutation in the coding region of the NGFbeta gene specific for the disease haplotype. All three severely affected individuals were homozygous for the mutation. The disease haplotype was also observed in both unaffected and mildly affected family members, but in heterozygote form. We have identified 43 patients, 3 homozygous and 40 heterozygous. The homozygous patients have a severe congenital form with onset of symptoms at an early age, most often affecting the lower extremities with insidious progressive joint swellings or painless fractures. Fracture healing was normal, but the arthropathy was progressive, resulting in disabling Charcot joints with gross deformity and instability. These patients lacked deep pain perception in bones and joints and had no protective reflexes, leading to gross bone and joint complications. They also had abnormal temperature perception but normal ability to sweat. There was no mental retardation. Clinically, they fit best into the group HSAN type V. Sural nerve biopsies showed a moderate loss of thin myelinated fibers (Adelta-fibers) and a severe reduction of unmyelinated fibers (C-fibers). 14 of the 40 heterozygous adult patients had mild or moderate problems with joint deformities, usually with only slight discomfort. Treatment was conservative with (if needed) different kinds of orthosis and in three cases joint replacement. Nine patients had neuropathy, and nine patients had no symptoms. In congenital disorders like these, it is important to evaluate the age and also the slowly progressive nature, when considering treatment

  17. Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

    PubMed

    Gerber, Sylvie; Hanein, Sylvain; Perrault, Isabelle; Delphin, Nathalie; Aboussair, Nisrine; Leowski, Corinne; Dufier, Jean-Louis; Roche, Olivier; Munnich, Arnold; Kaplan, Josseline; Rozet, Jean-Michel

    2007-12-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca. 43% of families and are responsible for a congenital severe stationary cone-rod dystrophy (Type I, 60% of LCA) while the seven remaining genes account for 32% of patients and are responsible for a progressive yet severe rod-cone dystrophy (Type II, 40% of LCA ). Recently, mutations in LCA5, encoding the ciliary protein lebercilin, were reported to be a rare cause of leber congenital amaurosis. The purpose of this study was to evaluate the involvement of this novel gene and to look for genotype-phenotype correlations. Here we report the identification of three novel LCA5 mutations (3/3 homozygous) in three families confirming the modest implication of this gene in our series (3/179; 1.7%). Besides, we suggest that the phenotype of these patients affected with a particularly severe form of LCA type II may represent a continuum with LCA type I.

  18. Hawking radiation of stationary and non-stationary Kerr-de Sitter black holes

    NASA Astrophysics Data System (ADS)

    Singh, T. Ibungochouba

    2015-07-01

    Hawking radiation of the stationary Kerr-de Sitter black hole is investigated using the relativistic Hamilton-Jacobi method. Meanwhile, extending this work to a non-stationary black hole using Dirac equations and generalized tortoise coordinate transformation, we derived the locations, the temperature of the thermal radiation as well as the maximum energy of the non-thermal radiation. It is found that the surface gravity and the Hawking temperature depend on both time and different angles. An extra coupling effect is obtained in the thermal radiation spectrum of Dirac particles which is absent from thermal radiation of scalar particles. Further, the chemical potential derived from the thermal radiation spectrum of scalar particle has been found to be equal to the highest energy of the negative energy state of the scalar particle in the non-thermal radiation for the Kerr-de Sitter black hole. It is also shown that for stationary black hole space time, these two different methods give the same Hawking radiation temperature.

  19. Congenital megacalycosis with IgA nephropathy: a case report and review of the literature.

    PubMed

    Turkmen, Ercan; Yildirim, Tolga; Ciftci, Turkmen; Altindal, Mahmut; Akinci, Devrim; Baydar, Dilek Ertoy; Bilen, Cenk Yucel; Arici, Mustafa

    2013-01-01

    Congenital megacalycosis is a rare renal disease characterized by calyceal dilatation without pelvic or ureteral obstruction. If not accompanied by nephrolithiasis and urinary tract infection, this disease is completely benign and does not cause renal dysfunction. We present a case of congenital megacalycosis that was diagnosed at the age of 41 (oldest case in the literature) after admitting with hematuria and acute renal dysfunction. IgA nephropathy was also diagnosed in this patient. Since renal dysfunction is not likely in these patients, if encountered; renal biopsy should be performed although technically difficult to diagnose the cause of this dysfunction.

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

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped with: (1) Peripheral hoods (less than 90° throat openings)...

  1. 30 CFR 75.1723 - Stationary grinding machines; protective devices.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... devices. 75.1723 Section 75.1723 Mineral Resources MINE SAFETY AND HEALTH ADMINISTRATION, DEPARTMENT OF....1723 Stationary grinding machines; protective devices. (a) Stationary grinding machines other than special bit grinders shall be equipped with: (1) Peripheral hoods (less than 90° throat openings)...

  2. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2014 CFR

    2014-04-01

    ... 21 Food and Drugs 8 2014-04-01 2014-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  3. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2013 CFR

    2013-04-01

    ... 21 Food and Drugs 8 2013-04-01 2013-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

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

    Code of Federal Regulations, 2012 CFR

    2012-04-01

    ... 21 Food and Drugs 8 2012-04-01 2012-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  5. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 21 Food and Drugs 8 2010-04-01 2010-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  6. 21 CFR 892.1680 - Stationary x-ray system.

    Code of Federal Regulations, 2011 CFR

    2011-04-01

    ... 21 Food and Drugs 8 2011-04-01 2011-04-01 false Stationary x-ray system. 892.1680 Section 892.1680 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) MEDICAL DEVICES RADIOLOGY DEVICES Diagnostic Devices § 892.1680 Stationary x-ray system....

  7. Large bimedial rectus recessions in congenital esotropia.

    PubMed Central

    Szmyd, S. M.; Nelson, L. B.; Calhoun, J. H.; Spratt, C.

    1985-01-01

    The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia. PMID:3994944

  8. Public health research in congenital heart disease.

    PubMed

    Lara, Diego A; Lopez, Keila N

    2014-01-01

    Public health research is an integral part of the study of congenital heart disease. While this type of research has become more popular, particularly over the past decade, it has a history that stretches back to almost the beginnings of pediatric cardiology as a field. This review aims to introduce the concepts and methodologies of public health and how they relate to congenital heart disease, describe some of the challenges of traditional research methods in congenital heart disease, describe the history of public health research, and demonstrate the relevance of public health research, particularly databases, to pediatric cardiology fellows.

  9. High hyperopia in Leber's congenital amaurosis.

    PubMed

    Wagner, R S; Caputo, A R; Nelson, L B; Zanoni, D

    1985-10-01

    Few studies comment on the type of refractive errors found in patients with Leber's congenital amaurosis. The association of an uncomplicated infantile form of this condition with high hyperopia but without systemic complications has been suggested. In a retrospective study, we identified 11 patients who satisfied the criteria for the diagnosis of this subtype of Leber's congenital amaurosis. All of our cases were found to have at least +6.00 diopters of hyperopia on cycloplegic refraction. No systemic abnormalities were found in any of these children. We suggest that high hyperopia be included in the diagnostic criteria of this specific form of Leber's congenital amaurosis.

  10. Hyperopia in complicated Leber's congenital amaurosis.

    PubMed

    Dagi, L R; Leys, M J; Hansen, R M; Fulton, A B

    1990-05-01

    We studied the refractive status of 13 children with Leber's congenital amaurosis. Seven had the disease complicated by neurological or other systemic abnormalities, while the other 6 patients had only ophthalmic abnormalities. All 13 patients were hyperopic. The magnitude of hyperopia did not differ significantly between the complicated and uncomplicated groups. Therefore, one cannot, as previously suggested, use the presence of high hyperopia to differentiate an uncomplicated form of Leber's congenital amaurosis from one complicated by neurologic or other systemic abnormalities. The concurrence of hyperopia with Leber's congenital amaurosis should not steer the physician away from careful neurologic systemic or biochemical evaluation of the child.

  11. [Congenital hepatic fibrosis: apropos of 12 cases].

    PubMed

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C

    1988-02-01

    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  12. Unilateral straight hair and congenital horner syndrome.

    PubMed

    Wang, Frederick M; Wertenbaker, Christian; Cho, Hyung; Marmor, Maury A; Ahn-Lee, Sandra S; Bernard, Bruno A

    2012-06-01

    Congenital Horner syndrome is a rare disorder that accounts for less than 5% of all cases of Horner syndrome. Like Horner syndrome in general, it consists primarily of ptosis, miosis, and anhidrosis. Congenital Horner syndrome may manifest some special features such as iris heterochromia since the sympathetic nervous system is an essential component for the development and maintenance of eye color. We present 3 cases of unilateral straight hair in association with congenital Horner syndrome in which the patients had straight hair ipsilateral to the Horner syndrome, whereas on the contralateral side, it was curly, and we discuss possible mechanisms for this phenomenon.

  13. Postural deformities in congenital nephrotic syndrome.

    PubMed Central

    Morgan, G; Postlethwaite, R J; Lendon, M; Houston, I B; Savage, J M

    1981-01-01

    Six successive cases of congenital nephrotic syndrome are described. Each one showed flexion deformities of the knees and hips, widely open anterior and posterior fontanelles, and wide separation of the skull sutures. These abnormalities were present not only in cases in which the renal histology was of the microcystic Finnish type of congenital nephrotic syndrome, but also in those in which the histological picture was one of the variants associated with congenital nephrotic syndrome. It is suggested that such abnormalities are postural deformities, possibly produced by the large placenta. Images Fig. 1 Fig. 2 PMID:7332344

  14. Congenital onychoheterotopia involving multiple toe nails.

    PubMed

    Yadav, Savita; Khullar, Geeti; Dogra, Sunil

    2013-01-01

    Onychoheterotopia is an uncommon condition in which nail tissue is found beyond the common nail unit of the digits of the hands and feet, most often on the fifth digit of the hand. It represents an extra and independent nail that can be present either congenitally, or more commonly, acquired following trauma. The exact pathogenesis of the congenital type is undetermined. We report a 25-year-old male with multiple congenital ectopic nails of the toes since birth, which has not been reported before.

  15. Congenital anomalies surveillance in Canada.

    PubMed

    Lowry, R Brian

    2008-01-01

    Congenital anomalies (CA) are present in approximately 3% of all newborn babies and account for about 12% of paediatric hospital admissions. They represent an important public health problem. Surveillance is especially important so that preventive measures such as folic acid fortification can be properly assessed without resorting to a series of ad hoc studies. Canada's surveillance of CAs is weak, with only Alberta and British Columbia having established sytems. Most provinces have perinatal systems but their CA data are incomplete and they do not capture terminations of pregnancy. The same is true of the Public Health Agency of Canada's system. A new system, the Fetal Alert Network, has been proposed for Ontario, which represents a start but will require additional sources of ascertainment if it is to be a truly population-based system for Ontario.

  16. Congenital dental disease of horses.

    PubMed

    DeBowes, R M; Gaughan, E M

    1998-08-01

    Equine congenital dental deformities are not limited merely to those presented here; however, the examples discussed offer the reader an appreciation for the range of severity and complexity that may be found in affected horses. The veterinarian is obligated to provide the best possible care for the patient and to relieve animal suffering. The lack of definitive evidence for heritability of many of these defects can place the veterinarian in an untenable position, particularly when presented with literature that proclaims or suggests without evidence that a particular condition is inherited. In such cases, the veterinarian is encouraged to counsel owners, citing substantiated medical information, and to recommend that owners make the decision to eliminate the affected animals' ability to reproduce.

  17. X-linked congenital retinoschisis.

    PubMed

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

    1990-01-01

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

  18. Nuclear and cell division in Bacillus subtilis: dormant nucleoids in stationary-phase cells and their activation.

    PubMed Central

    Van Iterson, W; Michels, P A; Vyth-Dreese, F; Aten, J A

    1975-01-01

    The morphology of nucleoids and mesosomes of Bacillus subtilis in stationary-and lag-phase cultures was studied by making three-dimensional cell reconstructions in plastic of electron micrographs of serial sections. In cells from stationary cultures, the dormant nucleoids are frequently, but not always, spherical and the mesosomes are small and compact. It is suggested that the spherical nucleoids represent the resting stage in which replication and segregation have been completed. In cells from lag-phase cultures, the compact mesosomes develop into an elaborate system of tubes and wider sacs which become wrapped around the elongating nucleoids and invade the nucleoplasm in preparation for division. Images PMID:803960

  19. An Algebraic Construction of the First Integrals of the Stationary KdV Hierarchy

    NASA Astrophysics Data System (ADS)

    Matsushima, Masatomo; Ohmiya, Mayumi

    2009-09-01

    The stationary KdV hierarchy is constructed using a kind of recursion operator called Λ-operator. The notion of the maximal solution of the n-th stationary KdV equation is introduced. Using this maximal solution, a specific differential polynomial with the auxiliary spectral parameter called the spectral M-function is constructed as the quadratic form of the fundamental system of the eigenvalue problem for the 2-nd order linear ordinary differential equation which is related to the linearizing operator of the hierarchy. By calculating a perfect square condition of the quadratic form by an elementary algebraic method, the complete set of first integrals of this hierarchy is constructed.

  20. [Congenital bone marrow failure syndromes. The last 20 years by the example of congenital neutropenia].

    PubMed

    Zeidler, C; Welte, K

    2007-12-01

    Congenital bone marrow failure syndromes are rare diseases characterised by a reduction of mature blood cells (erythrocytes, platelets, neutrophils). Examples of such disorders include congenital aplastic anemia (Fanconi anemia), congenital hypoplastic anemia (Diamond-Blackfan anemia), congenital neutropenias (Kostmann syndrome, cyclic neutropenia, Shwachman-Diamond syndrome and others), and congenital thrombocytopenias (TAR syndrome, amegacaryocytic thrombocytopenia). In Germany the prevalence of congenital bone marrow failure syndromes can be estimated to be 10/1,000,000 children and adolescents. Although rare, these diseases contributed significantly to the current knowledge on normal haematopoiesis. The documentation of rare diseases by patient registries and the cooperation of clinical centres within networks are most important for the resolution of such disorders. In the following, congenital neutropenia will be presented as an example: Until the 1980s congenital neutropenia could only be classified clinically. Few cases had been reported in the literature. All subtypes were therefore collected under the general term "congenital neutropenia". The establishment of an international network of experts and the long-term documentation of the courses of disease in a common database allowed for statistically workable data in response to therapy, secondary diagnoses and the long-term prognosis. A close cooperation with scientists finally led to the characterisation of genetically different disorders with common pathomechanisms.

  1. Congenital combined deficiency of coagulation factors VII and II in a young adult.

    PubMed

    Dasanu, Constantin A; Natale, Frances O; DeSilva, Hema N

    2010-01-01

    We present herein a case of a young female with congenital combined coagulation factor VII (FVII) and factor II (FII) deficiencies. She was completely asymptomatic and found to have a prolonged prothrombin time during a routine preoperative evaluation. Low levels of plasma FVII and FII in the absence of an inhibitor confirmed the diagnosis in our patient. Congenital combined FVII and FIX deficiency as well as combined FVII and FX deficiency have been previously reported. The congenital combined deficiency of FVII and FII in our patient is exceptional and represents the first such instance in the English literature. Furthermore, we hypothesize that she had not shown any bleeding manifestations because of possible compensation for the missing factors II and VII by enhanced activity of some intrinsic coagulation pathway components or depression of fibrinolysis.

  2. Coincidence of congenital agenesis of left lung and common atrium: a very rare case.

    PubMed

    Nabati, Maryam; Bagheri, Babak; Habibi, Valiolla

    2013-05-01

    Pulmonary agenesis is characterized by undeveloped pulmonary vessels, bronchi as well as lung parenchyma and is a rare congenital anomaly with unknown etiology. It is usually diagnosed during childhood. Nearly, one third of these patients have concomitant congenital heart diseases. While more than 50% of these patients die before the age of 5 years, some other patients may be asymptomatic throughout their life. On the other hand, common atrium, another rare congenital anomaly, is characterized by complete absence of the atrial septum and is usually accompanied by atrioventricular valve malformations. An 18-year-old male presented with concomitant pulmonary agenesis and common atrium and had not undergone surgery due to high risk for mortality.

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

    PubMed Central

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

    2016-01-01

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

  4. The health‐related quality of life of children with congenital cataract: findings of the British Congenital Cataract Study

    PubMed Central

    Chak, Melanie; Rahi, Jugnoo Sangeeta

    2007-01-01

    Background There is increasing emphasis on patient‐based assessment of healthcare outcomes, but evaluation of the impact of ophthalmic disorders on quality of life is undertaken infrequently. Aim To report on the health‐related quality of life (HRQOL) of children with congenital cataract. Methods At least 6 years after diagnosis, 41 children (representative of a national cohort) and their parents completed the child and proxy (parental) versions of PedsQL 4.0, a generic multidimensional paediatric HRQOL instrument, independently. This provided a physical health summary score, a psychosocial health summary score and an overall score (range 0–100, higher scores indicating better HRQOL). Results Questionnaires were completed by 33 parent–child pairs and by 8 parents alone. The mean (SD) total score self‐reported by children was 75.85 (15.56) and that reported by parents was 75.91(16.79). The mean (SD) physical health score self‐reported by children was 80.76 (8.61), which was higher than the psychosocial health score of 72.93 (16.06). There was considerable variation in agreement of scores reported by individual child–parent pairs (the largest difference was 56.3 points). Notably, the PedsQL scores of children with congenital cataract were comparable with those reported for some children with severe systemic diseases such as rheumatological disease and some cancers. Conclusions These findings serve to characterise the significant broader impact of congenital cataract on patients and their families. The PedsQL 4.0 proved to be an acceptable instrument for assessing generic HRQOL, permitting valuable reporting by children and their parents. However, to capture the subjective experience of ophthalmic disease in childhood fully, specific vision‐related quality of life measures for children are needed. PMID:17244652

  5. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    MedlinePlus

    ... Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev. ... healthcare professional . About Genetics Home Reference Site Map Customer Support Selection Criteria for Links USA.gov Copyright ...

  6. Genetics Home Reference: congenital mirror movement disorder

    MedlinePlus

    ... Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements ...

  7. Congenital and Genetic Disease in Domestic Animals

    ERIC Educational Resources Information Center

    Mulvihill, John J.

    1972-01-01

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

  8. Ancient history of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2011-01-01

    Although there are many erudite reports on the history of endocrinology and endocrine disorders, the history of congenital adrenal hyperplasia has not been published. I have tried to review ancient as well as modern history of CAH.

  9. Congenital Insensitivity to Pain (HSNA type IV).

    PubMed

    Millichap, J Gordon

    2015-04-01

    Investigators from New York University, NY, studied 14 patients with congenital insensitivity to pain with anhidrosis (CIPA), compared to 10 patients with chronically deficient sympathetic activity (pure autonomic failure), and 15 normal age-matched controls.

  10. Living with a Congenital Heart Defect

    MedlinePlus

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

  11. Genetics Home Reference: Leber congenital amaurosis

    MedlinePlus

    ... severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), ...

  12. [Congenital toxoplasmosis: severe ocular and neurological complications].

    PubMed

    Hoekstra, Franka; Buzing, Cecile; Sporken, Jan M J; Erasmus, Corry E; van der Flier, Michiel; Semmekrot, Ben A

    2011-01-01

    Two infants with congenital toxoplasmosis are presented. A girl born prematurely was treated postnatally after the mother had received antimicrobial treatment during pregnancy for acute toxoplasmosis. Apart from being small for gestational age, she remained without symptoms and treatment was ceased after 13 months. A 2-month-old boy presented with hydrocephalus and chorioretinitis, consistent with congenital toxoplasmosis. Despite antimicrobial treatment, at 12 months of age he suffered from epilepsy, cerebral palsy and vision impairment. Most infants with congenital toxoplasmosis (2 per 1000 live births in the Netherlands) are asymptomatic at birth. The education of pregnant women is crucial for the prevention of congenital toxoplasmosis. Awareness of antenatal and postnatal presenting signs and symptoms is important for clinicians, because early diagnosis and treatment may minimize sequelae. Untreated, the majority of affected infants will develop chorioretinitis, deafness and/or neurological symptoms.

  13. Genetics Home Reference: autosomal recessive congenital methemoglobinemia

    MedlinePlus

    ... it alters a molecule within these cells called hemoglobin . Hemoglobin carries oxygen to cells and tissues throughout the ... autosomal recessive congenital methemoglobinemia , some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, ...

  14. Five Facts about Congenital Heart Defects

    MedlinePlus

    ... Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir ... Folic Acid : Helping to Ensure a Healthy Pregnancy. ( English or Spanish ) Ten Tips to Prevent Infections during ...

  15. Submacular hemorrhage secondary to congenital toxoplasmosis

    PubMed Central

    Costa, Ana Luiza Fontes de Azevedo; Martins, Thiago Gonçalves dos Santos; Moncada, Francisco Javier Solano; Motta, Mário Martins dos Santos

    2014-01-01

    ABSTRACT We report the case of a patient with congenital toxoplasmosis and submacular hemorrhage caused by a neovascular membrane who underwent an intravitreal injection of C3F8 and bevacizumab, and had a good visual recovery. PMID:24728255

  16. Congenital esophageal stenosis owing to tracheobronchial remnants

    PubMed Central

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

    2013-01-01

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

  17. Genetics Home Reference: congenital hepatic fibrosis

    MedlinePlus

    ... health and development? More about Mutations and Health Inheritance Pattern The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. Most of these disorders are inherited in an ...

  18. Genetics Home Reference: critical congenital heart disease

    MedlinePlus

    ... right ventricle, D-transposition of the great arteries , Ebstein anomaly, hypoplastic left heart syndrome , interrupted aortic arch, ... Testing Registry: Congenital heart disease Genetic Testing Registry: Ebstein's anomaly Genetic Testing Registry: Hypoplastic left heart syndrome ...

  19. Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.

    PubMed

    Roosen, N; De Moor, J

    1984-05-01

    A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

  20. Congenital lung lesions: Postnatal management and outcome.

    PubMed

    Parikh, Dakshesh H; Rasiah, Shree Vishna

    2015-08-01

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

  1. The transformed-stationary approach: a generic and simplified methodology for non-stationary extreme value analysis

    NASA Astrophysics Data System (ADS)

    Mentaschi, Lorenzo; Vousdoukas, Michalis; Voukouvalas, Evangelos; Sartini, Ludovica; Feyen, Luc; Besio, Giovanni; Alfieri, Lorenzo

    2016-09-01

    Statistical approaches to study extreme events require, by definition, long time series of data. In many scientific disciplines, these series are often subject to variations at different temporal scales that affect the frequency and intensity of their extremes. Therefore, the assumption of stationarity is violated and alternative methods to conventional stationary extreme value analysis (EVA) must be adopted. Using the example of environmental variables subject to climate change, in this study we introduce the transformed-stationary (TS) methodology for non-stationary EVA. This approach consists of (i) transforming a non-stationary time series into a stationary one, to which the stationary EVA theory can be applied, and (ii) reverse transforming the result into a non-stationary extreme value distribution. As a transformation, we propose and discuss a simple time-varying normalization of the signal and show that it enables a comprehensive formulation of non-stationary generalized extreme value (GEV) and generalized Pareto distribution (GPD) models with a constant shape parameter. A validation of the methodology is carried out on time series of significant wave height, residual water level, and river discharge, which show varying degrees of long-term and seasonal variability. The results from the proposed approach are comparable with the results from (a) a stationary EVA on quasi-stationary slices of non-stationary series and (b) the established method for non-stationary EVA. However, the proposed technique comes with advantages in both cases. For example, in contrast to (a), the proposed technique uses the whole time horizon of the series for the estimation of the extremes, allowing for a more accurate estimation of large return levels. Furthermore, with respect to (b), it decouples the detection of non-stationary patterns from the fitting of the extreme value distribution. As a result, the steps of the analysis are simplified and intermediate diagnostics are

  2. Model of non-stationary, inhomogeneous turbulence

    DOE PAGES

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

    2016-07-08

    Here, we compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1–35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to longmore » times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.« less

  3. Radiator Study for Stationary Lunar Landers

    NASA Technical Reports Server (NTRS)

    OConnor, Brian; Abel, Elisabeth

    2010-01-01

    This paper provides an overview of a study to identify, select and evaluate potential heat rejection radiators for application to small, low power, stationary lunar landers. While this study supported risk mitigation activities related to the International Lunar Network project, the radiator concepts and performance assessments are applicable to a wide range of lunar lander applications. The radiator concepts identified and evaluated in this study were aimed at providing reliable heat rejection for landers that might be subjected to hot lunar noon conditions at the equator. As a part of the study, a literature search of lunar radiators was performed from which many radiator designs were developed. These designs were compared in a trade study and two of the most promising were used to develop six concepts. These six radiator concepts went through a more detailed thermal analysis using Thermal Desktop. The analysis considered heat rejection capability, and sensitivity to many factors such as dust deposition, latitude, life, and topographical features like landing on a hill, on a rock, or in a hole/crater. From the result of the analysis, two radiator concepts were selected for recommendation: a flat horizontal plate with a dust cover and a stacked vertical radiator with parabolic reflectors and a one degree tilting mechanism.

  4. Model of non-stationary, inhomogeneous turbulence

    SciTech Connect

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

    2016-07-08

    Here, we compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1–35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to long times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.

  5. Model of non-stationary, inhomogeneous turbulence

    NASA Astrophysics Data System (ADS)

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

    2017-02-01

    We compare results from a spectral model for non-stationary, inhomogeneous turbulence (Besnard et al. in Theor Comp Fluid Dyn 8:1-35, 1996) with direct numerical simulation (DNS) data of a shear-free mixing layer (SFML) (Tordella et al. in Phys Rev E 77:016309, 2008). The SFML is used as a test case in which the efficacy of the model closure for the physical-space transport of the fluid velocity field can be tested in a flow with inhomogeneity, without the additional complexity of mean-flow coupling. The model is able to capture certain features of the SFML quite well for intermediate to long times, including the evolution of the mixing-layer width and turbulent kinetic energy. At short-times, and for more sensitive statistics such as the generation of the velocity field anisotropy, the model is less accurate. We propose two possible causes for the discrepancies. The first is the local approximation to the pressure-transport and the second is the a priori spherical averaging used to reduce the dimensionality of the solution space of the model, from wavevector to wavenumber space. DNS data are then used to gauge the relative importance of both possible deficiencies in the model.

  6. Stationary orbits of satellites of disk galaxies

    NASA Technical Reports Server (NTRS)

    Polyachenko, Valerij L.

    1990-01-01

    The satellite of an S-galaxy will experience opposing dynamical-friction forces from the stars of the disk and the halo. If these forces are in balance, the satellite may travel in a stable, near-circular orbit whose radius, for a wide range of physical parameters, should be limited to a zone 1.2 to 1.4 times the disk radius, much as is observed. The idea is very simple. The dynamical friction acting on a small satellite, moving through a stellar galactic halo, makes this satellite slow down. On the other hand, a stellar disk, rotating faster than a satellite, makes it speed up. But the density distributions in radius for disk's and halo's stars in real flat galaxies are quite different (respectively, exponential and power-law). Moreover, the observational data show that the exponential profile for disk's surface density drops abruptly at some radius (r sub d). So it is natural to expect that a stationary orbit could be near the edge of a disk (where two effects are mutually compensated).

  7. Mediastinal bronchogenic cyst mimicking congenital lobar emphysema.

    PubMed

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

    2016-09-08

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

  8. Leber's congenital amaurosis with associated nephronophthisis.

    PubMed

    Roizenblatt, J; Peduti Cunha, L A

    1980-01-01

    The authors present a case of a 15-year-old girl with Leber's congenital amaurosis with associated nephronophthisis. The main findings in this case are: congenital blindness; enophthalmos; photophobia; nystagmus; keratoconus; cataracts; pigmentary degeneration in the fundus of both eyes; progressive uremia with absence of hematuria, proteinuria, pyuria, and glycosuria; low urinary density, normal lipidic profile; osteoporosis; absence of edema; polydipsia; polyuria; and a history of consanguinity between her parents. Tranmission of this entity allows an autosomal recessive pattern.

  9. Screening programme for congenital toxoplasmosis in France.

    PubMed

    Thulliez, P

    1992-01-01

    The high prevalence of Toxoplasma gondii infection in France led to the establishment of a national screening programme. Preventive measures were progressively introduced, and these became compulsory in 1978 with the result that the incidence of congenital toxoplasmosis is now markedly reduced. Further improvements may include more systematic sampling from women before pregnancy, better and adequate health education and centralized notification of both maternal and congenital cases of toxoplasmosis.

  10. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

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

  11. Congenital bilateral sternocleidomastoid contracture: a case report.

    PubMed

    Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin

    2009-05-01

    Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.

  12. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed Central

    Odièvre, M; Pigé, G; Alagille, D

    1977-01-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin. PMID:869567

  13. Congenital abnormalities associated with extrahepatic portal hypertension.

    PubMed

    Odièvre, M; Pigé, G; Alagille, D

    1977-05-01

    Congenital abnormalities were present in 12 out of 30 (40%) children with extrahepatic portal hypertension of unknown cause, but in only 2 out of 17 (12%) children with extnahepatic portal hypertension secondary to umbilical vein catheterization or omphalitis. The most frequent abnormalities in this series and in published reports were atrial septal defect, malformation of the biliary tract, and anomalous inferior vena cava. These findings are consistent with the view that some cases with extrahepatic portal hypertension are congenital in origin.

  14. Congenital Symmastia: A 3-Step Approach

    PubMed Central

    Allam, Atef A.

    2016-01-01

    Summary: Congenital symmastia is a medial confluence of the breasts. It is a rare anomaly with few reports in the literature and no standard treatment. In this article, we present a case of congenital symmastia treated by 3 steps: liposuction, fixation of the skin to the chest wall in the area of the intermammary sulcus, and postoperative intermammary compression. A successful result was achieved with normal cleavage between the breasts. So, this is considered the ideal treatment for this condition.

  15. Thymus transplantation in complete DiGeorge anomaly.

    PubMed

    Markert, M Louise; Devlin, Blythe H; Chinn, Ivan K; McCarthy, Elizabeth A

    2009-01-01

    Complete DiGeorge anomaly is characterized by athymia, congenital heart disease, and hypoparathyroidism. This congenital disease is fatal by age 2 years unless immune reconstitution is successful. There are multiple underlying syndromes associated with complete DiGeorge anomaly including 22q11 hemizygosity in approximately 50%, CHARGE association in approximately 25%, and diabetic embryopathy in approximately 15%. Approximately one-third of patients present with rash and lymphadenopathy associated with oligoclonal "host" T cells. This condition resembles Omenn syndrome. Immunosuppression is necessary to control the oligoclonal T cells. The results of thymus transplantation are reported for a series of 50 patients, of whom 36 survive. The survivors develop naïve T cells and a diverse T cell repertoire.

  16. 76 FR 37953 - Standards of Performance for Stationary Compression Ignition and Spark Ignition Internal...

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-28

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

  17. Optimal Stationary Linear Control of the Wiener Process.

    DTIC Science & Technology

    1980-02-29

    OPTIMAL STATIONARY LINEAR CONTROL OF THE WIENER PROCESS. (U) FES 80 V E BENES. I KARATZAS AFOSR-76-3063 UNCLASSIFIED AFOSR -TR-8O-0338 NL...mElllllllllll mhmmmmmmmmm mmmmmmmr( EFOSR-TR- 2 0-0S8 0 3 OPTIMAL STATIONARY LINEAR CONTROL OF THE WIENER PROCESS by LEVEL CVACLAV E. BENES Bell Telephone...or " DIst. special D U L I. F UNCLASSIFIED _ _ _ , ,_I_ _ _ _ _ _. OPTIMAL STATIONARY LINEAR CONTROL OF TIlE WIENER PROCESS V’aclav E. Benes and

  18. Implicit familiarity processing in congenital prosopagnosia.

    PubMed

    Avidan, Galia; Behrmann, Marlene

    2008-03-01

    A particularly interesting and somewhat puzzling finding in the face-processing literature is that, despite the absence of overt recognition of most faces, many patients with acquired prosopagnosia (AP) exhibit evidence of intact covert face recognition of the very same faces. This phenomenon has important implications for the understanding of the mechanism underlying AP and, by extension, the mechanism underlying normal face processing. Here, we set out to examine whether individuals with congenital prosopagnosia (CP) exhibit a similar dissociation between overt and covert face recognition. We first confirmed that all six of our CP individuals were significantly impaired in face recognition in comparison with controls. Participants then completed a matching task with both famous and unknown faces in which they decided whether two consecutive images have the same identity or not. Critically, the level of face familiarity was orthogonal to the task at hand and this enabled us to examine whether the familiarity of a face enhanced identity matching, a finding which would implicate implicit face processing. As expected, the CP individuals were slower and less accurate than the control participants. More importantly, like the controls, the CP individuals were faster and more accurate at matching famous compared with unknown faces. Also, for both groups, matching performance on unrecognized famous faces fell at an intermediate level between performance on explicitly recognized famous faces and faces which are unknown. These results provide the first solid evidence for the existence of implicit familiarity processing in CP and suggest that, despite the marked impairment in explicit face recognition, these individuals still have some familiarity representation which manifests in the form of covert recognition. We discuss possible models to account for the apparent dissociation of overt and covert face processing in CPR.

  19. Microtia and congenital aural atresia.

    PubMed

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin

    2012-11-01

    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  20. Congenital abnormalities of the goat.

    PubMed

    Basrur, P K

    1993-03-01

    Congenital abnormalities of genetic and environmental causes constitute a striking proportion of the afflictions seen in goats. These include a variety of malformations and metabolic diseases that could occur in all breeds but tend to exhibit predisposition in some breeds of goats. Genetic abnormalities for which the carrier state is detectable with the aid of enzymes and surface protein markers can be eliminated from goat populations, whereas common polygenic disorders including udder problems in does and gynecomastia in bucks are more difficult to eradicate because the mutant genes responsible for these traits generally do not declare themselves until inbreeding brings together a critical concentration of liability genes to create a crisis. A substantial reduction of common abnormalities in this species, such as intersexuality in dairy breeds, abortion in Angora breed, and arthritis in the Pygmy breed, will require a change in breeders' preference and selection practice. In making these changes, however, the beneficial traits will have to be balanced against the undesirable effects of the selected mutant genes (pleiotropy), which hold the key to success or failure of a breed under domestication.

  1. [Congenital muscular dystrophies in children].

    PubMed

    Scavone-Mauro, Cristina; Barros, Graciela

    2013-09-06

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

  2. Bootstrap approaches and confidence intervals for stationary and non-stationary long-range dependence processes

    NASA Astrophysics Data System (ADS)

    Franco, Glaura C.; Reisen, Valderio A.

    2007-03-01

    This paper deals with different bootstrap approaches and bootstrap confidence intervals in the fractionally autoregressive moving average (ARFIMA(p,d,q)) process [J. Hosking, Fractional differencing, Biometrika 68(1) (1981) 165-175] using parametric and semi-parametric estimation techniques for the memory parameter d. The bootstrap procedures considered are: the classical bootstrap in the residuals of the fitted model [B. Efron, R. Tibshirani, An Introduction to the Bootstrap, Chapman and Hall, New York, 1993], the bootstrap in the spectral density function [E. Paparoditis, D.N Politis, The local bootstrap for periodogram statistics. J. Time Ser. Anal. 20(2) (1999) 193-222], the bootstrap in the residuals resulting from the regression equation of the semi-parametric estimators [G.C Franco, V.A Reisen, Bootstrap techniques in semiparametric estimation methods for ARFIMA models: a comparison study, Comput. Statist. 19 (2004) 243-259] and the Sieve bootstrap [P. Bühlmann, Sieve bootstrap for time series, Bernoulli 3 (1997) 123-148]. The performance of these procedures and confidence intervals for d in the stationary and non-stationary ranges are empirically obtained through Monte Carlo experiments. The bootstrap confidence intervals here proposed are alternative procedures with some accuracy to obtain confidence intervals for d.

  3. Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies.

    PubMed

    Loane, Maria; Dolk, Helen; Garne, Ester; Greenlees, Ruth

    2011-03-01

    The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for fetal anomaly. EUROCAT's policy is to strive for high-quality data, while ensuring consistency and transparency across all member registries. A set of 30 data quality indicators (DQIs) was developed to assess five key elements of data quality: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. This article describes each of the individual DQIs and presents the output for each registry as well as the EUROCAT (unweighted) average, for 29 full member registries for 2004-2008. This information is also available on the EUROCAT website for previous years. The EUROCAT DQIs allow registries to evaluate their performance in relation to other registries and allows appropriate interpretations to be made of the data collected. The DQIs provide direction for improving data collection and ascertainment, and they allow annual assessment for monitoring continuous improvement. The DQI are constantly reviewed and refined to best document registry procedures and processes regarding data collection, to ensure appropriateness of DQI, and to ensure transparency so that the data collected can make a substantial and useful contribution to epidemiologic research on congenital anomalies.

  4. Congenital malaria in Urabá, Colombia

    PubMed Central

    2011-01-01

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

  5. Congenital tumors of the central nervous system.

    PubMed

    Severino, Mariasavina; Schwartz, Erin S; Thurnher, Majda M; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-06-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into "definitely congenital" (present or producing symptoms at birth), "probably congenital" (present or producing symptoms within the first week of life), and "possibly congenital" (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival.

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

    NASA Astrophysics Data System (ADS)

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

    2016-05-01

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

  7. Stationary solutions for conservation laws with singular nonlocal sources

    NASA Astrophysics Data System (ADS)

    Coclite, Giuseppe Maria; Coclite, Mario Michele

    The existence of an a.e. positive stationary solution with bounded variation in [0,1] for an integro-differential conservation law with source depending on a function singular in the origin is proved.

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

    NASA Astrophysics Data System (ADS)

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

    2011-09-01

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

  9. Decay of stationary light pulses in ultracold atoms

    SciTech Connect

    Wu Jinhui; Artoni, M.; La Rocca, G. C.

    2010-03-15

    We develop a general scheme for studying the optical response of ultracold atoms driven into a regime of standing-wave electromagnetically induced transparency. We rely on full numerical solutions of the Maxwell-Liouville equations without invoking secular and adiabatic approximations and arbitrary initial state assumptions. These approximations and assumptions can conceal, e.g., significant loss and diffusion responsible for the decay of stationary light pulses in cold atomic samples. The complex decay dynamics of a stationary light pulse is here analyzed in terms of higher-order spin and optical coherences that arise from nonlinear interactions of the stationary light pulse with the two counterpropagating components of a standing-wave driving field. Specific results for stationary light pulses in cold {sup 87}Rb atoms have been discussed for temperature regimes where the residual Doppler broadening is negligible.

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

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

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

  11. Hydrothermal carbonaceous sphere based stationary phase for anion exchange chromatography.

    PubMed

    Zhao, Qiming; Wu, Shuchao; Zhang, Peimin; Zhu, Yan

    2017-01-15

    Monodisperse carbonaceous spheres produced by the hydrothermal carbonization of sucrose were first applied as green stationary phase for ion chromatography after quaternization. Depending on the polycondensation of methylamine and 1,4-butanediol diglycidyl ether, polymer containing quaternary ammonium groups were facilely grafted onto the surfaces of hydrothermal carbonaceous spheres (HCSs). The quaternized HCSs with different number of polyelectrolyte layers were characterized by scanning electron microscopy, brunauer-emmett-teller, fourier transform infrared spectroscopy, X-ray photoelectron spectroscopy, thermogravimetric analysis and elemental analysis. The measurements of breakthrough curves demonstrated that more layers of grafted polyelectrolyte resulted in higher anion exchange capacity of stationary phase. With good stability, common inorganic anions, monocarboxylic acids, polarizable anions and carbohydrates were effectively separated on the stationary phases, respectively. The high hydrophilicity of HCS surface afforded excellent peak symmetry for all analytes. Furthermore, high-capacity HCSs stationary phase was successfully applied to detect fluoride in tea samples.

  12. Amodal Completion in Bonobos

    ERIC Educational Resources Information Center

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

    2010-01-01

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

  13. Stability of erythrocyte suspensions layered on stationary and flowing liquids

    NASA Technical Reports Server (NTRS)

    Omenyi, S. N.; Rhodes, P. H.; Snyder, R. S.

    1982-01-01

    The apparent stability of erythrocyte suspensions layered on stationary and flowing Ficoll solutions was studied considering the effects of particle concentration, type and size, and the different flow rates of the particle suspensions and chamber liquid. The data from the flowing system were empirically fitted and, when extrapolated to zero chamber liquid flow rate, gave values comparable to the data from the stationary system, thus confirming the validity of the data and our approach to obtain that data.

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

    DOEpatents

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

    2008-05-20

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

  15. Stationary transmission distribution of random spike trains by dynamical synapses

    NASA Astrophysics Data System (ADS)

    Hahnloser, Richard H.

    2003-02-01

    Many nonlinearities in neural media are strongly dependent on spike timing jitter and intrinsic dynamics of synaptic transmission. Here we are interested in the stationary density of evoked postsynaptic potentials transmitted by depressing synapses for Poisson spike trains of fixed mean rates. We present a nonperturbative iterative method for computing the stationary density over increasing intervals. We conclude by showing how this method generalizes to other types of synapses, such as facilitating and hybrid synapses.

  16. Quasi-stationary distributions for models of heterogeneous catalysis

    NASA Astrophysics Data System (ADS)

    de Oliveira, Marcelo M.; Dickman, Ronald

    2004-11-01

    We construct the quasi-stationary (QS) distribution for two models of heterogeneous catalysis having two absorbing states: the ZGB model for the oxidation of CO, and a version with noninstantaneous reactions. Using a mean-field-like approximation, we study the quasi-stationary surface coverages, moment ratios and the lifetime of the QS state. We also derive an improved, consistent one-site mean-field theory for the ZGB model.

  17. Continually Plastic Modeling of Non-Stationary Systems

    DTIC Science & Technology

    2016-09-01

    further explore more efficient ways for the selection process at each stage and to ex- tend the algorithm to model more general systems that exhibit...AFRL-RY-WP-TR-2016-0168 CONTINUALLY PLASTIC MODELING OF NON- STATIONARY SYSTEMS Josh Bongard and Chris Danforth University of...To) September 2016 Final 27 September 2011 – 27 June 2016 4. TITLE AND SUBTITLE CONTINUALLY PLASTIC MODELING OF NON-STATIONARY SYSTEMS 5a. CONTRACT

  18. Stationary density matrix of a pumped polariton system.

    PubMed

    Vera, Carlos Andrés; Cabo, Alejandro; González, Augusto

    2009-03-27

    The density matrix rho of a model polariton system is obtained numerically from a master equation which takes account of pumping and losses. In the stationary limit, the coherences between eigenstates of the Hamiltonian are 3 orders of magnitude smaller than the occupations, meaning that the stationary density matrix is approximately diagonal in the energy representation. A weakly distorted grand canonical Gibbs distribution fits well the occupations.

  19. Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness.

    PubMed

    Bradshaw, Keith; Newman, Douglas; Allen, Louise; Moore, Anthony

    2003-09-01

    STRs and dark-adapted ERGs were recorded in nine normal subjects, nine patients with XLRS, 11 patients with CSNB1 and one patient with CSNB2. In XLRS STR amplitude was significantly lower than normal at every intensity, but the response could be recorded in every patient and the maximum amplitude response was outside the 95% confidence limits in only four of the nine patients. STRs were significantly poorer in patients with CSNB and a responses was not measurable at any intensity in nine of the 11 patients with CSNB1. In both CSNB and XLRS the STR could only be recorded at higher stimulus intensities, suggesting reduced sensitivity of the STR. In XLRS onset and peak latencies were also significantly prolonged and the slope of the intensity-response functions for amplitude and onset latency differed significantly from normal. Maximum STR amplitude did not correlate with the maximum dark-adapted ERG response. The finding of abnormal STRs and dark adapted ERGs in all three dystrophies indicates that the different causative genes must have similar effects on the rod On-bipolar cell pathway. But there were also differences between the three clinical groups, particularly in the greater severity of the abnormality in CSNB1, which suggests that there may be multiple sites of abnormality.

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

    PubMed

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

    2016-07-01

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

  1. Multiple pathways regulate minisatellite stability during stationary phase in yeast.

    PubMed

    Kelly, Maire K; Brosnan, Laura; Jauert, Peter A; Dunham, Maitreya J; Kirkpatrick, David T

    2012-10-01

    Alterations in minisatellite DNA repeat tracts in humans have been correlated with a number of serious disorders, including cancer. Despite their importance for human health, the genetic factors that influence minisatellite stability are not well understood. Previously, we identified mutations in the Saccharomyces cerevisiae zinc homeostasis genes ZRT1 and ZAP1 that significantly increase the frequency of minisatellite alteration specifically during stationary phase. In this work, we identified mutants of END3, PKC1, and RAD27 that increase minisatellite instability during stationary phase. Genetic analysis reveals that these genes, along with ZRT1 and ZAP1, comprise multiple pathways regulating minisatellite stability during stationary phase. Minisatellite alterations generated by perturbation of any of these pathways occur via homologous recombination. We present evidence that suggests formation of ssDNA or ssDNA breaks may play a primary role in stationary phase instability. Finally, we examined the roles of these pathways in the stability of a human minisatellite tract associated with the HRAS1 oncogene and found that loss of RAD27, but not END3 or PKC1, destabilizes the HRAS1 minisatellite in stationary phase yeast. This result indicates that the genetic control of stationary phase minisatellite stability is dependent on the sequence composition of the minisatellite itself.

  2. Influence of Stationary Crossflow Modulation on Secondary Instability

    NASA Technical Reports Server (NTRS)

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

    2016-01-01

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

  3. Prevention and avoidance of congenital malformations.

    PubMed

    Nevin, N C

    1988-06-15

    Many congenital abnormalities do not have either a Mendelian pattern of inheritance or an identifiable chromosome abnormality and are described as 'multifactorial' as it is assumed they are determined by several genes, each with added effects and modified to a greater or lesser extent by environmental factors. They include spina bifida and anencephaly, cleft lip or cleft palate or both, congenital heart defect and congenital dislocation of the hip, and they constitute a major community health problem. Developments in genetics, biochemistry and cytogenetics have presented new approaches to the prevention and avoidance of congenital abnormalities. The approaches available for the avoidance of congenital malformations include the avoidance of harmful environmental factors, the screening of the newborn and early treatment, genetic counselling and antenatal monitoring with selective termination. The prevention of neural-tube defects in 'high risk' mothers can be achieved by periconceptional vitamin supplementation. In Northern Ireland, of 438 fully supplemented women, only 4 (0.98%) infants or fetuses among 407 infants and fetuses examined had a neural-tube defect, whereas of 356 unsupplemented women, 16 (4.7%) infants or fetuses among 337 infants or fetuses examined had a neural-tube defect.

  4. Congenital lacrimal fistula: A major review.

    PubMed

    Chaung, Jia Quan; Sundar, Gangadhara; Ali, Mohammad Javed

    2016-08-01

    The purpose of this article is to review and summarize the etiopathogenesis, symptomatology, systemic associations, management, complications and clinical outcomes of congenital lacrimal fistulae. The authors performed an electronic database (PubMed, MEDLINE, EMBASE and Cochrane Library) search of all articles published in English on congenital lacrimal fistulae. Congenital subsets of patients from series of mixed lacrimal fistulae were included in the review. These articles were reviewed along with their relevant cross-references. Data reviewed included demographics, presentations, investigations, management, complications and outcomes. The prevalence of congenital lacrimal fistulae is reported to be around 1 in 2000 live births. They are frequently unilateral, although familial cases tend to be bilateral. Lacrimal and systemic anomalies have been associated with lacrimal fistulae. Exact etiopathogenesis is unknown but mostly believed to be an accessory out budding from the lacrimal drainage system during embryogenesis. Treatment is indicated when significant epiphora or discharge is present and is mostly achieved by various fistulectomy techniques with or without a dacryocystorhinostomy. Congenital lacrimal fistulae are a distinct clinical entity with unique features. Surgical management can be challenging and successful outcomes are usually achieved with widely accepted protocols.

  5. Congenital basis of posterior fossa anomalies

    PubMed Central

    Cotes, Claudia; Bonfante, Eliana; Lazor, Jillian; Jadhav, Siddharth; Caldas, Maria; Swischuk, Leonard

    2015-01-01

    The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies. PMID:26246090

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

    PubMed

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

    2010-01-01

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

  7. Congenital scoliosis: an up-to-date

    PubMed Central

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, RA; Dughilă, C; Japie, EM; Onilă, A

    2015-01-01

    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon PMID:26351546

  8. Molecular Pathophysiology of Congenital Long QT Syndrome.

    PubMed

    Bohnen, M S; Peng, G; Robey, S H; Terrenoire, C; Iyer, V; Sampson, K J; Kass, R S

    2017-01-01

    Ion channels represent the molecular entities that give rise to the cardiac action potential, the fundamental cellular electrical event in the heart. The concerted function of these channels leads to normal cyclical excitation and resultant contraction of cardiac muscle. Research into cardiac ion channel regulation and mutations that underlie disease pathogenesis has greatly enhanced our knowledge of the causes and clinical management of cardiac arrhythmia. Here we review the molecular determinants, pathogenesis, and pharmacology of congenital Long QT Syndrome. We examine mechanisms of dysfunction associated with three critical cardiac currents that comprise the majority of congenital Long QT Syndrome cases: 1) IKs, the slow delayed rectifier current; 2) IKr, the rapid delayed rectifier current; and 3) INa, the voltage-dependent sodium current. Less common subtypes of congenital Long QT Syndrome affect other cardiac ionic currents that contribute to the dynamic nature of cardiac electrophysiology. Through the study of mutations that cause congenital Long QT Syndrome, the scientific community has advanced understanding of ion channel structure-function relationships, physiology, and pharmacological response to clinically employed and experimental pharmacological agents. Our understanding of congenital Long QT Syndrome continues to evolve rapidly and with great benefits: genotype-driven clinical management of the disease has improved patient care as precision medicine becomes even more a reality.

  9. Stationary microfluidics: molecular diagnostic assays by moving magnetic beads through non-moving liquids

    NASA Astrophysics Data System (ADS)

    Becker, Holger; Carstens, Cornelia; Kuhlmeier, Dirk; Sandetskaya, Natalia; Schröter, Nicole; Zilch, Christian; Gärtner, Claudia

    2013-03-01

    Commonly, microfluidic devices are based on the movement of fluids. For molecular diagnostics assays which often include steps like PCR, this practically always involves a more or less complicated set of external pumps, valves and liquid controls. In the presented paper, we follow a different approach in which the fluid after sample introduction remains stationary and the main bioactive sample molecules are moved through a chain of reaction compartments which contain the different reagents necessary for the assay. The big advantage of this concept is the lack of any external fluid actuation/control. Results on sample carry-over experiments and complete assays will be given.

  10. Grip forces exerted against stationary held objects during gravity changes.

    PubMed

    Hermsdörfer, J; Marquardt, C; Philipp, J; Zierdt, A; Nowak, D; Glasauer, S; Mai, N

    1999-05-01

    In the present study, grip forces exerted against a stationary held object were recorded during parabolic flights. Such flight maneuvers induce changes of gravity with two periods of hypergravity, associated with a doubling of normal terrestrial gravity, and a 20 s period of microgravity. Accordingly, the object's weight changed from being twice as heavy as normally experienced and weightless. Grip-force recordings demonstrated that force control was seriously disturbed only during the first experience of hyper- and microgravity, with the grip forces being exceedingly high and yielding irregular fluctuations. Thereafter, however, grip force traces were smooth, the force level was scaled to the object's weight under normal and high-G conditions, and the grip force changed in parallel with the weight during the transitions between hyper- and microgravity. In addition, during weightlessness, when virtually no force was necessary to stabilize the object, a low force was established, which obviously represented a reasonable safety margin for preventing possible perturbations. Thus, all relevant aspects of grip-force control observed under normal gravity conditions were preserved during gravity changes induced by parabolic flights. Hence, grip-force control mechanisms were able to cope with hyper- and microgravity, either by incorporating relevant receptor signals, such as those originating from cutaneous mechanoreceptors, or by adequately including perceived gravity signals into control programs. However, the adaptation to the uncommon gravity conditions was not complete following the first experience; finer tuning of the control system to both hyper- and microgravity continued over the measurement interval, presumably with a longer observation period being necessary before a stable performance can be reached.

  11. Arrangements of Hepatobiliary Cystadenoma Complicated With Congenital Choledochal Cyst

    PubMed Central

    Li, En-Liang; Shi, Shi-Dai; Huang, Yong; Wu, Lin-Quan

    2015-01-01

    Abstract Hepatobiliary cystadenoma complication with congenital choledochal cyst is extremely rare and has never been reported in literatures so far. The aim of the study was to investigate the disease arrangements by analyzing the case and performing a systematic review of the literature. This case report documents the details and clear patterns of the patient. A 65-year-old woman with fever (39.2°C), nausea, vomiting, and chronic hepatitis B imaging demonstrated a left hepatic multilocular cystic mass and cystic dilated common bile duct. A regular left hemihepatectomy was performed with resection of the entire tumor and choledochal cyst. The surgical margins were negative and a final diagnosis of hepatobiliary cystadenoma complicated with congenital choledochal cyst was established. The patient had an uneventful postoperative recovery and liver function returned to normal levels. Main lessons learned from this case are: the awareness should be raised about the disease to avoid misdiagnosis; preoperative ultrasonography, computed tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography play an important role in detecting the lesion; the scope and timing of the surgery should be determined, which provide the chance of cure to complete resection of the tumor. PMID:25621685

  12. CONGENITAL ANOMALIES OF THE LIMBS: II. PSYCHOLOGICAL AND EDUCATIONAL ASPECTS.

    PubMed

    GINGRAS, G; MONGEAU, M; MOREAULT, P; DUPUIS, M; HEBERT, B; CORRIVEAU, C

    1964-07-18

    As a preparatory step towards the development of a complete habilitation program for children with congenital limb anomalies associated with maternal ingestion of thalidomide, the medical records of all patients with congenital limb anomalies referred to the Rehabilitation Institute of Montreal in the past decade were studied, and an examination and a thorough reassessment were made of 41 patients (21 males and 20 females). The medical and prosthetic aspects were dealt with in Part I of this paper. Part II describes, in a joint report, the results of psychiatric, psychological and educational assessments.There was no evidence of major emotional disorder in any of the patients, although conflicts were intensified by the presence of the physical anomaly. No relation was found between intelligence, emotional adjustment and disability. The patient's attitude towards his disability and prosthesis is definitely influenced by the degree of parental acceptance of the handicap and by the character of the emotional undertones in the total environment. In order to favour the occurrence of the healthiest modes of development in these children, the authors believe that the medical profession should be made fully aware of the physical and emotional problems which may arise after the birth of a deformed child. It is considered very important that the mother should receive psychotherapeutic support as soon as possible after the child is born.

  13. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-01-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0.08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109 degrees in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of delta6 degrees, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25 Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  14. Treatment of congenital aniridia associated with subluxated infantile cataract.

    PubMed

    Jusufovic, Vahid; Cabric, Emir; Popovic-Beganovic, Allen; Musanovic, Zlatko; Zvornicanin, Jasmin

    2014-06-01

    A 5 year old boy was presented at Eye clinic University clinical center Tuzla with congenital aniridia in both eyes. Clinical examination revealed visual acuity of 0,08 without correction in right and 0.7 with -5.0 Dsph and -1.0 Dcyl Axx 109° in left eye. Opthalmologic examination showed bilateral aniridia associated with moderate cataract in the right and incipient cataract in the left eye. In the right eye, zonular weakness with incipient capsular displacement and esotropia of Δ6º, were noted. The patient underwent phacoemulsification, implantation of capsular tension ring and Artificial Iris implant in the capsular bag. Phacoemulsification went uneventful and early postoperative recovery was successful with no signs of aniridia-associated keratopathy development and normal values of intra ocular pressure. Patient was not motivated for operation of the left eye and it was corrected with soft contact lens. Six month after the operation visual acuity in the right eye improved to 0.9 with +1.25Dsph and maintained stable in left eye, with complete elimination of esotropia and signs of binocular vision restoration. Small incision cataract extraction with IOL and Artificial Iris implantation in one procedure can be used to correct congenital aniridia and cataract with significant visual function improvement.

  15. Interventional embolization therapy of puerile congenital deep femoral arteriovenous fistula

    PubMed Central

    ZHANG, JING; TAN, XIAO-YUN; ZHOU, SHAO-YI; CHEN, KUN-SHAN; LI, HAI-BO; CHUANQIANG-NIU; JIANG, YI-ZHOU; LIN, QUE-QING

    2013-01-01

    This study aimed to investigate the treatment efficiency of interventional embolization therapy in puerile congenital deep femoral arteriovenous fistula. A retrospective analysis was conducted for 9 cases of congenital deep femoral arteriovenous fistulae treated in our department in the past 5 years. B-ultrasound examination indicated that all puerile patients suffered from deep femoral arteriovenous fistulae, which was confirmed by angiography examination. For all patients, endovascular interventional embolization therapy was conducted and angiography re-examination was implemented after 4 weeks. If there were residual orificium fistulae, the interventional embolization therapy was conducted again. In the 6 month to 2 year follow-up period, improvement of clinical symptoms was observed. Following interventional embolization, 9 cases of deep femoral arteriovenous fistulae were completely occluded and the clinical symptoms were improved. No relapses occurred. In addition, after three embolization treatments, the disease condition of one case was controlled well and the disease condition did not progress. Interventional embolization therapy has a number of advantages, including simple surgery and reliable treatment efficacy. Therefore, it is worthy of promotion and application in the clinic. PMID:23407852

  16. Handicapping Conditions Associated with the Congenital Rubella Syndrome.

    ERIC Educational Resources Information Center

    Vernon, McCay; And Others

    1980-01-01

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

  17. Precalcaneal congenital fibrolipomatous hamartomas: report of occurrence in half brothers.

    PubMed

    Fangman, William L; Prose, Neil S

    2004-01-01

    Precalcaneal congenital fibrolipomatous hamartomas are uncommon, congenital, nontender papules located on the medial plantar aspects of the heel. We report the occurrence of this rare disorder in two half brothers, suggesting that it may occur in a familial pattern.

  18. Frequently Asked Questions about Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

  19. Psychological Challenges Associated with Congenital Melanocytic Nevus (CMN)

    MedlinePlus

    ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ... Now Open Conference Schedule Highlights Fundraiser Advice Holiday Shopping at Amazon Happy In My Skin Congenital Nevus ...

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

    MedlinePlus

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

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

    MedlinePlus

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

  2. Cytogenomic Aberrations in Congenital Cardiovascular Malformations

    PubMed Central

    Azamian, Mahshid; Lalani, Seema R.

    2016-01-01

    Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades. PMID:27385961

  3. Congenital narrowing of the cervical spinal canal.

    PubMed Central

    Kessler, J T

    1975-01-01

    The clinical and laboratory findings in six patients with congenital narrowing of the cervical spinal canal and neurological symptoms are described. A variable age of onset and an entirely male occurrence were found. Signs and symptoms of spinal cord dysfunction predominated in all but one patient. Symptoms were produced in five patients by increased physical activity alone. Congenital narrowing of the cervical spinal canal may result in cord compression without a history of injury and occasionally without evidence of significant bony degenerative changes. The clinical features may be distinguishable from those found in cervical spondylosis without congenital narrowing. Intermittent claudication of the cervical spinal cord appears to be an important feature of this syndrome. Surgery improved four out of five people. PMID:1219087

  4. New Genetic Insights into Congenital Heart Disease

    PubMed Central

    Ware, Stephanie M.; Jefferies, John Lynn

    2012-01-01

    There has been remarkable progress in understanding the genetic basis of cardiovascular malformations. Chromosome microarray analysis has provided a new tool to understand the genetic basis of syndromic cardiovascular malformations resulting from microdeletion or microduplication of genetic material, allowing the delineation of new syndromes. Improvements in sequencing technology have led to increasingly comprehensive testing for aortopathy, cardiomyopathy, single gene syndromic disorders, and Mendelian-inherited congenital heart disease. Understanding the genetic etiology for these disorders has improved their clinical recognition and management and led to new guidelines for treatment and family-based diagnosis and surveillance. These new discoveries have also expanded our understanding of the contribution of genetic variation, susceptibility alleles, and epigenetics to isolated congenital heart disease. This review summarizes the current understanding of the genetic basis of syndromic and non-syndromic congenital heart disease and highlights new diagnostic and management recommendations. PMID:22822471

  5. Deprivation amblyopia and congenital hereditary cataract.

    PubMed

    Mansouri, Behzad; Stacy, Rebecca C; Kruger, Joshua; Cestari, Dean M

    2013-01-01

    Amblyopia is a neurodevelopmental disorder of vision associated with decreased visual acuity, poor or absent stereopsis, and suppression of information from one eye.(1,2) Amblyopia may be caused by strabismus (strabismic amblyopia), refractive error (anisometropic amblyopia), or deprivation from obstructed vision (deprivation amblyopia). 1 In the developed world, amblyopia is the most common cause of childhood visual impairment, 3 which reduces quality of life 4 and also almost doubles the lifetime risk of legal blindness.(5, 6) Successful treatment of amblyopia greatly depends on early detection and treatment of predisposing disorders such as congenital cataract, which is the most common cause of deprivational amblyopia. Understanding the genetic causes of congenital cataract leads to more effective screening tests, early detection and treatment of infants and children who are at high risk for hereditary congenital cataract.

  6. Treatment of Common Congenital Hand Conditions

    PubMed Central

    Oda, Takashi; Pushman, Allison G.; Chung, Kevin C.

    2015-01-01

    Objective After reading this article, the participant should be able to: 1. Recognize the clinical features associated with five common congenital hand conditions. 2. Describe the indications and appropriate timing for various surgical procedures used to treat congenital hand anomalies. 3. Identify the pearls and pitfalls of these surgical treatments in order to avoid complications. 4. Understand the expected post-operative outcomes associated with these surgical procedures. Summary This article will provide an introduction to congenital hand differences by focusing on practical surgical strategies for treating five commonly encountered conditions including syndactyly, constriction ring syndrome, duplicated thumb, hypoplastic thumb and trigger thumb. The accompanying videos will demonstrate common and reliable surgical techniques for syndactyly release, duplicated thumb reconstruction and pollicization for hypoplastic thumb. PMID:20811188

  7. Congenital malformations of the brain and spine.

    PubMed

    Shankar, Prashant; Zamora, Carlos; Castillo, Mauricio

    2016-01-01

    In this chapter we briefly address the most common congenital brain and spinal anomalies as well as their most salient imaging, especially magnetic resonance, findings. Some of them, such as Chiari II, and open spinal defects, have become relatively rare due to their detection in utero and repair of the spinal malformation. Regardless of the type of brain anomaly, the most common clinical symptoms are mental retardation, hydrocephalus, and seizure; the latter two may need to be surgically and medically addressed. The most commonly found spinal congenital anomalies include the filum terminale lipoma which is generally asymptomatic and incidental and the caudal regression syndrome for which no primary treatment exists. Any spinal congenital anomaly may present in adulthood as a consequence of spinal cord tethering and/or development of syringomyelia.

  8. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    PubMed

    Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

    2015-11-01

    Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations.

  9. Pentalogy of Cantrell; complete expression in a nine-month-old-boy

    PubMed Central

    Aliyu, Ibrahim; Mohammad, Mohammad Aminu

    2013-01-01

    Pentalogy of Cantrell is a rare congenital malformation whose exact cause is not completely understood; it is characterized by defects in the anterior abdominal and thoracic walls consisting of omphalocoele, diaphragmatic defect, ectopia cordis, intracardiac defects and sternal clefts. The complex has variable clinical expression with complete and incomplete expressions reported. We, therefore, report a case of complete manifestation of the pentad in a 9-month-old boy. PMID:23901184

  10. Characterization of Ribozymes Targeting a Congenital Night Blindness Mutation in Rhodopsin Mutation.

    PubMed

    Conley, Shannon M; Whalen, Patrick; Lewin, Alfred S; Naash, Muna I

    2016-01-01

    The G90D mutation in the rhodopsin gene leads to autosomal dominant congenital stationary night blindness (CSNB) in patients. This occurs because the G90D mutant protein cannot efficiently bind chromophore and is constitutively active. To combat this mutation, we designed and characterized two different hammerhead ribozymes to cleave G90D transcript. In vitro testing showed that the G90D1 ribozyme efficiently and specifically cleaved the mutant transcript while G90D2 cleaved both WT and mutant transcript. AAV-mediated delivery of G90D1 under the control of the mouse opsin promoter (MOP500) to G90D transgenic eyes showed that the ribozyme partially retarded the functional degeneration (as measured by electroretinography [ERG]) associated with this mutation. These results suggest that with additional optimization, ribozymes may be a useful part of the gene therapy knockdown strategy for dominant retinal disease.

  11. Congenital chylothorax in newborn with trisomy 21.

    PubMed

    Lomauri, Kh

    2014-11-01

    Neonatal chylothorax results from the accumulation of chyle in the pleural space and may be either congenital or an acquired condition. Congenital chylothorax is most likely due to abnormal development or obstruction of the lymphatic system. It is often associated with hydrops fetalis. It can be idiopathic or may be associated with various chromosomal anomalies including Trisomy 21, Turner syndrome, Noonan syndrome, and other genetic abnormalities. Congenital pulmonary lymphangiectasia and generalized lymphangiomatosis have also been reported to be associated with congenital chylothorax. Several case reports indicate that congenital chylothorax can recur in subsequent offspring, suggesting a possible underlying genetic etiology. It is important to identify infants with chylothorax, as there are specific issues that need to be addressed in the management of these patients. We present a case of newborn with trysomy 21 (trisomy 21 was diagnosed antenatally by amniocentesis with support of Association "Perinatology"), who developed moderate Respiratory Distress Syndrome, chest X-ray and US reveal pleural effusion on right side rapid intervention was made before deterioration, requiring intensive life-saving measures. In the neonate, chylous effusion is not a common cause of pleural effusions. It is characterized as an exudate because of the high protein and lipid content once the infant is fed. The fluid will be clear/yellow to slightly cloudy in the unfed state and will quickly become milky following feeding, as chylomicrons appear in the fluid. Lymphocytes predominate in the differential cell count of chyle. The volume of fluid output can be high, and management can be challenging. We review the common manifestations of congenital chylotoraxes and emphasize the importance of early diagnosis and intervention in preventing devastating outcomes from this condition.

  12. Air pollution and congenital heart defects.

    PubMed

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations.

  13. Epidemiology of congenital heart disease in Brazil

    PubMed Central

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

    2015-01-01

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

  14. Giant congenital diverticulum of the right atrium.

    PubMed

    Tomar, Munesh; Radhakrishnan, Sitaraman; Iyer, Krishna Subramony; Shrivastava, Savitri

    2008-01-01

    Congenital diverticulum of heart is a rare entity, which may arise from the atria, atrial appendages, coronary sinus or the ventricles. A 3-year-old child presented with history of early fatigability for 6 months and recent upper respiratory tract infection. Chest X-ray and echocardiogram revealed marked right atrial enlargement. At surgery, a right atrial diverticulum was excised under cardiopulmonary bypass. Pathology revealed thickened endocardium with edema and myocardial fiber hypertrophy. Our experience with this rare congenital disease is presented along with a review of the literature.

  15. New approaches to managing congenital diaphragmatic hernia.

    PubMed

    Ivascu, Felicia A; Hirschl, Ronald B

    2004-06-01

    A number of new techniques have been studied for managing newborns with congenital diaphragmatic hernia and respiratory insufficiency. Among these have been the techniques of delayed approach to the repair of the diaphragmatic hernia; permissive hypercapnia; nitric oxide and surfactant administration; intratracheal pulmonary ventilation; liquid ventilation; perfluorocarbon-induced lung growth; and lung transplantation. These interventions are at various stages of development and evaluation of effectiveness. All, however, are being explored in the hopes of improving outcome in patients with congenital diaphragmatic hernia who continue to have significant morbidity and mortality in the newborn period.

  16. Bone lesions in early congenital syphilis.

    PubMed

    Rosen, E U; Solomon, A

    1976-01-31

    A radiological study of bone changes in 112 children with congenital syphilis was undertaken. A similar number of normal children acted as a control group. Radiological examination of 5 syphilitic children showed that their bones were normal. Combined metaphyseal and periosteal lesions were the commonest bone disorders seen and are thus the most convincing radiological evidence of congenital syphilis. Transverse metaphyseal lucencies occur early in the disease, and with Wimburger's sign they are the prime evidence of pathology in syphilitic bone. Other radiographic changes are probably owing to minimal trauma in fragile disorganized bone. The occurrence of periosteal lesions alone has also been evaluated.

  17. [Radionuclide studies of congenital kidney abnormalities].

    PubMed

    Vlakhov, N

    1984-06-01

    Using the potentialities of isotope nephrograms as a screening test a total of 4746 patients suspected of renal abnormalities were examined. The author established pathological deviations in 561 cases (11.8%). During further verification using scintigraphy unsuspected congenital renal abnormalities (aplasia, hypoplasia, dystopia, double kidney, horseshoe kidney, solitary cyst and polycystic renal disease) were found in 46 patients (8.2%). The diagnosis was confirmed at subsequent venous x-ray urography. A conclusion has been made as to the role of comprehensive nephrographic-scintigraphic examination in the diagnosis of congenital renal abnormalities.

  18. Congenital agminated melanocytic nevus - case report*

    PubMed Central

    da Rocha, Camila Roos Mariano; Grazziotin, Thaís Corsetti; Rey, Maria Carolina Widholzer; Luzzatto, Laura; Bonamigo, Renan Rangel

    2013-01-01

    Agminated nevus is a cluster group of melanocytic nevi confined to a localized area of the body. There are many pigmented lesions described in the literature as agminated, such as blue nevi, multiple lentigines and Spitz nevi, but only a few cases of congenital agminated melanocytic nevi have been described. We report a case of a male child who presented with congenital agminated nevi, emphasizing the importance of physical examination, dermoscopy, histopathological evaluation, differential diagnosis and follow up to rule out the possibility of dysplastic or malignant changes. PMID:24346910

  19. Leber's congenital amaurosis associated with hyperthreoninemia.

    PubMed

    Hayasaka, S; Hara, S; Mizuno, K; Narisawa, K; Tada, K

    1986-04-15

    Two siblings had Leber's congenital amaurosis. The girl (Patient 1) showed blindness shortly after birth, absent pupillary light reflex, and multiple round, white spots in both fundi. Her serum threonine level was increased (2.0 to 5.3 mg/dl; normal, 0.78 to 1.82 mg/dl). She died of massive pericardial effusion four months after birth. Her brother (Patient 2) was nearly blind shortly after birth. He had a poor pupillary light reflex and a nearly extinguished electroretinographic response. He also had hyperthreoninemia, hyperthreoninuria, hepatomegaly, and mental and physical retardation. We suspect a close relationship between hyperthreoninemia and Leber's congenital amaurosis in these siblings.

  20. Leber's congenital amaurosis associated with mitochondrial dysfunction.

    PubMed

    Castro-Gago, M; Pintos-Martínez, E; Beiras-Iglesias, A; Maroto, S; Campos, Y; Arenas, J; Eirís-Puñal, J

    1996-03-01

    We report the case histories of two 6-month-old girls, both with young, nonconsanguineous parents, referred to us for suspected blindness. In both cases, Leber's congenital amaurosis was diagnosed. Due to persistently high lactic acid levels in blood, muscle biopsies were taken. Analysis of biopsies revealed that both patients had low levels of complex IV of the mitochondrial respiratory chain; one patient additionally had low levels of complex III. Microscopic and ultrastructural alterations of muscle, typically observed in mitochondrial disorders, were observed only in the second patient. These observations raise the possibility that at least some cases of Leber's congenital amaurosis may be due to alterations in the mitochondrial respiratory chain.

  1. Congenital glaucoma in cutis marmorata teleangiectatica congenita.

    PubMed

    Mayatepek, E; Krastel, H; Völcker, H E; Pfau, B; Almasan, K

    1991-01-01

    A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.

  2. NEW BORN SCREENING IN PREVENTING CONGENITAL HYPOTHYROIDISM.

    PubMed

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

    2015-01-01

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

  3. Congenital malformations of the temporal bone.

    PubMed

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  4. Congenital Absence of the Internal Carotid Artery

    SciTech Connect

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

    1999-01-15

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

  5. Congenital color blindness in young Turkish men.

    PubMed

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

    2005-04-01

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

  6. Congenital dislocation of the patella - clinical case.

    PubMed

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

    2016-01-01

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

  7. Congenital Minamata disease: warnings from Japan's experience.

    PubMed

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  8. Giant congenital diaphragmatic hernia in an adult

    PubMed Central

    2014-01-01

    Bochdalek hernia is the most common type of congenital diaphragmatic hernia. It appears frequently in infants but rarely in adults. We present the case of a 50-year-old female han patient with tremendous left-sided congenital posterolateral diaphragmatic hernia (Bochdalek hernia) who also has a pair of supernumerary breasts and pulmonary hypoplasia of the lower-left lobe. The patient had an experience of misdiagnosis and she was treated for bronchitis for one year until being admitted to our hospital. This case study emphasizes the rare presentation of Bochdalek hernia in adults and the necessity of high clinical attention to similar cases. PMID:24512974

  9. Acquired Congenital Malalignment of the Great Toenails

    PubMed Central

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

    2016-01-01

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

  10. Radiographic findings in congenital lead poisoning

    SciTech Connect

    Pearl, M.; Boxt, L.M.

    1980-07-01

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

  11. [Congenital lobar hyperinflation: conservative management as an alternative therapy].

    PubMed

    Hermoso Torregrosa, C; Moreno Medinilla, E; Pérez Ruiz, E; Caro Aguilera, P; Pérez Frías, F J

    2014-07-01

    Congenital lobar emphysema used to be treated surgically. Congenital lobar hyperinflation is the currently recommended term, as it involves pathologically healthy lung tissue, which is why conservative management may be an option. Four cases of diagnosed congenital lobar hyperinflation are presented in which conservative treatment was chosen due to their clinical stability. Their outcome has been satisfactory with progressively normal radiology.

  12. Congenital torticollis caused by unilateral absence of the sternocleidomastoid muscle.

    PubMed

    Raman, Subha; Takhtani, Deepak; Wallace, E Christine

    2009-01-01

    Congenital torticollis is most commonly caused by benign fibrosis of the sternocleidomastoid muscle. Absence of the sternocleidomastoid muscle is a rare cause of congenital torticollis. There have been fewer than a dozen reported cases of agenesis of the sternocleidomastoid muscle. We describe a case of congenital absence of the sternocleidomastoid diagnosed by US and confirmed on MRI.

  13. Symptoms of Autism among Children with Congenital Deafblindness

    ERIC Educational Resources Information Center

    Dammeyer, Jesper

    2014-01-01

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

  14. Congenital Extrahepatic Portosystemic Shunts: Spectrum of Findings on Ultrasound, Computed Tomography, and Magnetic Resonance Imaging

    PubMed Central

    Gupta, Pankaj; Sinha, Anindita; Sodhi, Kushaljit Singh; Lal, Anupam; Debi, Uma; Thapa, Babu R.; Khandelwal, Niranjan

    2015-01-01

    Congenital extrahepatic portosystemic shunt (CEPS) is a rare disorder characterised by partial or complete diversion of portomesenteric blood into systemic veins via congenital shunts. Type I is characterised by complete lack of intrahepatic portal venous blood flow due to an end to side fistula between main portal vein and the inferior vena cava. Type II on the other hand is characterised by partial preservation of portal blood supply to liver and side to side fistula between main portal vein or its branches and mesenteric, splenic, gastric, and systemic veins. The presentation of these patients is variable. Focal liver lesions, most commonly nodular regenerative hyperplasia, are an important clue to the underlying condition. This pictorial essay covers imaging characteristics in abdominopelvic region. PMID:26858845

  15. Transparency and Public Reporting of Pediatric and Congenital Heart Surgery Outcomes in North America.

    PubMed

    Jacobs, Jeffrey P; Jacobs, Marshall L

    2016-01-01

    Health care is embarking on a new era of increased transparency. In January 2015, the Society of Thoracic Surgeons (STS) began to publicly report outcomes of pediatric and congenital cardiac surgery using the 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) Mortality Risk Model. Because the 2014 STS CHSD Mortality Risk Model adjusts for procedural factors and patient-level factors, it is critical that centers are aware of the important impact of incomplete entry of data in the fields for patient-level factors. These factors are used to estimate expected mortality, and incomplete coding of these factors can lead to inaccurate assessment of case mix and estimation of expected mortality. In order to assure an accurate assessment of case mix and estimate of expected mortality, it is critical to assure accurate completion of the fields for patient factors, including preoperative factors. It is crucial to document variables such as whether the patient was preoperatively ventilated or had an important noncardiac congenital anatomic abnormality. The lack of entry of these variables will lead to an underestimation of expected mortality. The art and science of assessing outcomes of pediatric and congenital cardiac surgery continues to evolve. In the future, when models have been developed that encompass other outcomes in addition to mortality, pediatric and congenital cardiac surgical performance may be able to be assessed using a multidomain composite metric that incorporates both mortality and morbidity, adjusting for the operation performed and for patient-specific factors. It is our expectation that in the future, this information will also be publicly reported. In this era of increased transparency, the complete and accurate coding of both patient-level factors and procedure-level factors is critical.

  16. Outcome of congenital adrenal hyperplasia.

    PubMed

    Kuhnle, U; Bullinger, M

    1997-09-01

    In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, affected girls are born with ambiguous genitalia due to increased secretion of androgens in utero by the defective adrenal gland. Even though it is generally accepted that there are differences between male and female brain development, determining factors have been difficult to identify. Girls with CAH have frequently been studied to evaluate the impact of prenatal androgen exposure on psychological, psychosocial, and psychosexual development, and impairments in various areas have been identified. However, there is no comprehensive study available regarding the outcome of this chronic disorder in adult life. We studied the quality of life in women with CAH, with particular emphasis on how they cope with genital malformations, genital operations, and chronic disease as well as lifelong medication. The patients filled out questionnaires covering their physical state, psychological well-being, social relationships, and functional capacity, as well as questionnaires on psychosexual identification and psychosocial integration. The results were evaluated using a computerized statistical program for social studies. Out of a total of 94 patients above 18 years of age, 45 agreed to participate and were compared to 46 healthy, age-matched controls. Age at diagnosis was 2. 31 +/- 1.55 years and 38% suffered from the simple-virilizing, 45% from the salt-wasting, and 17.0% from the late-onset form of CAH. About one-third of patients had Prader stage 3 or 4 genital virilization. While the overall quality of life did not differ significantly, CAH patients were more often single (47.8% vs. 66.7%) and fewer of them had children (22.2% vs. 38.6%) compared to controls. Significant impairments were found in regard to body image and attitudes toward sexuality, but there was no increased homosexual preference. The women were successful in adjusting to illness and receiving social support. It is speculated that

  17. 40 CFR 60.4305 - Does this subpart apply to my stationary combustion turbine?

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... stationary combustion turbine? 60.4305 Section 60.4305 Protection of Environment ENVIRONMENTAL PROTECTION... of Performance for Stationary Combustion Turbines Applicability § 60.4305 Does this subpart apply to my stationary combustion turbine? (a) If you are the owner or operator of a stationary...

  18. 40 CFR 60.4305 - Does this subpart apply to my stationary combustion turbine?

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... stationary combustion turbine? 60.4305 Section 60.4305 Protection of Environment ENVIRONMENTAL PROTECTION... of Performance for Stationary Combustion Turbines Applicability § 60.4305 Does this subpart apply to my stationary combustion turbine? (a) If you are the owner or operator of a stationary...

  19. Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia.

    PubMed

    Ludwig, Kathrin; Salmaso, Roberto; Cosmi, Erich; Iaria, Loredana; De Luca, Alessandro; Margiotti, Katia; Valentina, Citton; Manara, Renzo; Rugge, Massimo

    2012-01-01

    Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2∶1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.

  20. Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.

    PubMed

    Takcı, Sahin; Korkmaz, Ayşe; Simşek-Kiper, Pelin Ozlem; Utine, Gülen Eda; Boduroğlu, Koray; Yurdakök, Murat

    2012-01-01

    Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched palate, absence of paranasal sinuses, and palatal and ocular abnormalities. Less than 40 patients with arhinia have been reported so far[],[]. We report herein on a patient with partial arhinia and holoprosencephaly presenting with respiratory insufficiency and diabetes insipidus.

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

    PubMed

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

    2007-09-01

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

  2. Latino College Completion: Maine

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  3. Latino College Completion: Connecticut

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  4. Latino College Completion: California

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  5. Latino College Completion: Ohio

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  6. Latino College Completion: Massachusetts

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  7. Latino College Completion: Florida

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  8. Latino College Completion: Iowa

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  9. Latino College Completion: Hawaii

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  10. Latino College Completion: Mississippi

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  11. Latino College Completion: Maryland

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  12. Latino College Completion: Montana

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  13. Latino College Completion: Nevada

    ERIC Educational Resources Information Center

    Excelencia in Education (NJ1), 2012

    2012-01-01

    In 2009, Excelencia in Education launched the Ensuring America's Future initiative to inform, organize, and engage leaders in a tactical plan to increase Latino college completion. An executive summary of Latino College Completion in 50 states synthesizes information on 50 state factsheets and builds on the national benchmarking guide. Each…

  14. [Successful gene therapy of mice with congenital erythropoietic porphyria].

    PubMed

    de Verneuil, Hubert; Robert-Richard, Elodie; Ged, Cécile; Mazurier, Frédéric; Richard, Emmanuel; Moreau-Gaudry, François

    2008-01-01

    Porphyrias are a group of disorders due to a genetic deficiency in one of the heme biosynthetic pathway enzymes. Congenital erythropoietic porphyria (CEP) is the most severe type characterized by a deficiency in uroporphyrinogen III synthase (UROS) activity. Bone marrow transplantation represents a curative treatment for patients, as long as human leucocyte antigen-compatible donor is available. We used a recently obtained murine model to check the feasibility of gene therapy in this disease. Lentivirus-mediated transfer of the human UROS cDNA into hematopoietic stem cells (HSCs) from Uros(mut 248) mice resulted in a complete and long-term enzymatic, metabolic and phenotypic correction of the disease, favored by a survival advantage of corrected red blood cells. These results demonstrate for the first time that the cure of this mouse model of CEP at moderate transduction level supports the proof of concept of a gene therapy in this disease by transplantation of genetically modified HSCs.

  15. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    PubMed Central

    Zhou, Yu; Zhai, Yaru; Huang, Lulin; Gong, Bo; Li, Jie; Hao, Fang; Wu, Zhengzheng

    2016-01-01

    Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract. PMID:28025620

  16. Somatic memory and gain increase as preconditions for tinnitus: Insights from congenital deafness.

    PubMed

    Eggermont, Jos J; Kral, Andrej

    2016-03-01

    Tinnitus is the conscious perception of sound heard in the absence of physical sound sources internal or external to the body. The characterization of tinnitus by its spectrum reflects the missing frequencies originally represented in the hearing loss, i.e., partially or completely deafferented, region. The tinnitus percept, despite a total hearing loss, may thus be dependent on the persisting existence of a somatic memory for the "lost" frequencies. Somatic memory in this context is the reference for phantom sensations attributed to missing sensory surfaces or parts thereof. This raises the question whether tinnitus can exist in congenital deafness, were somatic representations have not been formed. We review the development of tonotopic maps in altricial and precocial animals evidence for a lack of tinnitus in congenital deafness and the effects of cochlear implants on the formation of tonotopic maps in the congenitally deaf. The latter relates to the emergence of tinnitus in these subjects. The reviewed material is consistent with the hypothesis that tinnitus requires an established and actively used somatotopic map that leads to a corresponding somatic memory. The absence of such experience explains the absence of tinnitus in congenital bilateral and unilateral deafness.

  17. Female pelvic congenital malformations. Part I: embryology, anatomy and surgical treatment.

    PubMed

    Laterza, Rosa M; De Gennaro, Mario; Tubaro, Andrea; Koelbl, Heinz

    2011-11-01

    This review covers the most important female congenital pelvic malformations. The first part focuses on the embryological development of the urogenital and anorectal apparatus, morphological features, and the diagnostic and surgical approach to abnormalities. Comprehension of the embryological development of the urogenital and anorectal apparatus is essential to understand the morphology of congenital pelvic abnormalities and their surgical treatment. Congenital pelvic malformations are characterized by specific common features; the severity of which often subverts the pelvic morphology completely and makes it difficult to comprehend before surgery. The development of imaging, mainly magnetic resonance imaging and ultrasound, in the investigation of pelvic floor disorders has recently become a fundamental tool for surgeons to achieve better understanding of the anatomy. Forty years ago, the primary aim of clinicians was to save the lives of such patients and to achieve anatomical normality. However, nowadays, functional reconstruction and recovery are essential parts of surgical management. Introduction of minimally invasive surgery has allowed the improvement of cosmetic results that is so important in paediatric or adolescent patients after reconstructive surgery. The option of sharing the complexity of pelvic congenital diseases by entrusting specific competencies to subspecialists (paediatric urologists, urogynaecologists, neurourologists, paediatric endocrinologists and neonatologists) has improved the quality of care for patients. However, at the same time, active interaction between various specialists remains fundamental. The exchange of knowledge and expertise, not only during the diagnostic-therapeutic process but also during follow-up, is crucial to obtain the best anatomical and functional results throughout the life of the patient.

  18. Congenital Pleomorphic Adenoma in a SubmandibularGland of a Newborn- A Case Report

    PubMed Central

    Azma, Roxana; Fallahi, Minoo; Khoddami, Maliheh; Shamsian, Bibi Shahin; Alavi, Samin

    2016-01-01

    Introduction: Pleomorphic adenoma is a rare benign salivary gland neoplasm in children, which can be treated by simple excision. This tumor is rarely included in the differential diagnosis of solid submandibular masses in children. In the neonates, congenital pleomorphic adenoma usually presents in the nasopharynx. Surgical excision is the treatment of choice and recurrence is not expected. We report what appears to be the first case of congenital pleomorphic adenoma in the submandibular region in a one-day-old newborn. Case Report: The case of a one-day-old term baby is presented with a 5x2 cm left submandibualr mass with extension to the oral cavity. The mass was hard and non-mobile. During Ultrasonography and Contrast-enhanced Computed Tomography (CT) scan, the mass was solid with a heterogeneous internal structure. The tumor was completely excised and proved to be a pleomorphic adenoma during histopathological examination. Conclusion: Congenital pleomorphic adenoma rarely occurs in the nasopharynx and is treated by surgical excision. Our case is unique because the congenital pleomorphic adenoma is located in the submandibular gland of a newborn. PMID:27280103

  19. Congenital glioblastoma coexisting with vascular developmental anomaly.

    PubMed

    Laure-Kamionowska, Milena; Szymanska, Krystyna; Biekiesinska-Figatowska, Monika; Gierowska-Bogusz, Barbara; Michalak, Elżbieta; Klepacka, Teresa

    2013-01-01

    Congenital central nervous tumours form a unique group of neoplasms. They are different from other tumour groups not only due to the onset time but also to their histopathology, anatomic location, and biologic behaviour. Congenital glioblastoma is one of the rarest types of congenital brain tumours and is uncommon in the prenatal period. We report a rare case of congenital glioblastoma detected prenatally by ultrasound examination and magnetic resonance imaging at 26 gestational weeks. Based on MRI findings and consultation of a team of specialists, pregnancy was terminated at 28 weeks. The newborn presented hydrops foetal. The child died shortly after birth due to cardiorespiratory insufficiency. At autopsy a large tumour with a spongy-like appearance was found. The tumour involved nearly the whole right cerebral hemisphere and led to marked hydrocephalus. In the histological and immunohistochemical examination, the tumour presented features of glioblastoma. Neoplastic cells were immunopositive for GFAP, S-100 protein and negative for neuronal markers. Frequent mitoses and high MIB-1 labelling index were seen in the tumour areas. The coexistence of tumour and vascular developmental anomaly was stated. The conglomerates of numerous, distended, thin-walled foetal-like blood vessels were located beside the tumour tissue, which presented disturbance in differentiation and maturation of the vascular net. Such coexistence of malignant glioma with vascular developmental anomaly is unique.

  20. Unilateral congenital elbow luxation in a dachshund

    PubMed Central

    Fafard, Alain R.

    2006-01-01

    Congenital elbow luxation was diagnosed in a 12-week-old, intact male, dachshund with a lateral elbow prominence and mild lameness of the right forelimb. Closed reduction of the radial head, ulnar ostectomy, and external stabilization of the joint were performed. Function was returned to the limb, but radial head and ulnar subluxation persisted. PMID:17017659