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Sample records for arthrogryposis multiplex congenital

  1. Arthrogryposis multiplex congenita - a rare congenital stiff joints syndrome

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    Velisavljev-Filipović Gordana

    2006-01-01

    Full Text Available Introduction: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. Case report. This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated. The electromyographic picture indicate non-specific signs of

  2. Lethal congenital muscular dystrophy with arthrogryposis multiplex congenita : three new cases and review of the literature

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    Sombekke, B H; Molenaar, W M; Essen, A J van; Schoots, C J

    1994-01-01

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of muscle disorders. We report on two stillborn sibs with early lethal CMD and a prematurely born boy who died within minutes after birth. The pregnancies were complicated by polyhydramnios. All presented with arthrogryposis multipl

  3. Characterization of a group unrelated patients with arthrogryposis multiplex congenita

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    Margarita Valdés-Flores

    2016-02-01

    Full Text Available ABSTRACT OBJECTIVE: Arthrogryposis multiplex congenita is a relatively rare neuromuscular syndrome, with a prevalence of 1:3000-5000 newborns. In this study, the authors describe the clinical features of a group of 50 unrelated Mexican patients with arthrogryposis multiplex congenita. METHODS: Patients were diagnosed by physical and radiographic examination and the family history was evaluated. RESULTS: Of the 50 cases, nine presented other features (pectum excavatum, cleft palate, mental retardation, ulnar agenesis, etc.. Environmental factors, as well as prenatal and family history, were analyzed. The chromosomal anomalies and clinical entities associated with arthrogryposis multiplex congenita were reported. No chromosomal aberrations were present in the cases with mental retardation. Three unrelated familial cases with arthrogryposis multiplex congenita were observed in which autosomal recessive, autosomal dominant and X-linked inheritance patterns are possible. A literature review regarding arthrogryposis multiplex congenita was also conducted. CONCLUSIONS: It is important to establish patient-specific physical therapy and rehabilitation programs. A multidisciplinary approach is necessary, with medical, surgical, rehabilitation, social and psychological care, including genetic counseling.

  4. Congenital Zika syndrome with arthrogryposis: retrospective case series study

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    Filho, Epitacio Leite Rolim; Lins, Otavio Gomes; Aragão, Maria de Fátima Viana Vasco; Brainer-Lima, Alessandra Mertens; Cruz, Danielle Di Cavalcanti Sousa; Rocha, Maria Angela Wanderley; Sobral da Silva, Paula Fabiana; Carvalho, Maria Durce Costa Gomes; do Amaral, Fernando José; Gomes, Joelma Arruda; Ribeiro de Medeiros, Igor Colaço; Ventura, Camila V; Ramos, Regina Coeli

    2016-01-01

    Objective To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. Design Retrospective case series study. Setting Association for Assistance of Disabled Children, Pernambuco state, Brazil. Participants Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. Main outcome measures Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. Results The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. Conclusions Congenital Zika syndrome should be added to the differential diagnosis of congenital

  5. ULTRASOUND GUIDED ILIOINGUINAL AND ILIOHYPOGASTRIC NERVE BLOCK FOR INGUINAL HERNIA REPAIR IN ARTHROGRYPOSIS MULTIPLEX CONGENITA

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    Paul O.

    2015-06-01

    Full Text Available Arthrogryposis multiplex congenita (AMC refers to a syndrome of unknown etiology with multiple congenital contractures in one or more joints with a concomitant inability of passive extension and flexion . The overall prevalence of arthrogryposis is one in 3000 live births . The extensive contractures , tense skin , minimal muscle mass and subcutaneous tissue pose challenges in anaesthetic management. We report a seven year old boy (15 kg , known case of AMC with congenital talipes equino varus (CTEV and bilateral hip dislocation posted for right sided herniot omy and orchidopexy. We planned to combine general anaesthesia without muscle relaxants and regional nerve block. The child was induced with propofol and Classic LMA Size 2 was inserted. An ilioinguinal and i liohypogastric nerve block was given under ultrasound guidance using 0.2% ropivacaine. Pateint remained hemodynamically stable during surgery with minimal anaesthetic requirement and no anlgesics. Analgesia lasted for 8 hours postoperatively. Combining narcosis with regional anaesthesia leads to a reduced demand for anaesthetics , stable circulatory conditions , maintenance of spontaneous breathing , prevention of stress and sufficient postoperative analgesia

  6. Arthrogryposis Multiplex: A Case Report La artrogriposis múltiple: a propósito de un caso

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    Diego Alexis Blanco Manso

    2012-11-01

    Full Text Available Congenital muscular dystrophies appear from birth or early infancy with hypotonia and loss of proximal or generalized muscle strength. Contractures at birth are called arthrogryposis. Arthrogryposis multiplex is a disorder that is identified by congenital stiffness of one or more joints, caused by hypoplasia of the muscles in the region and also by an incomplete fibrous ankylosis. Some experts have attributed the disease to a prolonged intrauterine compression, but others propose that it is more likely that the syndrome originates from an early period of embryonic life. We report a case of arthrogryposis multiplex with walking impossibility due to a broken kneecap. Through rehabilitation in the Specialized Outpatient Center, the patient achieves locomotion.Las distrofias musculares congénitas se presentan desde el nacimiento o los primeros meses de vida con hipotonía y pérdida de la fuerza muscular proximal o generalizada. A las contracturas presentes al nacer se les denomina artrogriposis. La artrogriposis múltiple es un trastorno que se identifica por la rigidez congénita de una o más articulaciones, causada por la hipoplasia de los músculos ubicados en la región y también por una anquilosis fibrosa incompleta. Algunos especialistas han atribuido esta enfermedad a una compresión intrauterina prolongada, en cambio otros plantean, que es mucho más viable que el síndrome se origine en un periodo temprano de la vida embrionaria. Se presenta un caso de artrogriposis múltiple con imposibilidad para la marcha producto de una fractura de rótula que a por medio de la rehabilitación en el Centro Especializado Ambulatorio logra la locomoción.

  7. Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

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    K. M. Usrey

    2014-01-01

    Full Text Available The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5. The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 BP1-BP2 region have been reported in patients with neurological dysfunction, developmental delays, behavioral problems, and dysmorphic features. We report two unrelated subjects with the 15q11.2 BP1-BP2 microdeletion and presenting with congenital arthrogryposis, a feature which has not been previously reported as part of this newly recognized microdeletion syndrome. While arthrogryposis seen in these two subjects may be coincidental, we propose that congenital arthrogryposis may result from neurological dysfunction and involvement of the microdeletion of the 15q11.2 BP1-BP2 region, further expanding the phenotype of this microdeletion syndrome. We encourage others to report patients with this chromosome microdeletion and neurological findings to further characterize the clinical phenotype.

  8. Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.

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    Tiemann, Christian; Bührer, Christoph; Burwinkel, Barbara; Wirtenberger, Michael; Hoehn, Thomas; Hübner, Christoph; van Landeghem, Frank K H; Stoltenburg, Gisela; Obladen, Michael

    2005-08-30

    We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded.

  9. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

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    Carlos Augusto Alencar Júnior

    1998-09-01

    Full Text Available A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência de movimentação fetal, polidrâmnio e concepto com retardo de crescimento intra-uterino, tipo misto, com acentuada diminuição da circunferência abdominal e torácica, implantação baixa dos pavilhões auriculares, micrognatia, flexão contínua dos membros inferiores e superiores, rotação interna dos fêmures e pé torto à direita.Arthrogryposis multiplex congenita is characterized by multiple joint contractures present at birth. Prenatal diagnosis is difficult. There are few reports in the literature. Fetal akinesia, abnormal limb position, intrauterine growth retardation, and polyhydramnios are the main findings of the ultrasonographic diagnosis. The authors describe a case of arthrogryposis multiplex congenita ultrasonographically diagnosed in the third gestational trimester. The main findings were absence of fetal movements, polyhydramnios, symmetrical and non-symmetrical fetal growth retardation with marked decrease of abdominal and thoracic circumference, low-set ears, micrognathia, continuous flexure contracture of limbs, internal rotation of the femur, and clubfoot on the right.

  10. Arthrogryposis as a Syndrome: Gene Ontology Analysis.

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    Hall, Judith G; Kiefer, Jeff

    2016-07-01

    Arthrogryposis by definition has multiple congenital contractures. All types of arthrogryposis have decreased in utero fetal movement. Because so many things are involved in normal fetal movement, there are many causes and processes that can go awry. In this era of molecular genetics, we have tried to place the known mutated genes seen in genetic forms of arthrogryposis into biological processes or cellular functions as defined by gene ontology. We hope this leads to better identification of all interacting pathways and processes involved in the development of fetal movement in order to improve diagnosis of the genetic forms of arthrogryposis, to lead to the development of molecular therapies, and to help better define the natural history of various types of arthrogryposis. PMID:27587986

  11. Arthrogryposis - case report

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    Mariana CEVEI

    2008-05-01

    Full Text Available Arthrogryposis is a congenital disorder characterized by multiple joint contractures found throughout the body at birth. We present the case of a 3.5 year-old girl with multiple congenital defects: arthrogryposis involving bilateral hip, knee and ankle joints, together with sacral agenesis and with lumbar dysmorphism, anorectal agenesis, hydronephrosis of the left kidney as the result from reflux, right kidney hypoplasia, renal fusion and heart anomalies: tetralogy of Fallot. Immediately after birth, in several steps, colostomy, left ureterocystoneostomy and suprapubic cystostomy were performed. Later in infancy corrective surgery for the heart defect was required. At the age of 2 years, surgery for the equinovarus deformities and for left genu flexum was performed. Medical rehabilitation tries to maximize independent function. The main goals were increasing the muscle tonus of upper-limbs, increase the rate of motion of the joints, establishment of stability for ambulation, learning different schemes of movement according to her needs, obtaining of a functional independency. The therapies were successful, after 10 weeks an improvement of the moving capacity and of the transfer in orthostatism with minimal external assistance, with the obvious increasing of the patient's satisfaction, were noticed.

  12. Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5.

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    Murphy, Angela M; MacHugh, David E; Park, Stephen D E; Scraggs, Erik; Haley, Chris S; Lynn, David J; Boland, Maurice P; Doherty, Michael L

    2007-01-01

    Arthrogryposis is a congenital malformation affecting the limbs of newborn animals and infants. Previous work has demonstrated that inherited ovine arthrogryposis (IOA) has an autosomal recessive mode of inheritance. Two affected homozygous recessive (art/art) Suffolk rams were used as founders for a backcross pedigree of half-sib families segregating the IOA trait. A genome scan was performed using 187 microsatellite genetic markers and all backcross animals were phenotyped at birth for the presence and severity of arthrogryposis. Pairwise LOD scores of 1.86, 1.35, and 1.32 were detected for three microsatellites, BM741, JAZ, and RM006, that are located on sheep Chr 5 (OAR5). Additional markers in the region were identified from the genetic linkage map of BTA7 and by in silico analyses of the draft bovine genome sequence, three of which were informative. Interval mapping of all autosomes produced an F value of 21.97 (p < 0.01) for a causative locus in the region of OAR5 previously flagged by pairwise linkage analysis. Inspection of the orthologous region of HSA5 highlighted a previously fine-mapped locus for human arthrogryposis multiplex congenita neurogenic type (AMCN). A survey of the HSA5 genome sequence identified plausible candidate genes for both IOA and human AMCN.

  13. Redução cirúrgica da luxação do quadril em pacientes com artrogripose múltipla congênita: acesso anteromedial Open reduction of hip dislocation in patients with arthrogryposis multiplex congenita: an anteromedial approach

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    Luis Eduardo Munhoz da Rocha

    2010-01-01

    postoperative articular mobility, was evaluated by summing the joint range-of-motion arc of flexion and abduction. , Pre-operatively, the acetabular angle and height of the neck of femur were evaluated radiographically and postoperatively, the continuity of the arc of Shenton, acetabular angle, Sharp angle and CE angle. The presence of avascular necrosis was classified according to Ogden and Bucholz. RESULTS: The average of age of the children at the time of the surgery was 5.5 months (3 to 11 months. The average follow-up time for the patients was 9.5 years (2 to 13 years. The average of the amplitude of movement of the sum of the joint mobility arc in flexion and abduction in the pre-operative examination was 108° (70° to 155 ° and postoperatively it was 125° (75° 175°. In the last evaluation, eight hips were centered and two were subluxated. Two hips had been submitted to a Salter iliac osteotomy. Two hips (20% had presented significant signs of Ogden type IV avascular necrosis . Eight hips had good results while two were fair. CONCLUSION: We consider the antero-medial approach a good option for the treatment of the dislocation of the hip in patients of low congenital age with arthrogryposis multiplex congenita.

  14. Management of airway for scoliosis patients associated with arthrogryposis multiplex congenita%先天性多发性关节挛缩症伴脊柱侧凸患者气道管理

    Institute of Scientific and Technical Information of China (English)

    刘延军; 马正良; 顾小萍

    2015-01-01

    Objective To summarize the experience of management of airway in scoliosis patients associated with arthrogryposis multiplex congenita (AMC).Methods The medical records of twenty scoliosis patients associated with AMC undergoing spinal corrective surgery in our hospital were retrospectively reviewed.There were twelve male patients and eight female patients in our study.The age of patients averaged at (14.9±3.7) years, ranging from 9 to 24 years.The median degree of preoperative Cobb angle was 90 degrees, with the maximum Cobb angle of 147 degrees.The following data were recorded: the grade of Mallampati,the results of pulmonary function tests, whether it was difficult airway or not, the special instrument for intubation, whether it was admitted to intensive care unit (ICU) or not after surgery, and the time from end of surgery to tracheal extubation.Results The cases of Mallampati Ⅰ , Ⅱ, Ⅲ, and Ⅳ grade was 3 (15%), 9(45%), 5(25%), and 3(15%), respectively.All patients suffered from pulmonary dysfunction.The cases of mild, moderate and severe preoperative pulmonary dysfunction was 1 (5%), 4 (20%) and 15 (75%), respectively.Five patients with anticipated difficult airway were successfully intubated via fiber bronchoscope.After surgery,seven patients with difficult tracheal extubation caused by lung ventilation dysfunction were admitted to ICU to monitor vital signs closely.The time from end of surgery to tracheal extubation varied greatly, ranging from 10 min to 1 115 min.Conclusions The patient's airway should be thoroughly examined by the attending anesthesiologists during preoperative interview, whose attention should be focused on assessing difficult airway, especially for difficult intubation.The anesthetists should make well preparations for difficult airway, especially for difficult intubation, including emergency drugs, and special instruments for intubation.%目的 总结先天性多发性关节挛缩症(arthrogryposis multiplex

  15. Surgical treatment of scoliosis in a rare disease: arthrogryposis

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    Maredi Elena

    2010-11-01

    Full Text Available Abstract Background The reported incidence of scoliosis in arthrogryposis varies from 30% to 67% and, in most cases, the curves progress rapidly and become stiff from early age. The authors report six cases of scoliosis in arthrogryposis to assess the role of surgical treatment. Methods Six cases (3 males, 3 females; mean age at surgery 13.2 years with arthrogryposis multiplex congenita associated with the characteristic amyoplasia were reviewed: they were operated on for scoliosis at the authors' Spine Surgery Department between 1987 and 2008. Surgery was performed using the Harrington-Luque instrumentation (2 cases, the Luque system (1, a hybrid segmental technique with hooks and screws (1 and spinal anchoring with pedicle screws (2. Results The patients were clinically and radiologically reviewed at a mean follow-up of 4.2 years, ± 2.7 (range, 1 to 9 years. Three minor postoperative complications were encountered; a long-term pulmonary complication was seen in one case after reintervention and was successfully resolved after 10 days. Surgery was successful in the other 5 cases, where solid arthrodesis was achieved and no significant curve progression was observed at follow-up. Conclusions The experience acquired with the present case series leads the authors to assert that prompt action should be taken when treating such aggressive forms of scoliosis. In case of mild spinal deformities in arthrogryposis, brace treatment should be attempted, the evolution of the curves being unpredictable; however, when the curve exceeds 40° and presents with marked hyperkyphosis, hyperlordosis or pelvic obliquity, surgery should not be delayed.

  16. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification

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    Sørensen, Karina Meden; El-Segaier, Milad; Fernlund, Eva;

    2012-01-01

    with CHD for CNVs in specific genomic regions may lead to early diagnosis and awareness of extracardiac symptoms. We designed a multiplex ligation-dependent probe amplification (MLPA) assay specifically for screening of CHD patients. The MLPA assay allows for simultaneous analysis of CNVs in 25 genomic...

  17. Walking ability in patients with arthrogryposis multiplex congenita

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    Perajit Eamsobhana

    2014-01-01

    Conclusion: AMC is a rare disease that causes disability, requiring multiple surgeries to correct deformities. Our study showed that residual knee flexion contracture was associated with nonambulatory status of patients with AMC.

  18. Arthrogryposis in Murrah buffaloes in southern Brazil Artrogripose em búfalos Murrah no Sul do Rio Grande do Sul, Brasil

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    Ana Lucia Schild; Mauro P. Soares; Damé, Maria C.; Enrique L. Portianski; Franklin Riet-Correa

    2003-01-01

    Congenital arthrogryposis is described in a Murrah buffalo herd. The disease was characterized by curvature and multiple articular rigidity of the hindlimbs or of all limbs without associated defects except for one case of brachygnatia. Histologically there was reduction of motor neurons from the ventral horns of the spinal cord and hypoplasia of the limb muscles. Analysis of the herd breeding records suggests that the disease is genetically transmitted by an autosomal recessive trait.Artrogr...

  19. Virus-induced congenital malformations in cattle.

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

    2015-01-01

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

  20. Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

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    Valentina Guida

    2010-01-01

    Full Text Available GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs, mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis.

  1. Study of 30 patients with unexplained developmental delay and dysmorphic features or congenital abnormalities using conventional cytogenetics and multiplex FISH telomere (M-TEL) integrity assay.

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    Popp, Susanne; Schulze, Birgit; Granzow, Martin; Keller, Monika; Holtgreve-Grez, Heidi; Schoell, Brigitte; Brough, Michaela; Hager, Hans-Dieter; Tariverdian, Gholamali; Brown, Jill; Kearney, Lyndal; Jauch, Anna

    2002-07-01

    Cryptic subtelomeric chromosome rearrangements are a major cause of mild to severe mental retardation pointing out the necessity of sensitive screening techniques to detect such aberrations among affected patients. In this prospective study a group of 30 patients with unexplained developmental retardation and dysmorphic features or congenital abnormalities were analysed using the recently published multiplex FISH telomere (M-TEL) integrity assay in combination with conventional G-banding analysis. The patients were selected by one or more of the following criteria defined by de Vries et al.: (a) family history with two or more affected individuals, (b) prenatal onset growth retardation, (c) postnatal growth abnormalities, (d) facial dysmorphic features, (e) non-facial dysmorphism and congenital abnormalities. In addition, we included two patients who met these criteria and revealed questionable chromosome regions requiring further clarification. In four patients (13.3%) cryptic chromosome aberrations were successfully determined by the M-TEL integrity assay and in two patients with abnormal chromosome regions intrachromosomal aberrations were characterized by targetted FISH experiments. Our results accentuate the requirement of strict selection criteria prior to patient testing with the M-TEL integrity assay. Another essential precondition is high-quality banding analysis to identify structural abnormal chromosomes. The detection of familial balanced translocation carriers in 50% of the cases emphasizes the significance of such an integrated approach for genetic counselling and prenatal diagnosis. PMID:12136233

  2. Results of the Ponseti Method in Patients with Clubfoot Associated with Arthrogryposis

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    Morcuende, Jose A.; Dobbs, Matthew B.; Frick, Steven L.

    2008-01-01

    Clubfoot associated with arthrogryposis has been traditionally considered very resistant to manipulation and casting, and therefore has required surgical correction. The purpose of this study was to evaluate the results of the Ponseti method of clubfoot casting in this patient population. We reviewed the records of patients with clubfoot associated with arthrogryposis consecutively treated at our respective institutions from January 1992 to December 2004. All patients were treated by serial m...

  3. Confirmed case of Zika virus congenital infection, Spain, March 2016.

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    Perez, Sonia; Tato, Ruben; Cabrera, Jorge Julio; Lopez, Alberto; Robles, Olga; Paz, Eugenio; Coira, Amparo; Sanchez-Seco, Maria Paz; Vazquez, Ana; Carballo, Raquel; Quintas, Carlos; Pousa, Anxela

    2016-06-16

    We describe Zika virus (ZIKV) vertical transmission in an imported case in Spain, in a 17-week pregnant woman. ZIKV IgG, IgM and RNA were detected in serum in week 17. At 19 weeks, ultrasound scan revealed fetal malformations and ZIKV was detected in the amniotic fluid. Pregnancy was terminated at week 21; autopsy of the fetus revealed bilateral hydrocephalus, brain microcalcifications and arthrogryposis multiplex congenita. ZIKV was detected in the umbilical cord and brain tissue. PMID:27336620

  4. Artrogripozis multipleks konjenitalı bir hastada skolyoz cerrahisi için anestezi

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    Ahmet Yılmaz

    2013-03-01

    Full Text Available Arthrogryposis multiplex congenita is a disease which ischaracterized by congenital multiple joint contractures.This disease with its risks of difficult airway, difficult intravenousaccess and malign hypethermia attack is a challengingcondition for anesthesiologists. In this paper, wereport our anesthetic management experience for scoliosissurgery in a case with arthrogryposis multiplex congenita.J Clin Exp Invest 2013; 4 (1: 113-115Key words: Anesthesia, general; Arthrogryposis; Scoliosis

  5. Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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    Eduardo Felix Martins Santana; Priscila Nogueira Oliveira Serni; Liliam Cristine Rolo; Edward Araujo Júnior

    2014-01-01

    Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled ap...

  6. Prenatal Diagnosis of Arthrogryposis as a Phenotype of Pena-Shokeir Syndrome using Two- and Three-dimensional Ultrasonography

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    Eduardo Felix Martins Santana

    2014-01-01

    Full Text Available Pena-Shokeir syndrome is a rare autosomal recessive disease, characterized by facial anomalies, arthrogryposis, polyhydramnios, fetal growth restriction, and pulmonary hypoplasia. This report describes the findings of this anomaly with two and three-dimensional ultrasound in a female in her 28 th week of pregnancy, who was referred to us because the fetus presented arthrogryposis of unknown cause. These imaging methods allowed adequate evaluation of the fetal malformations and also enabled appropriate counseling of the couple.

  7. Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation

    Science.gov (United States)

    Čulić, Vida; Miyake, Noriko; Janković, Sunčana; Petrović, Davor; Šimunović, Marko; Đapić, Tomislav; Shiina, Masaaki; Ogata, Kazuhiro; Matsumoto, Naomichi

    2016-01-01

    Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression. PMID:27790376

  8. Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

    Science.gov (United States)

    Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I.; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus

    2016-01-01

    Transcriptional signal cointegrators associate with transcription factors or nuclear receptors and coregulate tissue-specific gene transcription. We report on recessive loss-of-function mutations in two genes (TRIP4 and ASCC1) that encode subunits of the nuclear activating signal cointegrator 1 (ASC-1) complex. We used autozygosity mapping and whole-exome sequencing to search for pathogenic mutations in four families. Affected individuals presented with prenatal-onset spinal muscular atrophy (SMA), multiple congenital contractures (arthrogryposis multiplex congenita), respiratory distress, and congenital bone fractures. We identified homozygous and compound-heterozygous nonsense and frameshift TRIP4 and ASCC1 mutations that led to a truncation or the entire absence of the respective proteins and cosegregated with the disease phenotype. Trip4 and Ascc1 have identical expression patterns in 17.5-day-old mouse embryos with high expression levels in the spinal cord, brain, paraspinal ganglia, thyroid, and submandibular glands. Antisense morpholino-mediated knockdown of either trip4 or ascc1 in zebrafish disrupted the highly patterned and coordinated process of α-motoneuron outgrowth and formation of myotomes and neuromuscular junctions and led to a swimming defect in the larvae. Immunoprecipitation of the ASC-1 complex consistently copurified cysteine and glycine rich protein 1 (CSRP1), a transcriptional cofactor, which is known to be involved in spinal cord regeneration upon injury in adult zebrafish. ASCC1 mutant fibroblasts downregulated genes associated with neurogenesis, neuronal migration, and pathfinding (SERPINF1, DAB1, SEMA3D, SEMA3A), as well as with bone development (TNFRSF11B, RASSF2, STC1). Our findings indicate that the dysfunction of a transcriptional coactivator complex can result in a clinical syndrome affecting the neuromuscular system. PMID:26924529

  9. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    Science.gov (United States)

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

  10. Steatocystoma multiplex.

    Science.gov (United States)

    Chu, David H

    2003-10-01

    A 25-year-old man with a 20-year history of asymptomatic nodules on his arms and trunk, which histopathological analysis showed to be consistent with steatocystoma multiplex, is presented. Steatocystoma multiplex is a disorder characterized by multiple, asymptomatic, dermal cysts that usually occur on the trunk and proximal aspects of the extremities. Steatocystoma multiplex with acral predominance has only recently been described. Development of steatocystomas has been hypothesized to be due to alterations in the structure of keratin 17. Treatment for lesions has included surgical excision or drainage, oral retinoids, and liquid nitrogen cryotherapy. PMID:14594591

  11. Mononeuritis multiplex

    Science.gov (United States)

    ... feeling and movement due to problems with specific nerves. Reflexes may be abnormal. To diagnose mononeuritis multiplex, there usually needs to be problems with two or more unrelated nerve areas. Common nerves affected are the: Axillary nerve ...

  12. Artrogripozis Multipleks Konjenita ve Anestezi: Olgu Sunumu ve Literatürün Gözden Geçirilmesi

    OpenAIRE

    Karaman, Serkan; Karaman, Tuğba; Doğru, Serkan; Şahin, Aynur; Tapar, Hakan

    2014-01-01

    Arthrogryposis Multiplex Congenita is a term that describes a  rare congenital syndrome. Clinical features is characterized by  multiple joint contractures that requires recurrent surgical  interventions. Various system anomalies can be associated with this  syndrome. The anesthesia management of a patient with  Arthrogryposis Multiplex Congenita may lead to several challenges  including difficult airway, difficult venous access and malign  hyperthermia. In this case report, we aimed to prese...

  13. Severe spinal muscular atrophy variant associated with congenital bone fractures.

    Science.gov (United States)

    Felderhoff-Mueser, Ursula; Grohmann, Katja; Harder, Anja; Stadelmann, Christine; Zerres, Klaus; Bührer, Christoph; Obladen, Michael

    2002-09-01

    Infantile autosomal recessive spinal muscular atrophy (type I) represents a lethal disorder leading to progressive symmetric muscular atrophy of limb and trunk muscles. Ninety-six percent cases of spinal muscular atrophy type I are caused by deletions or mutations in the survival motoneuron gene (SMNI) on chromosome 5q11.2-13.3. However, a number of chromosome 5q-negative patients with additional clinical features (respiratory distress, cerebellar hypoplasia) have been designated in the literature as infantile spinal muscular atrophy plus forms. In addition, the combination of severe spinal muscular atrophy and neurogenic arthrogryposis has been described. We present clinical, molecular, and autopsy findings of a newborn boy presenting with generalized muscular atrophy in combination with congenital bone fractures and extremely thin ribs but without contractures.

  14. Congenital Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

  15. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  16. [Congenital aniridia].

    Science.gov (United States)

    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.

  17. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  18. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  19. Multiplexity and multireciprocity in directed multiplexes

    CERN Document Server

    Gemmetto, Valerio; Picciolo, Francesco; Ruzzenenti, Franco; Garlaschelli, Diego

    2014-01-01

    In the last few years, the study of multi-layer complex networks has received significant attention. In this work, we provide new measures to analyse dependencies between directed links in different layers of multiplex networks. We show that this requires more than a straightforward extension of the corresponding multiplexity measures that have been developed for undirected multiplexes. In particular, one should take into account the effects of reciprocity, i.e. the tendency of pairs of vertices to establish mutual connections. It is well known that reciprocity is a crucial property of many directed single-layer networks, affecting several dynamical processes taking place on such systems. Here we extend this quantity to directed multiplexes and introduce the notion of multireciprocity, defined as the tendency of links in one layer to be reciprocated by links in a different layer. We introduce multireciprocity measures valid for both binary and weighted networks and then validate these novel quantities on the ...

  20. Unilateral Congenital Knee and Hip Dislocation with Bilateral Clubfoot – A rare Packaging disorder

    Directory of Open Access Journals (Sweden)

    Mukesh Tiwari

    2013-04-01

    Full Text Available ntroduction: Reduced intrauterine space gives rise to ‘packaging disorder’ which may involve joint dislocations or contractures. We present an unique case where mutiple joints were dislocated involving left congenital knee dislocation (CDK, bilateral congenital hip dislocation (CDH and congenital talipes equino varus (CTEVdeformities. Case Report: A preterm baby boy born to mother with diagnosed oligohydramios presented with left CDK bilateral DDH and CTEV. The knee dislocation was treated first with gradual streaching and weekly above knee cast. At 7th week good flexion was achieved at both knees and abduction splint for DDH (using double diaper with ponseti cast for CTEV was done. At one year follow up all joints were reduced and maintained well with baby able to stand with support. Conclusion: Packaging disorders may present with multiple dislocations and deformities. Early intervention with serial casting and manipulation minimises disability and prevents ambulatory problems. In our case there was a good response to manipulation and serial casting. This differs from cases with inherent pathology like arthrogryposis where response to treatment is not so good. Keywords: Congenital genu recurvatum, Develpmental dysplasia hip, CTEV, Clubfoot, serial manipulation, packaging disorders

  1. Weighted Multiplex Networks

    CERN Document Server

    Menichetti, Giulia; Panzarasa, Pietro; Mondragón, Raúl J; Bianconi, Ginestra

    2013-01-01

    One of the most important challenges in network science is to quantify the information encoded in complex network structures. Disentangling randomness from organizational principles is even more demanding when networks have a multiplex nature. Multiplex networks are multilayer systems of $N$ nodes that can be linked in multiple interacting and co-evolving layers. In these networks, relevant information might not be captured if the single layers were analyzed separately. Here we demonstrate that such partial analysis of layers fails to capture significant correlations between weights and topology of complex multiplex networks. To this end, we study two weighted multiplex co-authorship and citation networks involving the authors included in the American Physical Society. We show that in these networks weights are strongly correlated with multiplex structure, and provide empirical evidence in favor of the advantage of studying weighted measures of multiplex networks, such as multistrength and the inverse multipa...

  2. Congenital hypoaldosteronism.

    Science.gov (United States)

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

    2008-08-01

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

  3. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

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

  4. Disease: H00663 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available dermopathy--a lethal congenital laminopathy. Case report and review of the literature. Eur J Pediatr 168:100... form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 43:539-47 (1992) ...

  5. Diagnóstico pré-natal da artrogripose múltipla congênita: relato de caso Prenatal diagnosis of arthrogryposis multiplex congenita: a case report

    OpenAIRE

    Carlos Augusto Alencar Júnior; Francisco Edson de Lucena Feitosa; Mac Gontei; Sammya Bezerra Maia; Dalgimar Beserra de Meneses

    1998-01-01

    A artrogripose múltipla congênita é caracterizada pela presença, ao nascimento, de múltiplas contraturas articulares. O diagnóstico pré-natal é difícil, existindo poucos relatos na literatura. Baseia-se, especialmente, na combinação de acinesia fetal, posição anormal dos membros, retardo de crescimento intra-uterino e polidrâmnio. Descrevemos um caso de artrogripose múltipla congênita diagnosticado pela ultra-sonografia no terceiro trimestre gestacional. Os principais achados foram a ausência...

  6. Multiplex PageRank.

    Science.gov (United States)

    Halu, Arda; Mondragón, Raúl J; Panzarasa, Pietro; Bianconi, Ginestra

    2013-01-01

    Many complex systems can be described as multiplex networks in which the same nodes can interact with one another in different layers, thus forming a set of interacting and co-evolving networks. Examples of such multiplex systems are social networks where people are involved in different types of relationships and interact through various forms of communication media. The ranking of nodes in multiplex networks is one of the most pressing and challenging tasks that research on complex networks is currently facing. When pairs of nodes can be connected through multiple links and in multiple layers, the ranking of nodes should necessarily reflect the importance of nodes in one layer as well as their importance in other interdependent layers. In this paper, we draw on the idea of biased random walks to define the Multiplex PageRank centrality measure in which the effects of the interplay between networks on the centrality of nodes are directly taken into account. In particular, depending on the intensity of the interaction between layers, we define the Additive, Multiplicative, Combined, and Neutral versions of Multiplex PageRank, and show how each version reflects the extent to which the importance of a node in one layer affects the importance the node can gain in another layer. We discuss these measures and apply them to an online multiplex social network. Findings indicate that taking the multiplex nature of the network into account helps uncover the emergence of rankings of nodes that differ from the rankings obtained from one single layer. Results provide support in favor of the salience of multiplex centrality measures, like Multiplex PageRank, for assessing the prominence of nodes embedded in multiple interacting networks, and for shedding a new light on structural properties that would otherwise remain undetected if each of the interacting networks were analyzed in isolation. PMID:24205186

  7. Multiplex gas chromatography

    Science.gov (United States)

    Valentin, Jose R.

    1990-01-01

    The principles of the multiplex gas chromatography (GC) technique, which is a possible candidate for chemical analysis of planetary atmospheres, are discussed. Particular attention is given to the chemical modulators developed by present investigators for multiplex GC, namely, the thermal-desorption, thermal-decomposition, and catalytic modulators, as well as to mechanical modulators. The basic technique of multiplex GC using chemical modulators and a mechanical modulator is demonstrated. It is shown that, with the chemical modulators, only one gas stream consisting of the carrier in combination with the components is being analyzed, resulting in a simplified instrument that requires relatively few consumables. The mechanical modulator demonstrated a direct application of multiplex GC for the analysis of gases in atmosphere of Titan at very low pressures.

  8. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  9. Coevolution and Correlated Multiplexity in Multiplex Networks

    Science.gov (United States)

    Kim, Jung Yeol; Goh, K.-I.

    2013-08-01

    Distinct channels of interaction in a complex networked system define network layers, which coexist and cooperate for the system’s function. Towards understanding such multiplex systems, we propose a modeling framework based on coevolution of network layers, with a class of minimalistic growing network models as working examples. We examine how the entangled growth of coevolving layers can shape the network structure and show analytically and numerically that the coevolution can induce strong degree correlations across layers, as well as modulate degree distributions. We further show that such a coevolution-induced correlated multiplexity can alter the system’s response to the dynamical process, exemplified by the suppressed susceptibility to a social cascade process.

  10. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  11. Multiplexed Biosensors for Mycotoxins.

    Science.gov (United States)

    Maragos, Chris M

    2016-07-01

    Significant progress has been made in the development of biosensors that can be used to detect low-MW toxins produced by fungi (mycotoxins). The number of formats that have been investigated is impressive and is an indication of the importance attached to finding easy-to-use, accurate, and rapid methods for detecting these toxins in commodities and foods. This review explores the details of multiplexed biosensors based on many formats, including multiplexed immunoassays, suspension arrays, membrane-based devices (flow-through and immunochromatographic), and planar microarrays. Each assay format has its own strengths and areas that need improvement. Certain formats, such as multiplexed immunochromatographic devices, are well developed and relatively easy to use, and in some cases, commercial products are being sold. Others, such as the suspension arrays and microarrays, are laboratory-based assays that, although more complicated, are also more amenable to a larger scale of multiplexing. The diversity of such efforts and the multitude of formats under investigation suggest that multiple solutions will be found to satisfy the need for multiplexed toxin detection. PMID:27455928

  12. Functional Multiplex PageRank

    CERN Document Server

    Iacovacci, Jacopo; Arenas, Alex; Bianconi, Ginestra

    2016-01-01

    Recently it has been recognized that many complex social, technological and biological networks have a multilayer nature and can be described by multiplex networks. Multiplex networks are formed by a set of nodes connected by links having different connotations forming the different layers of the multiplex. Characterizing the centrality of the nodes in a multiplex network is a challenging task since the centrality of the node naturally depends on the importance associated to links of a certain type. Here we propose to assign to each node of a multiplex network a centrality called Functional Multiplex PageRank that is a function of the weights given to every different pattern of connections (multilinks) existent in the multiplex network between any two nodes. Since multilinks distinguish all the possible ways in which the links in different layers can overlap, the Functional Multiplex PageRank can describe important non-linear effects when large relevance or small relevance is assigned to multilinks with overl...

  13. Multiplex editing system

    DEFF Research Database (Denmark)

    2015-01-01

    The present invention relates to a multiplex editing system. The system allows multiple editing of nucleic acid sequences such as genomic sequences, such as knockins of genes of interest in a genome, knockouts of genomic sequences and/or allele replacement. Also provided herein are a method...

  14. Multiplex PageRank

    CERN Document Server

    Halu, Arda; Pansaraza, Pietro; Bianconi, Ginestra

    2013-01-01

    Many complex systems can be described as multiplex networks in which the same nodes can interact with one another in different layers, thus forming a set of interacting and co-evolving networks. Examples of such multiplex systems are social networks where people are involved in different types of relationships and interact through various forms of communication media. The ranking of nodes in multiplex networks is one of the most pressing and challenging tasks that research on complex networks is currently facing. When pairs of nodes can be connected through multiple links and in multiple layers, the ranking of nodes should necessarily reflect the importance of nodes in one layer as well as their importance in other interdependent layers. In this paper, we draw on the idea of biased random walks to define the Multiplex PageRank centrality measure in which the effects of the interplay between networks on the centrality of nodes are directly taken into account. In particular, depending on the intensity of the in...

  15. Detection of major genetic causation of Congenital Heart Defect in fetuses by multiplex ligation-dependent probe amplification:a cost-effective method in developing countries.%多重连接依赖的探针扩增技术在检测胎儿先天性心脏病遗传学病因中的应用

    Institute of Scientific and Technical Information of China (English)

    朱湘玉; 茹彤; 朱海燕; 胡娅莉

    2012-01-01

    Objective; To determine the efficiency of multiplex ligation dependent probe amplification (MLPA) in the detection of the major genetic causes of congenital heart defect (CHD). Methods; 34 cord blood were collected from fetuses, who were affected with CHD, detected by ultrasonograph. Karyotyping and MLPA analysis were performed after DNA extraction. Another 32 cases of DNAs which had been tested previously were also analyzed with the present MLPA kit. Among these 32 cases, trisomy - 13, 16, 18, 21, and trisomy - 21 with microduplication 22ql 1, microdeletion and microduplication of 22ql 1 were included. Results; Of all the 66 cases, all the trisomies of chromosome 13 (3 cases) , 18 (7 cases) and 21 ( 10 cases of trisomy -21 and 1 case of trisomy -21 with microduplication 22ql 1) were detected by the present MLPA kit. Results: Of the five cases of known 22ql 1 deletion (3 megabases) were anastomotic in the size of deletion. In the 34 new cases, two additional cases of 22ql 1 deletion (3 megabases) were detected and proved by MLPA - P250 kit subsequently. Five case of trisomy - 16 and one case of 69, XXX and one case of balanced translocation were suggested as normal by MLPA. Conclusion; MLPA could detect common trisomies and microdeletion or microduplication that may cause CHD.%目的 探讨多重连接依赖的探针扩增技术(MLPA)用于检测胎儿先天性心脏病遗传学病因的可行性.方法 2006年11月至2009年12月间,共收集34例超声发现为先天性心脏病胎儿的脐血进行染色体核型分析,同时提取脐血淋巴细胞DNA后进行MLPA检测.选取先前已进行核型分析及MLPA确诊的32例标本作为对照,其中包括13-三体、16-三体、18-三体、21-三体、21-三体合并22q11微扩增以及不同范围的22q11微扩增或微缺失.结果 66例标本中,本实验所用的MLPA探针共检出3例13-三体、7例18-三体、10例21-三体、1例21-三体合并22q11微扩增.5例22q11微缺失的缺失

  16. Extracting information from multiplex networks

    Science.gov (United States)

    Iacovacci, Jacopo; Bianconi, Ginestra

    2016-06-01

    Multiplex networks are generalized network structures that are able to describe networks in which the same set of nodes are connected by links that have different connotations. Multiplex networks are ubiquitous since they describe social, financial, engineering, and biological networks as well. Extending our ability to analyze complex networks to multiplex network structures increases greatly the level of information that is possible to extract from big data. For these reasons, characterizing the centrality of nodes in multiplex networks and finding new ways to solve challenging inference problems defined on multiplex networks are fundamental questions of network science. In this paper, we discuss the relevance of the Multiplex PageRank algorithm for measuring the centrality of nodes in multilayer networks and we characterize the utility of the recently introduced indicator function Θ ˜ S for describing their mesoscale organization and community structure. As working examples for studying these measures, we consider three multiplex network datasets coming for social science.

  17. Genetics of congenital hypothyroidism

    OpenAIRE

    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 causin...

  18. Radiological case: congenital scoliosis

    OpenAIRE

    Macedo, F.

    2010-01-01

    ABSTRACT We present a case of a two month old infant with clinical suspicion of congenital torticollis because of lateral flexion of the head and neck since birth. There was no response to physiotherapy and the neck ultrasound was normal. An x-ray of the cervical and dorsal spine showed congenital scoliosis with failure of formation in certain vertebras. The diagnosis of congenital scoliosis must be considered in cases of abnormal tilting of the head and neck.

  19. Multiplexing oscillatory biochemical signals.

    Science.gov (United States)

    de Ronde, Wiet; ten Wolde, Pieter Rein

    2014-04-01

    In recent years it has been increasingly recognized that biochemical signals are not necessarily constant in time and that the temporal dynamics of a signal can be the information carrier. Moreover, it is now well established that the protein signaling network of living cells has a bow-tie structure and that components are often shared between different signaling pathways. Here we show by mathematical modeling that living cells can multiplex a constant and an oscillatory signal: they can transmit these two signals simultaneously through a common signaling pathway, and yet respond to them specifically and reliably. We find that information transmission is reduced not only by noise arising from the intrinsic stochasticity of biochemical reactions, but also by crosstalk between the different channels. Yet, under biologically relevant conditions more than 2 bits of information can be transmitted per channel, even when the two signals are transmitted simultaneously. These observations suggest that oscillatory signals are ideal for multiplexing signals. PMID:24685537

  20. Analysis and Research of Multiplexing System

    Institute of Scientific and Technical Information of China (English)

    郭惠玲; 王仝杰; 刘越男

    2001-01-01

    The development of optical transmission was summarized. The multiplexing system was show in detail. The concepts, characteristic, key technology, expand trend and application prospect of frequency-division multiplexing, time-division multiplexing, code-division multiplexing and wave-division multiplexing were illustrated.

  1. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik;

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia i...

  2. Congenital Hepatic Fibrosis

    Directory of Open Access Journals (Sweden)

    MH Antikchi

    2010-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.

  3. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  4. Clustering Coefficients in Multiplex Networks

    CERN Document Server

    Cozzo, Emanuele; De Domenico, Manlio; Solé, Albert; Arenas, Alex; Gómez, Sergio; Porter, Mason A; Moreno, Yamir

    2013-01-01

    Recent advances in the study of complex networked systems has highlighted that our interconnected world is made of networks that are coupled together through different layers that each stand for one type of interaction or system. Despite this situation, it is traditional to aggregate multiplex data into a single weighted network in order take advantage of existing tools. This is admittedly convenient, but it is also extremely problematic. In this paper, we generalize the concept of clustering coefficients for multiplex networks. We show how the layered structure of multiplex networks introduces a new degree of freedom that has a fundamental effect on transitivity. We compute our new multiplex clustering coefficients for several real multiplex networks and illustrate why generalizing monoplex concepts to multiplex networks must be done with great care.

  5. Extracting Information from Multiplex Networks

    CERN Document Server

    Iacovacci, Jacopo

    2016-01-01

    Multiplex networks are generalized network structures that are able to describe networks in which the same set of nodes are connected by links that have different connotations. Multiplex networks are ubiquitous since they describe social, financial, engineering and biological networks as well. Extending our ability to analyze complex networks to multiplex network structures increases greatly the level of information that is possible to extract from Big Data. For these reasons characterizing the centrality of nodes in multiplex networks and finding new ways to solve challenging inference problems defined on multiplex networks are fundamental questions of network science. In this paper we discuss the relevance of the Multiplex PageRank algorithm for measuring the centrality of nodes in multilayer networks and we characterize the utility of the recently introduced indicator function $\\widetilde{\\Theta}^{S}$ for describing their mesoscale organization and community structure. As working examples for studying thes...

  6. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  7. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

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

    1986-01-01

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

  8. Congenital myasthenia gravis.

    Science.gov (United States)

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

    2013-07-01

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

  9. 多重连接探针扩增技术在先天性心脏病22q11微缺失/微重复综合征诊断中的应用%Diagnosis of 22q11 deletion and duplication in congenital heart disease by multiplex iigation-dependent probe amplification

    Institute of Scientific and Technical Information of China (English)

    杨月华; 茹彤; 王志群; 胡娅莉; 朱湘玉; 莫绪明; 王东进; 姚金翠; 盛敏; 朱海燕; 李洁

    2009-01-01

    目的 染色体22q11区域基因拷贝数异常是先天性心脏病(CHD)的遗传病因之一,由其引起的CHD预后不良.该研究主要探讨多重连接探针扩增技术用于CHD 22q11微缺失或微重复遗传病因诊断的实用性,并了解22q11微缺失或微重复在CHD中的发生情况.方法 选择25个位于染色体22q11低重复拷贝序列A-H区域内、7个位于其周围(CES、22q13)和16个位于4、8、10、17号染色体上的基因位点共计48个探针组成多重连接探针,对181例外科手术前的CHD儿童和14例严重CHD或包括CHD的多发性畸形胎儿进行了22q11微缺失或微重复的检测,并进行了染色体核型分析.结果 195例患儿中,共检出22q11微缺失者7例(LCR A-D区6例,LCR A-C区1例),22q11微重复1例(LCR B-D区),涉及的CHD类犁包括室间隔缺损、房室间隔缺损、肺动脉狭窄和法洛四联征.同时染色体核型分析还发现了6例异常:1例21q部分缺失[46,XY,21q-],1例嵌合性8-三体[47,XY,+8/46,XY(1:2)],4例21-三体.其中1例21-三体与22q11微重复同时存在.结论 染色体22q11区域高密度多重连接探针检测技术能快速、灵敏、精确定位诊断染色体22q11区域基因拷贝数异常,适合于CHD的遗传学诊断;此外,22q11微缺失或微重复引起的CHD类型多种多样,建议所有CHD患者应常规进行遗传学检测.%Objective To investigate the clinical utility of multiplex ligation-dependent probe amplification ( MLPA) for detecting 22q11 deletion and duplication in congenital heart disease (CHD) cases and to study the incidence of 22q11 deletion and duplicaton in different kinds of CHD. Methods Forty-eight probes of which 25 located in 22q11 low copy number region ( LCR 22s A-H) , 7 in 22q11 surrounding region (CKS, 22q13) and 16 in chromosomes 4,8, 10 and 17 were selected to detect 22q11 deletion and duplication in 181 preoperative children with CHD and 14 fetuses with serious CHD or CHD with multiple malformations. In these

  10. Congenital heart disease

    Science.gov (United States)

    ... blood sugar level. Certain genes may play a role in congenital heart disease. Many family members may be affected. Talk to your provider about genetic counseling and screening if you have a family history ...

  11. Congenital lobar emphysema

    Science.gov (United States)

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

    2016-01-01

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

  12. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  13. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  14. Congenital hyperinsulinism in Ukraine

    DEFF Research Database (Denmark)

    Globa, E.; Zelinska, N.; Flanagan, S.;

    2015-01-01

    Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine. Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI. Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testi...

  15. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  16. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  17. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls) with congenital ocular motor apraxia (COMA) are reviewed by researchers at Tottori University, Yonago, Japan.

  18. Congenital histiocytosis X

    International Nuclear Information System (INIS)

    Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neanatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells. Congenital histiocytosis X is a rare form of Langerhans cell histiocytosis. We report on an infant with congenital histiocytosis X who died within 10 days of birth due to diffuse infiltration of multiple organ systems with Langerhans histiocytic cells. To our knowledge, this is the first case of the radiographic illustration of progressive lung involvement in an infant with histiocytosis X. (orig.)

  19. Highspeed multiplexed heterodyne interferometry.

    Science.gov (United States)

    Isleif, Katharina-S; Gerberding, Oliver; Köhlenbeck, Sina; Sutton, Andrew; Sheard, Benjamin; Goßler, Stefan; Shaddock, Daniel; Heinzel, Gerhard; Danzmann, Karsten

    2014-10-01

    Digitally enhanced heterodyne interferometry is a metrology technique that uses pseudo-random noise codes for modulating the phase of the laser light. Multiple interferometric signals from the same beam path can thereby be isolated based on their propagation delay, allowing one to use advantageous optical layouts in comparison to classic laser interferometers. We present here a high speed version of this technique for measuring multiple targets spatially separated by only a few centimetres. This allows measurements of multiplexed signals using free beams, making the technique attractive for several applications requiring compact optical set-ups like for example space-based interferometers. In an experiment using a modulation and sampling rate of 1.25 GHz we are able to demonstrate multiplexing between targets only separated by 36 cm and we achieve a displacement measurement noise floor of <3 pm/√Hz at 10 Hz between them. We identify a limiting excess noise at low frequencies which is unique to this technique and is probably caused by the finite bandwidth in our measurement set-up. Utilising an active clock jitter correction scheme we are also able to reduce this noise in a null measurement configuration by one order of magnitude. PMID:25322043

  20. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  1. Congenital chylous ascites

    OpenAIRE

    Romańska-Kita, Justyna; Borszewska-Kornacka, Maria Katarzyna; Dobrzańska, Anna; Rudzińska, Iwona; Czech-Kowalska, Justyna; Wawrzoniak, Tomasz

    2011-01-01

    Summary Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity.

  2. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

    Full Text Available Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  3. Portable Multiplex Pathogen Detector

    Energy Technology Data Exchange (ETDEWEB)

    Visuri, S; McBride, M T; Matthews, D; Rao, R

    2002-07-15

    Tumor marker concentrations in serum provide useful information regarding clinical stage and prognosis of cancer and can thus be used for presymptomatic diagnostic purposes. Currently, detection and identification of soluble analytes in biological fluids is conducted by methods including bioassays, ELISA, PCR, DNA chip or strip tests. While these technologies are generally sensitive and specific, they are time consuming, labor intensive and cannot be multiplexed. Our goal is to develop a simple, point-of-care, portable, liquid array-based immunoassay device capable of simultaneous detection of a variety of cancer markers. Here we describe the development of assays for the detection of Serum Prostate Specific Antigen, and Ovalbumin from a single sample. The multiplexed immunoassays utilize polystyrene microbeads. The beads are imbedded with precise ratios of red and orange fluorescent dyes yielding an array of 100 beads, each with a unique spectral address (Figure 1). Each bead can be coated with capture antibodies specific for a given antigen. After antigen capture, secondary antibodies sandwich the bound antigen and are indirectly labeled by the fluorescent reporter phycoerythrin (PE). Each optically encoded and fluorescently-labeled microbead is then individually interrogated. A red laser excites the dye molecules imbedded inside the bead and classifies the bead to its unique bead set, and a green laser quantifies the assay at the bead surface. This technology has been proven to be comparable to the ELISA in terms of sensitivity and specificity. We also describe the laser-based instrumentation used to acquire fluorescent bead images Following the assay, droplets of bead suspension containing a mixture of bead classes were deposited onto filters held in place by a disposable plexiglass device and the resultant arrays viewed under the fluorescent imaging setup. Using the appropriate filter sets to extract the necessary red, orange and green fluorescence from the

  4. Diffusion dynamics on multiplex networks

    CERN Document Server

    Gomez, S; Gomez-Gardeñes, J; Perez-Vicente, C J; Moreno, Y; Arenas, A

    2012-01-01

    We study the time scales associated to diffusion processes that take place on multiplex networks (a set of networks structured in interconnected layers). To this end we propose the construction of a supra-Laplacian matrix, which consists of a dimensional lifting of the Laplacian matrix of each layer of the multiplex network. We use perturbative analysis to reveal analytically the structure of eigenvectors and eigenvalues of the complete network in terms of the spectral properties of the individual layers. The spectrum of the supra-Laplacian allows us to understand the physics of diffusion-like processes on top of multiplex networks.

  5. Percolation in real multiplex networks

    CERN Document Server

    Bianconi, Ginestra

    2016-01-01

    We present an exact mathematical framework able to describe site-percolation transitions in real multiplex networks. Specifically, we consider the average percolation diagram valid over an infinite number of random configurations where nodes are present in the system with given probability. The approach relies on the locally treelike ansatz, so that it is expected to accurately reproduce the true percolation diagram of sparse multiplex networks with negligible number of short loops. The performance of our theory is tested in social, biological, and transportation multiplex graphs. When compared against previously introduced methods, we observe improvements in the prediction of the percolation diagrams in all networks analyzed. Results from our method confirm previous claims about the robustness of real multiplex networks, in the sense that the average connectedness of the system does not exhibit any significant abrupt change as its individual components are randomly destroyed.

  6. Bond percolation on multiplex networks

    CERN Document Server

    Hackett, A; Gómez, S; Arenas, A; Gleeson, J P

    2015-01-01

    We present an analytical approach for bond percolation on multiplex networks and use it to determine the expected size of the giant connected component and the value of the critical bond occupation probability in these networks. We advocate the relevance of these tools to the modeling of multilayer robustness and contribute to the debate on whether any benefit is to be yielded from studying a full multiplex structure as opposed to its monoplex projection, especially in the seemingly irrelevant case of a bond occupation probability that does not depend on the layer. Although we find that in many cases the predictions of our theory for multiplex networks coincide with previously derived results for monoplex networks, we also uncover the remarkable result that for a certain class of multiplex networks, well described by our theory, new critical phenomena occur as multiple percolation phase transitions are present. We provide an instance of this phenomenon in a multipex network constructed from London rail and Eu...

  7. Congenital Cataract Screening.

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  8. Congenital tracheobronchial stenosis.

    Science.gov (United States)

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

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

  9. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  10. Congenital Cataract Screening

    Science.gov (United States)

    Rajavi, Zhale; Sabbaghi, Hamideh

    2016-01-01

    Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year) is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender. PMID:27621790

  11. 铰链式外固定支架在治疗肘关节骨折术后僵硬中的应用%Application of Hinged External Fixator in the Treatment of Arthrogryposis of the Elbow

    Institute of Scientific and Technical Information of China (English)

    姜岳武; 毛兆光; 郭亮; 夏欣

    2014-01-01

    [目的]分析比较不同术式治疗肘关节骨折术后僵硬的临床疗效。[方法]2005年2月~2012年6月间43例肘部骨折术后继发关节强直僵硬患者,随机分为2组,其中应用铰链式外固定支架行肘关节松解术者23例为A组,常规肘关节松解者20例为B组。治疗后随访12~26个月,以关节活动度及肘关节功能评分评价疗效,并观察2组并发症发生情况。[结果]治疗后随访12~26个月,A组肘关节平均屈伸活动度达116.5度,肘关节功能评分85.7分;B组肘关节平均屈伸活动度达75.3度,肘关节功能评分61.5分,2组比较差异均有统计学意义(P<0.05)。术后并发症尺神经损伤B组2例,A组无;术后切口感染、皮下血肿、切口愈合不良B组3例,A组无。[结论]采用铰链外固定支架松解术治疗创伤后肘关节僵硬疗效显著,可有效增加僵硬肘关节的活动度及改善关节功能,并减少术后并发症的发生。%[Objective]To review the treatment of 23 cases of elbow arthrogryposis, summarize the experience of the treatment for elbow arthrogryposis releasing and application of hinged external fixator. [Methods] 23 cases of patients with elbow arthrogryposis underwent elbow arthrogryposis releasing and application of hinged external fixation. [Results]The patients with elbow flexion group mean maximum flexion improved from preoperative 20.1 ° to 110.2° after operation, limited group of patients mean maximum extension activity from preoperative 74.5 ° to 22.2° after operation, both flexion and extension in limited group, respectively from preoperative 45.3° and 52° degrees for the improvement of postoperative 20.2° and 100.2°. [Conclusion] With significant effect on treating the post-traumatic elbow arthrogryposis, the technique of treatment elbow arthrogryposis with Hinged external fixator also effectively increased the elbow maximum flexion activity as wel as elbow extension activity.

  12. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  13. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  14. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  15. Congenital preduodenal portal vein

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Jin; Hwang, Mi Soo; Huh, Young Soo; Park, Bok Hwan [College of Medicine, Youngnam University, Gyeongsan (Korea, Republic of)

    1991-03-15

    Congenital preduodenal portal vein, first reported by Knight in 1921, is an extremely rare congenital anomaly in which the portal vein passes anteriorly to the duodenum rather than posteriorly in its normal location. It is of surgical significance because it may cause difficulties in operations involving the gall bladder, biliary duct, or duodenum. Recently, we experienced 2 cases of preduodenal portal vein. One was found during surgical exploration for the diagnosis and correction of malrotation of the bowels and the other in a 3 day-old male newborn associated with dextrocardia, situs inversus, and duodenal obstruction by diaphragm. We report these 2 cases with a review of the literature.

  16. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  17. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  18. Congenital Pulmonary Alveolar Proteinosis

    Directory of Open Access Journals (Sweden)

    Saber Hammami

    2013-01-01

    Full Text Available Pulmonary alveolar proteinosis (PAP is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the current standard treatment for PAP patients. We report a new congenital case of PAP.

  19. Congenital syphilis in the newborn.

    OpenAIRE

    Chawla, V.; Pandit, P B; Nkrumah, F K

    1988-01-01

    We studied 53 newborn babies with congenital syphilis. The common clinical features seen were low birth weight, hepatosplenomegaly, anaemia, jaundice, and symmetrical superficial desquamation of the skin affecting palms and soles. The presence of these clinical signs is highly suggestive of early congenital syphilis. Hydrops fetalis without rhesus or ABO isoimmunisation should always arouse the suspicion of congenital syphilis.

  20. Congenital temporal triangular alopecia.

    OpenAIRE

    Bargman, H

    1984-01-01

    Congenital temporal triangular alopecia is a form of nonscarring alopecia that, as its name suggests, is present at birth. Four cases are reported. One patient underwent hair transplantation, which was successful and might be useful in other patients. Cases occurring in a father and his son suggest for the first time a genetic link.

  1. Congenital CMV Infection

    Science.gov (United States)

    ... infect the baby. This can happen when a pregnant woman experiences a first-time infection, a reinfection with a different CMV strain (variety), ... passed their newborn hearing test. Diagnosis Congenital CMV ... newborn baby’s saliva, urine, or blood. Such specimens must be collected for ...

  2. CONGENITAL PATELLA LUXATION

    OpenAIRE

    Cakmak, Mehmet; Taser, Omer; Domanic, Unsal; Temelli, Yener; Karamehmetoglu, Mahmut

    2004-01-01

    Five cases of congenital patella luxation which is rarely seen, have been presented. The diagnosis and treatment problems of this disease have been discussed in our cases with literature on the subject. It was concluded the method of the plastic of Williams-Picat quadriceps performed in the unification with the method of Krogius is the most appropriate form of treatment.

  3. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  4. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  5. Congenital Heart Information Network

    Science.gov (United States)

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

  6. Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Sanjay Sharma

    2008-01-01

    Full Text Available Lumbar hernia is a rare hernia. It constitutes less than one percent of all abdominal hernias. It can becongenital or acquired. Acquired can occur either spontaneously or after surgery or trauma. Only 300cases of lumbar hernia are reported till date. We report a case of congenital lumbar hernia in one month oldmale baby

  7. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  8. Efficient exploration of multiplex networks

    Science.gov (United States)

    Battiston, Federico; Nicosia, Vincenzo; Latora, Vito

    2016-04-01

    Efficient techniques to navigate networks with local information are fundamental to sample large-scale online social systems and to retrieve resources in peer-to-peer systems. Biased random walks, i.e. walks whose motion is biased on properties of neighbouring nodes, have been largely exploited to design smart local strategies to explore a network, for instance by constructing maximally mixing trajectories or by allowing an almost uniform sampling of the nodes. Here we introduce and study biased random walks on multiplex networks, graphs where the nodes are related through different types of links organised in distinct and interacting layers, and we provide analytical solutions for their long-time properties, including the stationary occupation probability distribution and the entropy rate. We focus on degree-biased random walks and distinguish between two classes of walks, namely those whose transition probability depends on a number of parameters which is extensive in the number of layers, and those whose motion depends on intrinsically multiplex properties of the neighbouring nodes. We analyse the effect of the structure of the multiplex network on the steady-state behaviour of the walkers, and we find that heterogeneous degree distributions as well as the presence of inter-layer degree correlations and edge overlap determine the extent to which a multiplex can be efficiently explored by a biased walk. Finally we show that, in real-world multiplex transportation networks, the trade-off between efficient navigation and resilience to link failure has resulted into systems whose diffusion properties are qualitatively different from those of appropriately randomised multiplex graphs. This fact suggests that multiplexity is an important ingredient to include in the modelling of real-world systems.

  9. Helicity multiplexed broadband metasurface holograms.

    Science.gov (United States)

    Wen, Dandan; Yue, Fuyong; Li, Guixin; Zheng, Guoxing; Chan, Kinlong; Chen, Shumei; Chen, Ming; Li, King Fai; Wong, Polis Wing Han; Cheah, Kok Wai; Pun, Edwin Yue Bun; Zhang, Shuang; Chen, Xianzhong

    2015-01-01

    Metasurfaces are engineered interfaces that contain a thin layer of plasmonic or dielectric nanostructures capable of manipulating light in a desirable manner. Advances in metasurfaces have led to various practical applications ranging from lensing to holography. Metasurface holograms that can be switched by the polarization state of incident light have been demonstrated for achieving polarization multiplexed functionalities. However, practical application of these devices has been limited by their capability for achieving high efficiency and high image quality. Here we experimentally demonstrate a helicity multiplexed metasurface hologram with high efficiency and good image fidelity over a broad range of frequencies. The metasurface hologram features the combination of two sets of hologram patterns operating with opposite incident helicities. Two symmetrically distributed off-axis images are interchangeable by controlling the helicity of the input light. The demonstrated helicity multiplexed metasurface hologram with its high performance opens avenues for future applications with functionality switchable optical devices. PMID:26354497

  10. Fiber Laser Based Multiplexed Sensing System

    Institute of Scientific and Technical Information of China (English)

    Jian-Hua Luo; Bo Liu; Hai-Bin Zhou; Hao Zhang; Shao-Lin Yan

    2008-01-01

    A laser sensing system based on beat frequency demodulation is proposed. The sensor uses a single-longitudinal-mode distributed Bragg reflector (DBR) fiber laser as a sensing element. This laser sensor has great multiplexing capability due to its wide free spectral range. Wavelength-division-multiplex (WDM) and frequency-division-multiplex (FDM) techniques are studied. The sensing system has high sensitivity and multiplexing channels.

  11. Turing patterns in multiplex networks

    Science.gov (United States)

    Asllani, Malbor; Busiello, Daniel M.; Carletti, Timoteo; Fanelli, Duccio; Planchon, Gwendoline

    2014-10-01

    The theory of patterns formation for a reaction-diffusion system defined on a multiplex is developed by means of a perturbative approach. The interlayer diffusion constants act as a small parameter in the expansion and the unperturbed state coincides with the limiting setting where the multiplex layers are decoupled. The interaction between adjacent layers can seed the instability of a homogeneous fixed point, yielding self-organized patterns which are instead impeded in the limit of decoupled layers. Patterns on individual layers can also fade away due to cross-talking between layers. Analytical results are compared to direct simulations.

  12. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

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

    2014-09-01

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

  13. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  14. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen;

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  15. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  16. On-chip multiplexing conversion between wavelength division multiplexing-polarization division multiplexing and wavelength division multiplexing-mode division multiplexing.

    Science.gov (United States)

    Ye, Mengyuan; Yu, Yu; Zou, Jinghui; Yang, Weili; Zhang, Xinliang

    2014-02-15

    A compact silicon-on-insulator device used for conversions between polarization division multiplexing (PDM) and mode division multiplexing (MDM) signals is proposed and experimentally demonstrated by utilizing a structure combining the improved two-dimensional grating coupler and two-mode multiplexer. The detailed design of the proposed device is presented and the results show the extinction ratio of 16 and 20 dB for X- and Y-pol input, respectively. The processing of 40  Gb/s signal is achieved within the C-band with good performance. The proposed converter is capable of handling multiple wavelengths in wavelength division multiplexing (WDM) networks, enabling the conversions between WDM-PDM and WDM-MDM, which is promising to further increase the throughput at the network interface. PMID:24562199

  17. Congenital nasal lipoma

    International Nuclear Information System (INIS)

    The authors describe a rare case of congenital lipoma of a nose and nasopharynx in a 7 months old girl. The tumor, about 7 x 2 cm was situated in the right nasal cavity and the nasopharynx. The tumor caused complete obstruction of the right side of the nose. After CT diagnosis the tumor was excised from intranasal approach. Histological examination disclosed lipoma. The duration of follow up was 10 months without any sight of recurrence. (author)

  18. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  19. Congenital Triangular Alopecia

    OpenAIRE

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

    Congenital triangular alopecia (CTA) also known as temporal triangular alopecia is a benign noncicatricial pattern of hair loss. It typically affects the frontotemporal region and rarely involves the temporoparietal or occipital scalp. It is a nonprogressive disorder that presents as a triangular, oval or lancet-shaped patch of alopecia. CTA can manifest at birth or develop later in life. The exact etiology of this condition remains unknown. Rarely, it may be associated with other disorders s...

  20. Congenital Pulmonary Alveolar Proteinosis

    OpenAIRE

    Saber Hammami; Khaled Harrathi; Khaled Lajmi; Samir Hadded; Chebil Ben Meriem; Mohamed Néji Guédiche

    2013-01-01

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome characterized by pulmonary surfactant accumulation within the alveolar spaces. It occurs with a reported prevalence of 0.1 per 100,000 individuals. Two clinically different pediatric types have been defined as congenital PAP which is fatal and a late-onset PAP which is similar to the adult form and less severe. The clinical course of PAP is variable, ranging from spontaneous remission to respiratory failure. Whole-lung lavage is the curr...

  1. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  2. Congenital Cleft Hand

    OpenAIRE

    Aritamur, Ayhan; Cakmak, Mehmet; Taser, Omer; Berk, Hasan

    2004-01-01

    Congenital cleft hand deformity, which is also known with such names as cleft hand, lobster claw hand and Ectrodactyiy, is characterized by the absence of one or two fingers in the mid portion of the hand. A case of bilateral cleft hand deformity four years old, which is considerabiy rare, was reconstructed surgically. The result obtained has been presented. Because no sufficient experience has accumulated due to the fact that it is observed considerably rare, the therapeutical principales re...

  3. Congenital syphilis surveillance

    OpenAIRE

    Antonella Marangoni; Alessandra Moroni; Elisabetta Tridapalli; Maria Grazia Capretti; Antonietta D’Antuono; Marina Biagi; Sanzio Ruscello; Franca Savioli; Roberto Cevenini

    2011-01-01

    Congenital syphilis (CS) is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was...

  4. CONGENITAL DUODENAL OBSTRUCTIONS

    Directory of Open Access Journals (Sweden)

    S.G. Aprodu

    2005-07-01

    Full Text Available The purpose of this study is to analyze a cohort of 46 cases of congenital duodenal obstruction, operated on between 1996 and 2002, 23 of them being diagnosed in neonatal period. In one case, the diagnosis was made antenatally, by ultrasonography. There were 15 males and 8 females, 17 with duodenal atresia and 6 with duodenal diaphragmatic stenosis. Surgery was performed in all cases, consisting in lateral duodeno-duodenal anastomosis in 5 cases and "diamond-shape" duodeno-duodenal anastomosis in 18 cases. The survival rate in this study was 69.5%. 12 cases (52,1% had other congenital pathologies: trisomy 21 (6 cases, multiple ileal atresia (2 cases, dextrocardy (2 cases, omphalocel (1 case, situs inversus (1 case. The complications of surgery were: anastomotic leaking with peritonitis, biliary fistula, intestional adhesions with occlusion. Congenital duodenal obstruction (midgut volvulus, atresia, stenosis remains a challenging issue for pediatric surgeons, especially in our country, due to limited possibilities of quick diagnosis and treatment of associated anomalies.

  5. Congenital agenesis of seminal vesicle

    Institute of Scientific and Technical Information of China (English)

    Hong-Fei Wu; Di Qiao; Li-Xin Qian; Ning-Hong Song; Ning-Han Feng; Li-Xin Hua; Wei Zhang

    2005-01-01

    Congenital agenesis of the seminal vesicle (CASV) is frequently associated with congenital absence of the vas deferens (CAVD) or ipsilateral congenital vasoureteral communication. We reported two cases of a rare condition that the vas deferens open ectopically into Mullerian duct cyst associated with agenesis of the ipsilateral seminal vesicle. The diagnosis was confirmed by vasography. Transurethral unroofing of the Mullerian duct cyst was performed in both patients with favourable results, however, assisted reproductive technology (ART) was still necessary for them to father children.

  6. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  7. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Home Health Conditions critical congenital heart disease critical congenital heart disease Enable Javascript to view the expand/collapse boxes. Print All Open All Close All Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  8. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... Home Health Conditions severe congenital neutropenia severe congenital neutropenia Enable Javascript to view the expand/collapse boxes. ... PDF Open All Close All Description Severe congenital neutropenia is a condition that causes affected individuals to ...

  9. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Genetics Home Health Conditions congenital leptin deficiency congenital leptin deficiency Enable Javascript to view the expand/collapse ... Print All Open All Close All Description Congenital leptin deficiency is a condition that causes severe obesity ...

  10. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... Health Conditions Fukuyama congenital muscular dystrophy Fukuyama congenital muscular dystrophy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Fukuyama congenital muscular dystrophy is an inherited condition that predominantly affects the ...

  11. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2015-10-26

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

  12. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  13. Congenital acute megakaryocytic leukemia

    Directory of Open Access Journals (Sweden)

    N B Mathur

    2011-01-01

    Full Text Available Congenital leukemia (CL is an extremely rare disorder in the newborn, significant proportion of which is of myeloid origin, primarily of M4 or M5 morphology. As compared to pediatric leukemia, CL is a more aggressive disease. Acute myeloid leukemia (AML-M7 or acute megakaryocytic leukemia is a rare type of AML with an incidence of 0.5 per million per year. Median age of presentation is 6 years, and children may present with a broad variety of symptoms including low-grade fever, diarrhea, easy bruising, failure to gain weight and life-threatening conditions.

  14. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

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

  15. Congenital anterior urethral diverticulum.

    Science.gov (United States)

    Singh, Sanjeet Kumar; Ansari, Ms

    2014-09-01

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

  16. Congenital granular cell epulis.

    Science.gov (United States)

    Conrad, Rachel; Perez, Mia C N

    2014-01-01

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

  17. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: 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.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  18. Identification of respiratory virus in infants with congenital heart disease by comparison of different methods

    Directory of Open Access Journals (Sweden)

    Tatiana Mitiko Kanashiro

    2011-10-01

    Full Text Available Respiratory virus infections are the main cause of infant hospitalization and are potentially severe in children with congenital heart disease (CHD. Rapid and sensitive diagnosis is very important to early introduction of antiviral treatment and implementation of precautions to control transmission, reducing the risk of nosocomial infections. In the present study we compare different techniques in the diagnosis of respiratory viruses in CHD infants. Thirty-nine samples of nasopharyngeal aspirate were obtained from CHD infants with symptoms of respiratory infection. The Multiplex PCR (Seeplex® RV 12 ACE Detection driven to the detection of 12 respiratory viruses was compared with the direct immunofluorescence assay (DFA and PCR, both targeting seven respiratory viruses. The positivity found by DFA, Multiplex and PCR was 33.3%, 51.3% and 48.7%, respectively. Kappa index comparing DFA and Multiplex, DFA and PCR and PCR and Multiplex PCR was 0.542, 0.483 and 0.539, respectively. The concordance between techniques was considered moderate. Both Multiplex PCR (p = 0.001 and PCR (p = 0.002 detected significantly more respiratory virus than DFA. As the performance of the tests may vary, the combination of two or more techniques may increase diagnostic sensitivity favoring the diagnosis of co-infections, early introduction of antiviral therapy and implementation of appropriate measures.

  19. Analysis of spatial domain multiplexing/space division multiplexing (SDM) based hybrid architectures operating in tandem with wavelength division multiplexing

    Science.gov (United States)

    Murshid, Syed; Lovell, Greg; Chowdhury, Bilas; Hridoy, Arnob; Parhar, Gurinder; Chakravarty, Abhijit; Alanzi, Saud

    2014-09-01

    Spatial domain multiplexing (SDM) also known as space division multiplexing adds a new degree of photon freedom to existing optical fiber multiplexing techniques by allocating separate radial locations to different MIMO channels as a function of the input launch angle. These independent MIMO channels remain confined to the designated location while traversing the length of the carrier fiber, due to helical propagation of light inside the fiber core. The SDM technique can be used in tandem with other multiplexing techniques, such as time division multiplexing (TDM), and wavelength division multiplexing in hybrid optical communication schemes, to achieve higher optical fiber bandwidth by increasing the photon efficiency due to added degrees of photon freedom. This paper presents the feasibility of a novel hybrid optical fiber communications architecture and shows that SDM channels of different operating wavelengths continue to follow the input launch angle based radial distribution pattern.

  20. [Genetics of congenital deafness].

    Science.gov (United States)

    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.

  1. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia

    2015-01-01

    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  2. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

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

  3. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  4. Wavelength-multiplexed entanglement distribution

    Science.gov (United States)

    Lim, Han Chuen; Yoshizawa, Akio; Tsuchida, Hidemi; Kikuchi, Kazuro

    2010-08-01

    The realization of an entanglement distribution optical fiber network connecting multiple parties would permit implementation of many information security applications such as entanglement-based quantum key distribution and quantum secret sharing. However, due to material absorption and scattering in optical fiber, photons that are the carriers of quantum entanglement experience loss during propagation and the overall photon arrival rate can be very low in such a network. One way to increase photon arrival rate is to make full use of the available transmission bandwidth of optical fiber and this is achievable via wavelength-multiplexing. We review our recent work on wavelength-multiplexed entanglement distribution and discuss system design considerations from a telecommunication engineering perspective.

  5. Helicity multiplexed broadband metasurface holograms

    OpenAIRE

    Wen, Dandan; Yue, Fuyong; Li, Guixin; Zheng, Guoxing; Chan, Kinlong; Chen, Shumei; Chen, Ming; Li, King Fai; Wong, Polis Wing Han; Cheah, Kok Wai; Yue Bun Pun, Edwin; Shuang ZHANG; Chen, Xianzhong

    2015-01-01

    Metasurfaces are engineered interfaces that contain a thin layer of plasmonic or dielectric nanostructures capable of manipulating light in a desirable manner. Advances in metasurfaces have led to various practical applications ranging from lensing to holography. Metasurface holograms that can be switched by the polarization state of incident light have been demonstrated for achieving polarization multiplexed functionalities. However, practical application of these devices has been limited by...

  6. Multiplex detection of agricultural pathogens

    Energy Technology Data Exchange (ETDEWEB)

    McBride, Mary Teresa (Brentwood, CA); Slezak, Thomas Richard (Livermore, CA); Messenger, Sharon Lee (Kensington, CA)

    2010-09-14

    Described are kits and methods useful for detection of seven agricultural pathogens (BPSV; BHV; BVD; FMDV; BTV; SVD; and VESV) in a sample. Genomic sequence information from 7 agricultural pathogens was analyzed to identify signature sequences, e.g., polynucleotide sequences useful for confirming the presence or absence of a pathogen in a sample. Primer and probe sets were designed and optimized for use in a PCR based, multiplexed Luminex assay to successfully identify the presence or absence of pathogens in a sample.

  7. Weak percolation on multiplex networks

    OpenAIRE

    Baxter, Gareth J.; Dorogovtsev, Sergey N.; José F F Mendes; Cellai, Davide

    2013-01-01

    Bootstrap percolation is a simple but non-trivial model. It has applications in many areas of science and has been explored on random networks for several decades. In single layer (simplex) networks, it has been recently observed that bootstrap percolation, which is defined as an incremental process, can be seen as the opposite of pruning percolation, where nodes are removed according to a connectivity rule. Here we propose models of both bootstrap and pruning percolation for multiplex networ...

  8. The multiplex dependency structure of financial markets

    CERN Document Server

    Musmeci, Nicoló; Aste, Tomaso; Di Matteo, Tiziana; Latora, Vito

    2016-01-01

    We propose here a multiplex network approach to investigate simultaneously different types of dependency in complex data sets. In particular, we consider multiplex networks made of four layers corresponding respectively to linear, non-linear, tail, and partial correlations among a set of financial time series. We construct the sparse graph on each layer using a standard network filtering procedure, and we then analyse the structural properties of the obtained multiplex networks. The study of the time evolution of the multiplex constructed from financial data uncovers important changes in intrinsically multiplex properties of the network, and such changes are associated with periods of financial stress. We observe that some features are unique to the multiplex structure and would not be visible otherwise by the separate analysis of the single-layer networks corresponding to each dependency measure.

  9. In-focal-plane SQUID multiplexer

    International Nuclear Information System (INIS)

    Superconducting quantum interference device (SQUID) multiplexers make it possible to build arrays of thousands of microcalorimeters and bolometers based on superconducting transition-edge sensors (TES) with a manageable number of readout channels. Previous to this work, TES arrays were multiplexed by extracting leads from each pixel to multiplexer filter and switching elements outside of the focal plane. As the number of pixels is increased in a close-packed array, it becomes difficult to route the leads to the multiplexer. We report on the development of an in-focal-plane SQUID multiplexer to solve this problem. In this circuit, the filter and switching elements associated with each pixel fit within the pixel area so that signals are multiplexed before being extracted from the focal plane. This in-focal-plane architecture will first be used in the SCUBA-2 instrument at the James Clerk Maxwell Telescope in 2006

  10. Congenital hypothyroidism: current perspectives

    Directory of Open Access Journals (Sweden)

    Dayal D

    2015-07-01

    Full Text Available Devi Dayal, Rajendra Prasad Department of Pediatrics, Pediatric Endocrinology and Diabetes Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India Abstract: Congenital hypothyroidism (CH, the most common pediatric endocrine disorder with an estimated prevalence of 1:2,000 to 1:4,000, is an under-recognized problem in countries without routine newborn screening (NBS programs. Thyroid dysgenesis (TD is the most common cause of primary CH accounting for approximately 85% of all cases; most of the remaining patients have dyshormonogenesis. Transient CH and CH with eutopic gland, are increasingly being identified after introduction of routine NBS. The clinical features of CH are often subtle resulting in delayed diagnosis and eventually poor intellectual outcome. In developed countries, detection by NBS and early initiation of treatment has largely eliminated the intellectual disability caused by this disorder. The lower screening thyroid stimulating hormone (TSH cutoff and changes in birth demographics in some countries have been associated with an increase in the reported incidence of CH. However, the additional cases detected by the lower TSH cutoff tend to have either milder or transient hypothyroidism. Diagnosis of CH is made on the basis of serum concentrations of TSH and thyroxine (T4. Thyroid ultrasound, radionuclide scintigraphy, serum thyroglobulin (TG levels and specific genetic tests help ascertaining the exact etiological diagnosis. Non-availability of later tests should not deter the pediatrician from initiation of treatment. Age at initiation of treatment and starting dose of levothyroxine are critical factors that determine the long-term outcome. Higher doses of levothyroxine at 10–15 µg/kg/day are required in infants, with titration based on T4 and TSH levels, which are repeated frequently. Coexistence of other congenital anomalies in children with CH adds to the morbidity. Approximately 70% of babies

  11. Indoor RF signal distribution using a coherence multiplexed/subcarrier multiplexed optical transmission system

    NARCIS (Netherlands)

    Taniman, Robert; Meijerink, Arjan; Etten, van Wim; Haartsen, Jaap

    2003-01-01

    A Radio over Fiber (RoF) distribution network based on single-mode fiber (SMF) and a combination of coherence multiplexing (CM) and subcarrier multiplexing (SCM) is proposed. CM is a relatively unknown and potentially inexpensive form of photonic code-division multiplexing, and is used here as a mea

  12. Congenital Self-Healing Reticulohistiocytosis

    Science.gov (United States)

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

    2014-01-01

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

  13. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

    Full Text Available Primary sporadic congenital hypothyroidism (CH is the most common cause of hypothyroidism infancy early childhood in iodine sufficient region. Screening for neonatal CH began in 1970s. The rationale and reason for neonatal screening for CH (NSCH are well established. It is mandatory in most developed countries along with the screen for metabolic disorder. The possibility of measuring TSH and thyroid hormones in cord blood paved the way for newborn screening (NS for CH. Worldwide it is estimated that 25% of the live born population of 130 million babies undergo NSCH. Klein et al., by 1972 had shown improved CNS prognosis in CH treated by age 3 months. NSCH has largely eradicated the severe irreversible neurodevelopmental damage and reversed the chances of growth failure in infancy and early childhood.

  14. Congenital Goitre in Goats

    Directory of Open Access Journals (Sweden)

    A. H. Cheema, A. Shakoor and A. H. Shahzad

    2010-01-01

    Full Text Available One full-term, dead foetus was successfully removed from a 5-year old, crossbred black and white goat. The goat was stall-fed with green fodder and it delivered two dead foetuses in the previous pregnancy. The foetus had a large swelling in the cranio-ventral neck region. Upon cutting skin, the swelling revealed extremely enlarged thyroid gland having two asymmetrical lobes with the right lobe was 8.10 x 15.0 cm and the left 5.5 x 8.6 cm in size. The skin was devoid of hair, pale-white and thickened with myxedema. Histologically, the enlarged thyroid consisted of colloid goitre and the lungs were oedematous. This case of congenital goitre was unusual and differed from the reported cases in two aspects viz 1 the two lobes were enlarged but unequal and 2 histologically goitre was colloid instead of usual hyperplastic type.

  15. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn;

    2015-01-01

    % versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years......Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......, and malignant transformation. Of 35 patients, 25 underwent surgery. Curettage was most frequently used (64%) followed by excision and tissue expansion (20%). Six percent of the patients treated with curettage, and 78% of the patients who received excision surgery required more than 1 planned procedure, and 25...

  16. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... open Arrhythmias Atrial septal defect (ASD) Breathing difficulty Cardiac catheterization Cardiovascular Coarctation of the aorta Congenital heart disease Heart failure - overview Heart transplant Hypoplastic left heart syndrome Patent ductus arteriosus Pediatric ...

  17. Diagnosis of Congenital Myasthenic Syndromes

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2004-02-01

    Full Text Available Clinical and neurophysiological data of 11 patients (4 males, 7 females with congenital myasthenic syndromes (CMS diagnosed between 1994 and 2000 are reported from Great Ormond Street Hospital, London, UK.

  18. CONGENITAL QUADRICUSPID AORTIC-VALVE

    NARCIS (Netherlands)

    BROUWER, MHJ; DEGRAAF, JJ; EBELS, T

    1993-01-01

    Two patients with a quadricuspid aortic valve are described, one of them with concomitant juxtaposed coronary orifices facing the right hand facing sinus. The etiology and incidence of this congenital anomaly will be discussed.

  19. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Z, Arya VB, Hussain K. Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management. J Clin Res Pediatr Endocrinol. ... Shyng SL, Stanley CA. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel ...

  20. Genetic link between renal birth defects and congenital heart disease.

    Science.gov (United States)

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  1. Congenital Self-Healing Reticulohistiocytosis

    OpenAIRE

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

    2014-01-01

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

  2. Multiplex detection of respiratory pathogens

    Energy Technology Data Exchange (ETDEWEB)

    McBride, Mary (Brentwood, CA); Slezak, Thomas (Livermore, CA); Birch, James M. (Albany, CA)

    2012-07-31

    Described are kits and methods useful for detection of respiratory pathogens (influenza A (including subtyping capability for H1, H3, H5 and H7 subtypes) influenza B, parainfluenza (type 2), respiratory syncytial virus, and adenovirus) in a sample. Genomic sequence information from the respiratory pathogens was analyzed to identify signature sequences, e.g., polynucleotide sequences useful for confirming the presence or absence of a pathogen in a sample. Primer and probe sets were designed and optimized for use in a PCR based, multiplexed Luminex assay to successfully identify the presence or absence of pathogens in a sample.

  3. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  4. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  5. A Generalization of a Coherence Multiplexing System

    NARCIS (Netherlands)

    Meijerink, A.; Heideman, G.H.L.M; Etten, van W.C.

    2000-01-01

    Coherence multiplexing is a relatively unknown form of a CDMA-system, especially used in access networks for optical communication systems. Usually a coherence multiplex system uses delay-filters at the transmitter and at the receiver to perform the code. In this paper, an extension to other filter

  6. 3D multiplexed immunoplasmonics microscopy

    Science.gov (United States)

    Bergeron, Éric; Patskovsky, Sergiy; Rioux, David; Meunier, Michel

    2016-07-01

    Selective labelling, identification and spatial distribution of cell surface biomarkers can provide important clinical information, such as distinction between healthy and diseased cells, evolution of a disease and selection of the optimal patient-specific treatment. Immunofluorescence is the gold standard for efficient detection of biomarkers expressed by cells. However, antibodies (Abs) conjugated to fluorescent dyes remain limited by their photobleaching, high sensitivity to the environment, low light intensity, and wide absorption and emission spectra. Immunoplasmonics is a novel microscopy method based on the visualization of Abs-functionalized plasmonic nanoparticles (fNPs) targeting cell surface biomarkers. Tunable fNPs should provide higher multiplexing capacity than immunofluorescence since NPs are photostable over time, strongly scatter light at their plasmon peak wavelengths and can be easily functionalized. In this article, we experimentally demonstrate accurate multiplexed detection based on the immunoplasmonics approach. First, we achieve the selective labelling of three targeted cell surface biomarkers (cluster of differentiation 44 (CD44), epidermal growth factor receptor (EGFR) and voltage-gated K+ channel subunit KV1.1) on human cancer CD44+ EGFR+ KV1.1+ MDA-MB-231 cells and reference CD44- EGFR- KV1.1+ 661W cells. The labelling efficiency with three stable specific immunoplasmonics labels (functionalized silver nanospheres (CD44-AgNSs), gold (Au) NSs (EGFR-AuNSs) and Au nanorods (KV1.1-AuNRs)) detected by reflected light microscopy (RLM) is similar to the one with immunofluorescence. Second, we introduce an improved method for 3D localization and spectral identification of fNPs based on fast z-scanning by RLM with three spectral filters corresponding to the plasmon peak wavelengths of the immunoplasmonics labels in the cellular environment (500 nm for 80 nm AgNSs, 580 nm for 100 nm AuNSs and 700 nm for 40 nm × 92 nm AuNRs). Third, the developed

  7. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

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

  8. Congenital Triangular Alopecia.

    Science.gov (United States)

    Yin Li, Vincent Chum; Yesudian, Paul Devakar

    2015-01-01

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

  9. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  10. Congenital parotid fistula

    Directory of Open Access Journals (Sweden)

    Shiggaon Natasha

    2014-01-01

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

  11. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

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

  12. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

    Full Text Available Context: Congenital hypothyroidism (CH is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns. Aims and Objectives: The aim of this study is to determine the frequency of CH in neonates. Settings and Design: This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical University/Mayo Hospital, Lahore and Lady Willington Hospital Lahore in 6 months (January-June 2011. Materials and Methods: Sample was collected by non-probability purposive sampling. After consent, 550 newborn were registered for the study. Demographic data and relevant history was recorded. After aseptic measures, 2-3 ml venous blood analyzed for thyroid-stimulating hormone (TSH level by immunoradiometric assay. Treatment was started according to the individual merit as per protocol. Statistical Analysis Used: Data was analyzed by SPSS 17 and Chi-square test was applied to find out the association of CH with different variables. Results: The study population consisted of 550 newborns. Among 550 newborns, 4 (0.8% newborns had elevated TSH level. CH had statistically significant association with mother′s hypothyroidism (P value 0.000 and mother′s drug intake during the pregnancy period (P value 0.013. Conclusion: CH is 0.8% in neonates. It has statistically significant association with mother′s hypothyroidism and mother′s drug intake during pregnancy.

  13. 3D multiplexed immunoplasmonics microscopy.

    Science.gov (United States)

    Bergeron, Éric; Patskovsky, Sergiy; Rioux, David; Meunier, Michel

    2016-07-21

    Selective labelling, identification and spatial distribution of cell surface biomarkers can provide important clinical information, such as distinction between healthy and diseased cells, evolution of a disease and selection of the optimal patient-specific treatment. Immunofluorescence is the gold standard for efficient detection of biomarkers expressed by cells. However, antibodies (Abs) conjugated to fluorescent dyes remain limited by their photobleaching, high sensitivity to the environment, low light intensity, and wide absorption and emission spectra. Immunoplasmonics is a novel microscopy method based on the visualization of Abs-functionalized plasmonic nanoparticles (fNPs) targeting cell surface biomarkers. Tunable fNPs should provide higher multiplexing capacity than immunofluorescence since NPs are photostable over time, strongly scatter light at their plasmon peak wavelengths and can be easily functionalized. In this article, we experimentally demonstrate accurate multiplexed detection based on the immunoplasmonics approach. First, we achieve the selective labelling of three targeted cell surface biomarkers (cluster of differentiation 44 (CD44), epidermal growth factor receptor (EGFR) and voltage-gated K(+) channel subunit KV1.1) on human cancer CD44(+) EGFR(+) KV1.1(+) MDA-MB-231 cells and reference CD44(-) EGFR(-) KV1.1(+) 661W cells. The labelling efficiency with three stable specific immunoplasmonics labels (functionalized silver nanospheres (CD44-AgNSs), gold (Au) NSs (EGFR-AuNSs) and Au nanorods (KV1.1-AuNRs)) detected by reflected light microscopy (RLM) is similar to the one with immunofluorescence. Second, we introduce an improved method for 3D localization and spectral identification of fNPs based on fast z-scanning by RLM with three spectral filters corresponding to the plasmon peak wavelengths of the immunoplasmonics labels in the cellular environment (500 nm for 80 nm AgNSs, 580 nm for 100 nm AuNSs and 700 nm for 40 nm × 92 nm AuNRs). Third

  14. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  15. Structure of triadic relations in multiplex networks

    Science.gov (United States)

    Cozzo, Emanuele; Kivelä, Mikko; De Domenico, Manlio; Solé-Ribalta, Albert; Arenas, Alex; Gómez, Sergio; Porter, Mason A.; Moreno, Yamir

    2015-07-01

    Recent advances in the study of networked systems have highlighted that our interconnected world is composed of networks that are coupled to each other through different ‘layers’ that each represent one of many possible subsystems or types of interactions. Nevertheless, it is traditional to aggregate multilayer networks into a single weighted network in order to take advantage of existing tools. This is admittedly convenient, but it is also extremely problematic, as important information can be lost as a result. It is therefore important to develop multilayer generalizations of network concepts. In this paper, we analyze triadic relations and generalize the idea of transitivity to multiplex networks. By focusing on triadic relations, which yield the simplest type of transitivity, we generalize the concept and computation of clustering coefficients to multiplex networks. We show how the layered structure of such networks introduces a new degree of freedom that has a fundamental effect on transitivity. We compute multiplex clustering coefficients for several real multiplex networks and illustrate why one must take great care when generalizing standard network concepts to multiplex networks. We also derive analytical expressions for our clustering coefficients for ensemble averages of networks in a family of random multiplex networks. Our analysis illustrates that social networks have a strong tendency to promote redundancy by closing triads at every layer and that they thereby have a different type of multiplex transitivity from transportation networks, which do not exhibit such a tendency. These insights are invisible if one only studies aggregated networks.

  16. Cooperative epidemics on multiplex networks

    CERN Document Server

    Azimi-Tafreshi, N

    2015-01-01

    The spread of one disease, in some cases, can stimulate the spreading of another infectious disease. Here, we treat analytically a symmetric co-infection model for spreading of two diseases on a 2-layer multiplex network. We allow layer overlapping, but we assume that each layer is random and locally loop-less. Infection with one of the diseases increases the probability to get infected by the other. Using generating function method, we calculate exactly the fraction of individuals infected with both diseases (so-called co-infected clusters) in the stationary state, as well as the epidemic spreading thresholds and the phase diagram of the model. With increasing cooperation, we observe a tricritical point and the type of transition changes from continuous to hybrid. Finally we compare the co-infected clusters in the case of co-operating diseases with the so-called viable clusters in networks with dependencies.

  17. Information transport in multiplex networks

    CERN Document Server

    Pu, Cunlai; Yang, Xianxia; Yang, Jian

    2015-01-01

    In this paper, we study information transport in multiplex networks comprised of two coupled subnetworks. The upper subnetwork, called the logical layer, employs the shortest paths protocol to determine the logical paths for packets transmission, while the lower subnetwork acts as the physical layer, in which packets are delivered by the biased random walk mechanism characterized with a parameter $\\alpha$. Through simulation, we obtain the optimal $\\alpha$ corresponding to the maximum network lifetime and the maximum number of the arrival packets. Assortative coupling is better than the random coupling and the disassortative coupling, since it achieves much better transmission performances. Generally, the more homogeneous the lower subnetwork, the better the transmission performances are, which is opposite for the upper subnetwork. Finally, we propose an attack centrality for nodes based on the topological information of both subnetworks, and further investigate the transmission performances under targeted at...

  18. Multiplex Modeling of the Society

    CERN Document Server

    Kertesz, Janos; Murase, Yohsuke; Jo, Hang-Hyun; Kaski, Kimmo

    2016-01-01

    The society has a multi-layered structure, where the layers represent the different contexts. To model this structure we begin with a single-layer weighted social network (WSN) model showing the Granovetterian structure. We find that when merging such WSN models, a sufficient amount of inter-layer correlation is needed to maintain the relationship between topology and link weights, while these correlations destroy the enhancement in the community overlap due to multiple layers. To resolve this, we devise a geographic multi-layer WSN model, where the indirect inter-layer correlations due to the geographic constraints of individuals enhance the overlaps between the communities and, at the same time, the Granovetterian structure is preserved. Furthermore, the network of social interactions can be considered as a multiplex from another point of view too: each layer corresponds to one communication channel and the aggregate of all them constitutes the entire social network. However, usually one has information onl...

  19. Multiwavelength metasurfaces through spatial multiplexing.

    Science.gov (United States)

    Arbabi, Ehsan; Arbabi, Amir; Kamali, Seyedeh Mahsa; Horie, Yu; Faraon, Andrei

    2016-01-01

    Metasurfaces are two-dimensional arrangements of optical scatterers rationally arranged to control optical wavefronts. Despite the significant advances made in wavefront engineering through metasurfaces, most of these devices are designed for and operate at a single wavelength. Here we show that spatial multiplexing schemes can be applied to increase the number of operation wavelengths. We use a high contrast dielectric transmittarray platform with amorphous silicon nano-posts to demonstrate polarization insensitive metasurface lenses with a numerical aperture of 0.46, that focus light at 915 and 1550 nm to the same focal distance. We investigate two different methods, one based on large scale segmentation and one on meta-atom interleaving, and compare their performances. An important feature of this method is its simple generalization to adding more wavelengths or new functionalities to a device. Therefore, it provides a relatively straightforward method for achieving multi-functional and multiwavelength metasurface devices. PMID:27597568

  20. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... 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 ...

  1. Genetics Home Reference: giant congenital melanocytic nevus

    Science.gov (United States)

    ... mutation in large congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):1067-74. doi: 10. ... applied to giant congenital melanocytic nevi. J Invest Dermatol. 2014 Apr;134(4):879-82. doi: 10. ...

  2. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  3. On-chip mode division multiplexing technologies

    DEFF Research Database (Denmark)

    Ding, Yunhong; Frellsen, Louise Floor; Guan, Xiaowei;

    2016-01-01

    Space division multiplexing (SDM) is currently widely investigated in order to provide enhanced capacity thanks to the utilization of space as a new degree of multiplexing freedom in both optical fiber communication and on-chip interconnects. Basic components allowing the processing of spatial...... using one-dimensional (1D) photonic crystal silicon waveguides. We furthermore use the fabricated devices to demonstrate on-chip point-to-point mode division multiplexing transmission, and all-optical signal processing by mode-selective wavelength conversion. Finally, we report an efficient silicon...

  4. 3D multiplexed immunoplasmonics microscopy

    Science.gov (United States)

    Bergeron, Éric; Patskovsky, Sergiy; Rioux, David; Meunier, Michel

    2016-07-01

    Selective labelling, identification and spatial distribution of cell surface biomarkers can provide important clinical information, such as distinction between healthy and diseased cells, evolution of a disease and selection of the optimal patient-specific treatment. Immunofluorescence is the gold standard for efficient detection of biomarkers expressed by cells. However, antibodies (Abs) conjugated to fluorescent dyes remain limited by their photobleaching, high sensitivity to the environment, low light intensity, and wide absorption and emission spectra. Immunoplasmonics is a novel microscopy method based on the visualization of Abs-functionalized plasmonic nanoparticles (fNPs) targeting cell surface biomarkers. Tunable fNPs should provide higher multiplexing capacity than immunofluorescence since NPs are photostable over time, strongly scatter light at their plasmon peak wavelengths and can be easily functionalized. In this article, we experimentally demonstrate accurate multiplexed detection based on the immunoplasmonics approach. First, we achieve the selective labelling of three targeted cell surface biomarkers (cluster of differentiation 44 (CD44), epidermal growth factor receptor (EGFR) and voltage-gated K+ channel subunit KV1.1) on human cancer CD44+ EGFR+ KV1.1+ MDA-MB-231 cells and reference CD44- EGFR- KV1.1+ 661W cells. The labelling efficiency with three stable specific immunoplasmonics labels (functionalized silver nanospheres (CD44-AgNSs), gold (Au) NSs (EGFR-AuNSs) and Au nanorods (KV1.1-AuNRs)) detected by reflected light microscopy (RLM) is similar to the one with immunofluorescence. Second, we introduce an improved method for 3D localization and spectral identification of fNPs based on fast z-scanning by RLM with three spectral filters corresponding to the plasmon peak wavelengths of the immunoplasmonics labels in the cellular environment (500 nm for 80 nm AgNSs, 580 nm for 100 nm AuNSs and 700 nm for 40 nm × 92 nm AuNRs). Third, the developed

  5. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge;

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  6. [The congenital afibrinogenemia: case report].

    Science.gov (United States)

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

    2010-01-01

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

  7. Congenital granular-cell myoblastoma.

    Science.gov (United States)

    Cussen, L J; MacMahon, R A

    1975-04-01

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

  8. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  9. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    2005-01-01

    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 d

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

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

  11. Equivalence of time-multiplexed and frequency-multiplexed signals in digital communications.

    Science.gov (United States)

    Timor, U.

    1972-01-01

    In comparing different techniques for multiplexing N binary data signals into a single channel, time-division multiplexing (TDM) is known to have a theoretic efficiency of 100 percent (neglecting sync power) and thus seems to outperform frequency-division multiplexing systems (FDM). By considering more general FDM systems, we will show that both TDM and FDM are equivalent and have an efficiency of 100 percent. The difference between the systems is in the multiplexing and demultiplexing subsystems, but not in the performance or in the generated waveforms.

  12. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  13. Network robustness of correlated multiplex networks

    CERN Document Server

    Min, Byungjoon; Lee, Kyu-Min; Goh, K -I

    2013-01-01

    We study the network robustness properties of multiplex networks which contain multiple types of links, focusing on the role of correlation between degrees of a node in different layers. We use generating function formalism to address various types of network robustness of multiplex networks: the ordinary and mutual connectivity under random or targeted node removals as well as the biconnectivity. We found that correlated multiplexity can affect the resilience of networks in diverse ways. Specifically, for maximally-correlated multiplex networks, all pairs of nodes in the giant component are connected by at least two independent paths and networks structure is highly robust to random failures. In contrast, anti-correlated networks are resilient against attacks on targeted nodes with high degrees but vulnerable to random failures.

  14. Levy random walks on multiplex networks

    CERN Document Server

    Guo, Quantong; Zheng, Zhiming; Moreno, Yamir

    2016-01-01

    Random walks constitute a fundamental mechanism for many dynamics taking place on complex networks. Besides, as a more realistic description of our society, multiplex networks have been receiving a growing interest, as well as the dynamical processes that occur on top of them. Here, inspired by one specific model of random walks that seems to be ubiquitous across many scientific fields, the Levy flight, we study a new navigation strategy on top of multiplex networks. Capitalizing on spectral graph and stochastic matrix theories, we derive analytical expressions for the mean first passage time and the average time to reach a node on these networks. Moreover, we also explore the efficiency of Levy random walks, which we found to be very different as compared to the single layer scenario, accounting for the structure and dynamics inherent to the multiplex network. Finally, by comparing with some other important random walk processes defined on multiplex networks, we find that in some region of the parameters, a ...

  15. Overlapped frequency-time division multiplexing

    Institute of Scientific and Technical Information of China (English)

    JIANG Hui; LI Dao-ben

    2009-01-01

    A technique named overlapped frequency-time division multiplexing (OVFTDM)) is proposed in this article. The technique is derived from Nyquist system and frequency-time division multiplexing system. When the signals are compactly overlapped without the orthogonality in time domain, the technique is named overlapped time division multiplexing (OVTDM), whereas when signals are compactly overlapped without the orthogonality in frequency domain, the technique is called overlapped frequency division multiplexing (OVFDM). To further improve spectral efficiency, the OVFTDM in which signals are overlapped both in frequency domain and in time domain is explored. OVFTDM does not depend on orthogonality whatever in time domain or in frequency domain like Nyquist system or OFDM system, but on the convolutional constraint relationship among signals. Therefore, not only the spectral efficiency but also the reliability is improved. The simulations verify the validity of this theory.

  16. Correlated edge overlaps in multiplex networks

    Science.gov (United States)

    Baxter, Gareth J.; Bianconi, Ginestra; da Costa, Rui A.; Dorogovtsev, Sergey N.; Mendes, José F. F.

    2016-07-01

    We develop the theory of sparse multiplex networks with partially overlapping links based on their local treelikeness. This theory enables us to find the giant mutually connected component in a two-layer multiplex network with arbitrary correlations between connections of different types. We find that correlations between the overlapping and nonoverlapping links markedly change the phase diagram of the system, leading to multiple hybrid phase transitions. For assortative correlations we observe recurrent hybrid phase transitions.

  17. Emergence of chimera in multiplex network

    OpenAIRE

    Ghosh, Saptarshi; Jalan, Sarika

    2015-01-01

    Chimera is a relatively new emerging phenomenon where coexistence of synchronous and asynchronous state is observed in symmetrically coupled dynamical units. We report observation of the chimera state in multiplex networks where individual layer is represented by 1-d lattice with non-local interactions. While, multiplexing does not change the type of the chimera state and retains the multi-chimera state displayed by the isolated networks, it changes the regions of the incoherence. We investig...

  18. Optimization of synchronizability in multiplex networks

    CERN Document Server

    Dwivedi, Sanjiv K; Jalan, Sarika

    2015-01-01

    We investigate the optimization of synchronizability in multiplex networks and demonstrate that the interlayer coupling strength is the deciding factor for the efficiency of optimization. The optimized networks have homogeneity in the degree as well as in the betweenness centrality. Additionally, the interlayer coupling strength crucially affects various properties of individual layers in the optimized multiplex networks. We provide an understanding to how the emerged network properties are shaped or affected when the evolution renders them better synchronizable.

  19. Correlated Edge Overlaps in Multiplex Networks

    CERN Document Server

    Baxter, Gareth J; da Costa, Rui A; Dorogovtsev, Sergey N; Mendes, José F F

    2016-01-01

    We develop the theory of sparse multiplex networks with partially overlapping links based on their local tree-likeness. This theory enables us to find the giant mutually connected component in a two-layer multiplex network with arbitrary correlations between connections of different types. We find that correlations between the overlapping and non-overlapping links markedly change the phase diagram of the system, leading to multiple hybrid phase transitions. For assortative correlations we observe recurrent hybrid phase transitions.

  20. Health in adults with congenital heart disease.

    Science.gov (United States)

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

    2016-09-01

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

  1. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both non-oper

  2. Congenital hypothyroidism missed on screening.

    OpenAIRE

    Grant, G. A.; Carson, D. J.; Reid, M. M.(Department of Physics, University of Warwick, Coventry, UK); Hutchinson, J. M.

    1986-01-01

    Three patients with congenital hypothyroidism missed on routine screening due to normal low thyrotrophin concentrations in the neonatal period presented in later childhood. Clinicians should remain aware of hypothyroidism as a cause of morbidity in early childhood despite a national screening programme.

  3. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

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

  4. Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

    Directory of Open Access Journals (Sweden)

    Clairton Marcolongo-Pereira

    2010-10-01

    muscular system (arthrogryposis, three (6.25% the cardiovascular system (patent ductus arteriosus and unclassified malformation, one (2.08% the lymphatic system (hereditary lymphatic hypoplasia, one (2.08% the alimentary system (atresia ani, and one (2.08% the eye (congenital blindness. In five cases (10.41% different systems were affected (diprosopus. Different hereditary diseases (hereditary hypermetry, arthrogryposis, and lymphatic hypoplasia or diseases suspected of being hereditary (chondrodysplasia were diagnosed in cattle. Also occurred, with less frequency, congenital defects associated with environmental factors (hypomyelinogenesis due to cooper deficiency or probably environmental factors (cleft palate, cerebellar hypoplasia, and cerebellar cortical degeneration. In sheep all observed defects were sporadic and affected various systems (anomalous twins and aprosopia. In buffalo all congenital defects were hereditary (arthrogryposis, myotonia and mechano-bullous genodermatoses or suspected of being hereditary (albinism, megaesophagus and hydranencephaly/cerebellar hypoplasia. It is concluded that sporadic congenital defects are not important in the three species studied. Despite the low frequency congenital defects associated with environmental factors could be important in some regions or farms. Hereditary or probably hereditary diseases are important, not only by the mortality rates, but also because the risk of dissemination of the genes in the different breeds. In water buffalo the high prevalence of hereditary diseases was a consequence of the high consanguinity of the Brazilian buffalo population. Control measures need to be taken to avoid the spread of recessive genes in cattle and buffalo.

  5. Giant components in directed multiplex networks.

    Science.gov (United States)

    Azimi-Tafreshi, N; Dorogovtsev, S N; Mendes, J F F

    2014-11-01

    We describe the complex global structure of giant components in directed multiplex networks that generalizes the well-known bow-tie structure, generic for ordinary directed networks. By definition, a directed multiplex network contains vertices of one type and directed edges of m different types. In directed multiplex networks, we distinguish a set of different giant components based on the existence of directed paths of different types between their vertices such that for each type of edges, the paths run entirely through only edges of that type. If, in particular, m=2, we define a strongly viable component as a set of vertices in which for each type of edges each two vertices are interconnected by at least two directed paths in both directions, running through the edges of only this type. We show that in this case, a directed multiplex network contains in total nine different giant components including the strongly viable component. In general, the total number of giant components is 3^{m}. For uncorrelated directed multiplex networks, we obtain exactly the size and the emergence point of the strongly viable component and estimate the sizes of other giant components. PMID:25493836

  6. Congenital absence of uterine cervix

    Directory of Open Access Journals (Sweden)

    Selvaraj Ravi Lakshmy

    2016-10-01

    Full Text Available Cervical agenesis or dysgenesis is an extremely rare congenital anomaly. Patients with congenital absence of the cervix present with primary amenorrhea and infertility. Though it poses a diagnostic challenge to the clinician, correct diagnosis prior to surgery is possible with the help of ultrasound. Early diagnosis offers significant advantages in patient care and effective presurgical planning. This case report reviews two cases of cervical agenesis diagnosed with the help of ultrasound and later confirmed with the help of MRI. Ultrasonography is the modality of choice to define the internal genital anatomy and helps us to classify the level of obstruction or aplasia in obstructive uterine anomalies. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3634-3636

  7. [Radiological evaluation of congenital tumors].

    Science.gov (United States)

    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.

  8. Congenital contractural arachnodactyly (Beals syndrome).

    OpenAIRE

    Viljoen, D

    1994-01-01

    Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia lentis h...

  9. Risk factors for congenital hydrocephalus

    DEFF Research Database (Denmark)

    Munch, Tina Noergaard; Rasmussen, Marie-Louise Hee; Wohlfahrt, Jan;

    2014-01-01

    OBJECTIVES: To investigate the associations between isolated congenital hydrocephalus (CHC) and maternal characteristics, maternal medical diseases, and medicine intake during pregnancy as well as birth characteristics of the child in a retrospective, register-based, nationwide cohort study...... aspects and comorbidities associated with maternal use of antidepressants, should be the targets for future research. Potential biological pathways by which antidepressants may cause hydrocephalus remain to be elucidated....

  10. Congenital nystagmus and central hypothyroidism

    OpenAIRE

    Reynaert, Nele; Braat, Elke; de Zegher, Francis

    2015-01-01

    We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may not yet be present in early life.

  11. Clinicobacteriological Significance in Congenital Dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bhavna Raina, Sudhir Bhagotra

    2010-10-01

    Full Text Available In the present study, 37 eyes of 30 congenital dacryocystitis patients (7 bilateral were studied, out ofwhich 60% of patients were male and 40% female. Gram positive cocci constituted the major bacterialisolate (56.7% with Streptococcus pneumoniae (27.9% predominating. Most effective antibiotics againstthe commonest organism Streptococcus pneumoniae were Tobramycin and Gentamycin showing 100%effectivity. Staphylococcus albus 17.4% was the most common normal conjunctival commensal isolated.

  12. Congenital PCB poisoning: a reevaluation.

    OpenAIRE

    Miller, R. W.

    1985-01-01

    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 penetr...

  13. Congenital chloridorrhea in Korean infants.

    OpenAIRE

    Lee, Y. D.; Lee, H. J.; Moon, H. R.

    1988-01-01

    The present paper describes two Korean male infants, 1. 16 year old and newly born neonate from two families who were diagnosed and managed for one of very rare inborn errors of metabolism, congenital chloridorrhea (Darrow-Gamble syndrome). The diagnosis was suggested by one of the authors (HRM) from the unusual combination of metabolic alkalosis with severe gastrointestinal disorder presenting with chronic, profuse watery diarrhea in the newborn period in the first patient; and the maternal ...

  14. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available 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.

  15. Multiplex bioanalytical methods for food and environmental monitoreing

    NARCIS (Netherlands)

    Rebe, S.; Haasnoot, W.

    2011-01-01

    Recent advances in miniaturization of analytical systems and newly emerging technologies offer platforms with greater automation and multiplexing capabilities than traditional biological binding assays. Multiplexed bioanalytical techniques provide control agencies and food industries with new possib

  16. Multiplexed image storage by electromagnetically induced transparency in a solid

    Science.gov (United States)

    Heinze, G.; Rentzsch, N.; Halfmann, T.

    2012-11-01

    We report on frequency- and angle-multiplexed image storage by electromagnetically induced transparency (EIT) in a Pr3+:Y2SiO5 crystal. Frequency multiplexing by EIT relies on simultaneous storage of light pulses in atomic coherences, driven in different frequency ensembles of the inhomogeneously broadened solid medium. Angular multiplexing by EIT relies on phase matching of the driving laser beams, which permits simultaneous storage of light pulses propagating under different angles into the crystal. We apply the multiplexing techniques to increase the storage capacity of the EIT-driven optical memory, in particular to implement multiplexed storage of larger two-dimensional amounts of data (images). We demonstrate selective storage and readout of images by frequency-multiplexed EIT and angular-multiplexed EIT, as well as the potential to combine both multiplexing approaches towards further enhanced storage capacities.

  17. Metric projection for dynamic multiplex networks

    CERN Document Server

    Jurman, Giuseppe

    2016-01-01

    Evolving multiplex networks are a powerful model for representing the dynamics along time of different phenomena, such as social networks, power grids, biological pathways. However, exploring the structure of the multiplex network time series is still an open problem. Here we propose a two-steps strategy to tackle this problem based on the concept of distance (metric) between networks. Given a multiplex graph, first a network of networks is built for each time steps, and then a real valued time series is obtained by the sequence of (simple) networks by evaluating the distance from the first element of the series. The effectiveness of this approach in detecting the occurring changes along the original time series is shown on a synthetic example first, and then on the Gulf dataset of political events.

  18. Biased random walks on multiplex networks

    CERN Document Server

    Battiston, Federico; Latora, Vito

    2015-01-01

    Biased random walks on complex networks are a particular type of walks whose motion is biased on properties of the destination node, such as its degree. In recent years they have been exploited to design efficient strategies to explore a network, for instance by constructing maximally mixing trajectories or by sampling homogeneously the nodes. In multiplex networks, the nodes are related through different types of links (layers or communication channels), and the presence of connections at different layers multiplies the number of possible paths in the graph. In this work we introduce biased random walks on multiplex networks and provide analytical solutions for their long-term properties such as the stationary distribution and the entropy rate. We focus on degree-biased walks and distinguish between two subclasses of random walks: extensive biased walks consider the properties of each node separately at each layer, intensive biased walks deal instead with intrinsically multiplex variables. We study the effec...

  19. Emergence of multiplex communities in collaboration networks

    CERN Document Server

    Battiston, Federico; Nicosia, Vincenzo; Bianconi, Ginestra; Latora, Vito

    2015-01-01

    Community structures in collaboration networks reflect the natural tendency of individuals to organize their work in groups in order to better achieve common goals. In most of the cases, individuals exploit their connections to introduce themselves to new areas of interests, giving rise to multifaceted collaborations which span different fields. In this paper, we analyse collaborations in science and among movie actors as multiplex networks, where the layers represent respectively research topics and movie genres, and we show that communities indeed coexist and overlap at the different layers of such systems. We then propose a model to grow multiplex networks based on two mechanisms of intra and inter-layer triadic closure which mimic the real processes in which collaborations evolve. We show that our model is able to explain the multiplex community structure observed empirically, and we infer the strength of the two underlying social mechanisms from real-world systems. Being also able to correctly reproduce ...

  20. Metric projection for dynamic multiplex networks.

    Science.gov (United States)

    Jurman, Giuseppe

    2016-08-01

    Evolving multiplex networks are a powerful model for representing the dynamics along time of different phenomena, such as social networks, power grids, biological pathways. However, exploring the structure of the multiplex network time series is still an open problem. Here we propose a two-step strategy to tackle this problem based on the concept of distance (metric) between networks. Given a multiplex graph, first a network of networks is built for each time step, and then a real valued time series is obtained by the sequence of (simple) networks by evaluating the distance from the first element of the series. The effectiveness of this approach in detecting the occurring changes along the original time series is shown on a synthetic example first, and then on the Gulf dataset of political events. PMID:27626089

  1. Autoimmune myasthenia gravis.

    Science.gov (United States)

    Jayawant, Sandeep; Parr, Jeremy; Vincent, Angela

    2013-01-01

    Myasthenia gravis in children can be generalized or ocular, and associated with antibodies to acetylcholine receptors or muscle-specific kinase, but it can be negative for those antibodies (seronegative). It needs to be distinguished from congenital myasthenic syndromes and other neuromuscular diseases. In the perinatal period, transient neonatal myasthenia and arthrogryposis multiplex congenita, due to maternal antibodies, need to be considered. Juvenile myasthenia is similar in presentation and treatment to that in adults. Here we present guidelines for recognition, diagnosis, and treatment. PMID:23622368

  2. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  3. Congenital hypothyroidism: increased incidence in Asian families.

    OpenAIRE

    Rosenthal, M; Addison, G. M.; Price, D. A.

    1988-01-01

    Screening in the North West health region of England showed a significantly higher incidence of congenital hypothyroidism in Asian families--1/918 compared with 1/3391 in non-Asians. This could only in part be explained by consanguinity. No differences were found in birth order, season of birth, gestational age, or birth weight between normal infants and those with congenital hypothyroidism. There was a significantly higher incidence of additional congenital abnormalities (9%) and a significa...

  4. Neonatal Sludge: A finding of congenital hypothyroidism

    OpenAIRE

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

    2010-01-01

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

  5. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  6. Multiplexed Memory-Insensitive Quantum Repeaters

    CERN Document Server

    Collins, O A; Kennedy, T A B; Kuzmich, A

    2006-01-01

    Long-distance quantum communication via distant pairs of entangled quantum bits (qubits) is the first step towards technologies such as perfectly secure message transmission and distributed quantum computing. To date, the most promising proposals require quantum repeaters to mitigate the exponential decrease in communication rate due to optical fiber losses. However, quantum repeaters are exquisitely sensitive to the lifetimes of the memory elements they use. We propose a new approach based on a real-time hardware reconfiguration of multiplexed quantum nodes. This scheme should enable the construction of multiplexed quantum repeater networks that are largely insensitive to the coherence times of the quantum memory elements.

  7. Multiplexed imaging of intracellular protein networks.

    Science.gov (United States)

    Grecco, Hernán E; Imtiaz, Sarah; Zamir, Eli

    2016-08-01

    Cellular functions emerge from the collective action of a large number of different proteins. Understanding how these protein networks operate requires monitoring their components in intact cells. Due to intercellular and intracellular molecular variability, it is important to monitor simultaneously multiple components at high spatiotemporal resolution. However, inherent trade-offs narrow the boundaries of achievable multiplexed imaging. Pushing these boundaries is essential for a better understanding of cellular processes. Here the motivations, challenges and approaches for multiplexed imaging of intracellular protein networks are discussed. © 2016 International Society for Advancement of Cytometry. PMID:27183498

  8. Performance modeling, loss networks, and statistical multiplexing

    CERN Document Server

    Mazumdar, Ravi

    2009-01-01

    This monograph presents a concise mathematical approach for modeling and analyzing the performance of communication networks with the aim of understanding the phenomenon of statistical multiplexing. The novelty of the monograph is the fresh approach and insights provided by a sample-path methodology for queueing models that highlights the important ideas of Palm distributions associated with traffic models and their role in performance measures. Also presented are recent ideas of large buffer, and many sources asymptotics that play an important role in understanding statistical multiplexing. I

  9. Evolution of cooperation in multiplex networks.

    Science.gov (United States)

    Gómez-Gardeñes, Jesús; Reinares, Irene; Arenas, Alex; Floría, Luis Mario

    2012-01-01

    We study evolutionary game dynamics on structured populations in which individuals take part in several layers of networks of interactions simultaneously. This multiplex of interdependent networks accounts for the different kind of social ties each individual has. By coupling the evolutionary dynamics of a Prisoner's Dilemma game in each of the networks, we show that the resilience of cooperative behaviors for extremely large values of the temptation to defect is enhanced by the multiplex structure. Furthermore, this resilience is intrinsically related to a non-trivial organization of cooperation across the network layers, thus providing a new way out for cooperation to survive in structured populations.

  10. Congenital muscular dystrophy with characteristic radiological findings similar to those with Fukuyama congenital muscular dystrophy

    OpenAIRE

    Garg Ajay; Gulati Sheffali; Gupta Vipul; Kalra Veena

    2004-01-01

    Fukuyama congenital muscular dystrophy (FCMD) is the most common congenital muscular dystrophy in Japan and there are isolated reports of non-Japanese patients with FCMD. We report an Indian patient with congenital muscular dystrophy and characteristic radiological findings similar to those with FCMD.

  11. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  12. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  13. Quadrotor system identification using the multivariate multiplex b-spline

    NARCIS (Netherlands)

    Visser, T.; De Visser, C.C.; Van Kampen, E.J.

    2015-01-01

    A novel method for aircraft system identification is presented that is based on a new multivariate spline type; the multivariate multiplex B-spline. The multivariate multiplex B-spline is a generalization of the recently introduced tensor-simplex B-spline. Multivariate multiplex splines obtain simil

  14. Delay grid multiplexing: simple time-based multiplexing and readout method for silicon photomultipliers

    Science.gov (United States)

    Won, Jun Yeon; Ko, Guen Bae; Lee, Jae Sung

    2016-10-01

    In this paper, we propose a fully time-based multiplexing and readout method that uses the principle of the global positioning system. Time-based multiplexing allows simplifying the multiplexing circuits where the only innate traces that connect the signal pins of the silicon photomultiplier (SiPM) channels to the readout channels are used as the multiplexing circuit. Every SiPM channel is connected to the delay grid that consists of the traces on a printed circuit board, and the inherent transit times from each SiPM channel to the readout channels encode the position information uniquely. Thus, the position of each SiPM can be identified using the time difference of arrival (TDOA) measurements. The proposed multiplexing can also allow simplification of the readout circuit using the time-to-digital converter (TDC) implemented in a field-programmable gate array (FPGA), where the time-over-threshold (ToT) is used to extract the energy information after multiplexing. In order to verify the proposed multiplexing method, we built a positron emission tomography (PET) detector that consisted of an array of 4  ×  4 LGSO crystals, each with a dimension of 3  ×  3  ×  20 mm3, and one- to-one coupled SiPM channels. We first employed the waveform sampler as an initial study, and then replaced the waveform sampler with an FPGA-TDC to further simplify the readout circuits. The 16 crystals were clearly resolved using only the time information obtained from the four readout channels. The coincidence resolving times (CRTs) were 382 and 406 ps FWHM when using the waveform sampler and the FPGA-TDC, respectively. The proposed simple multiplexing and readout methods can be useful for time-of-flight (TOF) PET scanners.

  15. Multiple routes transmitted epidemics on multiplex networks

    International Nuclear Information System (INIS)

    This letter investigates the multiple routes transmitted epidemic process on multiplex networks. We propose detailed theoretical analysis that allows us to accurately calculate the epidemic threshold and outbreak size. It is found that the epidemic can spread across the multiplex network even if all the network layers are well below their respective epidemic thresholds. Strong positive degree–degree correlation of nodes in multiplex network could lead to a much lower epidemic threshold and a relatively smaller outbreak size. However, the average similarity of neighbors from different layers of nodes has no obvious effect on the epidemic threshold and outbreak size. -- Highlights: •We studies multiple routes transmitted epidemic process on multiplex networks. •SIR model and bond percolation theory are used to analyze the epidemic processes. •We derive equations to accurately calculate the epidemic threshold and outbreak size. •ASN has no effect on the epidemic threshold and outbreak size. •Strong positive DDC leads to a lower epidemic threshold and a smaller outbreak size.

  16. Moving through a multiplex holographic scene

    Science.gov (United States)

    Mrongovius, Martina

    2013-02-01

    This paper explores how movement can be used as a compositional element in installations of multiplex holograms. My holographic images are created from montages of hand-held video and photo-sequences. These spatially dynamic compositions are visually complex but anchored to landmarks and hints of the capturing process - such as the appearance of the photographer's shadow - to establish a sense of connection to the holographic scene. Moving around in front of the hologram, the viewer animates the holographic scene. A perception of motion then results from the viewer's bodily awareness of physical motion and the visual reading of dynamics within the scene or movement of perspective through a virtual suggestion of space. By linking and transforming the physical motion of the viewer with the visual animation, the viewer's bodily awareness - including proprioception, balance and orientation - play into the holographic composition. How multiplex holography can be a tool for exploring coupled, cross-referenced and transformed perceptions of movement is demonstrated with a number of holographic image installations. Through this process I expanded my creative composition practice to consider how dynamic and spatial scenes can be conveyed through the fragmented view of a multiplex hologram. This body of work was developed through an installation art practice and was the basis of my recently completed doctoral thesis: 'The Emergent Holographic Scene — compositions of movement and affect using multiplex holographic images'.

  17. Microwave multiplex readout for superconducting sensors

    Science.gov (United States)

    Ferri, E.; Becker, D.; Bennett, D.; Faverzani, M.; Fowler, J.; Gard, J.; Giachero, A.; Hays-Wehle, J.; Hilton, G.; Maino, M.; Mates, J.; Puiu, A.; Nucciotti, A.; Reintsema, C.; Schmidt, D.; Swetz, D.; Ullom, J.; Vale, L.

    2016-07-01

    The absolute neutrino mass scale is still an outstanding challenge in both particle physics and cosmology. The calorimetric measurement of the energy released in a nuclear beta decay is a powerful tool to determine the effective electron-neutrino mass. In the last years, the progress on low temperature detector technologies has allowed to design large scale experiments aiming at pushing down the sensitivity on the neutrino mass below 1 eV. Even with outstanding performances in both energy (~ eV on keV) and time resolution (~ 1 μs) on the single channel, a large number of detectors working in parallel is required to reach a sub-eV sensitivity. Microwave frequency domain readout is the best available technique to readout large array of low temperature detectors, such as Transition Edge Sensors (TESs) or Microwave Kinetic Inductance Detectors (MKIDs). In this way a multiplex factor of the order of thousands can be reached, limited only by the bandwidth of the available commercial fast digitizers. This microwave multiplexing system will be used to readout the HOLMES detectors, an array of 1000 microcalorimeters based on TES sensors in which the 163Ho will be implanted. HOLMES is a new experiment for measuring the electron neutrino mass by means of the electron capture (EC) decay of 163Ho. We present here the microwave frequency multiplex which will be used in the HOLMES experiment and the microwave frequency multiplex used to readout the MKID detectors developed in Milan as well.

  18. Multiplexing schemes for quantum repeater networks

    Science.gov (United States)

    Aparicio, Luciano; Van Meter, Rodney

    2011-08-01

    When built, quantum repeaters will allow the distribution of entangled quantum states across large distances, playing a vital part in many proposed quantum technologies. Enabling multiple users to connect through the same network will be key to their real-world deployment. Previous work on repeater technologies has focussed only on simple entanglment production, without considering the issues of resource scarcity and competition that necessarily arise in a network setting. In this paper we simulated a thirteen-node network with up to five flows sharing different parts of the network, measuring the total throughput and fairness for each case. Our results suggest that the Internet-like approach of statistical multiplexing use of a congested link gives the highest aggregate throughput. Time division multiplexing and buffer space multiplexing were slightly less effective, but all three schemes allow the sum of multiple flows to substantially exceed that of any one flow, improving over circuit switching by taking advantage of resources that are forced to remain idle in circuit switching. All three schemes proved to have excellent fairness. The high performance, fairness and simplicity of implementation support a recommendation of statistical multiplexing for shared quantum repeater networks.

  19. Multiple routes transmitted epidemics on multiplex networks

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Dawei [Information Security Center, State Key Laboratory of Networking and Switching Technology, Beijing University of Posts and Telecommunications, P.O. Box 145, Beijing 100876 (China); National Engineering Laboratory for Disaster Backup and Recovery, Beijing University of Posts and Telecommunications, Beijing 100876 (China); Shandong Provincial Key Laboratory of Computer Network, Shandong Computer Science Center, Jinan 250014 (China); Li, Lixiang [Information Security Center, State Key Laboratory of Networking and Switching Technology, Beijing University of Posts and Telecommunications, P.O. Box 145, Beijing 100876 (China); National Engineering Laboratory for Disaster Backup and Recovery, Beijing University of Posts and Telecommunications, Beijing 100876 (China); Peng, Haipeng, E-mail: penghaipeng@bupt.edu.cn [Information Security Center, State Key Laboratory of Networking and Switching Technology, Beijing University of Posts and Telecommunications, P.O. Box 145, Beijing 100876 (China); National Engineering Laboratory for Disaster Backup and Recovery, Beijing University of Posts and Telecommunications, Beijing 100876 (China); Luo, Qun; Yang, Yixian [Information Security Center, State Key Laboratory of Networking and Switching Technology, Beijing University of Posts and Telecommunications, P.O. Box 145, Beijing 100876 (China); National Engineering Laboratory for Disaster Backup and Recovery, Beijing University of Posts and Telecommunications, Beijing 100876 (China)

    2014-02-01

    This letter investigates the multiple routes transmitted epidemic process on multiplex networks. We propose detailed theoretical analysis that allows us to accurately calculate the epidemic threshold and outbreak size. It is found that the epidemic can spread across the multiplex network even if all the network layers are well below their respective epidemic thresholds. Strong positive degree–degree correlation of nodes in multiplex network could lead to a much lower epidemic threshold and a relatively smaller outbreak size. However, the average similarity of neighbors from different layers of nodes has no obvious effect on the epidemic threshold and outbreak size. -- Highlights: •We studies multiple routes transmitted epidemic process on multiplex networks. •SIR model and bond percolation theory are used to analyze the epidemic processes. •We derive equations to accurately calculate the epidemic threshold and outbreak size. •ASN has no effect on the epidemic threshold and outbreak size. •Strong positive DDC leads to a lower epidemic threshold and a smaller outbreak size.

  20. Silicon Photonic Integrated Circuit Mode Multiplexer

    DEFF Research Database (Denmark)

    Ding, Yunhong; Ou, Haiyan; Xu, Jing;

    2013-01-01

    We propose and demonstrate a novel silicon photonic integrated circuit enabling multiplexing of orthogonal modes in a few-mode fiber (FMF). By selectively launching light to four vertical grating couplers, all six orthogonal spatial and polarization modes supported by the FMF are successfully...

  1. Immunity of multiplex networks via acquaintance vaccination

    Science.gov (United States)

    Wang, Zhen; Zhao, Da-Wei; Wang, Lin; Sun, Gui-Quan; Jin, Zhen

    2015-11-01

    How to find the effective approach of immunizing a population is one open question in the research of complex systems. Up to now, there have been a great number of works focusing on the efficiency of various immunization strategies. However, the majority of these existing achievements are limited to isolated networks, how immunization affects disease spreading in multiplex networks seems to need further exploration. In this letter, we explore the impact of the acquaintance immunization in multiplex networks, where two kinds of immunization strategies, multiplex node-based acquaintance immunization and layer node-based acquaintance immunization, are proposed. With the generating function method, our theoretical framework is able to accurately calculate the critical immunization threshold which is one of the most important indexes to predict the epidemic regime. Moreover, we further uncover that, with the increment of degree correlation between network layers, the immunization threshold declines for multiplex node-based acquaintance immunization, but slowly increases for layer node-based acquaintance immunization.

  2. Congenital Defects in Neutrophil Dynamics

    Directory of Open Access Journals (Sweden)

    Marton Keszei

    2014-01-01

    Full Text Available Neutrophil granulocytes are key effector cells of the vertebrate immune system. They represent 50–70% of the leukocytes in the human blood and their loss by disease or drug side effect causes devastating bacterial infections. Their high turnover rate, their fine-tuned killing machinery, and their arsenal of toxic vesicles leave them particularly vulnerable to various genetic deficiencies. The aim of this review is to highlight those congenital immunodeficiencies which impede the dynamics of neutrophils, such as migration, cytoskeletal rearrangements, vesicular trafficking, and secretion.

  3. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Rittler Mônica

    2002-01-01

    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  4. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mônica Rittler

    2002-04-01

    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  5. Congenital mesoblastic nephroma: case report

    OpenAIRE

    POLAT, Mesut; Arisoy, Resul; Erdoğdu, Emre; ANGIN, A.Doğukan; TUĞRUL, Ahmet Semih

    2014-01-01

    Aim: Aim of the report is discuss the case who was prenatally diagnosed as congenital mesoblastic nephroma and  postnatal managenent. Case: We reported a case of 27 year old gravida 3, parity 1, abortion 1 referred to our clinic with the diagnosis of preterm labour and polihydramniosis at 34. gestational week. The ultrasonografic examination of the patient, with no antenatal follow up before, revealed a fetal biometry of 33 weeks and polyhydramniosis. A 63x66 mm solid mass with reguler border...

  6. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases

    Indian Academy of Sciences (India)

    Biju Joseph; Anuradha Srinivasan; Nagasamy Soumittra; Authiappan Vidhya; Nitin Shridhara Shetty; Satagopan Uthra; Govindasamy Kumaramanickavel

    2002-04-01

    We used multiplex PCR followed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber’s congenital amaurosis (LCA) patients. The RPE65 protein is believed to play an important role in the metabolism of vitamin A in the visual cycle and mutations identified in the gene could have implications for vitamin A-based therapeutic intervention. We were able to identify a homozygous mutation (AAT → AAG) in exon 9 in an arRP patient and a heterozygous missense transversion (AAT → AAG) also in exon 9 of an LCA patient. We also identified a polymorphism in exon 10 (GAG → GAA) in an arRP as well as an LCA patient. Mutation screening would be greatly facilitated by multiplex PCR which could cut down costs, labour and time involved. The nucleotide changes observed in this study could be de novo. Though a larger study has been undertaken, from the preliminary results it appears that in India the RPE65 gene seems to be less involved in causation of LCA.

  7. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

    T. van der Bom; A.C. Zomer; A.H. Zwinderman; F.J. Meijboom; B.J. Bouma; B.J.M. Mulder

    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 failur

  8. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

    McGivern, Mark R.; Best, Kate E.; Rankin, Judith;

    2015-01-01

    INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH...

  9. Microfollicular thyroid adenoma and congenital goitrous hypothyroidism.

    OpenAIRE

    Alabbasy, A J; Delbridge, L.; Eckstein, R; Cowell, C.; Silink, M

    1992-01-01

    Three patients with congenital goitrous hypothyroidism are reported. They were treated with adequate thyroxine replacement and developed well defined microfollicular thyroid adenomas despite being euthyroid clinically and biochemically throughout their clinical course. Patients with congenital goitrous hypothyroidism appear to be at increased risk of developing thyroid adenoma in childhood despite the use of replacement thyroxine treatment in physiological doses.

  10. Congenital Tuberculosis Complicated by Interstitial Pulmonary Emphysema

    OpenAIRE

    Singh, Tarsem; Natt, Navreet Kaur; Sharma, Manu; Singh, Harmanjit

    2014-01-01

    We report a case of congenital tuberculosis, a rare entity itself; complicated by pulmonary interstitial emphysema, thus leading to air entrapment in lungs and prolonged oxygen dependence. The diagnosis of congenital tuberculosis is often missed and under-reported due to low index of suspicion and less sensitivity of diagnostic tools.

  11. Capacity limits of spatially multiplexed free-space communication

    Science.gov (United States)

    Zhao, Ningbo; Li, Xiaoying; Li, Guifang; Kahn, Joseph M.

    2015-12-01

    Increasing the information capacity per unit bandwidth has been a perennial goal of scientists and engineers. Multiplexing of independent degrees of freedom, such as wavelength, polarization and more recently space, has been a preferred method to increase capacity in both radiofrequency and optical communication. Orbital angular momentum, a physical property of electromagnetic waves discovered recently, has been proposed as a new degree of freedom for multiplexing to achieve capacity beyond conventional multiplexing techniques, and has generated widespread and significant interest in the scientific community. However, the capacity of orbital angular momentum multiplexing has not been established or compared to other multiplexing techniques. Here, we show that orbital angular momentum multiplexing is not an optimal technique for realizing the capacity limits of a free-space communication channel and is outperformed by both conventional line-of-sight multi-input multi-output transmission and spatial-mode multiplexing.

  12. Optimum treatment of congenital cytomegalovirus infection.

    Science.gov (United States)

    Leruez-Ville, Marianne; Ville, Yves

    2016-01-01

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

  13. Congenital PCB poisoning: a reevaluation

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

  15. Cycles and Clustering in Multiplex Networks

    CERN Document Server

    Baxter, Gareth J; Dorogovtsev, Sergey N; Mendes, José F F

    2016-01-01

    In multiplex networks, cycles cannot be characterized only by their length, as edges may occur in different layers in different combinations. We define a classification of cycles by the number of edges in each layer and the number of switches between layers. We calculate the expected number of cycles of each type in the configuration model of a large sparse multiplex network. Our method accounts for the full degree distribution including correlations between degrees in different layers. In particular, we obtain the numbers of cycles of length 3 of all possible types. Using these, we give a complete set of clustering coefficients and their expected values. We show that correlations between the degrees of a vertex in different layers strongly affect the number of cycles of a given type, and the number of switches between layers. Both increase with assortative correlations and are strongly decreased by disassortative correlations. The effect of correlations on clustering coefficients is equally pronounced.

  16. Interests Diffusion on a Semantic Multiplex

    CERN Document Server

    D'Agostino, Gregorio

    2016-01-01

    Exploiting the information about members of a Social Network (SN) represents one of the most attractive and dwelling subjects for both academic and applied scientists. The community of Complexity Science and especially those researchers working on multiplex social systems are devoting increasing efforts to outline general laws, models, and theories, to the purpose of predicting emergent phenomena in SN's (e.g. success of a product). On the other side the semantic web community aims at engineering a new generation of advanced services tailored to specific people needs. This implies defining constructs, models and methods for handling the semantic layer of SNs. We combined models and techniques from both the former fields to provide a hybrid approach to understand a basic (yet complex) phenomenon: the propagation of individual interests along the social networks. Since information may move along different social networks, one should take into account a multiplex structure. Therefore we introduced the notion of ...

  17. Chicken QTL mapping by multiplex PCR

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    To facilitate rapid determination of the chromosomal location of quantitative trait loci, the current approaches to gene mapping are improved using a multiplex PCR technique. The high-throughput linkage analysis method described here allows selection of 178 from 328 microsatellite markers through the multiplex PCR method combined with the semi-automatic fluorescence-labeled DNA analysis technology. Those polymorphism markers are distributed on 23 autosomes and one sex chromosome (chromosome Z), covering 3080cM genetic distance. The average marker density is 18cM, dispersed into 30 different sets. These selected polymorphism microsatellite markers segregate with the family members, following the Mendel's heritage laws, and are very useful for chicken linkage map analysis as well as for the research on some important economic quantitative characters of chicken.

  18. Magnetically Multiplexed Heating of Single Domain Nanoparticles

    CERN Document Server

    Christiansen, Michael G; Anikeeva, Polina

    2014-01-01

    Selective hysteretic heating of multiple collocated sets of single domain magnetic nanoparticles (SDMNPs) by alternating magnetic fields (AMFs) may offer a useful tool for biomedical applications. The possibility of magnetothermal multiplexing has not yet been realized, in part due to prevalent use of linear response theory to model SDMNP heating in AMFs. Predictive successes of dynamic hysteresis (DH), a more generalized model for heat dissipation by SDMNPs, are observed experimentally with detailed calorimetry measurements performed at varied AMF amplitudes and frequencies. The DH model suggests that specific driving conditions play an underappreciated role in determining optimal material selection strategies for high heat dissipation. Motivated by this observation, magnetothermal multiplexing is theoretically predicted and empirically demonstrated for the first time by selecting SDMNPs with properties that suggest optimal hysteretic heat dissipation at dissimilar AMF driving conditions. This form of multip...

  19. Multiplex congruence network of natural numbers

    CERN Document Server

    Yan, Xiao-Yong; Chen, Guan-Rong; Shi, Ding-Hua

    2015-01-01

    Congruence theory has many applications in physical, social, biological and technological systems. Congruence arithmetic has been a fundamental tool for data security and computer algebra etc.. However, much less attention was devoted to the topological features of congruence relations among natural numbers. Here, we explore the congruence relations in the setting of a multiplex network and unveil some unique and outstanding properties of the multiplex congruence network. Analytical results show that every layer therein is a sparse and heterogeneous subnetwork with a scale-free topology. Counterintuitively, every layer has an extremely strong controllability in spite of its scale-free structure that is usually difficult to control. Another amazing feature is that the controllability is robust against targeted attacks to critical nodes but vulnerable to random failures, which also differs from normal scale-free networks. The multi-chain structure with a small number of chain roots arising from each layer accou...

  20. Enzyme-based multiplexer and demultiplexer.

    Science.gov (United States)

    Arugula, Mary A; Bocharova, Vera; Halámek, Jan; Pita, Marcos; Katz, Evgeny

    2010-04-22

    A digital 2-to-1 multiplexer and a 1-to-2 demultiplexer were mimicked by biocatalytic reactions involving concerted operation of several enzymes. Using glucose oxidase (GOx) and laccase (Lac) as the data input signals and variable pH as the addressing signal, ferrocyanide oxidation in the output channel was selectively activated by one from two inputs, thus mimicking the multiplexer operation. A demultiplexer based on the enzyme system composed of GOx, glucose dehydrogenase (GDH) and horseradish peroxidase (HRP) allowed selective activation of different output channels (oxidation of ferrocyanide or reduction of NAD(+)) by the glucose input. The selection of the output channel was controlled by the addressing input of NAD(+). The designed systems represent important novel components of future branched enzyme networks processing biochemical signals for biosensing and bioactuating.

  1. Spin and wavelength multiplexed nonlinear metasurface holography

    Science.gov (United States)

    Ye, Weimin; Zeuner, Franziska; Li, Xin; Reineke, Bernhard; He, Shan; Qiu, Cheng-Wei; Liu, Juan; Wang, Yongtian; Zhang, Shuang; Zentgraf, Thomas

    2016-06-01

    Metasurfaces, as the ultrathin version of metamaterials, have caught growing attention due to their superior capability in controlling the phase, amplitude and polarization states of light. Among various types of metasurfaces, geometric metasurface that encodes a geometric or Pancharatnam-Berry phase into the orientation angle of the constituent meta-atoms has shown great potential in controlling light in both linear and nonlinear optical regimes. The robust and dispersionless nature of the geometric phase simplifies the wave manipulation tremendously. Benefitting from the continuous phase control, metasurface holography has exhibited advantages over conventional depth controlled holography with discretized phase levels. Here we report on spin and wavelength multiplexed nonlinear metasurface holography, which allows construction of multiple target holographic images carried independently by the fundamental and harmonic generation waves of different spins. The nonlinear holograms provide independent, nondispersive and crosstalk-free post-selective channels for holographic multiplexing and multidimensional optical data storages, anti-counterfeiting, and optical encryption.

  2. Multiplexing Short Primers for Viral Family PCR

    Energy Technology Data Exchange (ETDEWEB)

    Gardner, S N; Hiddessen, A L; Hara, C A; Williams, P L; Wagner, M; Colston, B W

    2008-06-26

    We describe a Multiplex Primer Prediction (MPP) algorithm to build multiplex compatible primer sets for large, diverse, and unalignable sets of target sequences. The MPP algorithm is scalable to larger target sets than other available software, and it does not require a multiple sequence alignment. We applied it to questions in viral detection, and demonstrated that there are no universally conserved priming sequences among viruses and that it could require an unfeasibly large number of primers ({approx}3700 18-mers or {approx}2000 10-mers) to generate amplicons from all sequenced viruses. We then designed primer sets separately for each viral family, and for several diverse species such as foot-and-mouth disease virus, hemagglutinin and neuraminidase segments of influenza A virus, Norwalk virus, and HIV-1.

  3. Integrated mode converter for mode division multiplexing

    Science.gov (United States)

    Perez-Galacho, Diego; Alonso-Ramos, Carlos Alberto; Marris-Morini, Delphine; Vakarin, Vladyslav; Le Roux, Xavier; Ortega-Moñux, Alejandro; Wangüemert-Perez, Juan Gonzalo; Vivien, Laurent

    2016-05-01

    The ever growing demands of bandwidth in optical communication systems are making traditional Wavelength Division Multiplexing (WDM) based systems to reach its limit. In order to cope with future bandwidth demand is necessary to use new levels of orthogonality, such as the waveguide mode or the polarization state. Mode Division Multiplexing (MDM) has recently attracted attention as a possible solution to increase aggregate bandwidth. In this work we discuss the proposition a of mode converter that can cover the whole C-Band of optical communications. The Mode Converter is based on two Multimode Interference (MMI) couplers and a phase shifter. Insertion loss (IL) below 0.2 dB and Extinction ratio (ER) higher than 20 dB in a broad bandwidth range of 1.5 μm to 1.6 μm have been estimated. The total length of the device is less than 30 μm.

  4. DAB: Multiplex and system support features

    Science.gov (United States)

    Riley, J. L.

    This Report describes the multiplex and system support features of the Eureka 147/DAB digital audio system. It sets out the requirements of all users along the broadcast chain from service providers and broadcaster through to the listener. The contents of the transmission frame are examined drawing the distinction between the main service multiplex and the provision of control information in a separate fast data channel. The concept of the DAB service structure is introduced and the inherent system flexibility for altering the service arrangement is explained. A wide range of service information features builds on those provided in earlier systems, such as RDS (Radio Data System) and is intended to make it easier for a listener to find any required service and to add a further dimension to audio broadcasting. The choices available to users in all of these areas are examined.

  5. Demand and Congestion in Multiplex Transportation Networks

    Science.gov (United States)

    al-Awwad, Zeyad; Jiang, Shan; González, Marta C.

    2016-01-01

    Urban transportation systems are multimodal, sociotechnical systems; however, while their multimodal aspect has received extensive attention in recent literature on multiplex networks, their sociotechnical aspect has been largely neglected. We present the first study of an urban transportation system using multiplex network analysis and validated Origin-Destination travel demand, with Riyadh’s planned metro as a case study. We develop methods for analyzing the impact of additional transportation layers on existing dynamics, and show that demand structure plays key quantitative and qualitative roles. There exist fundamental geometrical limits to the metro’s impact on traffic dynamics, and the bulk of environmental accrue at metro speeds only slightly faster than those planned. We develop a simple model for informing the use of additional, “feeder” layers to maximize reductions in global congestion. Our techniques are computationally practical, easily extensible to arbitrary transportation layers with complex transfer logic, and implementable in open-source software. PMID:27657738

  6. Microgels for multiplex and direct fluorescence detection

    Science.gov (United States)

    Causa, Filippo; Aliberti, Anna; Cusano, Angela M.; Battista, Edmondo; Netti, Paolo A.

    2015-05-01

    Blood borne oligonucleotides fragments contain useful clinical information whose detection and monitoring represent the new frontier in liquid biopsy as they can transform the current diagnosis procedure. For instance, recent studies have identified a new class of circulating biomarkers such as s miRNAs, and demonstrated that changes in their concentration are closely associated with the development of cancer and other pathologies. However, direct detection of miRNAs in body fluids is particularly challenging and demands high sensitivity -concentration range between atto to femtomolarspecificity, and multiplexing Here we report on engineered multifunctional microgels and innovative probe design for a direct and multiplex detection of relevant clinical miRNAs in fluorescence by single particle assay. Polyethyleneglycol-based microgels have a coreshell architecture with two spectrally encoded fluorescent dyes for multiplex analyses and are endowed with fluorescent probes for miRNA detection. Encoding and detection fluorescence signals are distinguishable by not overlapping emission spectra. Tuneable fluorescence probe conjugation and corresponding emission confinement on single microgel allows for enhanced target detection. Such suspension array has indeed high selectivity and sensitivity with a detection limit of 10-15 M and a dynamic range from 10-9 to 10-15 M. We believe that sensitivity in the fM concentration range, signal background minimization, multiplexed capability and direct measurement of such microgels will translate into diagnostic benefits opening up new roots toward liquid biopsy in the context of point-of-care testing through an easy and fast detection of sensitive diagnostic biomarkers directly in serum.

  7. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie;

    2013-01-01

    for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...... the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also...

  8. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    of 23.9 per 1,000 births for 2003-2007. 80% were livebirths. 2.5% of livebirths with congenital anomaly died in the first week of life. 2.0% were stillbirths or fetal deaths from 20 weeks gestation. 17.6% of all cases were terminations of pregnancy following prenatal diagnosis (TOPFA). Thus, congenital...... anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...

  9. Prenatal sonographic diagnosis of congenital varicella syndrome.

    Science.gov (United States)

    Tongsong, Theera; Srisupundit, Kasemsri; Traisrisilp, Kuntharee

    2012-01-01

    Congenital varicella syndrome is a rare disorder occurring in less than 1% of maternal varicella during early pregnancy but is associated with high fetal morbidity and mortality. This case report aimed to describe the sonographic features of congenital varicella syndrome following maternal varicella. Well-documented maternal chicken pox was made at 12 weeks of gestation and prenatal ultrasound was performed at 16 weeks. Striking sonographic features included hydropic changes and disseminated calcifications in multiple organs, especially liver and myocardium. Elective termination of pregnancy was done at 17 weeks. The presence of disseminated calcifications could suggest the diagnosis of congenital varicella syndrome. PMID:22323269

  10. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  11. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie;

    2014-01-01

    -2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  12. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  13. Congenital epulis of the newborn

    Directory of Open Access Journals (Sweden)

    R Mahesh Kumar

    2015-01-01

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

  14. Congenital duplication of the gallbladder.

    Science.gov (United States)

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

    2006-03-01

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

  15. X-linked congenital retinoschisis.

    Science.gov (United States)

    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.

  16. Multiplex congruence network of natural numbers

    Science.gov (United States)

    Yan, Xiao-Yong; Wang, Wen-Xu; Chen, Guan-Rong; Shi, Ding-Hua

    2016-03-01

    Congruence theory has many applications in physical, social, biological and technological systems. Congruence arithmetic has been a fundamental tool for data security and computer algebra. However, much less attention was devoted to the topological features of congruence relations among natural numbers. Here, we explore the congruence relations in the setting of a multiplex network and unveil some unique and outstanding properties of the multiplex congruence network. Analytical results show that every layer therein is a sparse and heterogeneous subnetwork with a scale-free topology. Counterintuitively, every layer has an extremely strong controllability in spite of its scale-free structure that is usually difficult to control. Another amazing feature is that the controllability is robust against targeted attacks to critical nodes but vulnerable to random failures, which also differs from ordinary scale-free networks. The multi-chain structure with a small number of chain roots arising from each layer accounts for the strong controllability and the abnormal feature. The multiplex congruence network offers a graphical solution to the simultaneous congruences problem, which may have implication in cryptography based on simultaneous congruences. Our work also gains insight into the design of networks integrating advantages of both heterogeneous and homogeneous networks without inheriting their limitations.

  17. Emergence of Multiplex Communities in Collaboration Networks.

    Directory of Open Access Journals (Sweden)

    Federico Battiston

    Full Text Available Community structures in collaboration networks reflect the natural tendency of individuals to organize their work in groups in order to better achieve common goals. In most of the cases, individuals exploit their connections to introduce themselves to new areas of interests, giving rise to multifaceted collaborations which span different fields. In this paper, we analyse collaborations in science and among movie actors as multiplex networks, where the layers represent respectively research topics and movie genres, and we show that communities indeed coexist and overlap at the different layers of such systems. We then propose a model to grow multiplex networks based on two mechanisms of intra and inter-layer triadic closure which mimic the real processes by which collaborations evolve. We show that our model is able to explain the multiplex community structure observed empirically, and we infer the strength of the two underlying social mechanisms from real-world systems. Being also able to correctly reproduce the values of intra-layer and inter-layer assortativity correlations, the model contributes to a better understanding of the principles driving the evolution of social networks.

  18. Multiplex congruence network of natural numbers.

    Science.gov (United States)

    Yan, Xiao-Yong; Wang, Wen-Xu; Chen, Guan-Rong; Shi, Ding-Hua

    2016-03-31

    Congruence theory has many applications in physical, social, biological and technological systems. Congruence arithmetic has been a fundamental tool for data security and computer algebra. However, much less attention was devoted to the topological features of congruence relations among natural numbers. Here, we explore the congruence relations in the setting of a multiplex network and unveil some unique and outstanding properties of the multiplex congruence network. Analytical results show that every layer therein is a sparse and heterogeneous subnetwork with a scale-free topology. Counterintuitively, every layer has an extremely strong controllability in spite of its scale-free structure that is usually difficult to control. Another amazing feature is that the controllability is robust against targeted attacks to critical nodes but vulnerable to random failures, which also differs from ordinary scale-free networks. The multi-chain structure with a small number of chain roots arising from each layer accounts for the strong controllability and the abnormal feature. The multiplex congruence network offers a graphical solution to the simultaneous congruences problem, which may have implication in cryptography based on simultaneous congruences. Our work also gains insight into the design of networks integrating advantages of both heterogeneous and homogeneous networks without inheriting their limitations.

  19. Emergence of Chimera in Multiplex Network

    Science.gov (United States)

    Ghosh, Saptarshi; Jalan, Sarika

    2016-06-01

    Chimera is a relatively new emerging phenomenon where coexistence of synchronous and asynchronous states is observed in symmetrically coupled dynamical units. We report the observation of the chimera state in multiplex networks where individual layer is represented by 1-d lattice with nonlocal interactions. While, multiplexing does not change the type of the chimera state and retains the multi-chimera state displayed by the isolated networks, it changes the regions of the incoherence. We investigate the emergence of coherent-incoherent bifurcation upon varying the control parameters, namely, the coupling strength and the network size. Additionally, we investigate the effect of initial condition on the dynamics of the chimera state. Using a measure based on the differences between the neighboring nodes which distinguishes smooth and nonsmooth spatial profiles, we find the critical coupling strength for the transition to the chimera state. Observing chimera in a multiplex network with one-to-one inter layer coupling is important to gain insight to many real world complex systems which inherently posses multilayer architecture.

  20. Emergence of Multiplex Communities in Collaboration Networks.

    Science.gov (United States)

    Battiston, Federico; Iacovacci, Jacopo; Nicosia, Vincenzo; Bianconi, Ginestra; Latora, Vito

    2016-01-01

    Community structures in collaboration networks reflect the natural tendency of individuals to organize their work in groups in order to better achieve common goals. In most of the cases, individuals exploit their connections to introduce themselves to new areas of interests, giving rise to multifaceted collaborations which span different fields. In this paper, we analyse collaborations in science and among movie actors as multiplex networks, where the layers represent respectively research topics and movie genres, and we show that communities indeed coexist and overlap at the different layers of such systems. We then propose a model to grow multiplex networks based on two mechanisms of intra and inter-layer triadic closure which mimic the real processes by which collaborations evolve. We show that our model is able to explain the multiplex community structure observed empirically, and we infer the strength of the two underlying social mechanisms from real-world systems. Being also able to correctly reproduce the values of intra-layer and inter-layer assortativity correlations, the model contributes to a better understanding of the principles driving the evolution of social networks. PMID:26815700

  1. Multiplex congruence network of natural numbers.

    Science.gov (United States)

    Yan, Xiao-Yong; Wang, Wen-Xu; Chen, Guan-Rong; Shi, Ding-Hua

    2016-01-01

    Congruence theory has many applications in physical, social, biological and technological systems. Congruence arithmetic has been a fundamental tool for data security and computer algebra. However, much less attention was devoted to the topological features of congruence relations among natural numbers. Here, we explore the congruence relations in the setting of a multiplex network and unveil some unique and outstanding properties of the multiplex congruence network. Analytical results show that every layer therein is a sparse and heterogeneous subnetwork with a scale-free topology. Counterintuitively, every layer has an extremely strong controllability in spite of its scale-free structure that is usually difficult to control. Another amazing feature is that the controllability is robust against targeted attacks to critical nodes but vulnerable to random failures, which also differs from ordinary scale-free networks. The multi-chain structure with a small number of chain roots arising from each layer accounts for the strong controllability and the abnormal feature. The multiplex congruence network offers a graphical solution to the simultaneous congruences problem, which may have implication in cryptography based on simultaneous congruences. Our work also gains insight into the design of networks integrating advantages of both heterogeneous and homogeneous networks without inheriting their limitations. PMID:27029650

  2. GORDON SYNDROME: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Rita

    2015-03-01

    Full Text Available BACKGROUND: Gordon Syndrome is an extremely rare disorder and it is part of a group of genetic disorders known as Arthrogryposis multiplex congenita. There are congenital contractures in at least two or more areas of body. Gordon Syndrome is characterized by congenital Camptodactyly, Clubfoot and Cleft Palate. CASE CHARACTERISTICS: One month female baby presented with congenital distal contra ctures in hands ( C amptodactyly, talipes equinovarus deformity in both lower limbs ( C lub feet, hyperextension of left leg at knee joint, central cleft palate, oral thrush. INTERVENTION: Treatment of oral thrush, feeding advice and physiotherapy. OUTCOME: Relieved of oral thrush, weight gain started and attached to Plastic Surgery, Orthopedic and Physiotherapy Specialties. MESSAGE: Sporadic cases of this rare disorder do occur and not many cases have been reported from India.

  3. Time division multiplexed orbital angular momentum access system

    Science.gov (United States)

    Shi, Jianyang; Fang, Yuan; Chi, Nan

    2016-03-01

    We propose and experimentally demonstrate time division multiplexed orbital angular momentum (OAM) access system to increase transmission capacity and spectral efficiency. In this system, data carried on different time tributaries share the same OAM mode. Multiple time division multiplexed OAM modes are multiplexed to realize two-dimensional (time dimension and OAM dimension) multiplexing. Therefore, the capacity and spectral efficiency of the access system will increase. The orthogonality between optical time division multiplexing (OTDM) and OAM techniques is also verified in our experiment. In a proof-of-concept experiment, 2×5-Gbps return-to-zero signal over OAM mode +4 is transmitted and investigated. The bit error ratio performance after transmission in this system can be smaller than 1×10-9. Results show that the proposed time division multiplexed OAM access system is suitable for future broadband access network.

  4. Polymicrogyria and Congenital Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Grant S. Schulert

    2011-12-01

    Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

  5. Congenital multifocal osteomyelitis at 24 weeks' gestation

    International Nuclear Information System (INIS)

    We report an extremely rare case of congenital nonsyphilitic osteomyelitis in a very preterm infant, providing a unique illustration of the radiological appearances at birth, which may serve as a reference to facilitate diagnosis. (orig.)

  6. Brain MRI Findings in Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-03-01

    Full Text Available Brain magnetic resonance imaging (MRI findings in 13 patients with congenital muscular dystrophy (MDCIC and Fukutin-related protein (FKRP gene mutations were retrospectively reviewed in a study at Hammersmith Hospital, London, UK, and European centers.

  7. Genetics Home Reference: congenital myasthenic syndrome

    Science.gov (United States)

    ... Advocacy Resources (2 links) Muscular Dystrophy Association Myasthenia Gravis Foundation of America: Congenital Myasthenia GeneReviews (1 link) ... for professional medical care or advice. Users with questions about a personal health condition should consult with ...

  8. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... Tools & Resources Stroke More Congenital Heart Defects and Physical Activity Updated:Apr 19,2016 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  9. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. Review. Citation ... ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. Epub ...

  10. Communicability reveals a transition to coordinated behavior in multiplex networks

    Science.gov (United States)

    Estrada, Ernesto; Gómez-Gardeñes, Jesús

    2014-04-01

    We analyze the flow of information in multiplex networks by means of the communicability function. First, we generalize this measure from its definition from simple graphs to multiplex networks. Then, we study its relevance for the analysis of real-world systems by studying a social multiplex where information flows using formal-informal channels and an air transportation system where the layers represent different air companies. Accordingly, the communicability, which is essential for the good performance of these complex systems, emerges at a systemic operation point in the multiplex where the performance of the layers operates in a coordinated way very differently from the state represented by a collection of unconnected networks.

  11. Communicability reveals a transition to coordinated behavior in multiplex networks

    CERN Document Server

    Estrada, Ernesto

    2013-01-01

    We analyse the flow of information in multiplex networks by means of the communicability function. First, we generalize this measure from its definition from simple graphs to multiplex networks. Then, we study its relevance for the analysis of real-world systems by studying a social multiplex where information flows using formal/informal channels and an air transportation system where the layers represent different air companies. Accordingly, the communicability, which is essential for the good performance of these complex systems, emerges at a systemic operation point in the multiplex where the performance of the layers operates in a coordinated way very differently from the state represented by a collection of unconnected networks.

  12. Congenital radioulnar synostosis – case report

    International Nuclear Information System (INIS)

    Congenital radioulnar synostosis is a rare malformation of the upper limb, with functional limitations of the limb. A 10-year-old child with pain and restricted mobility of the elbow joint was admitted to the hospital. Plain film radiography and CT examination was performed. Radiological examinations showed a congenital radioulnar synostosis. The child underwent surgical treatment – derotational osteotomy. Diagnostic imaging including computed tomography with three-dimentional (3D) reconstructions, preceding surgery enables planning of the surgical treatment

  13. Energy expenditure in congenital heart disease.

    OpenAIRE

    Barton, J S; Hindmarsh, P C; Scrimgeour, C M; Rennie, M J; Preece, M A

    1994-01-01

    Growth failure is a well recognised consequence of severe congenital heart disease. Total daily energy expenditure (TDEE) was investigated in eight infants with severe congenital heart disease to determine whether an increase in this parameter is an important factor in their failure to thrive, and to estimate the energy intake that would be required to allow normal growth. The infants were studied over a seven day period before surgery using the doubly labelled water method. Growth failure wa...

  14. Confirming congenital hypothyroidism identified from neonatal screening.

    OpenAIRE

    Foo, A.; Leslie, H.; Carson, D. J.

    2002-01-01

    All patients identified in the neonatal screening programme for congenital hypothyroidism in Northern Ireland between 1983 and 1993 were reviewed. 131 infants were recalled because of TSH elevation of whom 85 proved to have true permanent congenital hypothyroidism, while 44 had transient TSH elevation and 2 cases died before the diagnosis could be confirmed. TSH elevation at presentation was milder in the transient group and these infants were more likely to be unwell and/or suffering from co...

  15. CONGENITAL DYSERYTHROPOIETIC ANEMIA: AN ETIOPATHOLOGICAL STUDY

    OpenAIRE

    Vinod Kumar; Narahari; Radhika Krishna; Mrs. Geetha; Bheemavathi; Ramani

    2015-01-01

    AIMS To evaluate the role of blood and bone marrow findings in the diagnosis of congenital dyserythropoietic anaemias type I and type II. SETTINGS AND DESIGN Dyserythropoietic anaemia is suspected when there is a suboptimal reticulocyte response for the degree of anaemia. Congenital dyserythropoetic anaemias are a group of rare hereditary disorders of hematopoiesis. It is believed that CDA is often under diagnosed. Knowledge of CDA workup in a patient of haemolyti...

  16. ABNORMALITIES OF ERG IN CONGENITAL ANIRIDIA

    Institute of Scientific and Technical Information of China (English)

    1991-01-01

    Congenital aniridia is generally associated with nystagmus, corneal pannus, cataract, ectopia lentis, glaucoma, macular hypoplasia, optic nerve hypoplasia and compromised visual function. Many theories have been proposed, including a failure in the development of the neural ectoderm and/or an aberrant development of mesoderm. We observed the ERG from 19 patients with congenital aniridia. Fourteen patients had abnormal ERG, including the reduced a wave trough under dark adapted red stimuli with dark adap...

  17. Perinatal cardiac function in congenital diaphragmatic hernia

    OpenAIRE

    Baptista, Maria João Ribeiro Leite

    2008-01-01

    Tese de Doutoramento Ciências da Saúde – Ciências Biológicas e Biomédicas Congenital diaphragmatic hernia (CDH) is a congenital condition with variable illness severity that usually requires complex and multidisciplinary care. The physiologic consequences of this defect may be mild and minimally symptomatic at birth, but almost half of CDH infants present with severe forms of the disease, with poor outcome and extremely high mortality, despite aggressive treatment even in ex...

  18. Solitary ulcerated congenital giant juvenile xanthogranuloma

    Directory of Open Access Journals (Sweden)

    Su Yuen Ng

    2015-01-01

    Full Text Available A 3-month-old female patient with a giant ulcerated nodule over the back since birth was diagnosed as congenital giant juvenile xanthogranuloma (JXG based on clinical and histopathological examination. Congenital giant JXG with ulceration at birth is a rare presentation of JXG and commonly misdiagnosed. This case emphasizes the importance of being aware of the myriad presentations of JXG in order to make a correct diagnosis and avoid unnecessary investigations or treatment.

  19. CONGENITAL RADIAL DYSPLASIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkatram Reddy

    2015-08-01

    Full Text Available Congenital radial dysplasia, also referred to as radial club hand , means deficiency along the preaxial or radial side of the extremity. It ranges from hypoplasia of the thumb to variou s degrees of radial hypoplasia. We present one such rare case of type 4 congenital unilateral isolated radial dysplasia with carpel anomaly , reported to our department in SVS medical C ollege, Mahabubanagar, Telangana state

  20. Prenatal diagnosis of congenital mesoblastic nephroma

    OpenAIRE

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-01-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass...

  1. Management of adolescents with congenital adrenal hyperplasia

    OpenAIRE

    Merke, Deborah P.; Poppas, Dix P.

    2013-01-01

    The management of congenital adrenal hyperplasia involves suppression of adrenal androgen production, in addition to treatment of adrenal insufficiency. Management of adolescents with congenital adrenal hyperplasia is especially challenging because changes in the hormonal milieu during puberty can lead to inadequate suppression of adrenal androgens, psychosocial issues often affect adherence to medical therapy, and sexual function plays a major part in adolescence and young adulthood. For the...

  2. Transmission qualities of natural lines of mine telecommunication network in the aspect of multiplexing

    Energy Technology Data Exchange (ETDEWEB)

    Penkala, E.

    1982-10-01

    The parameters of natural lines of mine telecommunication cables which are essential for multiplexing are discussed. It is shown that a method of time multiplexing permits better use to be made of line capacity than does frequency multiplexing.

  3. [Aftereffects of congenital infections in infants].

    Science.gov (United States)

    Burdzenidze, E; Zhvania, M

    2006-12-01

    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also. PMID:17261890

  4. Glaucoma after Congenital Cataract Surgery

    Directory of Open Access Journals (Sweden)

    Mahmoodreza Panahi Bazaz

    2014-05-01

    Full Text Available Purpose: To determine the incidence and risk factors associated with glaucoma following congenital cataract surgery (CCS in children under age of 15 Methods: This prospective cohort (since 2006 consisted of children less than 15 years of age who underwent cataract surgery with or without intraocular lens (IOL implantation. The role of the following factors on the development of glaucoma after CCS including age at surgery, gender, laterality of the cataract, IOL implantation, congenital ocular anomalies, intra- and postoperative complications, length of follow-up, central corneal thickness (CCT as well as the effect of the age of onset, time to development of glaucoma, and response to treatment were evaluated. Results: Overall, 161 eyes of 96 patients were included in this study of which 28 eyes developed glaucoma. Incidence of glaucoma was 17.4%. Mean±SD age at surgery was 9.3±6.9 (range, 1-24 months in glaucomatous and 40.4±41.1 (range, 1 m-13.6 year months in non-glaucomatous group (p<0.001. All glaucoma patients had the operation under two years of age. In group 1, 9 (60% and in group 2, 24 (30% patients were female (p=0.001. In group 1, 17 eyes (60.7% and in the group 2, 41 eyes (30.8% were aphakic (p=0.001. Mean time to diagnosis of glaucoma was 111.2 days (range 30-1200 days. Mean follow-up time was 3.1 years (range, 1-6 years. In 22 (78.6% eyes glaucoma was diagnosed within six months after surgery. Glaucoma was controlled with medications in 23 eyes (82% and with surgery in five eyes. Conclusion: In this study the incidence of glaucoma after CCS was 17.4% over a follow-up period of six years. Younger age at the time of lensectomy increases the risk of secondary glaucoma. IOL implantation may protect against glaucoma. Female gender was affected more than male.

  5. Front-end Multiplexing - applied to SQUID multiplexing : Athena X-IFU and QUBIC experiments

    CERN Document Server

    Prêle, Damien

    2015-01-01

    As we have seen for digital camera market and a sensor resolution increasing to "megapixels", all the scientific and high-tech imagers (whatever the wave length - from radio to X-ray range) tends also to always increases the pixels number. So the constraints on front-end signals transmission increase too. An almost unavoidable solution to simplify integration of large arrays of pixels is front-end multiplexing. Moreover, "simple" and "efficient" techniques allow integration of read-out multiplexers in the focal plane itself. For instance, CCD (Charge Coupled Device) technology has boost number of pixels in digital camera. Indeed, this is exactly a planar technology which integrates both the sensors and a front-end multiplexed readout. In this context, front-end multiplexing techniques will be discussed for a better understanding of their advantages and their limits. Finally, the cases of astronomical instruments in the millimeter and in the X-ray ranges using SQUID (Superconducting QUantum Interference Device...

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

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

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

  7. Multiplexed Western Blotting Using Microchip Electrophoresis.

    Science.gov (United States)

    Jin, Shi; Furtaw, Michael D; Chen, Huaxian; Lamb, Don T; Ferguson, Stephen A; Arvin, Natalie E; Dawod, Mohamed; Kennedy, Robert T

    2016-07-01

    Western blotting is a commonly used protein assay that combines the selectivity of electrophoretic separation and immunoassay. The technique is limited by long time, manual operation with mediocre reproducibility, and large sample consumption, typically 10-20 μg per assay. Western blots are also usually used to measure only one protein per assay with an additional housekeeping protein for normalization. Measurement of multiple proteins is possible; however, it requires stripping membranes of antibody and then reprobing with a second antibody. Miniaturized alternatives to Western blot based on microfluidic or capillary electrophoresis have been developed that enable higher-throughput, automation, and greater mass sensitivity. In one approach, proteins are separated by electrophoresis on a microchip that is dragged along a polyvinylidene fluoride membrane so that as proteins exit the chip they are captured on the membrane for immunoassay. In this work, we improve this method to allow multiplexed protein detection. Multiple injections made from the same sample can be deposited in separate tracks so that each is probed with a different antibody. To further enhance multiplexing capability, the electrophoresis channel dimensions were optimized for resolution while keeping separation and blotting times to less than 8 min. Using a 15 μm deep × 50 μm wide × 8.6 cm long channel, it is possible to achieve baseline resolution of proteins that differ by 5% in molecular weight, e.g., ERK1 (44 kDa) from ERK2 (42 kDa). This resolution allows similar proteins detected by cross-reactive antibodies in a single track. We demonstrate detection of 11 proteins from 9 injections from a single Jurkat cell lysate sample consisting of 400 ng of total protein using this procedure. Thus, multiplexed Western blots are possible without cumbersome stripping and reprobing steps. PMID:27270033

  8. Congenital adrenal hyperplasia: Case report.

    Directory of Open Access Journals (Sweden)

    Jaime Avaria E.

    2013-04-01

    Full Text Available INTRODUCTION: Congenital adrenal hyperplasia (CAH is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are androgen excess and insufficiency of cortisol and mineralocorticoids. So this may manifest as a sex differentiation disorder (virilization of the external genitalia if the fetus is female and adrenal insufficiency. For diagnosis are considered the family history, clinical manifestations, measuring 17-hydroxyprogesterone levels and detection of genetic alteration. CASE REPORT: Patient with a family history of a brother with HSC brother, born with a disorder of sexual differentiation and is discharged with legal male sex. After three months develops adrenal insufficiency and was diagnosed with classical HSC salt-wasting form and determined female karyotype. DISCUSSION: The Pillars of the HSC are handling genetic counseling in families at risk, prenatal treatment with dexamethasone, postnatal glucocorticoid therapy and surgical treatment of disorders of the external genitalia, along with new research based therapy gene and the use of stem cells, requiring this way an integral view of HSC.

  9. Diagnosis of congenital fibrinogen disorders.

    Science.gov (United States)

    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.

  10. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  11. Replicator dynamics with diffusion on multiplex networks

    Science.gov (United States)

    Requejo, R. J.; Díaz-Guilera, A.

    2016-08-01

    In this study we present an extension of the dynamics of diffusion in multiplex graphs, which makes the equations compatible with the replicator equation with mutations. We derive an exact formula for the diffusion term, which shows that, while diffusion is linear for numbers of agents, it is necessary to account for nonlinear terms when working with fractions of individuals. We also derive the transition probabilities that give rise to such macroscopic behavior, completing the bottom-up description. Finally, it is shown that the usual assumption of constant population sizes induces a hidden selective pressure due to the diffusive dynamics, which favors the increase of fast diffusing strategies.

  12. Wavelength division multiplexing a practical engineering guide

    CERN Document Server

    Grobe, Klaus

    2013-01-01

    In this book, Optical Wavelength Division Multiplexing (WDM) is approached from a strictly practical and application-oriented point of view. Based on the characteristics and constraints of modern fiber-optic components, transport systems and fibers, the text provides relevant rules of thumb and practical hints for technology selection, WDM system and link dimensioning, and also for network-related aspects such as wavelength assignment and resilience mechanisms. Actual 10/40 Gb/s WDM systems are considered, and a preview of the upcoming 100 Gb/s systems and technologies for even higher bit rate

  13. Performance modeling, stochastic networks, and statistical multiplexing

    CERN Document Server

    Mazumdar, Ravi R

    2013-01-01

    This monograph presents a concise mathematical approach for modeling and analyzing the performance of communication networks with the aim of introducing an appropriate mathematical framework for modeling and analysis as well as understanding the phenomenon of statistical multiplexing. The models, techniques, and results presented form the core of traffic engineering methods used to design, control and allocate resources in communication networks.The novelty of the monograph is the fresh approach and insights provided by a sample-path methodology for queueing models that highlights the importan

  14. A simple multiforce layout for multiplex networks

    CERN Document Server

    Fatemi, Zahra; Magnani, Matteo

    2016-01-01

    We introduce multiforce, a force-directed layout for multiplex networks, where the nodes of the network are organized into multiple layers and both in-layer and inter-layer relationships among nodes are used to compute node coordinates. The proposed approach generalizes existing work, providing a range of intermediate layouts in-between the ones produced by known methods. Our experiments on real data show that multiforce can keep nodes reasonably aligned across different layers without significantly affecting the internal layout of each layer.

  15. The effect analysis of functional anaplasty in the position of arthrogryposis during the late period of super large burn%特大面积烧伤后期关节挛缩畸型部位功能整形后疗效分析

    Institute of Scientific and Technical Information of China (English)

    刘洪琪; 李德水; 侯晓华; 邢玉玺; 邢同义; 陈志军

    2002-01-01

    To discuss the effect of application of de cell xenoma dermal and chin auto- pachyderma in functional position anaplasty during the late period of super- large burn.Method To incise eschar and cograft of de- cell xenoma dermal and chin auto pachyderma on 15 arthrogryposis and deformation positions of 4 super- large burns and follow up for the effect regularly.Result 7 skin grafts were living entirely, 5 parts were healing in the short time by dressing change, 3 parts were healing by complement skingrafting,the mean survival rate of cograft was (94.9± 5.5)% .Conclusion The local appearance was smooth and well- arranged,the character was soft and the function was well.The effect was near to large- leaf auto intermediate split thickness skin graft and can reach the purpose of functional restoration.

  16. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    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. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  17. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    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

  18. Preliminary study of visual effect of multiplex hologram

    Science.gov (United States)

    Fu, Huaiping; Xiong, Bingheng; Yang, Hong; Zhang, Xueguo

    2004-06-01

    The process of any movement of real object can be recorded and displayed by a multiplex holographic stereogram. An embossing multiplex holographic stereogram and a multiplex rainbow holographic stereogram have been made by us, the multiplex rainbow holographic stereogram reconstructs the dynamic 2D line drawing of speech organs, the embossing multiplex holographic stereogram reconstructs the process of an old man drinking water. In this paper, we studied the visual result of an embossing multiplex holographic stereogram made with 80 films of 2-D pictures. Forty-eight persons of aged from 13 to 67 were asked to see the hologram and then to answer some questions about the feeling of viewing. The results indicate that this kind of holograms could be accepted by human visual sense organ without any problem. This paper also discusses visual effect of the multiplex holography stereograms base on visual perceptual psychology. It is open out that the planar multiplex holograms can be recorded and present the movement of real animal and object. Not only have the human visual perceptual constancy for shape, just as that size, color, etc... but also have visual perceptual constancy for binocular parallax.

  19. Magnetic Forces and DNA Mechanics in Multiplexed Magnetic Tweezers

    NARCIS (Netherlands)

    De Vlaminck, I.; Henighan, T.; Van Loenhout, M.T.J.; Burnham, D.R.; Dekker, C.

    2012-01-01

    Magnetic tweezers (MT) are a powerful tool for the study of DNA-enzyme interactions. Both the magnet-based manipulation and the camera-based detection used in MT are well suited for multiplexed measurements. Here, we systematically address challenges related to scaling of multiplexed magnetic tweeze

  20. Few-mode fibers for mode division multiplexing transmission

    Science.gov (United States)

    Kubota, Hirokazu; Morioka, Toshio

    2012-01-01

    A study is presented of the fiber properties needed to achieve 10-mode multiplexing transmission. A combination of MIMO processing with optical LP mode separation is proposed to prevent the need for massive MIMO computation. The impact of mode crosstalk, differential mode delay, and the mode dependent loss of the few-mode fibers on mode multiplexing are discussed.

  1. Wavelength division multiplexing WDM, CWDM and DWDM applications

    Science.gov (United States)

    Vasile, Irina Bristena; Vasile, Alexandru; Luciana, Stan; Tache, Mihaela

    2007-05-01

    The fiber optics has become the most preferred media for this very large data traffic. TDM (Time Division Multiplexing) has been the most practical method to divide the significant capacity of a single fiber optics into several communication channels. This technology is still limited by the large complexity of high-flow modulation and multiplexing equipment. Presently, a complementary approach proves its potential: Wavelength-Division Multiplexing (WDM). The evolution of WDM allows now a very small spacing between channels wavelength, in nm, generating DWDM (Dense Wavelength Division Multiplexing). The networks with individual fibers including more than 100 independent optic channels, as well as those with bidirectional flow are already available on the market. CWDM (Coarse Wavelength Division Multiplexing) represents an economical application of a mature technology which may provide options where the capacity of fibers is limited.

  2. An Efficient Statistical Multiplexing Method for H.264 VBR Video Sources for Improved Traffic Smoothing

    Directory of Open Access Journals (Sweden)

    T.Raghuveera

    2010-04-01

    Full Text Available Frame level H.264/MPEG encoded VBR video traffic is highly bursty in nature because of inherent coding techniques employed. Multiplexing traffic from many VBR sources results in smoothing of generated traffic from the multiplexer, and improves Statistical Multiplexing Gain (SMG. An efficient multiplexing methodology can greatly enhance resource utilization. Performance of multiplexer can be estimated by addressing the burstiness and statistical multiplexing gain. We present here a new multiplexing method named “ERA multiplexing”, which is quite simple, faster and efficient as opposed to any other known methods like, Frame-aligned multiplexing, Frame-lag based multiplexing and random multiplexing. Our experiments have proved that ERA method is much superior in terms of smoothing the traffic and achieving better statistical multiplexing gain. We have tested the technique with high quality frame size traces of Star Wars-IV encoded using H.264/SVC and H.264/AVC to justify our claims

  3. Maintaining extensivity in evolutionary multiplex networks

    CERN Document Server

    Antonopoulos, Chris G

    2015-01-01

    In this Letter, we explore the role of network topology on its extensive character. We study analytically and numerically how the topology contributes to maintaining extensivity of entropy in multiplex networks, i.e. networks of subnetworks, by means of the sum of the positive Lyapunov exponents, $H_{KS}$, a quantity related to entropy. We show that extensivity relies not only on the interplay between the coupling strengths of the dynamics associated to the intra (short-range) and inter (long-range) interactions, but also on the sum of the intra-degrees of the nodes of the subnetworks. For the analytically treated networks of size $N$, if the sum of the intra-degrees (and the sum of inter-degrees) scales as $N^{\\theta+1}$, extensivity can be maintained if the intra-coupling (and the inter-coupling) strength scales as $N^{-\\theta}$, when evolution is driven by the maximization of $H_{KS}$. We then verify our analytical result by doing numerical simulations in multiplex networks formed by electrically and chemi...

  4. Metrics for the analysis of multiplex networks

    CERN Document Server

    Battiston, Federico; Latora, Vito

    2013-01-01

    Many real-world complex systems consist of a set of elementary units connected by relationships of different kinds. All such systems are better described in terms of multi-layer networks, where the links at each layer represent a different type of interaction between the same set of nodes, rather than in terms of (single-layer) networks. In this paper we present a general framework to describe and study multi-layer networks, whose links are either unweighted or weighted. In particular we propose a series of measures to characterise the multiplexity of the systems in terms of: i) basic node and link properties such as the node degree, and the edge overlap and reinforcement, ii) local properties such as the clustering coefficient and the transitivity, iii) global properties related to the navigability of the multiplex across the different layers. The measures we introduce are validated on a genuine multi-layer dataset of Indonesian terrorists, where information among 78 individuals are recorded with respect to ...

  5. Pneumatic Valve Operated by Multiplex Pneumatic Transmission

    Science.gov (United States)

    Nishioka, Yasutaka; Suzumori, Koichi; Kanda, Takefumi; Wakimoto, Shuichi

    A pneumatic system has several advantages, which are cheapness, lightweight, and reliability to human and environment. These advantages are adapted to some research areas, such as industrial lines, medical and nursing cares, and rehabilitation tools. However, the pneumatic system needs several devices; compressor, air tube, and control valve. This research aim to downsize pneumatic system. In this paper, a new method of multiplex pneumatic transmission for multi-pneumatic servo system is proposed. The valve for this system consists of two vibrators supported by springs, which was designed with simple and cheap structure. The working principle of the valve is vibrators resonance from multiplex pneumatic transmission and it is possible to work as ON/OFF valves without electric wire. Dynamic simulation was used to confirm the working principle of the resonance driving system. A prototype device confirming the principle was designed and developed based on the simulation. The experiments show that this new control system works very well to control two separated valves through single pneumatic tube.

  6. A micro-controlled universal message multiplexer

    International Nuclear Information System (INIS)

    Based on the Motorola 6800, this multiplexer is designed to provide a microprocessor development tool in the specific environment of a high energy physics laboratory. The basic philosophy of this device is to allow communication of a target (prototype) processor with a host computer under control of a human operator. The host can be an experimental on-line computer or any remote machine with a time-sharing network. It is thus possible to speed up design and debugging of a physics application program by taking advantage of the sophisticated resources usually available in a computer centre (powerful editor, large disk space, source management via ''Patchy'' etc...). In addition to the classical cross-macroassembler, a loader is available on the host for down-line loading binary code, via the multiplexer, into the prototype memory. Such a scheme is easiextended to the communication of any host interactive processing program with a data acquisition microprocessor, and provides the latter with a convenient and easily portable extension of its computing power. A typical application of this mode is described in a separate paper

  7. Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material

    DEFF Research Database (Denmark)

    Sørensen, Karina; Andersen, Paal; Larsen, Lars;

    2008-01-01

    The multiplex ligation-dependent probe amplification (MLPA) technique is a sensitive technique for relative quantification of up to 50 different nucleic acid sequences in a single reaction, and the technique is routinely used for copy number analysis in various syndromes and diseases. The aim...... of the study was to exploit the potential of MLPA when the DNA material is limited. The DNA concentration required in standard MLPA analysis is not attainable from dried blood spot samples (DBSS) often used in neonatal screening programs. A novel design of MLPA probes has been developed to permit for MLPA...... analysis on small amounts of DNA. Six patients with congenital adrenal hyperplasia (CAH) were used in this study. DNA was extracted from both whole blood and DBSS and subjected to MLPA analysis using normal and modified probes. Results were analyzed using GeneMarker and manual Excel analysis. A total...

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

    Science.gov (United States)

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

    2015-01-01

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

  9. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  10. Congenital rubella syndrome in Iran

    Directory of Open Access Journals (Sweden)

    Eftekhar Hasan

    2005-06-01

    Full Text Available Abstract Background Congenital rubella syndrome (CRS can be prevented with appropriate vaccination programs. The prevalence rates of rubella and CRS in Iran are unknown; therefore, the risk of exposure in pregnant women is not clear. The prevalence of CRS in the pre-vaccine period can be estimated by evaluating the proportion of children in the population with sensorineural hearing loss attributable to rubella. Methods This was a case-control study to estimate prevalence of CRS in Tehran (Iran by evaluating the proportion of children with sensorineural hearing loss attributable to rubella. The study used rubella antibody titer as an indicator, and compared the prevalence of rubella antibody between children with and without sensorineural hearing loss. Using these findings, the proportion of cases of sensorineural hearing loss attributable to rubella was estimated. Results A total of 225 children aged 1 to 4 years were entered into the study (113 cases and 112 controls. There was a significant difference between cases and controls with regard to rubella antibody seropositivity (19.5% vs. 8.9%, respectively, odds ratio = 2.47, 95% CI = 1.04–5.97. The proportion of sensorineural hearing loss cases attributable to rubella was found to be 12%, corresponding to a CRS prevalence of 0.2/1000. Conclusion The prevalence of CRS was approximately 0.2/1000 before rubella vaccination in Iran, Moreover; the results suggest that implementation of appropriate rubella vaccination programs could potentially prevent about 12% of cases of sensorineural hearing loss in Iranian children. This data could potentially be used as baseline data, which in conjunction with an appropriate method, to establish a surveillance system for rubella vaccination in Iran. An appropriate surveillance system is needed, because the introduction of a rubella vaccine without epidemiological data and an adequate monitoring program could result in the shifting of rubella cases to higher

  11. Cleft lip as a presentation of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Richa Gupta

    2012-01-01

    Full Text Available Congenital syphilis may present with unusual symptoms in early stages which needs to be identified for prompt treatment. Here, we present a case of 13-day-old female child with congenital syphilis presenting with cleft lip.

  12. The changing state of surgery for adult congenital heart disease

    OpenAIRE

    Monro, J

    2005-01-01

    The number of patients with adult congenital heart disease is expected to increase by 25% during this decade, so that by 2010 there will be more patients undergoing surgery for congenital heart disease over 16 years of age than under

  13. Phase-contrast MRI and applications in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, A., E-mail: adgoldberg@geisinger.edu [Department of Radiology, Geisinger Health System, Danville, PA (United States); Jha, S. [Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA (United States)

    2012-05-15

    A review of phase-contrast magnetic resonance imaging techniques, with specific application to congenital heart disease, is presented. Theory, pitfalls, advantages, and specific examples of multiple, well-described congenital heart disease presentations are discussed.

  14. Prevalence of congenitally missing permanent teeth in Iran

    Directory of Open Access Journals (Sweden)

    Mahnaz Sheikhi

    2012-01-01

    Conclusion: The prevalence of congenitally missing teeth (CMT in Iranian permanent dentition was 10.9%. The most common congenitally missing teeth were mandibular second premolar fallowed by maxillary second premolars.

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

    Science.gov (United States)

    ... 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 ...

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

    Science.gov (United States)

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

  17. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    R Vakili

    2014-04-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report: In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children, it is necessary to evaluate women before pregnancy to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.   Keywords:Congenital rickets, Vitamin D deficiency, Hypocalcemia, Seizure.  

  18. Congenital myopathies: clinical and immunohistochemical study.

    Science.gov (United States)

    Thaha, Fazil; Gayathri, N; Nalini, A

    2011-01-01

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

  19. Congenital cholesteatoma: delayed diagnosis and its consequences.

    Science.gov (United States)

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

    2010-09-01

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

  20. Prenatal diagnosis of congenital mesoblastic nephroma.

    Science.gov (United States)

    Do, A Young; Kim, Jung-Sun; Choi, Suk-Joo; Oh, Soo-Young; Roh, Cheong-Rae; Kim, Jong-Hwa

    2015-09-01

    Congenital mesoblastic nephroma is a rare renal tumor that is diagnosed during pregnancy and is associated with polyhydramnios, prematurity, and neonatal hypertension. Differential diagnoses include Wilms tumor, adrenal neuroblastoma, and other abdominal tumors. We report a case of congenital mesoblastic nephroma detected by prenatal ultrasonography as a large fetal renal mass with polyhydramnios at 32 weeks of gestation. Ultrasonography showed a 6×6-cm complex, solid, hyperechoic, round mass in the right kidney. At 35 weeks of gestation, the patient was admitted with preterm premature rupture of membranes and the baby was delivered vaginally. Postnatal ultrasonography and computed tomography showed a heterogeneous solid mass on the right kidney. At the end of the first week of life, a right nephrectomy was performed and subsequent pathological examination confirmed a cellular variant of congenital mesoblastic nephroma with a high mitotic count. Postoperative adjuvant chemotherapy was administered. The newborn was discharged in good condition. PMID:26430667

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

    OpenAIRE

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

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety co...

  2. Changes of antithroglobulin antibody in children with congenital hypothyroidism

    OpenAIRE

    Cho, Eun Mi; Kim, Uk Hyun; Choi, Byung Ho; Ko, Cheol Woo

    2013-01-01

    Purpose It has been reported that antithroglobulin (anti-TG) antibody is increased in the sera of both children with transient congenital hypothyroidism and their mothers. And transplacental transport of thyroid autoantibody was proposed as the pathogenesis of transient congenital hypothyroidism. However this is not known in nontransient congenital hypothyroidism. This study was done to see changes of anti-TG antibody in children with nontransient congenital hypothyroidism. Methods Study pati...

  3. Congenital duodenal obstruction associated with Down's syndrome presenting with hematemesis

    OpenAIRE

    Al Shahwani, Noora; Mandhan, Parkash; Elkadhi, Abdelrahman; Ali, Mansour J.; Latif, Abdel

    2013-01-01

    Congenital duodenal obstruction is usually characterized by onset of early vomiting due to high bowel obstruction. Presentation of congenital duodenal obstruction with acute gastrointestinal bleeding is very uncommon. We present an unusual case of congenital intrinsic duodenal obstruction associated with the Down's syndrome presenting with hematemesis secondary to duodenitis. This is a rare presentation of congenital duodenal obstruction associated with Down's syndrome in addition to seven ca...

  4. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  5. Multiplexity versus correlation: the role of local constraints in real multiplexes

    CERN Document Server

    Gemmetto, Valerio

    2014-01-01

    Several real-world systems can be represented as multi-layer complex networks, i.e. in terms of a superposition of various graphs, each related to a different mode of connection between nodes. Hence, the definition of proper mathematical quantities aiming at capturing the level of complexity of those systems is required. Various attempts have been made to measure the empirical dependencies between the layers of a multiplex, for both binary and weighted networks. In the simplest case, such dependencies are measured via correlation-based metrics: we show that this is equivalent to the use of completely homogeneous benchmarks specifying only global constraints, such as the total number of links in each layer. However, these approaches do not take into account the heterogeneity in the degree and strength distributions, which are instead a fundamental feature of real-world multiplexes. In this work, we compare the observed dependencies between layers with the expected values obtained from reference models that app...

  6. Recurrent congenital fibrosarcoma with heart metastases.

    Science.gov (United States)

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

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years. PMID:22217490

  7. Our experience in congenital pouch colon

    Directory of Open Access Journals (Sweden)

    Gharpure Vivek

    2007-01-01

    Full Text Available Congenital pouch colon is considered to be a malformation seen only in north india. we carried out a prospective study of congenital pouch colon from 1991 to 2005 to determine what interventions are most suited for the short and long term management of this compex malformation. anatomical details, procedures and continence outcomes were recorded. patients were managed in a private and public hospital by a single surgeon. 17 patients could be enrolled in the study. we could reconstruct 16/17 patients. with aggressive bowel management, 9/14 patients could achieve continence.

  8. Case Report: Congenital infiltrating lipomatosis of face

    International Nuclear Information System (INIS)

    Congenital infiltrating lipomatosis of the face is a rare condition characterized by diffuse fatty infiltration of the facial soft tissues. There may be muscle involvement along with associated bony hyperplasia. It is a type of lipomatous tumor that is congenital in origin; it is rare and seen usually in childhood. We recently saw an 11-year-old girl with this condition. She presented with a swelling of the right side of the face that had been present since birth; there were typical findings on plain radiographs, CT, and MRI. The patient underwent cosmetic surgery. Histopathological examination showed mature adipocytes without any capsule

  9. Paternal age and offspring congenital heart defects

    DEFF Research Database (Denmark)

    Su, Xiu Juan; Yuan, Wei; Huang, Guo Ying;

    2015-01-01

    Paternal age has been associated with offspring congenital heart defects (CHDs), which might be caused by increased mutations in the germ cell line because of cumulated cell replications. Empirical evidences, however, remain inconclusive. Furthermore, it is unknown whether all subtypes of CHDs are.......17-2.43). We observed similar results when subanalyses were restricted to children born to mothers of 27-30 years old. After taking into consideration of maternal age, our data suggested that advanced paternal age was associated with an increased prevalence of one subtype of offspring congenital heart defects...

  10. Congenital Absence of the Internal Carotid Artery

    International Nuclear Information System (INIS)

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

  11. Diagnosis and treatment of congenital heart defects

    International Nuclear Information System (INIS)

    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  12. Intelligence Quotient (IQ) in Congenital Strabismus*

    OpenAIRE

    Abbas Bagheri; Mohammad Reza Fallahi; Shima Tamannaifard; Sara Vajebmonfared; Saideh Zonozian

    2013-01-01

    Purpose: To evaluate intelligence quotient (IQ) in patients with congenital strabismus. Methods: All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. Results: During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patien...

  13. Congenital oesophageal hiatal hernia in a pug

    Directory of Open Access Journals (Sweden)

    Keeley B

    2008-06-01

    Full Text Available Abstract Congenital sliding, oesophageal or type I hiatal hernia was diagnosed in a five-month-old pug puppy presented for evaluation of dyspnoea post feeding. The diagnosis was confirmed using plain film radiography. Surgical reduction of the hernia followed by plication of the oesophageal hiatus, oesophagopexy and left flank gastropexy permitted restoration of normal function. At 12 months of age, the dog was asymptomatic. This article describes the diagnosis and treatment of a congenital type 1 oesophageal hiatal herniation with unusual clinical presentation.

  14. Congenital esophageal stenosis due to tracheobronchial remnants

    Energy Technology Data Exchange (ETDEWEB)

    Bae, Tae Yeong; Kim, In One; Yeon, Kyung Mo [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1987-10-15

    Tracheobronchial remanants and formation of cartilaginous ring are rare causes of congenital esophageal stenosis. Symptoms are nonspecific and many patients with presumed congenital esophageal stenosis subsequently have been demonstrated to have inflammatory strictures due to hiatus hernia or esophagitis. Characteristic radiological findings of this disease are linear intramural clefts projecting from the area of stenosis and these clefts represent pathologically communicating intramural cystic spaces lined by respiratory epithelium. Resistance to instrumental dilatation and the absence of inflammatory mucosal changes are characteristic endoscopic findings. Authors experienced 3 cases of tracheobronchial remnants associated with esophageal stenosis (2 cases) and esophageal duplication with tracheobronchial remnants in gastric fundus from 1974 until recently.

  15. Congenital myasthenic syndromes and transient myasthenia gravis.

    Science.gov (United States)

    Gajda, Anna; Szabó, Hajnalka; Gergev, Gyurgyinka; Karcagi, Veronika; Szabó, Nóra; Endreffy, Emoke; Túri, Sándor; Sztriha, László

    2013-05-30

    Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties. Disorders of the neuromuscular junction, such as congenital myasthenic syndromes and neonatal transient myasthenia gravis are among the aetiologies. We report on a case of congenital myasthenia caused by mutation in the long cytoplasmic loop of the epsilon subunit of the acetylcholine receptor and a neonate of a myasthenic mother diagnosed with transient myasthenia gravis. PMID:23909021

  16. Straight line closure of congenital macrostomia

    Directory of Open Access Journals (Sweden)

    Schwarz Richard

    2004-01-01

    Full Text Available The results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

  17. Pediatric congenital vertebral artery arteriovenous malformation.

    Science.gov (United States)

    Shownkeen, Harish; Bova, Davide; Chenelle, Andrew G; Origitano, Thomas C

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. PMID:12695869

  18. Pediatric congenital vertebral artery arteriovenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C. [Department of Neurologcal Surgery, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States); Bova, Davide [Department of Radiology, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States)

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

  19. Congenital bilateral perisylvian syndrome with hydrocephalus

    Directory of Open Access Journals (Sweden)

    Salih Hattapoğlu

    2012-12-01

    Full Text Available Congenital bilateral perisylvian syndrome (CBPS, whichis seen by indications of mental retardasyon, epilepsi,speech disorder and pseudobulbar palsy, is a diseasewhich comes up with genetic and non-genetic reasons.Revealing characteristic indications (like polymicrogyriawith MR imaging and clinic indications contributes makingdiagnosis. In present paper, we aimed to present 18month girl case report who diagnosed as CBPS with hydrocephaliindication. J Clin Exp Invest 2012; 3(4: 552-554Key words: Epilepsy, congenital bilateral perisylviansyndrome, polymicrogyria, hydrocephalus, pseudobulbarpalsy

  20. Delay in diagnosis of congenital anal stenosis

    Directory of Open Access Journals (Sweden)

    Elroy P. Weledji

    2016-03-01

    Full Text Available Although a minor anorectal malformation the delay in diagnosis and treatment of anal stenosis may result in significant early or late complications. Early inspection of the perineum in the neonate to pick up and correct anorectal malformation improves long term outcome but this requires proper anal examination or it could be missed. We present and discuss a case of delayed diagnosis of congenital anal stenosis (a low anorectal anomaly with an imminent colonic perforation. Severe anal stenosis will always require examination under anesthesia with graded Hegar's dilatation followed by postoperative maintenance. The Hegar dilator is thus both diagnostic and therapeutic in congenital anal stenosis.

  1. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

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

    Science.gov (United States)

    Kolb, A; Windhager, R; Chiari, C

    2015-11-01

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

  3. Acquired Congenital Malalignment of the Great Toenails

    Science.gov (United States)

    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

  4. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD bi

  5. Symptoms of Autism among Children with Congenital Deafblindness

    Science.gov (United States)

    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.…

  6. Spectrum of congenital anomalies in pregnancies with pregestational diabetes

    DEFF Research Database (Denmark)

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

    2012-01-01

    Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

  7. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of Cli

  8. Multiplexing strategies for monolithic crystal PET detector modules

    International Nuclear Information System (INIS)

    To reduce the number of output channels and associated cost in PET detectors, strategies to multiplex the signal channels have been investigated by several researchers. This work aims to find an optimal multiplexing strategy for detector modules consisting of a monolithic LYSO scintillator coupled to a 64-channel PMT. We apply simulated multiplexing strategies to measured data from two continuous miniature crystal element (cMiCE) detector modules. The strategies tested include standard methods such as row column summation and its variants, as well as new data-driven methods involving the principal components of measured data and variants of those components. The detector positioning resolution and bias are measured for each multiplexing strategy and the results are compared. The mean FWHM over the entire detector was 1.23 mm for no multiplexing (64 channels). Using 16 principal component channels yielded a mean FWHM resolution of 1.21 mm, while traditional row/column summation (16 channels) yielded 1.28 mm. Using 8 principal component output channels resulted in a resolution of 1.30 mm. Using the principal components of the calibration data to guide the multiplexing scheme appears to be a viable method for reducing the number of output data channels. Further study is needed to determine if the depth-of-interaction resolution can be preserved with this multiplexing scheme. (paper)

  9. Temporal correlations in social multiplex networks

    CERN Document Server

    Starnini, Michele; Pastor-Satorras, Romualdo

    2016-01-01

    Social interactions are composite, involve different communication layers and evolve in time. However, a rigorous analysis of the whole complexity of social networks has been hindered so far by lack of suitable data. Here we consider both the multi-layer and dynamic nature of social relations by analysing a diverse set of empirical temporal multiplex networks. We focus on the measurement and characterization of inter-layer correlations to investigate how activity in one layer affects social acts in another layer. We define observables able to detect when genuine correlations are present in empirical data, and single out spurious correlation induced by the bursty nature of human dynamics. We show that such temporal correlations do exist in social interactions where they act to depress the tendency to concentrate long stretches of activity on the same layer and imply some amount of potential predictability in the connection patterns between layers. Our work sets up a general framework to measure temporal correl...

  10. Multiplex single particle analysis in microfluidics.

    Science.gov (United States)

    Dannhauser, D; Romeo, G; Causa, F; De Santo, I; Netti, P A

    2014-10-21

    A straightforward way to measure separated micrometric sized particles in microfluidic flow is reported. The light scattering profile (LSP) of each single particle is fully characterized by using a CMOS-camera based small angle light scattering (SALS) apparatus, ranging from 2° up to 30°. To ensure controlled particle passage through the incident laser, a viscoelastic 3D alignment effect by viscoelastic induced particle migration has been implemented in a simple and cost-effective microfluidic device. Different polystyrene particle sizes are measured in microfluidic flows and the obtained scattering signatures are matched with the Lorenz-Mie based scattering theory. The results confirm the possibility of using this apparatus for real multiplex particle analyses in microfluidic particle flows.

  11. Emergence of network features from multiplexity

    CERN Document Server

    Cardillo, Alessio; Zanin, Massimiliano; Romance, Miguel; Papo, David; del Pozo, Francisco; Boccaletti, Stefano

    2012-01-01

    Many biological and man-made networked systems are characterized by the simultaneous presence of different sub-networks organized in separate layers, with links and nodes of qualitatively different types. While during the past few years theoretical studies have examined a variety of structural features of complex networks, the outstanding question is whether such features are characterizing all single layers, or rather emerge as a result of coarse-graining, i.e. when going from the multilayered to the aggregate network representation. Here we address this issue with the help of real data. We analyze the structural properties of an intrinsically multilayered real network, the European Air Transportation Multiplex Network in which each commercial airline defines a network layer. We examine how several structural measures evolve as layers are progressively merged together. In particular, we discuss how the topology of each layer affects the emergence of structural properties in the aggregate network.

  12. Weighted multiplex network of air transportation

    Science.gov (United States)

    Varga, Imre

    2016-06-01

    In several real networks large heterogeneity of links is present either in intensity or in the nature of relationships. Therefore, recent studies in network science indicate that more detailed topological information are available if weighted or multi-layer aspect is applied. In the age of globalization air transportation is a representative example of huge complex infrastructure systems, which has been analyzed from different points of view. In this paper a novel approach is applied to study the airport network as a weighted multiplex taking into account the fact that the rules and fashion of domestic and international flights differ. Restricting study to only topological features and their correlations in the system (disregarding traffic) one can see reasons why simple network approximation is not adequate.

  13. Space Division Multiplexing in Optical Fibres

    CERN Document Server

    Richardson, D J; Nelson, L E

    2013-01-01

    Optical communications technology has made enormous and steady progress for several decades, providing the key resource in our increasingly information-driven society and economy. Much of this progress has been in finding innovative ways to increase the data carrying capacity of a single optical fibre. In this search, researchers have explored (and close to maximally exploited) every available degree of freedom, and even commercial systems now utilize multiplexing in time, wavelength, polarization, and phase to speed more information through the fibre infrastructure. Conspicuously, one potentially enormous source of improvement has however been left untapped in these systems: fibres can easily support hundreds of spatial modes, but today's commercial systems (single-mode or multi-mode) make no attempt to use these as parallel channels for independent signals.

  14. Multiplexing of discrete chaotic signals in presence of noise

    Science.gov (United States)

    Nagaraj, Nithin; Vaidya, Prabhakar G.

    2009-09-01

    Multiplexing of discrete chaotic signals in presence of noise is investigated. The existing methods are based on chaotic synchronization, which is susceptible to noise, precision limitations, and requires more iterates. Furthermore, most of these methods fail for multiplexing more than two discrete chaotic signals. We propose novel methods to multiplex multiple discrete chaotic signals based on the principle of symbolic sequence invariance in presence of noise and finite precision implementation of finding the initial condition of an arbitrarily long symbolic sequence of a chaotic map. Our methods work for single precision and as less as 35 iterates. For two signals, our method is robust up to 50% noise level.

  15. Dynamic x-y crosstalk / aliasing errors of multiplexing BPMs

    CERN Document Server

    Straumann, T

    2003-01-01

    Multiplexing Beam Position Monitors (BPM) are widely used for their simplicity and inherent drift cancellation property. These systems successively feed the signals of (typically four RF) pickups through one single detector channel. The beam position is calculated from the demultiplexed (base band) signal. However, as shown by this contribution, transverse beam motion results in positional aliasing errors due to the finite multiplexing frequency. Fast horizontal motion, for example, can alias into an apparent, slow vertical position change. A thorough analysis is presented and the impact of essential parameters such as the multiplexing rate and the scanning pattern/sequence of classical 4-button pickups is discussed.

  16. Diversity-Multiplexing Tradeoff in the Low-SNR Regime

    CERN Document Server

    Loyka, Sergey

    2011-01-01

    An extension of the popular diversity-multiplexing tradeoff framework to the low-SNR (or wideband) regime is proposed. The concept of diversity gain is shown to be redundant in this regime since the outage probability is SNR-independent and depends on the multiplexing gain and the channel power gain statistics only. The outage probability under the DMT framework is obtained in an explicit, closed form for a broad class of channels. The low and high-SNR regime boundaries are explicitly determined for the scalar Rayleigh-fading channel, indicating a significant limitation of the SNR-asymptotic DMT when the multiplexing gain is small.

  17. Multiplexing schemes for an achromatic programmable diffractive lens

    Energy Technology Data Exchange (ETDEWEB)

    Millan, M S; Perez-Cabre, E; Oton, J [Technical University of Catalonia, Dep. Optics and Optometry, Terrassa-Barcelona, 08222 (Spain)], E-mail: millan@oo.upc.edu

    2008-11-01

    A multiplexed programmable diffractive lens, displayed on a pixelated liquid crystal device under broadband illumination, is proposed to compensate for the severe chromatic aberration that affects diffractive elements. The proposed lens is based on multiplexing a set of sublenses with a common focal length for different wavelengths. We consider different types of integration of the optical information (spatial only, temporal only and hybrid spatial-temporal) combined with a proper selection of the spectral bandwidth. The properties and limits of the achromatic programmable multiplexed lens are described. Experimental results are presented and discussed.

  18. Control of Angular Intervals for Angle-Multiplexed Holographic Memory

    Science.gov (United States)

    Kinoshita, Nobuhiro; Muroi, Tetsuhiko; Ishii, Norihiko; Kamijo, Koji; Shimidzu, Naoki

    2009-03-01

    In angle-multiplexed holographic memory, the full width at half maximum of the Bragg selectivity curves is dependent on the angle formed between the medium and incident laser beams. This indicates the possibility of high density and high multiplexing number by varying the angular intervals between adjacent holograms. We propose an angular interval scheduling for closely stacking holograms into medium even when the angle range is limited. We obtained bit error rates of the order of 10-4 under the following conditions: medium thickness of 1 mm, laser beam wavelength of 532 nm, and angular multiplexing number of 300.

  19. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    OpenAIRE

    Atsushi Nakao; Tomohiro Takeda; Yoshiya Hisaeda; Atsushi Hirota; Syusuke Amagata; Yuko Sakurai; Tadashi Kawakami

    2013-01-01

    Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceri...

  20. Congenitally Deafblind Children and Cochlear Implants

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2008-01-01

    There has been much research conducted demonstrating the positive benefits of cochlear implantation (CI) in children who are deaf. Research on cochlear implantation in children who are both deaf and blind, however, is lacking. The purpose of this article is to present a study of 5 congenitally...

  1. Congenital orbital sudoriferous cyst: radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Haider, Ehsaan; Gill, Dan [McGill University, Department of Radiology, Montreal (Canada); Saigal, Gaurav [University of Miami, Department of Radiology, Jackson Memorial Hospital, Miami, FL (United States); Brown, Erik [McGill University, Montreal (Canada); Daniel, Sam [McGill University, Department of Otolarnygology, Montreal Children' s Hospital, Montreal (Canada)

    2005-11-01

    We report an extremely unusual case of a 4-month-old boy who presented with a sudoriferous gland cyst of the orbit. Congenital sudoriferous cyst is extremely rare in both the adult and pediatric populations. The CT and MRI findings are presented and the pertinent literature reviewed. (orig.)

  2. Surgical treatment of congenital biliary duct cyst

    Directory of Open Access Journals (Sweden)

    Wang De-chun

    2012-03-01

    Full Text Available Abstract Background It is acknowledged that total cyst excision is a safe and ideal surgical treatment for congenital biliary duct cyst, compared to simple internal drainage. The aim of this study was to determine the optimal operation occasion and the effect of laparoscopy on congenital biliary duct cyst based upon total cyst excision. Methods From January 2002 to January 2011, 217 patients were admitted to Southwest Hospital for congenital biliary duct cyst. To determine the optimal surgery occasion, we divided these subjects into three groups, the infant group (age ≤ 3 years, the immaturity group (3 18 years, and then evaluated the feasibility, risk and long-term outcome after surgery in the three groups. To analyze the effect of laparoscopic technique on congenital biliary duct cyst, we divided the patients into the laparoscopy and the open surgery groups. Results Among the three groups, the morbidity from cholangiolithiasis before surgical treatment had obvious discrepancy (p 0.05. Similarly, no significant discrepancy was observed in the morbidity from postoperative complications or long-term postoperative complications (p > 0.05 between the laparoscopic and the open surgery groups. Conclusions We conclude that total cyst excision should be performed as early as possible. The optimal treatment occasion is the infant period, and laparoscopic resection may be a new safe and feasible minimally invasive surgery for this disease.

  3. Gender differences in adult congenital heart disease

    NARCIS (Netherlands)

    P. Engelfriet; B.J.M. Mulder

    2009-01-01

    Objective. To assess gender differences in morbidity, mortality and patient management among adults born with a heart defect. Methods and results. The database of the European Heart Survey on adult congenital heart disease was explored. This contains data on 4110 patients with one of eight congenita

  4. Pregnancy in women with congenital heart disease

    NARCIS (Netherlands)

    Greutmann, Matthias; Pieper, Petronella G.

    2015-01-01

    Congenital heart defects are the most common birth defects. Major advances in open-heart surgery have led to rapidly evolving cohorts of adult survivors and the majority of affected women now survive to childbearing age. The risk of cardiovascular complications during pregnancy and peripartum depend

  5. Molecular genetics of Leber congenital amaurosis.

    NARCIS (Netherlands)

    Cremers, F.P.M.; Hurk, J.A.J.M. van den; Hollander, A.I. den

    2002-01-01

    Leber congenital amaurosis (LCA) is the most common inherited cause of blindness in childhood and is characterised by a severe retinal dystrophy before the age of one year. Six genes have been identified that together account for approximately half of all LCA patients. These genes are expressed pref

  6. Amblyopia Associated with Congenital Facial Nerve Paralysis.

    Science.gov (United States)

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

    2016-01-01

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

  7. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who have...

  8. Anticoagulation in adults with congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Nørager, B;

    2015-01-01

    Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events. It is diff......Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable...

  9. Dermatoglyphic’s in Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Singh Brijendra

    2016-03-01

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

  10. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude;

    2014-01-01

    BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relatio...

  11. [Congenital toxoplasmosis: severe ocular and neurological complications

    NARCIS (Netherlands)

    Hoekstra, F.; Buzing, C.; Sporken, J.M.J.; Erasmus, C.E.; Flier, M. van der; Semmekrot, B.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

  12. Intellectual outcome in patients with congenital hypothyroidism

    OpenAIRE

    T A Klimenko; O B Bezlepkina; O A Chikulaeva

    2010-01-01

    Congenital hypothyroidism – thyroid disease, which occurs approximately 1: 3000-4000 newborns. Early onset of substitution levothyroxine therapy prevents the development of mental retardation. Neonatal screening of сongenital hypothyroidism in Russian Federation was started in 1994. This review presents the data of Russian and foreign researchers about the intellectual outcome of children and adolescents with сongenital hypothyroidism.

  13. Isolated and syndromic forms of congenital anosmia

    DEFF Research Database (Denmark)

    Karstensen, H G; Tommerup, N

    2012-01-01

    Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...

  14. Genetics of congenital hypogonadotropic hypogonadism in Denmark

    DEFF Research Database (Denmark)

    Tommiska, Johanna; Känsäkoski, Johanna; Christiansen, Peter;

    2014-01-01

    Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete/absent puberty caused by deficiency or defective action of gonadotropin-releasing hormone (GnRH). The phenotypic features of patients with CHH vary from genital hypoplasia and absent puberty to reversal ...

  15. Puberty and fertility in congenital adrenal hyperplasia.

    NARCIS (Netherlands)

    Otten, B.J.; Stikkelbroeck, M.M.L.; Claahsen-van der Grinten, H.L.; Hermus, A.R.M.M.

    2005-01-01

    Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. The symptoms and signs of CAH depend on the degree of enzyme deficiency; severe salt-wasting (SW) form, less severe simple virilizing (SV) form and mild nonclassic (NC) form. In this paper, puberty and fertility in CAH

  16. Congenital leopard vitiligo associated with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Bhargava Puneet

    1995-01-01

    Full Text Available A 31-year old Muslim male presented with congenital leopard vitiligo associated with multiple sclerosis. Five other family members had similar cutaneous lesions since birth. The disease appeared to be transmitted by autosomal dominant pattern with variable penetrance.

  17. Seasonality of Congenital Anomalies in Europe

    NARCIS (Netherlands)

    Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

    2014-01-01

    BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

  18. Congenital myasthenic syndrome of Brahman cattle

    NARCIS (Netherlands)

    Thompson, P.N.

    2006-01-01

    The postsynaptic congenital myasthenic syndrome that is the subject of this thesis is caused by a deficiency of nAChR at the neuromuscular junction, resulting from homozygosity for a null mutation in the ε-subunit gene (CHRNE 470del20). To date, this represents the only naturally occurring CMS in an

  19. Congenital cutaneous histiocytosis in a piglet.

    Science.gov (United States)

    Hélie, P; Kiupel, M; Drolet, R

    2014-07-01

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

  20. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  1. On-chip two-mode division multiplexing using tapered directional coupler-based mode multiplexer and demultiplexer

    DEFF Research Database (Denmark)

    Ding, Yunhong; Xu, Jing; Da Ros, Francesco;

    2013-01-01

    Abstract: We demonstrate a novel on-chip two-mode division multiplexing circuit using a tapered directional coupler-based TE0&TE1 mode multiplexer and demultiplexer on the silicon-on-insulator platform. A low insertion loss (0.3 dB), low mode crosstalk (...), and large fabrication tolerance (20 nm) are measured. An on-chip mode multiplexing experiment is carried out on the fabricated circuit with non return-to-zero (NRZ) on-off keying (OOK) signals at 40 Gbit/s. The experimental results show clear eye diagrams and moderate power penalty for both TE0 and TE1...... modes....

  2. Sonographic evaluation of children with congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Anelise de Almeida Sedassari

    2015-08-01

    Full Text Available AbstractObjective:To establish benchmarks and study some sonographic characteristics of the thyroid gland in a group of euthyroid children aged up to 5 years as compared with age-matched children with congenital hypothyroidism.Materials and Methods:Thirty-six children (17 female and 19 male aged between 2 months and 5 years were divided into two groups – 23 euthyroid children and 13 children with congenital hypothyroidism – and were called to undergo ultrasonography.Results:In the group of euthyroid children (n = 23, mean total volume of the thyroid gland was 1.12 mL (minimum, 0.39 mL; maximum, 2.72 mL; a homogeneous gland was found in 17 children (73.91% and 6 children (26.08% had a heterogeneous gland. In the group of children with congenital hypothyroidism (n = 13, mean total volume of the thyroid gland was 2.73 mL (minimum, 0.20 mL; maximum, 11.00 mL. As regards thyroid location, 3 patients (23.07% had ectopic thyroid, and 10 (69.23% had topic thyroid, and out of the latter, 5 had a homogeneous gland (50% and 5, a heterogeneous gland (50%. In the group with congenital hypothyroidism, 6 (46.15% children had etiological diagnosis of dyshormoniogenesis, 3 (23.07%, of ectopic thyroid, and 4 (30.76%, of thyroid hypoplasia.Conclusion:Thyroid ultrasonography is a noninvasive imaging method, widely available, easy to perform and for these reasons could, and should, be performed at any time, including at birth, with no preparation or treatment discontinuation, to aid in the early etiological definition of congenital hypothyroidism.

  3. Interferometric crosstalk suppression using polarization multiplexing technique and an SOA

    OpenAIRE

    LIU, FENGHAI; Xueyan, Zheng; Pedersen, Rune Johan Skullerud; Jeppesen, Palle

    2000-01-01

    Interferometric crosstalk can be greatly suppressed at 10Gb/s and 20Gb/s by using a gain saturated SOA and a polarization multiplexing technique that eliminates impairments like waveform and extinction ratio degradation from the SOA.

  4. Orthogonal Frequency-Division Multiplexed Quantum Key Distribution

    Science.gov (United States)

    Bahrani, Sima; Razavi, Mohsen; Salehi, Jawad A.

    2015-12-01

    We propose orthogonal frequency division multiplexing (OFDM), as a spectrally efficient multiplexing technique, for quantum key distribution (QKD) at the core of trustednode quantum networks. Two main schemes are proposed and analyzed in detail, considering system imperfections, specifically, time misalignment issues. It turns out that while multiple service providers can share the network infrastructure using the proposed multiplexing techniques, no gain in the total secret key generation rate is obtained if one uses conventional all-optical passive OFDM decoders. To achieve a linear increase in the key rate with the number of channels, an alternative active setup for OFDM decoding is proposed, which employs an optical switch in addition to conventional passive circuits. We show that by using our proposed decoder the bandwidth utilization is considerably improved as compared to conventional wavelength division multiplexing techniques.

  5. Multiplex networks with heterogeneous activities of the nodes

    CERN Document Server

    Cellai, Davide

    2015-01-01

    In multiplex networks with a large number of layers, the nodes can have different activities, indicating the total number of layers in which the nodes are present. Here we model multiplex networks with heterogeneous activity of the nodes and we study their robustness properties. We introduce a percolation model where nodes need to belong to the giant component only on the layers where they are active (i.e. their degree on that layer is larger than zero). We show that when there are enough nodes active only in one layer, the multiplex becomes more resilient and the transition becomes continuous. We find that multiplex networks with a power-law distribution of node activities are more fragile if the distribution of activity is broader. We also show that while positive correlations between node activity and degree can enhance the robustness of the system, the phase transition may become discontinuous, making the system highly unpredictable.

  6. Methods for recovering multiplex computer-synthesized fourier microholograms

    International Nuclear Information System (INIS)

    A new type of the holographic memory based on the computer synthesis of Fourier holograms of data pages has been considered. Methods for recovering multiplexed one-dimensional structures have been proposed

  7. High Channel Count, Low Cost, Multiplexed FBG Sensor Systems

    Institute of Scientific and Technical Information of China (English)

    J.; J.; Pan; FengQing; Zhou; Kejian; Guan; Joy; Jiang; Liang; Dong; Albert; Li; Xiangdong; Qiu; Jonathan; Zhang

    2003-01-01

    With rich products development experience in WDM telecommunication networks, we introduce a few of high channel count, multiplexed FBG fiber optic sensor systems featured in reliable high performance and low cost.

  8. Multiplexed Dosing Assays by Digitally Definable Hydrogel Volumes

    DEFF Research Database (Denmark)

    Faralli, Adele; Melander, Fredrik; Larsen, Esben Kjær Unmack;

    2016-01-01

    Stable and low-cost multiplexed drug sensitivity assays using small volumes of cells or tissue are in demand for personalized medicine, including patientspecific combination chemotherapy. Spatially defined projected light photopolymerization of hydrogels with embedded active compounds is introduced...

  9. On-chip noninterference angular momentum multiplexing of broadband light.

    Science.gov (United States)

    Ren, Haoran; Li, Xiangping; Zhang, Qiming; Gu, Min

    2016-05-13

    Angular momentum division has emerged as a physically orthogonal multiplexing method in high-capacity optical information technologies. However, the typical bulky elements used for information retrieval from the overall diffracted field, based on the interference method, impose a fundamental limit toward realizing on-chip multiplexing. We demonstrate noninterference angular momentum multiplexing by using a mode-sorting nanoring aperture with a chip-scale footprint as small as 4.2 micrometers by 4.2 micrometers, where nanoring slits exhibit a distinctive outcoupling efficiency on tightly confined plasmonic modes. The nonresonant mode-sorting sensitivity and scalability of our approach enable on-chip parallel multiplexing over a bandwidth of 150 nanometers in the visible wavelength range. The results offer the possibility of ultrahigh-capacity and miniaturized nanophotonic devices harnessing angular momentum division.

  10. Strategical incoherence regulates cooperation in social dilemmas on multiplex networks

    CERN Document Server

    Matamalas, Joan T; Gómez, Sergio; Arenas, Alex

    2015-01-01

    Cooperation is a very common, yet not fully-understood phenomenon in natural and human systems. The introduction of a network within the population is known to affect the outcome of cooperative dynamics, allowing for the survival of cooperation in adverse scenarios. Recently, the introduction of multiplex networks has yet again modified the expectations for the outcome of the Prisoner's Dilemma game, compared to the monoplex case. However, much remains unstudied regarding other social dilemmas on multiplex, as well as the unexplored microscopic underpinnings of it. In this paper, we systematically study the evolution of cooperation in all four games in the $T-S$ plane on multiplex. More importantly, we find some remarkable and previously unknown features in the microscopic organization of the strategies, that are responsible for the important differences between cooperative dynamics in monoplex and multiplex. Specifically, we find that in the stationary state, there are individuals that play the same strategy...

  11. Time/Wavelength Fiber Bragg Grating Multiplexing Sensor Array

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    A novel time/wavelength-multiplexed fiber Bragg grating sensor array is presented. This type of sensor array has the advantages of more points for multi-point measurement, simple structure and low cost.

  12. Contact-based social contagion in multiplex networks

    Science.gov (United States)

    Cozzo, Emanuele; Baños, Raquel A.; Meloni, Sandro; Moreno, Yamir

    2013-11-01

    We develop a theoretical framework for the study of epidemiclike social contagion in large scale social systems. We consider the most general setting in which different communication platforms or categories form multiplex networks. Specifically, we propose a contact-based information spreading model, and show that the critical point of the multiplex system associated with the active phase is determined by the layer whose contact probability matrix has the largest eigenvalue. The framework is applied to a number of different situations, including a real multiplex system. Finally, we also show that when the system through which information is disseminating is inherently multiplex, working with the graph that results from the aggregation of the different layers is inaccurate.

  13. Contact-based Social Contagion in Multiplex Networks

    CERN Document Server

    Cozzo, E; Meloni, S; Moreno, Y

    2013-01-01

    We develop a theoretical framework for the study of epidemic-like social contagion in large scale social systems. We consider the most general setting in which different communication platforms or categories form multiplex networks. Specifically, we propose a contact-based information spreading model, and show that the critical point of the multiplex system associated to the active phase is determined by the layer whose contact probability matrix has the largest eigenvalue. The framework is applied to a number of different situations, including a real multiplex system. Finally, we also show that when the system through which information is disseminating is inherently multiplex, working with the graph that results from the aggregation of the different layers is flawed.

  14. Efficient Design of Reversible Multiplexers with Low Quantum Cost

    Directory of Open Access Journals (Sweden)

    Ashima Malhotra

    2014-07-01

    Full Text Available Multiplexing is the generic term used to designate the operation of sending one or more analogue or digital signals over a common transmission line at dissimilar times or speeds and as such, the scheme we use to do just that is called a Multiplexer. In digital electronics, multiplexers are similarly known as data selectors as they can “select” each input line, are made from individual Analogue Switches encased in a single IC package as conflicting to the “mechanical” type selectors such as standard conservative switches and relays. In today era, reversibility has become essential part of digital world to make digital circuits more efficient. In this paper, we have proposed a new method to reduce quantum cost and power for various multiplexers. The results are simulated in Xilinx by using VHDL language.

  15. Shift-Peristrophic Multiplexing for High Density Holographic Data Storage

    Directory of Open Access Journals (Sweden)

    Zenta Ushiyama

    2014-03-01

    Full Text Available Holographic data storage is a promising technology that provides very large data storage capacity, and the multiplexing method plays a significant role in increasing this capacity. Various multiplexing methods have been previously researched. In the present study, we propose a shift-peristrophic multiplexing technique that uses spherical reference waves, and experimentally verify that this method efficiently increases the data capacity. In the proposed method, a series of holograms is recorded with shift multiplexing, in which the recording material is rotated with its axis perpendicular to the material’s surface. By iterating this procedure, multiplicity is shown to improve. This method achieves more than 1 Tbits/inch2 data density recording. Furthermore, a capacity increase of several TB per disk is expected by maximizing the recording medium performance.

  16. Digital image compression for a 2f multiplexing optical setup

    Science.gov (United States)

    Vargas, J.; Amaya, D.; Rueda, E.

    2016-07-01

    In this work a virtual 2f multiplexing system was implemented in combination with digital image compression techniques and redundant information elimination. Depending on the image type to be multiplexed, a memory-usage saving of as much as 99% was obtained. The feasibility of the system was tested using three types of images, binary characters, QR codes, and grey level images. A multiplexing step was implemented digitally, while a demultiplexing step was implemented in a virtual 2f optical setup following real experimental parameters. To avoid cross-talk noise, each image was codified with a specially designed phase diffraction carrier that would allow the separation and relocation of the multiplexed images on the observation plane by simple light propagation. A description of the system is presented together with simulations that corroborate the method. The present work may allow future experimental implementations that will make use of all the parallel processing capabilities of optical systems.

  17. Nanoscale Test Strips for Multiplexed Blood Analysis Project

    Data.gov (United States)

    National Aeronautics and Space Administration — The goal of our nanoscale test strips, or nanostrips, is to provide rapid, low-cost, powerful multiplexed analyses in a diminutive form so that whole body health...

  18. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2016-07-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  19. Interferometric crosstalk suppression using polarization multiplexing technique and an SOA

    DEFF Research Database (Denmark)

    Liu, Fenghai; Xueyan, Zheng; Pedersen, Rune Johan Skullerud;

    2000-01-01

    Interferometric crosstalk can be greatly suppressed at 10Gb/s and 20Gb/s by using a gain saturated SOA and a polarization multiplexing technique that eliminates impairments like waveform and extinction ratio degradation from the SOA.......Interferometric crosstalk can be greatly suppressed at 10Gb/s and 20Gb/s by using a gain saturated SOA and a polarization multiplexing technique that eliminates impairments like waveform and extinction ratio degradation from the SOA....

  20. Infrared frequency combs and supercontinua for multiplex high sensitivity spectroscopy

    CERN Document Server

    Mandon, Julien; Sorokina, Irina T; Guelachvili, Guy; Picqué, Nathalie

    2007-01-01

    An infrared high-brightness light source based on supercontinuum generation through a SF6 photonic crystal fiber seeded by a Cr^4+:YAG femtosecond oscillator is developed for high resolution multiplex spectroscopy in the 1.5 $\\mu$m region. Moreover, a multiplex high resolution approach based on a Cr^4+:YAG frequency comb enables to probe large spectral domains, with simultaneous sensitive measurement of the absorption and the dispersion associated with all individual spectral features.

  1. Multiplex allele-specific target amplification based on PCR suppression

    OpenAIRE

    Broude, Natalia E.; Zhang, Lingang; Woodward, Karen; Englert, David; Cantor, Charles R.

    2001-01-01

    We have developed a strategy for multiplex PCR based on PCR suppression. PCR suppression allows DNA target amplification with only one sequence-specific primer per target and a second primer that is common for all targets. Therefore, an n-plex PCR would require only n + 1 primers. We have demonstrated uniform, efficient amplification of targeted sequences in 14-plex PCR. The high specificity of suppression PCR also provides multiplexed amplification with allele specifi...

  2. Signal processing for on-chip space division multiplexing

    DEFF Research Database (Denmark)

    Peucheret, Christophe; Ding, Yunhong; Xu, Jing;

    2015-01-01

    Our recent results on the demonstration of on-chip mode-division multiplexing are reviewed, with special emphasis on nonlinear all-optical signal processing. Mode-selective parametric processes are demonstrated in a silicon-on-insulator waveguide.......Our recent results on the demonstration of on-chip mode-division multiplexing are reviewed, with special emphasis on nonlinear all-optical signal processing. Mode-selective parametric processes are demonstrated in a silicon-on-insulator waveguide....

  3. Diversity Multiplexing Tradeoff of Asynchronous Cooperative Relay Networks

    CERN Document Server

    Krishnakumar, R N; Kumar, P Vijay

    2008-01-01

    The assumption of nodes in a cooperative communication relay network operating in synchronous fashion is often unrealistic. In the present paper, we consider two different models of asynchronous operation in cooperative-diversity networks experiencing slow fading and examine the corresponding diversity-multiplexing tradeoffs (DMT). For both models, we propose protocols and distributed space-time codes that asymptotically achieve the transmit diversity bound for all multiplexing gains and for any number of relays.

  4. Optical Path Length Multiplexing of Optical Fiber Sensors

    OpenAIRE

    Wavering, Thomas A. II

    1998-01-01

    Optical fiber sensor multiplexing reduces cost per sensor by designing a system that minimizes the expensive system components (sources, spectrometers, etc.) needed for a set number of sensors. The market for multiplexed optical sensors is growing as fiber-optic sensors are finding application in automated factories, mines, offshore platforms, air, sea, land, and space vehicles, energy distribution systems, medical patient surveillance systems, etc. Optical path length mul...

  5. Miniaturized high-temperature superconducting multiplexer with cascaded quadruplet structure

    Science.gov (United States)

    Xu, Zhang; Jingping, Liu; Shaolin, Yan; Lan, Fang; Bo, Zhang; Xinjie, Zhao

    2015-06-01

    In this paper, compact high temperature superconducting (HTS) multiplexers are presented for satellite communication applications. The first multiplexer consists of an input coupling node and three high-order bandpass filters, which is named triplexer. The node is realized by a loop microstrip line instead of conventional T-junction to eliminate the redundant susceptance due to combination of three filters. There are two eight-pole band-pass filters and one ten-pole band-pass filter with cascaded quadruplet structure for realizing high isolation. Moreover, the triplexer is extended to a multiplexer with six channels so as to verify the expansibility of the suggested approach. The triplexer is fabricated using double-sided YBa2Cu3O7 thin films on a 38 × 25 mm2 LaAlO3 substrate. The experimental results, when compared with those ones from the T-junction multiplexer, show that our multiplexer has lower insertion loss, smaller sizes and higher isolation between any two channels. Also, good agreement has been achieved between simulations and measurements, which illustrate the effectiveness of our methods for the design of high performance HTS multiplexers.

  6. Clostridium perfringens isolate typing by multiplex PCR

    Directory of Open Access Journals (Sweden)

    MR Ahsani

    2010-01-01

    Full Text Available Clostridium perfringens is an important pathogen that provokes numerous different diseases. This bacterium is classified into five different types, each of which capable of causing a different disease. There are various methods for the bacterial identification, many are labor-intensive, time-consuming, expensive and also present low sensitivity and specificity. The aim of this research was to identify the different types of C. perfringens using PCR molecular method. In this study, 130 sheep-dung samples were randomly collected from areas around the city of Kerman, southeastern Iran. After processing and culturing of samples, the produced colonies were morphologically studied, gram stain test was also carried out and the genera of these bacteria were identified through biochemical tests. DNA extracted from isolated bacteria for genotyping was tested by multiplex PCR with specific primers. Based on length of synthesized fragments by PCR, toxin types and bacterial strains were detected. C. perfringens isolated types were divided as follows: 17.39% type A, 21.74% type B, 34.78% type C and 26.09% type D. It should be emphasized that, up to the present moment, C. perfringens type A has not been reported in Iran.

  7. Controllability of multiplex, multi-timescale networks

    CERN Document Server

    Pósfai, Márton; Cornelius, Sean P; Barabási, Albert-László; D'Souza, Raissa M

    2016-01-01

    The paradigm of layered networks is used to describe many real-world systems -- from biological networks, to social organizations and transportation systems. Recently there has been much progress in understanding the general properties of multilayer networks, our understanding of how to control such systems remains limited. One aspect that makes this endeavor challenging is that each layer can operate at a different timescale, thus we cannot directly apply standard ideas from structural control theory of individual networks. Here we address the problem of controlling multilayer and multi-timescale networks focusing on two-layer multiplex networks with one-to-one interlayer coupling. We investigate the case when the control signal is applied to the nodes of one layer. We develop a theory based on disjoint path covers to determine the minimum number of inputs ($N_\\T i$) necessary for full control. We show that if both layers operate on the same timescale then the network structure of both layers equally affect ...

  8. Multiplexed coding in the human basal ganglia

    Science.gov (United States)

    Andres, D. S.; Cerquetti, D.; Merello, M.

    2016-04-01

    A classic controversy in neuroscience is whether information carried by spike trains is encoded by a time averaged measure (e.g. a rate code), or by complex time patterns (i.e. a time code). Here we apply a tool to quantitatively analyze the neural code. We make use of an algorithm based on the calculation of the temporal structure function, which permits to distinguish what scales of a signal are dominated by a complex temporal organization or a randomly generated process. In terms of the neural code, this kind of analysis makes it possible to detect temporal scales at which a time patterns coding scheme or alternatively a rate code are present. Additionally, finding the temporal scale at which the correlation between interspike intervals fades, the length of the basic information unit of the code can be established, and hence the word length of the code can be found. We apply this algorithm to neuronal recordings obtained from the Globus Pallidus pars interna from a human patient with Parkinson’s disease, and show that a time pattern coding and a rate coding scheme co-exist at different temporal scales, offering a new example of multiplexed neuronal coding.

  9. Nanoscale Test Strips for Multiplexed Blood Analysis

    Science.gov (United States)

    Chan, Eugene

    2015-01-01

    A critical component of the DNA Medicine Institute's Reusable Handheld Electrolyte and Lab Technology for Humans (rHEALTH) sensor are nanoscale test strips, or nanostrips, that enable multiplexed blood analysis. Nanostrips are conceptually similar to the standard urinalysis test strip, but the strips are shrunk down a billionfold to the microscale. Each nanostrip can have several sensor pads that fluoresce in response to different targets in a sample. The strips carry identification tags that permit differentiation of a specific panel from hundreds of other nanostrip panels during a single measurement session. In Phase I of the project, the company fabricated, tested, and demonstrated functional parathyroid hormone and vitamin D nanostrips for bone metabolism, and thrombin aptamer and immunoglobulin G antibody nanostrips. In Phase II, numerous nanostrips were developed to address key space flight-based medical needs: assessment of bone metabolism, immune response, cardiac status, liver metabolism, and lipid profiles. This unique approach holds genuine promise for space-based portable biodiagnostics and for point-of-care (POC) health monitoring and diagnostics here on Earth.

  10. Congenital lobar emphysema: Pitfalls in diagnosis

    Directory of Open Access Journals (Sweden)

    Abhishek Chinya

    2016-01-01

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

  11. Congenital lobar emphysema: Pitfalls in diagnosis.

    Science.gov (United States)

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

    2016-01-01

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

  12. CONGENITAL DYSERYTHROPOIETIC ANEMIA: AN ETIOPATHOLOGICAL STUDY

    Directory of Open Access Journals (Sweden)

    Vinod Kumar

    2015-12-01

    Full Text Available AIMS To evaluate the role of blood and bone marrow findings in the diagnosis of congenital dyserythropoietic anaemias type I and type II. SETTINGS AND DESIGN Dyserythropoietic anaemia is suspected when there is a suboptimal reticulocyte response for the degree of anaemia. Congenital dyserythropoetic anaemias are a group of rare hereditary disorders of hematopoiesis. It is believed that CDA is often under diagnosed. Knowledge of CDA workup in a patient of haemolytic anaemia is often rewarding. MATERIALS AND METHODS All the cases diagnosed as CDA at a tertiary paediatric centre were reviewed with respect to clinical and serological data, peripheral smear and bone marrow study findings. The haematological changes in CDA were analyzed with respect to the diagnosis. RESULTS AND CONCLUSION The light microscopic findings of the peripheral smear and bone marrow aspirate were found to be highly specific for the diagnosis of CDA. Significant differences were also noted between type I and type II CDA.

  13. Congenital Rickets: Report of Four Cases

    Directory of Open Access Journals (Sweden)

    Rahim Vakili

    2014-01-01

    Full Text Available Introduction: Vitamin D deficiency and rickets continue to be health problems in developing countries and most of the infants with congenital rickets may present with hypocalcemic seizure.   Case Report In this article, the report on four infants who presented with hypocalcemic seizures but subsequently were found to have congenital rickets is presented. All of them had hypocalcaemia and low level of serum 25- hydroxy vitamin D. Their mothers had not received vitamin D supplementation during pregnancy and so evidence of vitamin D deficiency was presented.   Conclusion: Although current vitamin D supplementation guidelines for infants was effective in prevention of rickets in Iranian children,  it is necessary to evaluate women before pregnancy  to prevent this entity. Also infants without vitamin D supplementation therapy who present with seizures during the first 6 months of age should undergo biochemical and other investigations for rickets.

  14. Marital stability and congenital heart disease.

    Science.gov (United States)

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

    1982-06-01

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

  15. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

    Varela, María M Morales-Suárez; Aagaard-Nohr, Ellen; Llopis-González, Agustin;

    2009-01-01

    BACKGROUND: The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring. METHODS: The study population comprised 81 435 live singletons born to mothers enrolled in the Danish National Birth Cohort between...... 1996 and 2002. A total of 3352 cases of major congenital anomalies (EUROCAT criteria) were identified by linkage to the National Hospital Discharge Register. Malformations were recorded at birth or in the first year of life. Information about maternal and paternal socio-occupational status was...... collected prospectively using telephone interviews in the second trimester of pregnancy and was categorized as high, middle or low. Associations were measured as relative prevalence ratios using the highest socio-occupational status within the couple as the reference group. RESULTS: The prevalence of all...

  16. Congenital epulides: A rare case report

    Directory of Open Access Journals (Sweden)

    Saurabh Kumar

    2014-01-01

    Full Text Available Congenital epulis (CE or "Granular cell epulis" also previously termed as "Neumann′s tumor" is a benign growth arising from the mucosa of the gingiva, typically seen as a mass protruding from the infant′s mouth, often interfering with respiration and feeding. These tumors generally present as a single mass arising from the upper alveolus. We report a rare case of two congenital epulides arising from the maxillary and mandibular alveolus in a day old female infant, which was surgically excised, allowing for early initiation of breast feeding. The tumor cells stained negative for S100 protein hence differentiating from other granular cell tumors. The clinical presentation, differential diagnosis in regard to the various neonatal oral swellings and the management of CE has been discussed.

  17. Congenital lobar emphysema: Is surgery routinely necessary?

    Directory of Open Access Journals (Sweden)

    Bulut Ismet

    2010-01-01

    Full Text Available Congenital lobar emphysema (CLE is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery. There was no marked respiratory distress at birth, and little meconium stained liquor was seen on the skin. The initial diagnosis was meconium aspiration syndrome. After computed tomography of the thorax, CLE was diagnosed. The patient was observed throughout for a week and the CT of the thorax was repeated, which revealed that the emphysema had resolved. The nonoperative approach should be considered in asymptomatic patients with CLE.

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

    Science.gov (United States)

    Johnson, Julie; Anderson, Brenna

    2014-12-01

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

  19. Congenital Malalignment of the Great Toenail.

    Science.gov (United States)

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

    2015-01-01

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

  20. CONGENITAL PSEUDOARTHOSIS OF TIBIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Madhukar

    2014-10-01

    Full Text Available Congenital pseudoarthosis of tibia is a rare condition. The incidence ranges from 1:140000 to 1:250000. 50 % to 90 % of the cases show association with neurofibromatosis stigmata including skin and osseous lesions. It is usually associated with a dysplastic segment of bone, which undergoes fracture after a trivial trauma or spontaneously. This fracture then goes into non-healing leading to pseudoarthosis. It is a difficult condition to treat and may be associated with complications. Treatment is mainly surgical, aiming at fracture union and maintaining limb length. This is a case report of a 6 year old boy, who presented with progressive deformity of right leg. He was diagnosed with congenital pseudoarthosis and treated accordingly with multiple osteotomies, bone grafting, intramedullary nailing and stabilization with ilizarao external fixator followed by cast immobilization. On follow up deformity was corrected and union was achieved.

  1. Case report: Congenital short bowel syndrome

    OpenAIRE

    Palle Lalitha; Reddy Balaji

    2010-01-01

    Congenital short bowel syndrome (SBS) is a relatively rare condition as compared to acquired SBS. It is associated with significant mortality and morbidity. Infants usually present with failure to thrive, recurrent vomiting, and diarrhea. It is important to suspect and diagnose this condition promptly, as early initiation of parenteral nutrition or surgery, if necessary, may result in a favorable outcome. We discuss a case of an infant aged 26 days, who presented with failure to thrive, recur...

  2. Congenital malaria in a European country

    OpenAIRE

    Prior, Ana Rita; Prata, Filipa; Mouzinho, Ana; Marques, José Gonçalo

    2012-01-01

    A newborn of 26 days, born in Lisbon, Portugal, presented with fever, anaemia and thrombocytopaenia. She was admitted considering neonatal sepsis, but Plasmodium vivax was identified in the second peripheral blood smear performed. Parenteral quinine was started with good evolution. Despite clinicians’ unfamiliarity with congenital malaria in non-endemic areas, this diagnosis, although rare, should not be forgotten in the evaluation of newborns/infants born to women from endemic areas or with ...

  3. Perineal Ectopic Testis: A Rare Congenital Anomally

    Directory of Open Access Journals (Sweden)

    Tufan Cicek

    2013-02-01

    Full Text Available Perineal ectopic testis is a rare congenital anomally. The incidence of perineal ectopic testis is less than 1% in all undescended testis. Patient usually applied to urology with empty scrotum and testicular agenesia. The main treatment is surgical and hormonal therapy is not indicated in these patients. We report an eleven years old patient with right perineal ectopic testis that was underwent scrotal orchidopexy [Cukurova Med J 2013; 38(1.000: 138-141

  4. Maternal Risk Factors for Congenital Cerebral Palsy

    OpenAIRE

    Streja, Elani

    2012-01-01

    Congenital Cerebral Palsy (CP) is the most common physical disability in children. In spite of major advances in medical technology, the etiology of CP is still not well understood. There is growing evidence that brain damage leading to CP development occurs during pregnancy and that maternal phenotype contributes to this intrauterine environment. We hypothesized that maternal factors such as infections, smoking, comorbidities and genetics can increase the risk of CP in children. Additionally...

  5. Congenital pseudarthrosis of clavicle, differential diagnosis pathology

    International Nuclear Information System (INIS)

    The congenital pseudarthrosis of clavicle is a rare entity, frequently appearing without association to other pathologies and does not cause important limitations in the children. It can confuse with other traumatic pathologies like clavicle fracture. Most of the patients complain about the aesthetics and few times for pain. The treatment is generally surgical there is controversy about of carrying out surgery. We reported two clinical cases with pseudoarthrosis of the right clavicle that they received surgical treatment with satisfactory results.

  6. Acardiac anceps: a rare congenital anomaly

    Science.gov (United States)

    Nigam, Aruna; Agarwal, Rohini; Saxena, Pikee; Barla, Jaya

    2014-01-01

    Acardiac twin is a rare congenital anomaly and is exclusively associated with monochorionic twin pregnancies. The abnormalities occur due to abnormal communication between the two fetuses in the form of arterioarterial and venovenous communications, resulting in a grossly abnormal acardiac twin with reduction anomalies mainly of the upper body and gross oedema. Since no two acardiac twins are alike, this case report will add to the acardiac twin anomaly spectrum. PMID:24717594

  7. Acardiac anceps: a rare congenital anomaly

    OpenAIRE

    Nigam, Aruna; Agarwal, Rohini; Saxena, Pikee; Barla, Jaya

    2014-01-01

    Acardiac twin is a rare congenital anomaly and is exclusively associated with monochorionic twin pregnancies. The abnormalities occur due to abnormal communication between the two fetuses in the form of arterioarterial and venovenous communications, resulting in a grossly abnormal acardiac twin with reduction anomalies mainly of the upper body and gross oedema. Since no two acardiac twins are alike, this case report will add to the acardiac twin anomaly spectrum.

  8. Nutrition in neonatal congenital heart disease

    OpenAIRE

    Morgan CT; Shine AM; McMahon CJ

    2013-01-01

    Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmonary bypass...

  9. Nutrition in neonatal congenital heart disease

    OpenAIRE

    McMahon, Colin

    2013-01-01

    Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmona...

  10. Severe congenital malaria acquired in utero.

    Science.gov (United States)

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

    2010-04-01

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

  11. Congenital retinoschisis : successful collapse with photocoagulation.

    OpenAIRE

    Gopal L; Shanmugam M; Battu R; Shetty N

    2001-01-01

    We report a case of progressive congenital retinoschis is where the schisis cavity collapsed following argon laser photocoagulation. Despite reports to the contrary, we feel that in the absence of significant vitreous or inner layer traction, photocoagulation applied as light burns in the schisis cavity may be beneficial in collapsing the cavity. Whether or not this collapse of the schisis cavity reduces the risk of rhegmatogenous retinal detachment is unclear.

  12. Congenital retinoschisis : successful collapse with photocoagulation.

    Directory of Open Access Journals (Sweden)

    Gopal L

    2001-01-01

    Full Text Available We report a case of progressive congenital retinoschis is where the schisis cavity collapsed following argon laser photocoagulation. Despite reports to the contrary, we feel that in the absence of significant vitreous or inner layer traction, photocoagulation applied as light burns in the schisis cavity may be beneficial in collapsing the cavity. Whether or not this collapse of the schisis cavity reduces the risk of rhegmatogenous retinal detachment is unclear.

  13. Lymphocyte dysfunction in congenital hypoplastic anemia.

    OpenAIRE

    Finlay, J. L.; Shahidi, N T; Horowitz, S; Borcherding, W; Hong, R

    1982-01-01

    Congenital hypoplastic anemia (Diamond-Blackfan syndrome) is thought to involve the erythropoietic cell line alone. In this study, the evaluation of lymphocyte function in five patients with this syndrome revealed a number of abnormalities. Peripheral blood T lymphocyte percentages as assessed by monoclonal antibodies were decreased in three patients. T-helper/T-suppressor cell (OKT4:OKT8) ratios were almost unity in four of the five patients. We usually find a ratio of 2:1 in normal populati...

  14. Congenital lobar emphysema associated with polysplenia syndrome

    OpenAIRE

    2010-01-01

    Polysplenia, or left isomerism, is a rare heterotaxy syndrome characterized by bilateral bi-lobed lungs, bilateral pulmonary atria, a symmetrical midline liver, and multiple aberrant splenic nodules. We report a case of polysplenia associated with congenital lobar emphysema apart from other typical anomalies. Such an association has not been previously reported. The patient was a young male with progressive exertional breathlessness referred for high resolution CT of the lungs. CT, MRI and ec...

  15. Congenital leptin deficiency and thyroid function

    OpenAIRE

    Paz-Filho Gilberto; Delibasi Tuncay; Erol Halil K; Wong Ma-Li; Licinio Julio

    2009-01-01

    Abstract Thyroid function is closely related to leptin's secretion by the adipose tissue. In states of leptin-deficiency, the circadian rhythm of TSH is altered, leading to central hypothyroidism in animal models. In humans, central hypothyroidism has also been described in rare cases of congenital leptin deficiency. However, the thyroid phenotype in these cases is heterogeneous, with the occurrence of central hypothyroidism in a minority of cases. Here we describe thyroid function in four l...

  16. Delay in diagnosis of congenital anal stenosis

    OpenAIRE

    Weledji, Elroy P; Motaze Sinju

    2016-01-01

    Although a minor anorectal malformation the delay in diagnosis and treatment of anal stenosis may result in significant early or late complications. Early inspection of the perineum in the neonate to pick up and correct anorectal malformation improves long term outcome but this requires proper anal examination or it could be missed. We present and discuss a case of delayed diagnosis of congenital anal stenosis (a low anorectal anomaly) with an imminent colonic perforation. Severe anal stenosi...

  17. Congenital anorectal abnormalities in six dogs.

    Science.gov (United States)

    Prassinos, N N; Papazoglou, L G; Adamama-Moraitou, K K; Galatos, A D; Gouletsou, P; Rallis, T S

    2003-07-19

    Congenital anorectal abnormalities were diagnosed in three male and three female dogs. One dog had anal stenosis, three had a persistent anal membrane, and the other two had an imperforate anus associated with a rectovaginal fistula. Five of the dogs were treated surgically, and four of them which were followed up for periods ranging from one to five years continued to pass faeces normally. PMID:12892267

  18. Aphallia:A Rare Congenital Anomaly

    OpenAIRE

    Alpa Gupta; Alpa Gupta, Harendra Gupta*

    2008-01-01

    Aphallia or absence of penis is a very rare congenital anomaly. Clinical presentation is diagnostic, butimmediate and long term management poses great dilemma. The issue like gender reassignment needsparental counseling. Due to social reasons parents have difficulty in giving consent for the classicalmanagement of gender reassignment. However with better penile reconstruction techniques, now there ishope for such parents who want to bring up their child as a boy.We present such a rare case wi...

  19. Evaluation of neonates with congenital heart disease

    OpenAIRE

    Tokel, Kürşad; Saygılı, Arda; Mercan, Şükrü; Varan, Birgül; Gürakan, Berkan; Aşlamacı, Sait

    2001-01-01

    From April 1995 to June 1999 190 neonates with congenital heart disease underwent medical interventional and surgical treatment in our institution The symptoms physical findings and cardiac diagnoses of patients were retrospectively analysed in four age groups according to age at admission: before 3 days 3 14 days 14 28 days and 28 42 days The results of interventional catheterization medical and surgical treatment and complications were also investigated The mean age at admission was 19 2 ± ...

  20. Congenital melanocytic nevi: Catch them early!

    Directory of Open Access Journals (Sweden)

    Karthika Natarajan

    2013-01-01

    Full Text Available We report a 2-week-old neonate with a large congenital melanocytic nevus over face treated with surgical curettage followed by a combination of carbon dioxide laser and Q-switched neodymium-doped yttrium aluminum garnet lasers. The results were satisfactory with near complete resolution after 1 year of age. This case is reported to emphasize the timely management and the importance of curettage prior to development of rete ridges.

  1. Congenital disorders of glycosylation with neonatal presentation

    OpenAIRE

    Resende, Catarina; Carvalho, Carmen; Alegria, Artur; Oliveira, Dulce; Quelhas, Dulce; Bandeira, Anabela; Proença, Elisa

    2014-01-01

    Congenital disorders of glycosylation (CDG) are a group of hereditary diseases characterised by deficiency of enzymes involved in proteins glycosylation. We describe the clinical case of a neonate with CDG type 1a, nowadays designated phosphomannomutase 2 (PMM2)-CDG. Physical examination showed an abnormal facies, axial hypotonia, abnormal fat distribution, inverted nipples, non-palpable testicles and arachnodactyly. Progressive multiple system organ involvement and worsening of hypertrophic ...

  2. TREATMENT OF NEUROLOGICAL CONGENITAL HIP LUXATION

    OpenAIRE

    Iulian ICLEANU; Mariana CORDUN

    2015-01-01

    Congenital hip luxation is a disorder which evolves in time. Teratological hip dislocation is a distinct form of hip luxation, which usually appears with other disorders. These hips are dislocated before birth. In this thesis we will try to elaborate a recovery program, through physical exercises, which will help us realize our treatment objectives: diminishing articular stiffness, increasing articular mobility, increasing muscle strength, recalibration of agonist and antagonist balances and ...

  3. Reduced taste sensitivity in congenital blindness

    DEFF Research Database (Denmark)

    Gagnon, Lea; Kupers, Ron; Ptito, Maurice

    2013-01-01

    behavioral results showed that compared with the normal sighted, blind subjects have increased thresholds for taste detection and taste identification. This finding is at odds with the superior performance of congenitally blind subjects in several tactile, auditory and olfactory tasks. Our psychometric data......-related obstacles when shopping for food, cooking and eating out, all of which contribute to underexpose the gustatory system to a larger variety of taste stimuli....

  4. CONGENITAL MESOBLASTIC NEPHROMA: A CASE REPORT

    OpenAIRE

    Al-Turkistani, Hatim K.

    2008-01-01

    Congenital mesoblastic nephroma (CMN) is a rare renal tumor. It can be detected antenatally especially with judicious use of ultrasonography. A premature female neonate 28 weeks′ gestation, complicated by polyhydramnios, was born to a 28-year-old woman. An abdominal mass was detected antenatally. At the end of the first week of life, the newborn had hypertension that was controlled by hydralazine. Ultrasonography and CT scan showed a right-sided renal heterogeneous solid mass. Right nephr...

  5. Recurrent congenital heart block in neonatal lupus.

    Science.gov (United States)

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

    2007-07-01

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

  6. Integrated switch for simultaneous mode-division multiplexing (MDM) and wavelength-division multiplexing (WDM)

    CERN Document Server

    Stern, Brian; Chen, Christine P; Tzuang, Lawrence D; Cardenas, Jaime; Bergman, Keren; Lipson, Michal

    2015-01-01

    Leveraging the spatial modes of multimode waveguides using mode-division multiplexing (MDM) on an integrated photonic chip allows unprecedented scaling of bandwidth density for on-chip communication. Switching channels between waveguides is critical for future scalable optical networks, but its implementation in multimode waveguides must address how to simultaneously control modes with vastly different optical properties. Here we present a platform for switching signals between multimode waveguides based on individually processing the spatial mode channels using single-mode elements. Using this wavelength-division multiplexing (WDM) compatible platform, we demonstrate a 1x2 multimode switch for a silicon chip which routes four data channels with low (<-20 dB) crosstalk. We show bit-error rates below 10^-9 and power penalties below 1.4 dB on all channels while routing 10 Gbps data when each channel is input and routed separately. The switch exhibits an additional power penalty of less than 2.4 dB when all f...

  7. Intelligence Quotient (IQ in Congenital Strabismus

    Directory of Open Access Journals (Sweden)

    Abbas Bagheri

    2013-01-01

    Full Text Available Purpose: To evaluate intelligence quotient (IQ in patients with congenital strabismus. Methods: All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. Results: During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63 years were included. Educational status in most patients (80% was less than high-school. Most patients (80% lived in urban areas and 46 patients (42.2% had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127, performance IQ was 81±15.5 (range, 44-111 and total IQ was 83.5±18.3 (range, 40-120. Total IQ was significantly lower in comparison to the normal population (P0.05 for all comparisons. Conclusion: Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus.

  8. Intelligence Quotient (IQ) in Congenital Strabismus*

    Science.gov (United States)

    Bagheri, Abbas; Fallahi, Mohammad Reza; Tamannaifard, Shima; Vajebmonfared, Sara; Zonozian, Saideh

    2013-01-01

    Purpose To evaluate intelligence quotient (IQ) in patients with congenital strabismus. Methods All patients with congenital strabismus scheduled for surgery were enrolled consecutively over a one year period in a cross-sectional study and were evaluated for verbal, performance and total IQ scores, and compared to the mean normal IQ of 100±15. Results During the study period, 109 patients with mean age of 18.4±10.5 (range, 4-63) years were included. Educational status in most patients (80%) was less than high-school. Most patients (80%) lived in urban areas and 46 patients (42.2%) had some degrees of unilateral or bilateral amblyopia. Mean verbal IQ was 87.2±19.6 (range, 45-127), performance IQ was 81±15.5 (range, 44-111) and total IQ was 83.5±18.3 (range, 40-120). Total IQ was significantly lower in comparison to the normal population (Pamblyopia and alternate deviation had lower IQ levels. Verbal IQ was insignificantly higher in myopes than emmetropes and hyperopes. IQ was better with vertical deviations and was higher in esotropes than exotropes; however, these differences were not statistically significant (P>0.05 for all comparisons). Conclusion Patients with congenital strabismus in this study had lower mean IQ scores than the normal population which may be due to genetic background or acquired causes secondary to strabismus. PMID:23943689

  9. Surgical strategy for congenital blepharophimosis syndrome

    Institute of Scientific and Technical Information of China (English)

    HUANG Wei-qing; QIAO Qun; ZHAO Ru; WANG Xiao-jun; FANG Xue-quan

    2007-01-01

    Background So far, most of the surgical techniques for congenital blepharophimosis syndrome are two-stage procedures. In this study, we investigated a modified one-stage procedure to reduce the suffering of patients.Methods From 2003 to 2005, we adopted an one-stage technique combining blepharoptosis correction with medial canthoplasty in 16 patients with congenital blepharophimosis syndrome (10 male, 6 female; aged from 6 to 21). All the patients had bilateral severe blepharoptosis, epicanthus inversus, and flat dorsum nasi. The movement of the upper lid was 0 to 3 mm, vertical length of the eye fissure 2 to 4 mm, horizontal length 13 to 22 mm, and the distance between the eyes was 35 to 39 mm. The patients were followed up for one half to 2 years after the operation.Results In all the patients, after the operation, the horizontal length of the eyelid >25 mm, the vertical length > 6 mm.and the distance between the eyes < 35mm. The appearance of their double eyelids was satisfying.Conclusion The modified one-stage technique combining blepharoptosis correction with medial canthoplasty can achieve favorable outcomes for patients with congenital blepharophimosis syndrome.

  10. Congenital anomalies and proximity to landfill sites.

    LENUS (Irish Health Repository)

    Boyle, E

    2004-01-01

    The occurrence of congenital anomalies in proximity to municipal landfill sites in the Eastern Region (counties Dublin, Kildare, Wicklow) was examined by small area (district electoral division), distance and clustering tendancies in relation to 83 landfills, five of which were major sites. The study included 2136 cases of congenital anomaly, 37,487 births and 1423 controls between 1986 and 1990. For the more populous areas of the region 50% of the population lived within 2-3 km of a landfill and within 4-5 km for more rural areas. In the area-level analysis, the standardised prevalence ratios, empirical and full Bayesian modelling, and Kulldorff\\'s spatial scan statistic found no association between the residential area of cases and location of landfills. In the case control analysis, the mean distance of cases and controls from the nearest landfill was similar. The odds ratios of cases compared to controls for increasing distances from all landfills and major landfills showed no significant difference from the baseline value of 1. The kernel and K methods showed no tendency of cases to cluster in relationship to landfills. In conclusion, congenital anomalies were not found to occur more commonly in proximity to municipal landfills.

  11. Bone conduction hearing in congenital aural atresia.

    Science.gov (United States)

    Zhang, Lichun; Gao, Na; Yin, Yanbo; Yang, Lin; Xie, Youzhou; Chen, Ying; Dai, Peidong; Zhang, Tianyu

    2016-07-01

    Previous researches focusing on BC hearing mechanisms proved that the two routes, (1) EAC sound radiation and (2) inertial of ossicular chain, partially contribute to normal BC hearing. Therefore, the BC hearing for those patients with congenital aural atresia should partially decrease theoretically due to their abnormal anatomy. However, there are not many studies which mention these patients' BC hearing up till now. The objective of this study is to investigate congenital aural atresia patient's BC hearing by analysis of pre-surgical audiogram and to study their potential BC hearing mechanisms using animal modeling and their ABR measurements. The study methoed involves analyzing 75 patients' pre-operative audiogram. Then we produced an animal model by surgery to measure their BC hearing threshold changes. Clinical data showed that those patients had some BC hearing loss; and there were 25 cases (25/75, 33.3 %) which present with typical Carhart's Notch. The animal experiments proved that inertia of ossicular chain contribute to partial BC hearing, which demonstrated that the inertia produced more affects on high frequencies by comparing with low frequencies. The patients with congenital aural atresia present BC hearing loss, which could be mainly ascribed to the absence of inertia of ossicular chain. PMID:26205153

  12. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  13. Congenital urinary tract obstruction: the long view.

    Science.gov (United States)

    Chevalier, Robert L

    2015-07-01

    Maldevelopment of the collecting system resulting in urinary tract obstruction (UTO) is the leading identifiable cause of CKD in children. Specific etiologies are unknown; most cases are suspected by discovering hydronephrosis on prenatal ultrasonography. Congenital UTO can reduce nephron number and cause bladder dysfunction, which contribute to ongoing injury. Severe UTO can impair kidney growth in utero, and animal models of unilateral ureteral obstruction show that ischemia and oxidative stress cause proximal tubular cell death, with later development of interstitial fibrosis. Congenital obstructive nephropathy, therefore, results from combined developmental and obstructive kidney injury. Because of inadequacy of available biomarkers, criteria for surgical correction of upper tract obstruction are poorly established. Lower tract obstruction requires fetal or immediate postnatal intervention, and the rate of progression of CKD is highly variable. New biomarkers based on proteomics and determination of glomerular number by magnetic resonance imaging should improve future care. Angiotensin inhibitors have not been effective in slowing progression, although avoidance of nephrotoxins and timely treatment of hypertension are important. Because congenital UTO begins in fetal life, smooth transfer of care from perinatologist to pediatric and adult urology and nephrology teams should optimize quality of life and ultimate outcomes for these patients. PMID:26088076

  14. Neonatal screening for treatable congenital disorders

    International Nuclear Information System (INIS)

    Congenital hypothyroidism is a treatable disease if detected at the early stage of life. It is one of the most frequent cause of mental retardation in children. In 85 % of cases, congenital hypothyroidism is a consequence of thyroid disgenesis, in which the gland is either absent, located ectopically and/or severely reduced in size. Early detection and treatment with thyroid hormone supplement can significantly reduce mental damage. In 1996, Thailand initiated a neonatal screening programme for congenital hypothyroidism (CHT) and phenylketonuria (PKU), with the objective of bringing a better quality of life to people throughout the country, but especially in the remote areas. The programme involves implementing routine screening nationwide. The plan of action was designed with the goal of having public health service units throughout the country provide neonatal screening by year 2002 for the 1.2 million babies born per annum in Thailand. The government supported the programme by allocating a five-year budget of approximately US$15 million. The programme received additional assistance through technical support and human resource development from the International Atomic Energy Agency (IAEA) and the US Centers for Disease Control. This assistance promoted self-sustainability and strengthened the programme's technical base. The programme is on track. It is expected that by year 2002 all new born babies in Thailand will be screened for CHT and PKU

  15. Pathophysiology of congenital and neonatal hydrocephalus.

    Science.gov (United States)

    McAllister, James P

    2012-10-01

    The pathophysiology of congenital and neonatal hydrocephalus is not well understood although the prognosis for patients with this disorder is far from optimal. A major obstacle to advancing our knowledge of the causes of this disorder and the cellular responses that accompany it is the multifactorial nature of hydrocephalus. Not only is the epidemiology varied and complex, but the injury mechanisms are numerous and overlapping. Nevertheless, several conclusions can be made with certainty: the age of onset strongly influences the degree of impairment; injury severity is dependent on the magnitude and duration of ventriculomegaly; the primary targets are periventricular axons, myelin, and microvessels; cerebrovascular injury mechanisms are prominent; gliosis and neuroinflammation play major roles; some but not all changes are preventable by draining cerebrospinal fluid with shunts and third ventriculostomies; cellular plasticity and physiological compensation probably occur but this is a major under-studied area; and pharmacologic interventions are promising. Rat and mouse models have provided important insights into the pathogenesis of congenital and neonatal hydrocephalus. Ependymal denudation of the ventricular lining appears to affect the development of neural progenitors exposed to cerebrospinal fluid, and alterations of the subcommissural organ influence the patency of the cerebral aqueduct. Recently these impairments have been observed in patients with fetal-onset hydrocephalus, so experimental findings are beginning to be corroborated in humans. These correlations, coupled with advanced genetic manipulations in animals and successful pharmacologic interventions, support the view that improved treatments for congenital and neonatal hydrocephalus are on the horizon. PMID:22800608

  16. Ultrasonographic Findings of Fetal Congenital Intracranial Teratoma

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Hak Jong [Seoul National University College of Medicine, Seoul (Korea, Republic of); Lee, Young Ho; Song, Mi Jin; Cho, Jeong Yeon; Min, Jee Yeon; Moon, Min Hwan; Kim, Jeong Ah [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2005-06-15

    To evaluate the sonographic findings of fetal congenital intracranial teratoma. From 1994 to 2002, of the 11 fetuses which had been diagnosed with fetal intracranial tumors after second level fetal ultrasonography, the six that were confirmed after autopsy as congenital intracranial teratomas were included in our study. The sonographic findings, including size, homogeneity, echogenicity compared with surrounding normal brain tissues, cystic components, and tumor related calcification, were retrospectively evaluated. The incidence of fetal congenital intracranial teratoma out of all fetal intracranial tumors was 54.5% (6 of 11 cases) during the 8-year period. The mean mass size was 7.4 cm (3.0-15.0 cm). Two thirds of (4/6) of the teratoma cases showed high echogenicity compared with normal brain tissues, and two thirds (4/6) showed heterogeneous echogenicity. Four teratoma cases (67%) showed cysts in the mass with a mean size of 1.9cm. One third (2/6) showed calcifications within the tumor. Out of the six cases, two had oropharyngeal teratoma with extension into the intracranial portion (so called epignathus) and showed homogenous mass without any cysts or calcifications. The typical sonographic appearance of intracranial teratoma was a heterogeneous, hyperechoic mass with cysts. In the epignathus cases, the sonographic appearances differed somewhat from the others. An understanding of the sonographic findings of fetal intracranial teratoma will help in the timely counseling of the parents and in obstetric decision making

  17. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  18. Maternal and congenital syphilis in Karnataka, India.

    Science.gov (United States)

    Archana, B R; Prasad, S R; Beena, P M; Okade, R; Sheela, S R; Beeregowda, Y C

    2014-03-01

    Screening women for syphilis during pregnancy and providing proper treatment are the cornerstones of congenital syphilis prevention. During 2008-2011, 6,221 pregnant women were screened for syphilis using the Rapid Plasma Reagin (RPR) and Treponema Pallidum Hemagglutination (TPHA) tests at R.L. Jalappa Hospital, Kolar, Karnataka, India. The seroprevalence of syphilis during pregnancy ranged from 0.57% to 0.78% during the study. Of the 35 women with a positive test, 26 (74.28%) were detected at the time of labor and 9 (25.71%) were detected during antenatal care. None of the women detected at the time of labor received penicillin therapy for syphilis. Adverse fetal outcomes due to untreated syphilis during pregnancy were seen in many of the cases. During the study 26 infants (3.69/1,000) were diagnosed with congenital syphilis. Our findings show detection and treatment of syphilis during pregnancy needs to be strengthened in the study area to reduce the incidence of congenital syphilis. PMID:24968685

  19. Rare copy number variants contribute to congenital left-sided heart disease.

    Directory of Open Access Journals (Sweden)

    Marc-Phillip Hitz

    2012-09-01

    Full Text Available Left-sided congenital heart disease (CHD encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified. In this study, we sought to determine the impact of structural genomic variation on left-sided CHD and compared multiplex families (464 individuals with 174 affecteds (37.5% in 59 multiplex families and 8 trios to 1,582 well-phenotyped controls. 73 unique inherited or de novo CNVs in 54 individuals were identified in the left-sided CHD cohort. After stringent filtering, our gene inventory reveals 25 new candidates for LS-CHD pathogenesis, such as SMC1A, MFAP4, and CTHRC1, and overlaps with several known syndromic loci. Conservative estimation examining the overlap of the prioritized gene content with CNVs present only in affected individuals in our cohort implies a strong effect for unique CNVs in at least 10% of left-sided CHD cases. Enrichment testing of gene content in all identified CNVs showed a significant association with angiogenesis. In this first family-based CNV study of left-sided CHD, we found that both co-segregating and de novo events associate with disease in a complex fashion at structural genomic level. Often viewed as an anatomically circumscript disease, a subset of left-sided CHD may in fact reflect more general genetic perturbations of angiogenesis and/or vascular biology.

  20. ISOLATED CONGENITAL CHOLESTEATOMA OF THE MASTOID PROCESS: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shankar

    2014-11-01

    Full Text Available Congenital Cholesteatomas have historically been considered a rare disorder, an incidence ranging from 4 to 24%. The most common sites of presentation on physical examination are Anterior superior and posterior superior quadrants of the tympanic membrane; conductive hearing loss is the most common presenting symptom. There is a lack of uniformity of reporting and classifying congenital cholesteatomas. Recidivism of the lesion appears more commonly with posterior superior congenital cholesteatomas. Treatment of Congenital Cholesteatoma is still surgical. We are here presenting a case of isolated congenital cholesteatoma in Mastoid process treated with modified radical mastoidectomy and tympanoplasty, patient followed up to one year no recurrent was found, hearing also improved, heightened awareness and early diagnosis of congenital cholesteatoma is imperative, early treatment decreases the extent of the disease and reduces the risk of recidivism and complications.

  1. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  2. Familial aggregation of congenital hydrocephalus in a nationwide cohort

    DEFF Research Database (Denmark)

    Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee;

    2012-01-01

    The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

  3. Congenital absence of superficial posterior compartment calf muscles

    OpenAIRE

    Tibrewal, Saket; Alyas, Faisal; Vemulapalli, Krishna

    2013-01-01

    Although various congenital abnormalities have been described, congenital absence of calf musculature is extremely rare, with only one report on its complete absence. We are the first to describe a case of congenital absence of muscles of the superficial posterior compartment of the calf presenting in a toddler. The child presented with a history of a painless limp, however no significant difference was found in functional gait analysis. We suggest that such cases should be monitored and pare...

  4. Congenital epulis: prenatal imaging with MRI and ultrasound

    Energy Technology Data Exchange (ETDEWEB)

    Roy, Sylvain; Patenaude, Yves G. [Department of Diagnostic Radiology, CHUS-Hopital Fleurimont, 3001 12 Ave Nord, J1H 5N4, Fleurimont, Quebec (Canada); Sinsky, Anna [Department of Diagnostic Radiology, UNC School of Medicine, 3322 Old Infirmary Building, NC 27599-7510, Chapel Hill (United States); Williams, Bruce [Department of Surgery, Montreal Children' s Hospital, Room C1139, 2300 Tupper Street, H3H 1P3, Montreal, Quebec (Canada); Desilets, Valerie [Department of Obstetrics and Gynecology, Royal Victoria Hospital, 687 Pine Avenue West, H3A 1A1, Montreal, Quebec (Canada)

    2003-11-01

    Congenital epulis is an uncommon benign tumor that originates from the alveolar ridge in newborns. It is also known as congenital gingival granular cell tumor. Although there have been around 200 reports of its postnatal diagnosis, this oral tumor has rarely been diagnosed prenatally. We present fetal MRI and Doppler prenatal imaging of an infant with two congenital epulides (simultaneous involvement of superior and inferior maxillas). (orig.)

  5. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

    Alok Sachan; V. Suresh; D Rajasekhar; V. Vanaja; Harinarayan, C. V.; Rajagopal, G.; P Amaresh Reddy

    2010-01-01

    Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59...

  6. Congenital heart disease and chromossomopathies detected by the karyotype

    OpenAIRE

    Patrícia Trevisan; Rafael Fabiano M. Rosa; Dayane Bohn Koshiyama; Tatiana Diehl Zen; Giorgio Adriano Paskulin; Paulo Ricardo G Zen

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of les...

  7. CONGENITAL DISLOCATION OF RIGHT HIP JOINT: IMPORTANCE OF DYNAMIC ASSESSMENT

    OpenAIRE

    Pranita viveki; R. G. Viveki

    2014-01-01

    Congenital Dislocation of Hip (CDH), is one of the most common congenital diseases in the orthopedic field. It is also known as Developmental Dysplasia of Hip. The condition can be diagnosed by clinical, ultrasonographic and radiological examination. Here we are reporting two days old male baby with congenital dislocation of right hip joint. The goal of treatment is to obtain a reduction to provide an optimal environment for femoral head and acetabular development. Early diagnosis is the mo...

  8. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  9. SBE primer : multiplexing minisequencing-based genotyping

    Energy Technology Data Exchange (ETDEWEB)

    Kaderali, L. (Lars); Deshpande, A. (Alina); Uribe-Romeo, F. J. (Francisco J.); Schliep, A.; Torney, D. C. (David C.)

    2002-01-01

    Single-nucleotide polymorphism (SNP) analysis is a powerful tool for mapping and diagnosing disease-related alleles. Most of the known genetic diseases are caused by point mutations, and a growing number of SNPs will be routinely analyzed to diagnose genetic disorders. Mutation analysis by polymerase mediated single-base primer extension (minisequencing) can be massively parallelized using for example DNA microchips or flow cytometry with microspheres as solid support. By adding a unique oligonucleotide tag to the 5-inch end of the minisequencing primer and attaching the complementary anti-tag to the array or bead surface, the assay can be 'demultiplexed'. However, such high-throughput scoring of SNPs requires a high level of primer multiplexing in order to analyze multiple loci in one assay, thus enabling inexpensive and fast polymorphism scoring. Primers can be chosen from either the plus or the minus strand, and primers used in the same experiment must not bind to one another. To genotype a given number of polymorphic sites, the question is which primer to use for each SNP, and which primers to group into the same experiment. Furthermore, a crosshybridization-free tag/anti-tag code is required in order to sort the extended primers to the corresponding microspheres or chip spots. These problems pose challenging algorithmic questions. We present a computer program lo automate the design process for the assay. Oligonucleotide primers for the reaction are automatically selected by the software, a unique DNA tag/anti-tag system is generated, and the pairing of primers and DNA-Tags is automatically done in a way to avoid any crossreactivity. We report first results on a 45-plex genotyping assay, indicating that minisequencing can be adapted to be a powerful tool for high-throughput, massively parallel genotyping.

  10. A new OTDR based on probe frequency multiplexing

    Science.gov (United States)

    Lu, Lidong; Liang, Yun; Li, Binglin; Guo, Jinghong; Zhang, Xuping

    2013-12-01

    Two signal multiplexing methods are proposed and experimentally demonstrated in optical time domain reflectometry (OTDR) for fault location of optical fiber transmission line to obtain high measurement efficiency. Probe signal multiplexing is individually obtained by phase modulation for generation of multi-frequency and time sequential frequency probe pulses. The backscattered Rayleigh light of the multiplexing probe signals is transferred to corresponding heterodyne intermediate frequency (IF) through heterodyning with the single frequency local oscillator (LO). Then the IFs are simultaneously acquired by use of a data acquisition card (DAQ) with sampling rate of 100Msps, and the obtained data are processed by digital band pass filtering (BPF), digital down conversion (DDC) and digital low pass filtering (BPF) procedure. For each probe frequency of the detected signals, the extraction of the time domain reflecting signal power is performed by parallel computing method. For a comprehensive performance comparison with conventional coherent OTDR on the probe frequency multiplexing methods, the potential for enhancement of dynamic range, spatial resolution and measurement time are analyzed and discussed. Experimental results show that by use of the probe frequency multiplexing method, the measurement efficiency of coherent OTDR can be enhanced by nearly 40 times.

  11. Strategical incoherence regulates cooperation in social dilemmas on multiplex networks.

    Science.gov (United States)

    Matamalas, Joan T; Poncela-Casasnovas, Julia; Gómez, Sergio; Arenas, Alex

    2015-01-01

    Cooperation is a very common, yet not fully-understood phenomenon in natural and human systems. The introduction of a network within the population is known to affect the outcome of cooperative dynamics, allowing for the survival of cooperation in adverse scenarios. Recently, the introduction of multiplex networks has yet again modified the expectations for the outcome of the Prisoner's Dilemma game, compared to the monoplex case. However, much remains unstudied regarding other social dilemmas on multiplex, as well as the unexplored microscopic underpinnings of it. In this paper, we systematically study the evolution of cooperation in all four games in the T-S plane on multiplex. More importantly, we find some remarkable and previously unknown features in the microscopic organization of the strategies, that are responsible for the important differences between cooperative dynamics in monoplex and multiplex. Specifically, we find that in the stationary state, there are individuals that play the same strategy in all layers (coherent), and others that don't (incoherent). This second group of players is responsible for the surprising fact of a non full-cooperation in the Harmony Game on multiplex, never observed before, as well as a higher-than-expected cooperation rates in some regions of the other three social dilemmas.

  12. Simultaneous detection of HBV and HCV by multiplex PCR normalization

    Institute of Scientific and Technical Information of China (English)

    Ning Wang; Xue-Qin Gao; Jin-Xiang Han

    2004-01-01

    AIM: To design and establish a method of multiplex PCR normalization for simultaneously detecting HBV and HCV.METHODS: Two pairs of primers with a 20 bp joint sequence were used to amplify the target genes of HBV and HCV by two rounds of amplification. After the two rounds of amplification all the products had the joint sequence. Then the joint sequence was used as primers to finish the last amplification. Finally multiplex PCR was normalized to a single PCR system to eliminate multiplex factor interference. Four kinds of nucleic acid extraction methods were compared and screened. A multiplex PCR normalization method was established and optimized by orthogonal design of 6 key factors. Then twenty serum samples were detected to evaluate the validity and authenticity of this method.RESULTS: The sensitivity, specificity, diagnostic index and efficiency were 83.3%, 70%, 153.3% and 72.2%,respectively for both HBsAg and anti-HCV positive patients,and were 78.6%, 80%, 258.6% and 79.2%, respectively for HBsAg positive patients, and were 75%, 90%, 165%and 83.3%, respectively for anti-HCV positive patients.CONCLUSION: The multiplex PCR normalization method shows a broad prospect in simultaneous amplification of multiple genes of different sources. It is practical, correct and authentic, and can be used to prevent and control HBV and HCV.

  13. Strategical incoherence regulates cooperation in social dilemmas on multiplex networks

    Science.gov (United States)

    Matamalas, Joan T.; Poncela-Casasnovas, Julia; Gómez, Sergio; Arenas, Alex

    2015-04-01

    Cooperation is a very common, yet not fully-understood phenomenon in natural and human systems. The introduction of a network within the population is known to affect the outcome of cooperative dynamics, allowing for the survival of cooperation in adverse scenarios. Recently, the introduction of multiplex networks has yet again modified the expectations for the outcome of the Prisoner's Dilemma game, compared to the monoplex case. However, much remains unstudied regarding other social dilemmas on multiplex, as well as the unexplored microscopic underpinnings of it. In this paper, we systematically study the evolution of cooperation in all four games in the T - S plane on multiplex. More importantly, we find some remarkable and previously unknown features in the microscopic organization of the strategies, that are responsible for the important differences between cooperative dynamics in monoplex and multiplex. Specifically, we find that in the stationary state, there are individuals that play the same strategy in all layers (coherent), and others that don't (incoherent). This second group of players is responsible for the surprising fact of a non full-cooperation in the Harmony Game on multiplex, never observed before, as well as a higher-than-expected cooperation rates in some regions of the other three social dilemmas.

  14. Simultaneous multiplex PCR detection of seven cucurbit-infecting viruses.

    Science.gov (United States)

    Kwon, Ji Yeon; Hong, Jin Sung; Kim, Min Jea; Choi, Sun Hee; Min, Byeong Eun; Song, Eun Gyeong; Kim, Hyun Hee; Ryu, Ki Hyun

    2014-09-01

    Two multiplex polymerase chain reaction (PCR) systems using dual priming oligonucleotide (DPO) primers were developed for the simultaneous detection of seven cucurbit-infecting viruses. One system allows for the detection of papaya ringspot virus, watermelon mosaic virus, and zucchini yellow mosaic virus, whereas the other permits the detection of cucumber green mottle mosaic virus, cucumber fruit mottle mosaic virus, kyuri green mottle mosaic virus, and zucchini green mottle mosaic virus. Viral species-specific DPO primers developed in this study detected as little as 10 fg/μl of viral RNA under monoplex conditions and 10 pg/μl of viral RNA under multiplex conditions. Multiplex PCR using the DPO primer sets was capable of amplifying viral genes at annealing temperatures ranging from 53 °C to 63 °C. Whereas the use of conventional primers gave rise to non-specific bands, the DPO primers detected target viral genes in the absence of non-specific amplification. When these DPO multiplex primer sets were applied to virus-infected cucurbit samples obtained in the field, multiple infection as well as single infection was accurately identified. This novel approach could also detect multiple viruses in infected seeds. The reliability of multiplex PCR systems using DPO primers for plant virus detection is discussed. PMID:24937806

  15. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  16. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Atsushi Nakao

    2013-10-01

    Full Text Available Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus. Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

  17. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    OpenAIRE

    Diana Bancin; Elisabeth S. Herini; Pungky Ardani Kusuma; Neti Nurani

    2016-01-01

    Congenital obstructive posterior urethral membranes (COPUM) is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as par...

  18. 76 FR 48169 - Advancing Regulatory Science for Highly Multiplexed Microbiology/Medical Countermeasure Devices...

    Science.gov (United States)

    2011-08-08

    ... Microbiology/ Medical Countermeasure Devices; Public Meeting AGENCY: Food and Drug Administration, HHS. ACTION... following public meeting: ``Advancing Regulatory Science for Highly Multiplexed Microbiology/Medical... multiplexed microbiology/medical countermeasure (MCM) devices, their clinical application and public...

  19. CCD-scale Far-IR Detector Arrays Using Code Domain Multiplexing Project

    Data.gov (United States)

    National Aeronautics and Space Administration — For this program, we are partnering with Stanford University, who will provide CDM multiplexers. We will assemble the multiplexers into a scalable...

  20. Congenital cystic disorders of lung masquerading as complicated pneumonia and pneumothorax: A case series

    OpenAIRE

    Nandi, Madhumita; Mondal, Rakesh

    2013-01-01

    Abstract. Congenital cystic adenomatoid malformation and congenital lobar emphysema are rare embryonic congenital disorders of lung. We report seven such cases of congenital cystic pulmonary disorders out of which, four cases were of congenital cystic adenomatoid malformation and three cases of congenital lobar emphysema. All cases presented with recurrent or persistent pulmonary infection and pneumothorax. These cases had been masquerading as pneumonia and/ or its complication and were treat...