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Sample records for congenital amaurosis diagnosis

  1. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

    ... amaurosis, Leber congenital congenital amaurosis of retinal origin congenital retinal blindness CRB dysgenesis neuroepithelialis retinae hereditary epithelial dysplasia of retina hereditary retinal aplasia heredoretinopathia congenitalis LCA ...

  2. Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.

    Science.gov (United States)

    Coppieters, Frauke; De Wilde, Bram; Lefever, Steve; De Meester, Ellen; De Rocker, Nina; Van Cauwenbergh, Caroline; Pattyn, Filip; Meire, Françoise; Leroy, Bart P; Hellemans, Jan; Vandesompele, Jo; De Baere, Elfride

    2012-06-01

    Leber congenital amaurosis (LCA) is a rare congenital retinal dystrophy associated with 16 genes. Recent breakthroughs in LCA gene therapy offer the first prospect of treating inherited blindness, which requires an unequivocal and early molecular diagnosis. While present genetic tests do not address this due to a tremendous genetic heterogeneity, massively parallel sequencing (MPS) strategies might bring a solution. Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes. We designed a unique and flexible workflow for targeted resequencing of all 236 exons from 16 LCA genes based on quantitative PCR (qPCR) amplicon ligation, shearing, and parallel sequencing of multiple patients on a single lane of a short-read sequencer. Twenty-two prescreened LCA patients were included, five of whom had a known molecular cause. Validation of 107 variations was performed as proof of concept. In addition, the causal genetic defect and a single heterozygous mutation were identified in 3 and 5, respectively, of 17 patients without previously identified mutations. We propose a novel targeted MPS-based approach that is suitable for accurate, fast, and cost-effective early molecular testing in LCA, and easily applicable in other genetic disorders.

  3. Leber's Congenital Amaurosis and Gene Therapy.

    Science.gov (United States)

    Takkar, Brijesh; Bansal, Pooja; Venkatesh, Pradeep

    2017-07-07

    Retinal blindness is an important cause of pediatric visual loss. Leber's congenital amaurosis (LCA) is one of these causes, often wrongly included in the spectrum of retinitis pigmentosa. The disease has become the center of research after initial reports of success in management with gene therapy. This review discusses in brief the clinical presentation and investigative modalities used in LCA. Further, the road to gene discovery and details of currently applied gene therapy are presented. LCA is one of the first successfully managed human diseases and offers an entirely new dimension in ocular therapeutics.

  4. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

    Science.gov (United States)

    Hanein, Sylvain; Perrault, Isabelle; Gerber, Sylvie; Tanguy, Gaëlle; Barbet, Fabienne; Ducroq, Dominique; Calvas, Patrick; Dollfus, Hélène; Hamel, Christian; Lopponen, Tuija; Munier, Francis; Santos, Louisa; Shalev, Stavit; Zafeiriou, Dimitrios; Dufier, Jean-Louis; Munnich, Arnold; Rozet, Jean-Michel; Kaplan, Josseline

    2004-04-01

    Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resulting in an unforeseeable physiopathologic variety. This wide genetic and physiologic heterogeneity that could largely increase in the coming years, hinders the molecular diagnosis in LCA patients. The genotyping is, however, required to establish genetically defined subgroups of patients ready for therapy. Here, we report a comprehensive mutational analysis of the all known genes in 179 unrelated LCA patients, including 52 familial and 127 sporadic (27/127 consanguineous) cases. Mutations were identified in 47.5% patients. GUCY2D appeared to account for most LCA cases of our series (21.2%), followed by CRB1 (10%), RPE65 (6.1%), RPGRIP1 (4.5%), AIPL1 (3.4%), TULP1 (1.7%), and CRX (0.6%). The clinical history of all patients with mutations was carefully revisited to search for phenotype variations. Sound genotype-phenotype correlations were found that allowed us to divide patients into two main groups. The first one includes patients whose symptoms fit the traditional definition of LCA, i.e., congenital or very early cone-rod dystrophy, while the second group gathers patients affected with severe yet progressive rod-cone dystrophy. Besides, objective ophthalmologic data allowed us to subdivide each group into two subtypes. Based on these findings, we have drawn decisional flowcharts directing the molecular analysis of LCA genes in a given case. These flowcharts will hopefully lighten the heavy task of genotyping new patients but only if one has access to the most precise clinical history since birth.

  5. Leber congenital amaurosis: genes, proteins and disease mechanisms.

    NARCIS (Netherlands)

    Hollander, A.I. den; Roepman, R.; Koenekoop, R.K.; Cremers, F.P.M.

    2008-01-01

    Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retina

  6. [Progress in gene therapy study of Leber congenital amaurosis].

    Science.gov (United States)

    Pan, Shan-Shan; Zheng, Qin-Xiang; Li, Wen-Sheng; Pang, Ji-Jing

    2011-01-01

    Leber congenital amaurosis (LCA) is an early onset retinal dystrophy that causes severe visual impairment. With the development of molecular genetics and the therapeutic gene replacement technology, the adeno-associated viral (AAV) vector-mediated gene therapy for LCA achieved encouraging progress in the past decade. The success of the Phase I clinical trials of human RPE65 gene therapy for LCA II patients makes it a pioneer in the field of retinal gene therapy and brings light to the cure of other hereditary retinopathy. This article briefly reviews the recent developments in the preclinical animal experiments and Phase I clinical trials for LCA.

  7. Available Evidence on Leber Congenital Amaurosis and Gene Therapy.

    Science.gov (United States)

    Alkharashi, Maan; Fulton, Anne B

    2017-01-01

    Leber congenital amaurosis (LCA) is a group of severe inherited retinal dystrophies that lead to early childhood blindness. In the last decade, interest in LCA has increased as advances in genetics have been applied to better identify, classify, and treat LCA. To date, 23 LCA genes have been identified. Gene replacement in the RPE65 form of LCA represents a major advance in treatment, although limitations have been recognized. In this article, we review the clinical and genetic features of LCA and evaluate the evidence available for gene therapy in RPE65 disease.

  8. Gene therapy for Leber congenital amaurosis: advances and future directions.

    Science.gov (United States)

    Hufnagel, Robert B; Ahmed, Zubair M; Corrêa, Zélia M; Sisk, Robert A

    2012-08-01

    Leber congenital amaurosis (LCA) is a congenital retinal dystrophy that results in significant and often severe vision loss at an early age. Comprehensive analysis of the genetic mutations and phenotypic correlations in LCA patients has allowed for significant improvements in understanding molecular pathways of photoreceptor degeneration and dysfunction. The purpose of this article is to review the literature on the subject of retinal gene therapy for LCA, including historical descriptions, preclinical animal studies, and human clinical trials. A literature search of peer-reviewed and indexed publications from 1996-2011 using the PubMed search engine was performed. Key terms included "Leber congenital amaurosis", LCA, RPE65, "cone-rod dystrophy", "gene therapy", and "human trials" in various combinations. Seminal articles prior to 1996 were selected from primary sources and reviews from the initial search. Articles were chosen based on pertinence to clinical, genetic, and therapeutic topics reviewed in this manuscript. Fundus photographs from LCA patients were obtained retrospectively from the clinical practice of one of the authors (R.A.S). Herein, we reviewed the literature on LCA as a genetic disease, the results of human gene therapy trials to date, and possible future directions towards treating inherited retinal diseases at the genetic level. Original descriptions of LCA by Theodor Leber and subsequent research demonstrate the severity of this disease with early-onset blindness. Discoveries of the causative heritable mutations revealed genes and protein products involved in photoreceptor development and visual transduction. Animal models have provided a means to test novel therapeutic strategies, namely gene therapy. Stemming from these experiments, three independent clinical trials tested the safety of subretinal delivery of viral gene therapy to patients with mutations in the RPE65 gene. More recently, efficacy studies have been conducted with encouraging

  9. Safety and efficacy of gene transfer for Leber's congenital amaurosis.

    Science.gov (United States)

    Maguire, Albert M; Simonelli, Francesca; Pierce, Eric A; Pugh, Edward N; Mingozzi, Federico; Bennicelli, Jeannette; Banfi, Sandro; Marshall, Kathleen A; Testa, Francesco; Surace, Enrico M; Rossi, Settimio; Lyubarsky, Arkady; Arruda, Valder R; Konkle, Barbara; Stone, Edwin; Sun, Junwei; Jacobs, Jonathan; Dell'Osso, Lou; Hertle, Richard; Ma, Jian-xing; Redmond, T Michael; Zhu, Xiaosong; Hauck, Bernd; Zelenaia, Olga; Shindler, Kenneth S; Maguire, Maureen G; Wright, J Fraser; Volpe, Nicholas J; McDonnell, Jennifer Wellman; Auricchio, Alberto; High, Katherine A; Bennett, Jean

    2008-05-22

    Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, NCT00516477 [ClinicalTrials.gov]). Three patients with LCA2 had an acceptable local and systemic adverse-event profile after delivery of AAV2.hRPE65v2. Each patient had a modest improvement in measures of retinal function on subjective tests of visual acuity. In one patient, an asymptomatic macular hole developed, and although the occurrence was considered to be an adverse event, the patient had some return of retinal function. Although the follow-up was very short and normal vision was not achieved, this study provides the basis for further gene therapy studies in patients with LCA. Copyright 2008 Massachusetts Medical Society.

  10. CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype.

    Science.gov (United States)

    Burnight, E R; Wiley, L A; Drack, A V; Braun, T A; Anfinson, K R; Kaalberg, E E; Halder, J A; Affatigato, L M; Mullins, R F; Stone, E M; Tucker, B A

    2014-07-01

    Mutations in CEP290 are the most common cause of Leber congenital amaurosis (LCA), a severe inherited retinal degenerative disease for which there is currently no cure. Autosomal recessive CEP290-associated LCA is a good candidate for gene replacement therapy, and cells derived from affected individuals give researchers the ability to study human disease and therapeutic gene correction in vitro. Here we report the development of lentiviral vectors carrying full-length CEP290 for the purpose of correcting the CEP290 disease-specific phenotype in human cells. A lentiviral vector containing CMV-driven human full-length CEP290 was constructed. Following transduction of patient-specific, iPSC-derived, photoreceptor precursor cells, reverse transcriptase-PCR analysis and western blotting revealed vector-derived expression. As CEP290 is important in ciliogenesis, the ability of fibroblast cultures from CEP290-associated LCA patients to form cilia was investigated. In cultures derived from these patients, fewer cells formed cilia compared with unaffected controls. Cilia that were formed were shorter in patient-derived cells than in cells from unaffected individuals. Importantly, lentiviral delivery of CEP290 rescued the ciliogenesis defect. The successful construction and viral transfer of full-length CEP290 brings us closer to the goal of providing gene- and cell-based therapies for patients affected with this common form of LCA.

  11. Advantage of whole exome sequencing over allele-specific and targeted segment sequencing in detection of novel TULP1 mutation in leber congenital amaurosis

    DEFF Research Database (Denmark)

    Guo, Yiran; Prokudin, Ivan; Yu, Cong

    2015-01-01

    Background: Leber congenital amaurosis (LCA) is a severe form of retinal dystrophy with marked underlying genetic heterogeneity. Until recently, allele-specific assays and Sanger sequencing of targeted segments were the only available approaches for attempted genetic diagnosis in this condition. ...

  12. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

    NARCIS (Netherlands)

    Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; Dharmaraj, S.; Lopez, I.; Ivings, L.; Williams, G.A.; Springell, K.; Woods, C.G.; Jafri, H.; Rashid, Y.; Strom, T.M.; Zwaag, B. van der; Gosens, I.; Kersten, F.F.J.; Wijk, E. van; Veltman, J.A.; Zonneveld, M.N.; Beersum, S.E.C. van; Maumenee, I.H.; Wolfrum, U.; Cheetham, M.E.; Ueffing, M.; Cremers, F.P.M.; Inglehearn, C.F.; Roepman, R.

    2007-01-01

    Leber congenital amaurosis (LCA) causes blindness or severe visual impairment at or within a few months of birth. Here we show, using homozygosity mapping, that the LCA5 gene on chromosome 6q14, which encodes the previously unknown ciliary protein lebercilin, is associated with this disease. We dete

  13. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population

    NARCIS (Netherlands)

    Corton, M.; Avila-Fernandez, A.; Vallespin, E.; Lopez-Molina, M.I.; Almoguera, B.; Martin-Garrido, E.; Tatu, S.D.; Khan, M.I.; Blanco-Kelly, F.; Riveiro-Alvarez, R.; Brion, M.; Garcia-Sandoval, B.; Cremers, F.P.M.; Carracedo, A.; Ayuso, C.

    2014-01-01

    OBJECTIVE: We aimed to identify novel genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describe the associated phenotype. DESIGN: Case series. PARTICIPANTS: A cohort of 217 unrelated Spanish families affected by autosomal recessive or isol

  14. Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

    NARCIS (Netherlands)

    Wang, H.; Hollander, A.I. den; Moayedi, Y.; Abulimiti, A.; Li, Yumei; Collin, R.W.J.; Hoyng, C.B.; Lopez, I.; Bray, M.; Lewis, R.A.; Lupski, J.R.; Mardon, G.; Koenekoop, R.K.; Chen, R.

    2009-01-01

    Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are the most common hereditary causes of visual impairment in infants and children. Using homozygosity mapping, we narrowed down the critical region of the LCA3 locus to 3.8 Mb between markers D14S1022 and D14S1005. By direct

  15. Leber congenital amaurosis: genes, proteins and disease mechanisms.

    Science.gov (United States)

    den Hollander, Anneke I; Roepman, Ronald; Koenekoop, Robert K; Cremers, Frans P M

    2008-07-01

    Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases. Several of these genes have also been implicated in other non-syndromic or syndromic retinal diseases, such as retinitis pigmentosa and Joubert syndrome, respectively. CEP290 (15%), GUCY2D (12%), and CRB1 (10%) are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in approximately 20% of all LCA patients from north-western Europe, although this frequency is lower in other populations. Despite the large degree of genetic and allelic heterogeneity, it is possible to identify the causative mutations in approximately 55% of LCA patients by employing a microarray-based, allele-specific primer extension analysis of all known DNA variants. The LCA genes encode proteins with a wide variety of retinal functions, such as photoreceptor morphogenesis (CRB1, CRX), phototransduction (AIPL1, GUCY2D), vitamin A cycling (LRAT, RDH12, RPE65), guanine synthesis (IMPDH1), and outer segment phagocytosis (MERTK). Recently, several defects were identified that are likely to affect intra-photoreceptor ciliary transport processes (CEP290, LCA5, RPGRIP1, TULP1). As the eye represents an accessible and immune-privileged organ, it appears to be uniquely suitable for human gene replacement therapy. Rodent (Crb1, Lrat, Mertk, Rpe65, Rpgrip1), avian (Gucy2D) and canine (Rpe65) models for LCA and profound visual impairment have been successfully corrected employing adeno-associated virus or lentivirus-based gene therapy. Moreover, phase 1 clinical trials have been carried out in humans with RPE65 deficiencies. Apart from ethical considerations inherently linked to treating children, major

  16. Review and update on the molecular basis of Leber congenital amaurosis.

    Science.gov (United States)

    Chacon-Camacho, Oscar Francisco; Zenteno, Juan Carlos

    2015-02-16

    Inherited retinal diseases are uncommon pathologies and one of the most harmful causes of childhood and adult blindness. Leber congenital amaurosis (LCA) is the most severe kind of these diseases accounting for approximately 5% of the whole retinal dystrophies and 20% of the children that study on blind schools. Clinical ophthalmologic findings including severe vision loss, nystagmus and ERG abnormalities should be suspected through the first year of life in this group of patients. Phenotypic variability is found when LCA patients have a full ophthalmologic examination. However, a correct diagnosis may be carried out; the determination of ophthalmologic clues as light sensibility, night blindness, fundus pigmentation, among other, join with electroretinographics findings, optical coherence tomography, and new technologies as molecular gene testing may help to reach to a precise diagnosis. Several retinal clinical features in LCA may suggest a genetic or gene particular defect; thus genetic-molecular tools could directly corroborate the clinical diagnosis. Currently, approximately 20 genes have been associated to LCA. In this review, historical perspective, clinical ophthalmological findings, new molecular-genetics technologies, possible phenotype-genotypes correlations, and gene therapy for some LCA genes are described.

  17. Leber’s congenital amaurosis and the role of gene therapy in congenital retinal disorders

    Directory of Open Access Journals (Sweden)

    Walid Sharif

    2017-03-01

    Full Text Available Leber’s congenital amaurosis (LCA and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. Adeno-associated viral vectors were the most utilised vectors for ocular gene therapy. Cone photoreceptor cells might use an alternate pathway which was not reliant of the retinal pigment epithelium (RPE derived retinoid isomerohydrolase (RPE65 to access the 11-cis retinal dehydechromophore. Research efforts dedicated on the progression of a gene-based therapy for the treatment of LCA2. Such gene therapy approaches were extremely successful in canine, porcine and rodent LCA2 models. The recombinant AAV2.hRPE65v2 adeno-associated vector contained the RPE65 cDNA and was replication deficient. Its in vitro injection in target cells induced RPE65 protein production. The gene therapy trials that were so far conducted for inherited retinopathies have generated promising results. Phase I clinical trials to cure LCA and choroideremia demonstrated that adeno-associated viral vectors containing RPE genes and photoreceptors respectively, could be successfully administered to inherited retinopathy patients. A phase III trial is presently ongoing and if successful, it will lead the way to additional gene therapy attempts to cure monogenic, inherited retinopathies.

  18. Leber's congenital amaurosis and the role of gene therapy in congenital retinal disorders.

    Science.gov (United States)

    Sharif, Walid; Sharif, Zuhair

    2017-01-01

    Leber's congenital amaurosis (LCA) and recent gene therapy advancement for treating inherited retinopathies were extensive literature reviewed using MEDLINE, PubMed and EMBASE. Adeno-associated viral vectors were the most utilised vectors for ocular gene therapy. Cone photoreceptor cells might use an alternate pathway which was not reliant of the retinal pigment epithelium (RPE) derived retinoid isomerohydrolase (RPE65) to access the 11-cis retinal dehydechromophore. Research efforts dedicated on the progression of a gene-based therapy for the treatment of LCA2. Such gene therapy approaches were extremely successful in canine, porcine and rodent LCA2 models. The recombinant AAV2.hRPE65v2 adeno-associated vector contained the RPE65 cDNA and was replication deficient. Its in vitro injection in target cells induced RPE65 protein production. The gene therapy trials that were so far conducted for inherited retinopathies have generated promising results. Phase I clinical trials to cure LCA and choroideremia demonstrated that adeno-associated viral vectors containing RPE genes and photoreceptors respectively, could be successfully administered to inherited retinopathy patients. A phase III trial is presently ongoing and if successful, it will lead the way to additional gene therapy attempts to cure monogenic, inherited retinopathies.

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

    Science.gov (United States)

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

    2007-12-01

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

  20. Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee.

    Science.gov (United States)

    Coussa, Razek Georges; Lopez Solache, Irma; Koenekoop, Robert K

    2017-01-01

    This article is dedicated to Irene Hussels Maumenee, Professor of Human Genetics and Ophthalmology, Johns Hopkins' Wilmer Eye Institute, Ocular Genetics Fellowship director in 1994-1995. Leber congenital amaurosis (LCA) has almost come full circle, from a profound and molecularly uncharacterized form of congenital retinal blindness to one in which a large number of causative genes and disease pathways are known, and the world's first human retinal disease to be treated by gene therapy. Dr. Maumenee's insights, efforts, and leadership have contributed significantly to this remarkable scientific journey. In this manuscript, we present a short summary of the known LCA genes, LCA disease subtypes, and emerging treatment options. Our manuscript consolidates previous knowledge with current findings in an attempt to provide a more comprehensive understanding of LCA.

  1. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

    NARCIS (Netherlands)

    Yzer, Suzanne; den Hollander, Anneke I.; Lopez, Irma; Pott, Jan-Willem R.; de Faber, Jan Tjeerd H. N.; Cremers, Frans P. M.; Koenekoop, Robert K.; van den Born, L. Ingeborgh

    2012-01-01

    Purpose: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). Methods: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequen

  2. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

    NARCIS (Netherlands)

    Yzer, S.; Hollander, A.I. den; Lopez, I.; Pott, J.W.; Faber, J.T. de; Cremers, F.P.; Koenekoop, R.K.; Born, L.I. van den

    2012-01-01

    PURPOSE: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). METHODS: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequen

  3. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290

    NARCIS (Netherlands)

    Yzer, Suzanne; den Hollander, Anneke I.; Lopez, Irma; Pott, Jan-Willem R.; de Faber, Jan Tjeerd H. N.; Cremers, Frans P. M.; Koenekoop, Robert K.; van den Born, L. Ingeborgh

    2012-01-01

    Purpose: This study investigated the centrosomal protein, 290-KD (CEP290) associated genotype and ocular and extra-ocular phenotype in 18 patients with Leber congenital amaurosis (LCA). Methods: Eighteen patients with LCA from 14 families with mutations in the CEP290 gene were identified with sequen

  4. Abnormalities of the five serum ions in patients with Leber congenital amaurosis

    Directory of Open Access Journals (Sweden)

    Zhi-Zhong Wu

    2017-03-01

    Full Text Available AIM:To study the concentration changes of the serum magnesium, calcium, potassium, sodium and chloride ions of the patients of Leber congenital amaurosis(LCA.METHODS:Based on the retrospective study and the simple size in the statistics, 50 cases of LCA patients and 99 cases of normal people were tested the serum ions by professionals in hospital according to the single blind study. Data were analyzed statistically between LCA and normal groups. RESULTS: In the clinical serum ions test of LCA group, the concentration of calcium and potassium were 2.338±0.090mmol/L and 4.164±0.356mmol/L respectively, which were significantly higher than those of the normal group(all PPP>0.05. CONCLUSION: In the patients with LCA, abnormal concentration changes of magnesium, calcium and potassium will be needed to concern of the ophthalmologist, which is probably related with the occurrence of LCA.

  5. Leber's congenital amaurosis as the retinal degenerative phenotype in thiamine responsive megaloblastic anemia: a case report.

    Science.gov (United States)

    Srikrupa, Natarajan N; Meenakshi, Swaminathan; Arokiasamy, Tharigopala; Murali, Kaushik; Soumittra, Nagasamy

    2014-06-01

    Thiamine responsive megaloblastic anemia syndrome (TRMA), an autosomal recessive disorder is caused by mutations in the SLC19A2 gene which encodes for thiamine transporter 1 (THTR1) protein. TRMA presents with a triad of clinical features that includes diabetes mellitus, megaloblastic anemia and sensorineural hearing loss. Apart from the triad, reported ophthalmic features include cone rod dystrophy, optic atropy and retinitis pigmentosa. A female child presented with Leber's congenital amaurosis at 10 months of age, later diagnosed with hearing impairment at 1 year, diabetes mellitus and megaloblastic anemia at 3 and a half years of age and hence as a case of thiamine responsive megaloblastic anemia. Six exons of the candidate gene SLC19A2 were screened by PCR and direct sequencing. SIFT and PolyPhen analysis was done to predict the probable effect of the mutation. Sequence analysis of the SLC19A2 coding region revealed a novel missense mutation in exon 2; c.314 G > A (p.G105E). Segregation analysis revealed parents heterozygous for the mutation and unaffected sib homozygous for wild type. SIFT and PolyPhen analyses predicted the mutation to be "damaging" (score-0.02) and "probably damaging" (score-0.994), respectively. SLC19A2, the high-affinity thiamine transporter, is the only gene known to be associated with TRMA. Here we describe for the first time Leber's congenital amaurosis as the retinal phenotype and also report a novel point mutation in the SLC19A2 gene that co-segregated with the disease in a TRMA patient.

  6. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    DEFF Research Database (Denmark)

    Astuti, Galuh D N; Bertelsen, Mette; Preising, Markus N

    2016-01-01

    Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D. In addition, sequenc...... therapies.European Journal of Human Genetics advance online publication, 2 December 2015; doi:10.1038/ejhg.2015.241....

  7. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

    Science.gov (United States)

    Kumaran, Neruban; Moore, Anthony T; Weleber, Richard G; Michaelides, Michel

    2017-01-01

    Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70–80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. PMID:28689169

  8. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

    Science.gov (United States)

    Kumaran, Neruban; Moore, Anthony T; Weleber, Richard G; Michaelides, Michel

    2017-09-01

    Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are both genetically and phenotypically heterogeneous, and characterised clinically by severe congenital/early infancy visual loss, nystagmus, amaurotic pupils and markedly reduced/absent full-field electroretinograms. The vast genetic heterogeneity of inherited retinal disease has been established over the last 10 - 20 years, with disease-causing variants identified in 25 genes to date associated with LCA/EOSRD, accounting for 70-80% of cases, with thereby more genes yet to be identified. There is now far greater understanding of the structural and functional associations seen in the various LCA/EOSRD genotypes. Subsequent development/characterisation of LCA/EOSRD animal models has shed light on the underlying pathogenesis and allowed the demonstration of successful rescue with gene replacement therapy and pharmacological intervention in multiple models. These advancements have culminated in more than 12 completed, ongoing and anticipated phase I/II and phase III gene therapy and pharmacological human clinical trials. This review describes the clinical and genetic characteristics of LCA/EOSRD and the differential diagnoses to be considered. We discuss in further detail the diagnostic clinical features, pathophysiology, animal models and human treatment studies and trials, in the more common genetic subtypes and/or those closest to intervention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  9. Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL.

    Science.gov (United States)

    Nichols, Lorenzo L; Alur, Ramakrishna P; Boobalan, Elangovan; Sergeev, Yuri V; Caruso, Rafael C; Stone, Edwin M; Swaroop, Anand; Johnson, Mary A; Brooks, Brian P

    2010-06-01

    Leber congenital amaurosis (LCA) is a congenital retinal dystrophy characterized by severe visual loss in infancy and nystagmus. Although most often inherited in an autosomal recessive fashion, rare individuals with mutations in the cone-rod homeobox gene, CRX, have dominant disease. CRX is critical for photoreceptor development and acts synergistically with the leucine-zipper transcription factor, NRL. We report on the phenotype of two individuals with LCA due to novel, de novo CRX mutations, c.G264T(p.K74N) and c.413delT(p.I138fs48), that reduce transactivation in vitro to 10% and 30% of control values, respectively. Whereas the c.413delT(p.I138fs48) mutant allows co-expressed NRL to transactivate independently at its normal, baseline level, the c.G264T(p.K74N) mutant reduces co-expressed NRL transactivation and reduces steady state levels of both proteins. Although both mutant proteins predominantly localize normally to the nucleus, they also both show variable cytoplasmic localization. These observations suggest that some CRX-mediated LCA may result from effects beyond haploinsufficiency, such as the mutant protein interefering with other transcription factors' function. Such patients would therefore not likely benefit from a simple, gene-replacement strategy for their disease.

  10. Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.

    Science.gov (United States)

    Cideciyan, Artur V

    2010-09-01

    Leber congenital amaurosis (LCA) is a rare hereditary retinal degeneration caused by mutations in more than a dozen genes. RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid isomerase enzyme essential for the production of chromophore which forms the visual pigment in rod and cone photoreceptors of the retina. Congenital loss of chromophore production due to RPE65-deficiency together with progressive photoreceptor degeneration cause severe and progressive loss of vision. RPE65-associated LCA recently gained recognition outside of specialty ophthalmic circles due to early success achieved by three clinical trials of gene therapy using recombinant adeno-associated virus (AAV) vectors. The trials were built on multitude of basic, pre-clinical and clinical research defining the pathophysiology of the disease in human subjects and animal models, and demonstrating the proof-of-concept of gene (augmentation) therapy. Substantial gains in visual function of clinical trial participants provided evidence for physiologically relevant biological activity resulting from a newly introduced gene. This article reviews the current knowledge on retinal degeneration and visual dysfunction in animal models and human patients with RPE65 disease, and examines the consequences of gene therapy in terms of improvement of vision reported. Copyright 2010 Elsevier Ltd. All rights reserved.

  11. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients.

    Science.gov (United States)

    Melillo, Paolo; Pecchia, Leandro; Testa, Francesco; Rossi, Settimio; Bennett, Jean; Simonelli, Francesca

    2012-07-19

    Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA). In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA) involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration. Pupillary light reflexes (PLR) were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate), and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison. The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye) compared to the left (untreated) eye at both follow-up time-points, showing stability of the improved PLR in the treated eye. Our method

  12. Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

    Directory of Open Access Journals (Sweden)

    Melillo Paolo

    2012-07-01

    Full Text Available Abstract Background Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information about the visual reflex pathway and has been adopted to quantify visual impairment in patients with Leber Congenital Amaurosis (LCA. In this paper, we describe detailed methods of pupillometric analysis and a case study on three Italian patients affected by Leber Congenital Amaurosis (LCA involved in a gene therapy clinical trial at two follow-up time-points: 1 year and 3 years after therapy administration. Methods Pupillary light reflexes (PLR were measured in patients who had received a unilateral subretinal injection in a clinical gene therapy trial. Pupil images were recorded simultaneously in both eyes with a commercial pupillometer and related software. A program was generated with MATLAB software in order to enable enhanced pupil detection with revision of the acquired images (correcting aberrations due to the inability of these severely visually impaired patients to fixate, and computation of the pupillometric parameters for each stimulus. Pupil detection was performed through Hough Transform and a non-parametric paired statistical test was adopted for comparison. Results The developed program provided correct pupil detection also for frames in which the pupil is not totally visible. Moreover, it provided an automatic computation of the pupillometric parameters for each stimulus and enabled semi-automatic revision of computerized detection, eliminating the need for the user to manually check frame by frame. With reference to the case study, the amplitude of pupillary constriction and the constriction velocity were increased in the right (treated eye compared to the left (untreated eye at both follow-up time-points, showing stability of

  13. CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability

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    Minegishi, Yuriko; Sheng, XunLun; Yoshitake, Kazutoshi; Sergeev, Yuri; Iejima, Daisuke; Shibagaki, Yoshio; Monma, Norikazu; Ikeo, Kazuho; Furuno, Masaaki; Zhuang, Wenjun; Liu, Yani; Rong, Weining; Hattori, Seisuke; Iwata, Takeshi

    2016-01-01

    Leber congenital amaurosis (LCA) is a hereditary early-onset retinal dystrophy that is accompanied by severe macular degeneration. In this study, novel compound heterozygous mutations were identified as LCA-causative in chaperonin-containing TCP-1, subunit 2 (CCT2), a gene that encodes the molecular chaperone protein, CCTβ. The zebrafish mutants of CCTβ are known to exhibit the eye phenotype while its mutation and association with human disease have been unknown. The CCT proteins (CCT α-θ) forms ring complex for its chaperon function. The LCA mutants of CCTβ, T400P and R516H, are biochemically instable and the affinity for the adjacent subunit, CCTγ, was affected distinctly in both mutants. The patient-derived induced pluripotent stem cells (iPSCs), carrying these CCTβ mutants, were less proliferative than the control iPSCs. Decreased proliferation under Cct2 knockdown in 661W cells was significantly rescued by wild-type CCTβ expression. However, the expression of T400P and R516H didn’t exhibit the significant effect. In mouse retina, both CCTβ and CCTγ are expressed in the retinal ganglion cells and connecting cilium of photoreceptor cells. The Cct2 knockdown decreased its major client protein, transducing β1 (Gβ1). Here we report the novel LCA mutations in CCTβ and the impact of chaperon disability by these mutations in cellular biology. PMID:27645772

  14. Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.

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    Zheng, Qinxiang; Ren, Yueping; Tzekov, Radouil; Zhang, Yuanping; Chen, Bo; Hou, Jiangping; Zhao, Chunhui; Zhu, Jiali; Zhang, Ying; Dai, Xufeng; Ma, Shan; Li, Jia; Pang, Jijing; Qu, Jia; Li, Wensheng

    2012-01-01

    Leber congenital amaurosis (LCA) is one of the most severe forms of inherited retinal degeneration and can be caused by mutations in at least 15 different genes. To clarify the proteomic differences in LCA eyes, a cohort of retinal degeneration 12 (rd12) mice, an LCA2 model caused by a mutation in the RPE65 gene, were injected subretinally with an AAV vector (scAAV5-smCBA-hRPE65) in one eye, while the contralateral eye served as a control. Proteomics were compared between untreated rd12 and normal control retinas on P14 and P21, and among treated and untreated rd12 retinas and control retinas on P42. Gene therapy in rd12 mice restored retinal function in treated eyes, which was demonstrated by electroretinography (ERG). Proteomic analysis successfully identified 39 proteins expressed differently among the 3 groups. The expression of 3 proteins involved in regulation of apoptosis and neuroptotection (alpha A crystallin, heat shock protein 70 and peroxiredoxin 6) were investigated further. Immunofluorescence, Western blot and real-time PCR confirmed the quantitative changes in their expression. Furthermore, cell culture studies suggested that peroxiredoxin 6 could act in an antioxidant role in rd12 mice. Our findings support the feasibility of gene therapy in LCA2 patients and support a role for alpha A crystallin, heat shock protein 70 and peroxiredoxin 6 in the pathogenetic mechanisms involved in LCA2 disease process.

  15. Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

    Science.gov (United States)

    Jacobson, Samuel G; Cideciyan, Artur V; Aleman, Tomas S; Sumaroka, Alexander; Schwartz, Sharon B; Roman, Alejandro J; Stone, Edwin M

    2007-05-01

    To determine the treatment potential in Leber congenital amaurosis (LCA) resulting from an RPGRIP1 (retinitis pigmentosa GTPase regulating-interacting protein 1) mutation, a form of LCA with recent gene therapy success in an animal model. Case report of a rare genetic eye disease investigated for intervention potential. A 19-year-old man with LCA. We studied the retinal structure and function in an LCA patient with a novel homozygous Val1211Glu mutation in the RPGRIP1 gene using optical coherence tomography and colocalized dark-adapted thresholds. Optical coherence tomography results. Central retinal laminar architecture was preserved, and there was a measurable outer nuclear layer. The retained retinal structure corresponded to the region of visual sensitivity. With increasing eccentricity, there was no measurable visual function, and retinal laminar disorganization suggested a remodeling process. The RPGRIP1-LCA patient has treatment potential for a gene replacement strategy if targeted to central, but not pericentral or peripheral, retina. The results differ from similarly studied RPE65-LCA and CRB1-LCA patients. Preclinical progress toward therapy in LCA patients warrants detailed structure-function studies in humans to determine feasibility and candidacy for clinical trials.

  16. Clinical gene therapy for the treatment of RPE65-associated Leber congenital amaurosis.

    Science.gov (United States)

    Stein, Linda; Roy, Kamolika; Lei, Lei; Kaushal, Shalesh

    2011-03-01

    The positive results of pioneering clinical trials using gene therapy as treatment for patients with Leber congenital amaurosis (LCA) have ushered in a new era of molecular retinal therapeutics for LCA, other blinding retinal disorders and gene therapy applications. This review describes the role of retinal pigment epithelium-specific 65 kDa protein (RPE65) in the visual cycle and how RPE65 deficiency results in LCA; the extensive preclinical studies with recombinant adeno-associated virus (rAAV)-RPE65 gene vectors; and the human rAAV-RPE65 and related gene therapy clinical trials and studies. The literature search included a review of primary sources (e.g., journal articles) that reported study data results and key secondary sources such as meta-reviews available through PubMed, as well as reviews of clinical trial descriptions and results as reported in clinicaltrials.gov, conference publications and news releases. LCA-RPE65 gene therapy is an example of successful, innovative, translational research. Further research is needed regarding how retinal gene therapy can be improved.

  17. Differential proteomics and functional research following gene therapy in a mouse model of Leber congenital amaurosis.

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    Qinxiang Zheng

    Full Text Available Leber congenital amaurosis (LCA is one of the most severe forms of inherited retinal degeneration and can be caused by mutations in at least 15 different genes. To clarify the proteomic differences in LCA eyes, a cohort of retinal degeneration 12 (rd12 mice, an LCA2 model caused by a mutation in the RPE65 gene, were injected subretinally with an AAV vector (scAAV5-smCBA-hRPE65 in one eye, while the contralateral eye served as a control. Proteomics were compared between untreated rd12 and normal control retinas on P14 and P21, and among treated and untreated rd12 retinas and control retinas on P42. Gene therapy in rd12 mice restored retinal function in treated eyes, which was demonstrated by electroretinography (ERG. Proteomic analysis successfully identified 39 proteins expressed differently among the 3 groups. The expression of 3 proteins involved in regulation of apoptosis and neuroptotection (alpha A crystallin, heat shock protein 70 and peroxiredoxin 6 were investigated further. Immunofluorescence, Western blot and real-time PCR confirmed the quantitative changes in their expression. Furthermore, cell culture studies suggested that peroxiredoxin 6 could act in an antioxidant role in rd12 mice. Our findings support the feasibility of gene therapy in LCA2 patients and support a role for alpha A crystallin, heat shock protein 70 and peroxiredoxin 6 in the pathogenetic mechanisms involved in LCA2 disease process.

  18. Variations in NPHP5 in Patients With Nonsyndromic Leber Congenital Amaurosis and Senior-Loken Syndrome

    Science.gov (United States)

    Stone, Edwin M.; Cideciyan, Artur V.; Aleman, Tomas S.; Scheetz, Todd E.; Sumaroka, Alexander; Ehlinger, Mary A.; Schwartz, Sharon B.; Fishman, Gerald A.; Traboulsi, Elias I.; Lam, Byron L.; Fulton, Anne B.; Mullins, Robert F.; Sheffield, Val C.; Jacobson, Samuel G.

    2014-01-01

    Objective To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease. Methods DNA samples from 276 individuals with non-syndromic LCA were screened for variations in the NPHP5 gene. Each had been previously screened for mutations in 8 known LCA genes without identifying a disease-causing genotype. Results Nine of the 276 LCA probands (3.2%) harbored 2 plausible disease-causing mutations (7 different alleles) in NPHP5. Four of these have been previously reported in patients with Senior-Loken syndrome (F141del, R461X, H506del, and R489X) and 3 are novel (A111del, E346X, and R455X). All 9 patients had severe visual loss from early childhood but none had overt renal disease in the first decade of life. Two patients were diagnosed with nephronophthisis in the second decade. Retinal imaging studies showed retained photoreceptor nuclei and retinal pigment epithelium integrity mainly in the cone-rich central retina, a phenotype with strong similarities to that of NPHP6 disease. Conclusions Mutations in NPHP5 can cause LCA without early-onset renal disease. Abnormalities observed in the photoreceptor outer segments (a cilial structure) may explain the severe visual loss in NPHP5-associated LCA. Clinical Relevance The persistence of central photoreceptor nuclei despite severe visual loss in NPHP5 disease is encouraging for future therapeutic interventions. PMID:21220633

  19. Plasticity of the human visual system after retinal gene therapy in patients with Leber's congenital amaurosis.

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    Ashtari, Manzar; Zhang, Hui; Cook, Philip A; Cyckowski, Laura L; Shindler, Kenneth S; Marshall, Kathleen A; Aravand, Puya; Vossough, Arastoo; Gee, James C; Maguire, Albert M; Baker, Chris I; Bennett, Jean

    2015-07-15

    Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies. We evaluated human brain plasticity in a group of patients with Leber's congenital amaurosis (LCA), who regained vision through gene therapy. Using non-invasive multimodal neuroimaging methods, we demonstrated that reversing blindness with gene therapy promoted long-term structural plasticity in the visual pathways emanating from the treated retina of LCA patients. The data revealed improvements and normalization along the visual fibers corresponding to the site of retinal injection of the gene therapy vector carrying the therapeutic gene in the treated eye compared to the visual pathway for the untreated eye of LCA patients. After gene therapy, the primary visual pathways (for example, geniculostriate fibers) in the treated retina were similar to those of sighted control subjects, whereas the primary visual pathways of the untreated retina continued to deteriorate. Our results suggest that visual experience, enhanced by gene therapy, may be responsible for the reorganization and maturation of synaptic connectivity in the visual pathways of the treated eye in LCA patients. The interactions between the eye and the brain enabled improved and sustained long-term visual function in patients with LCA after gene therapy.

  20. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.

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    Batten, Matthew L; Imanishi, Yoshikazu; Tu, Daniel C; Doan, Thuy; Zhu, Li; Pang, Jijing; Glushakova, Lyudmila; Moise, Alexander R; Baehr, Wolfgang; Van Gelder, Russell N; Hauswirth, William W; Rieke, Fred; Palczewski, Krzysztof

    2005-11-01

    Leber congenital amaurosis (LCA), a heterogeneous early-onset retinal dystrophy, accounts for approximately 15% of inherited congenital blindness. One cause of LCA is loss of the enzyme lecithin:retinol acyl transferase (LRAT), which is required for regeneration of the visual photopigment in the retina. An animal model of LCA, the Lrat-/- mouse, recapitulates clinical features of the human disease. Here, we report that two interventions--intraocular gene therapy and oral pharmacologic treatment with novel retinoid compounds--each restore retinal function to Lrat-/- mice. Gene therapy using intraocular injection of recombinant adeno-associated virus carrying the Lrat gene successfully restored electroretinographic responses to approximately 50% of wild-type levels (p gene therapy and pharmacologic bypass provide highly effective and complementary means for restoring retinal function in this animal model of human hereditary blindness. These complementary methods offer hope of developing treatment to restore vision in humans with certain forms of hereditary congenital blindness.

  1. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

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    Cideciyan, Artur V; Jacobson, Samuel G; Beltran, William A; Sumaroka, Alexander; Swider, Malgorzata; Iwabe, Simone; Roman, Alejandro J; Olivares, Melani B; Schwartz, Sharon B; Komáromy, András M; Hauswirth, William W; Aguirre, Gustavo D

    2013-02-05

    Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model. In untreated RPE65-LCA patients, there was dysfunction and degeneration of photoreceptors, even at the earliest ages. Examined serially over years, the outer photoreceptor nuclear layer showed progressive thinning. Treated RPE65-LCA showed substantial visual improvement in the short term and no detectable decline from this new level over the long term. However, retinal degeneration continued to progress unabated. In RPE65-mutant dogs, the first one-quarter of their lifespan showed only dysfunction, and there was normal outer photoreceptor nuclear layer thickness retina-wide. Dogs treated during the earlier dysfunction-only stage showed improved visual function and dramatic protection of treated photoreceptors from degeneration when measured 5-11 y later. Dogs treated later during the combined dysfunction and degeneration stage also showed visual function improvement, but photoreceptor loss continued unabated, the same as in human RPE65-LCA. The results suggest that, in RPE65 disease treatment, protection from visual function deterioration cannot be assumed to imply protection from degeneration. The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term.

  2. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations.

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    Roman, Alejandro J; Cideciyan, Artur V; Schwartz, Sharon B; Olivares, Melani B; Heon, Elise; Jacobson, Samuel G

    2013-02-15

    To determine the intervisit variability of kinetic visual fields and visual acuity in patients with Leber congenital amaurosis (LCA) caused by mutations in the RPE65 (Retinal Pigment Epithelium-specific protein 65kDa) gene. RPE65-LCA patients (n = 20; ages 11-40 years) were studied on at least two visits separated by fewer than 120 days using Goldmann visual field (GVF) and ETDRS visual acuity (VA) in a retrospective review. GVFs were quantified by computing the spherical coordinates of their vertices and calculating the solid angle subtended, and reported in normalized solid-angle units (nsu) as a percentage of average normal field extent. Repeatability coefficients were calculated using 95% confidence intervals on log(10)-converted variables. Visual field extents in RPE65-LCA spanned a wide range from 4 to 95 nsu. The repeatability coefficient was 0.248 (log(10)nsu), suggesting cutoffs for significant change (in nsu) of +77% for improvement and -44% for worsening. VA in RPE65-LCA ranged from logMAR = 0.14 to 1.96 (20/40 to 20/1250). The repeatability coefficient was 0.170 (logMAR) (±8.5 ETDRS letters). Comparisons with published studies of ungenotyped retinitis pigmentosa showed that the RPE65-LCA patients had higher variability in kinetic field extent. VA variability in RPE65-LCA fell within reported results for retinitis pigmentosa. Variability data for GVF and VA are provided to permit interpretation of the significance of increases and decreases of these functional outcomes in ongoing and planned clinical trials of therapy for LCA caused by RPE65 mutations.

  3. Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

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    Pawlyk, Basil S; Smith, Alexander J; Buch, Prateek K; Adamian, Michael; Hong, Dong-Hyun; Sandberg, Michael A; Ali, Robin R; Li, Tiansen

    2005-09-01

    Retinitis pigmentosa GTPase regulator (RPGR) is a photoreceptor protein anchored in the connecting cilia by an RPGR-interacting protein (RPGRIP). Loss of RPGRIP causes Leber congenital amaurosis (LCA), a severe form of photoreceptor degeneration. The current study was an investigation of whether somatic gene replacement could rescue degenerating photoreceptors in a murine model of LCA due to a defect in RPGRIP. An RPGRIP expression cassette, driven by a mouse opsin promoter, was packaged into recombinant adeno-associated virus (AAV). The AAV vector was delivered into the right eyes of RPGRIP(-/-) mice by a single subretinal injection into the superior hemisphere. The left eyes received a saline injection as a control. Full-field electroretinograms (ERGs) were recorded from both eyes at 2, 3, 4, and 5 months after injection. After the final follow-up, retinas were analyzed by immunostaining or by light and electron microscopy. Delivery of the AAV vector led to RPGRIP expression and restoration of normal RPGR localization at the connecting cilia. Photoreceptor preservation was evident by a thicker cell layer and well-developed outer segments in the treated eyes. Rescue was more pronounced in the superior hemisphere coincident with the site of delivery. Functional preservation was demonstrated by ERG. AAV-mediated RPGRIP gene replacement preserves photoreceptor structure and function in a mouse model of LCA, despite ongoing cell loss at the time of intervention. These results indicate that gene replacement therapy may be effective in patients with LCA due to a defect in RPGRIP and suggest that further preclinical development of gene therapy for this disorder is warranted.

  4. CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10.

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    Ruan, Guo-Xiang; Barry, Elizabeth; Yu, Dan; Lukason, Michael; Cheng, Seng H; Scaria, Abraham

    2017-02-01

    As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation found in patients with LCA10 is a deep intronic mutation in CEP290 that generates a cryptic splice donor site. The large size of the CEP290 gene prevents its use in adeno-associated virus (AAV)-mediated gene augmentation therapy. Here, we show that targeted genomic deletion using the clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system represents a promising therapeutic approach for the treatment of patients with LCA10 bearing the CEP290 splice mutation. We generated a cellular model of LCA10 by introducing the CEP290 splice mutation into 293FT cells and we showed that guide RNA pairs coupled with SpCas9 were highly efficient at removing the intronic splice mutation and restoring the expression of wild-type CEP290. In addition, we demonstrated that a dual AAV system could effectively delete an intronic fragment of the Cep290 gene in the mouse retina. To minimize the immune response to prolonged expression of SpCas9, we developed a self-limiting CRISPR/Cas9 system that minimizes the duration of SpCas9 expression. These results support further studies to determine the therapeutic potential of CRISPR/Cas9-based strategies for the treatment of patients with LCA10. Copyright © 2017 The American Society of Gene and Cell Therapy. Published by Elsevier Inc. All rights reserved.

  5. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

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    Sundaramurthy Srilekha

    Full Text Available Leber congenital amaurosis (LCA and retinitis pigmentosa (RP are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited by all the Mendelian pattern of inheritance and both are leading causes of visual impairment in children and young adults. Homozygosity mapping is an efficient strategy for mapping both known and novel disease loci in recessive conditions, especially in a consanguineous mating, exploiting the fact that the regions adjacent to the disease locus will also be homozygous by descent in such inbred children. Here we have studied eleven consanguineous LCA and one autosomal recessive RP (arRP south Indian families to know the prevalence of mutations in known genes and also to know the involvement of novel loci, if any. Complete ophthalmic examination was done for all the affected individuals including electroretinogram, fundus photograph, fundus autofluorescence, and optical coherence tomography. Homozygosity mapping using Affymetrix 250K HMA GeneChip on eleven LCA families followed by screening of candidate gene(s in the homozygous block identified mutations in ten families; AIPL1 - 3 families, RPE65- 2 families, GUCY2D, CRB1, RDH12, IQCB1 and SPATA7 in one family each, respectively. Six of the ten (60% mutations identified are novel. Homozygosity mapping using Affymetrix 10K HMA GeneChip on the arRP family identified a novel nonsense mutation in MERTK. The mutations segregated within the family and was absent in 200 control chromosomes screened. In one of the eleven LCA families, the causative gene/mutation was not identified but many homozygous blocks were noted indicating that a possible novel locus/gene might be involved. The genotype and phenotype features, especially the fundus changes for AIPL1, RPE65, CRB1, RDH12 genes were as reported earlier.

  6. AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

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    Xavier Gerard

    2012-01-01

    Full Text Available Leber congenital amaurosis (LCA is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10% is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G. It creates a strong splice donor site that leads to insertion of a cryptic exon encoding a premature stop codon. In the present study, we show that the use of antisense oligonucleotides (AONs allow an efficient skipping of the mutant cryptic exon and the restoration of ciliation in fibroblasts of affected patients. These data support the feasibility of an AON-mediated exon skipping strategy to correct the aberrant splicing.

  7. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.

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    Simonelli, Francesca; Ziviello, Carmela; Testa, Francesco; Rossi, Settimio; Fazzi, Elisa; Bianchi, Paolo Emilio; Fossarello, Maurizio; Signorini, Sabrina; Bertone, Chiara; Galantuomo, Silvana; Brancati, Francesco; Valente, Enza Maria; Ciccodicola, Alfredo; Rinaldi, Ernesto; Auricchio, Alberto; Banfi, Sandro

    2007-09-01

    To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis. DNA samples from 95 patients with LCA were analyzed by using a microarray chip containing disease-associated sequence variants in eight LCA genes. In addition, all patients in whom no mutations were identified by microarray were subjected to sequence analysis of the CEP290 gene. Patients with mutations identified underwent a detailed ophthalmic evaluation. Disease-causing mutations were identified in 28% of patients, and twelve novel variants were identified. Mutations occurred more frequently in the RPE65 (8.4%), CRB1 (7.4%), and GUCY2D (5.2%) genes. Mutations in CEP290 were found in only 4.2% of the patients analyzed. Clinical assessment of patients carrying RPE65 or CRB1 mutations revealed the presence of retained visual capabilities in the first decade of life. RPE65 mutations were almost always associated with normal macular thickness, as assessed by optical coherence tomography (OCT), whereas CRB1 mutations were associated with reduced retinal thickness and a coarsely laminated retina. Fundus autofluorescence was mostly observed in patients with RPE65 and GUCY2D mutations and was not elicitable in patients carrying CRB1. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. This finding suggests that the genetic epidemiology of LCA in Italy is different from that reported in the United States and in northern European countries. Autofluorescence in patients with RPE65 mutations was more frequently associated with preserved retinal thickness, which suggests that these mutations are not associated with progression of retinal degeneration. Therefore, normal retinal thickness (identified with OCT) and fundus autofluorescence may be the means with which to identify patients with LCA who carry RPE65

  8. Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration.

    Directory of Open Access Journals (Sweden)

    Séverine Hamann

    Full Text Available Pathogenesis in the Rpe65(-/- mouse model of Leber's congenital amaurosis (LCA is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages. Retinal degeneration in Rpe65(-/- mice, showing a null mutation in the gene encoding the retinal pigment epithelium 65-kDa protein (Rpe65, was previously reported to depend on continuous activation of a residual transduction cascade by unliganded opsin. However, the mechanisms of apoptotic signals triggered by abnormal phototransduction remain elusive. We previously reported that activation of a Bcl-2-dependent pathway was associated with apoptosis of rod photoreceptors in Rpe65(-/- mice during the course of the disease. In this study we first assessed whether activation of Bcl-2-mediated apoptotic pathway was dependent on constitutive activation of the visual cascade through opsin apoprotein. We then challenged the direct role of pro-apoptotic Bax protein in triggering apoptosis of rod and cone photoreceptors.Quantitative PCR analysis showed that increased expression of pro-apoptotic Bax and decreased level of anti-apoptotic Bcl-2 were restored in Rpe65(-/-/Gnat1(-/- mice lacking the Gnat1 gene encoding rod transducin. Moreover, photoreceptor apoptosis was prevented as assessed by TUNEL assay. These data indicate that abnormal activity of opsin apoprotein induces retinal cell apoptosis through the Bcl-2-mediated pathway. Following immunohistological and real-time PCR analyses, we further observed that decreased expression of rod genes in Rpe65-deficient mice was rescued in Rpe65(-/-/Bax(-/- mice. Histological and TUNEL studies confirmed that rod cell demise and apoptosis in diseased Rpe65(-/- mice were dependent on Bax-induced pathway. Surprisingly, early loss of cones was not prevented in Rpe65(-/-/Bax(-/- mice, indicating that pro-apoptotic Bax was not involved in the pathogenesis of cone cell death in Rpe65-deficient mice

  9. Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

    Science.gov (United States)

    Stone, Edwin M

    2007-12-01

    To critically evaluate our experience in molecular testing of Leber congenital amaurosis (LCA) and to use this information to devise a general approach to heterogeneous recessive disorders. Careful clinical and molecular characterization of large cohorts of patients affected with inherited eye diseases will be an essential step in the development of effective therapy for these diseases, especially when the therapy involves gene replacement. A molecular genetic case-control study. Six hundred forty-two unrelated individuals with the clinical diagnosis of LCA and 200 unrelated control individuals were screened for disease-causing sequence variations in eight genes using various combinations of single-strand conformational polymorphism analysis (SSCP), automated DNA sequencing, multiplex allele-specific ligation analysis (SNPlex), and high-density solid-phase single nucleotide polymorphism genotyping. Four hundred forty instances of 189 different disease-causing sequence variations were observed in this study, 98 of which have not been previously reported. One hundred forty-six of the 189 variations (77%) were observed in only a single individual. The observed variations were not evenly distributed among the LCA patients or among the eight genes. Empirical analysis of this uneven distribution was used to devise a multi-platform mutation detection strategy that is four times more efficient than a more conventional strategy of completely sequencing all of the coding regions of all LCA genes in all subjects. Hardy-Weinberg analysis of the observed mutations suggests that these eight genes are collectively responsible for about 70% of the cases of LCA in North America. The carrier frequency of the most common LCA allele (an intron 26 variation in CEP290) was found to be 2/3,248, which suggests that the overall prevalence of LCA in this population is about 1/81,000. An allele-specific ligation assay (SNPlex) was designed to detect 68 of the most common LCA-causing alleles

  10. Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis.

    Science.gov (United States)

    Li, Songhua; Samardzija, Marijana; Yang, Zhihui; Grimm, Christian; Jin, Minghao

    2016-05-25

    RPE65, an abundant membrane-associate protein in the retinal pigment epithelium (RPE), is a key retinoid isomerase of the visual cycle necessary for generating 11-cis-retinal that functions not only as a molecular switch for activating cone and rod visual pigments in response to light stimulation, but also as a chaperone for normal trafficking of cone opsins to the outer segments. Many mutations in RPE65 are associated with Leber congenital amaurosis (LCA). A R91W substitution, the most frequent LCA-associated mutation, results in a severe decrease in protein level and enzymatic activity of RPE65, causing cone opsin mislocalization and early cone degeneration in the mutation knock-in mouse model of LCA. Here we show that R91W RPE65 undergoes ubiquitination-dependent proteasomal degradation in the knock-in mouse RPE due to misfolding. The 26S proteasome non-ATPase regulatory subunit 13 mediated degradation specifically of misfolded R91W RPE65. The mutation disrupted membrane-association and colocalization of RPE65 with lecithin:retinol acyltransferase (LRAT) that provides the hydrophobic substrate for RPE65. Systemic administration of sodium 4-phenylbutyrate (PBA), a chemical chaperone, increased protein stability, enzymatic activity, membrane-association, and colocalization of R91W RPE65 with LRAT. This rescue effect increased synthesis of 11-cis-retinal and 9-cis-retinal, a functional iso-chromophore of the visual pigments, led to alleviation of S-opsin mislocalization and cone degeneration in the knock-in mice. Importantly, PBA-treatment also improved cone-mediated vision in the mutant mice. These results indicate that PBA, a U.S. Food and Drug Administration-approved safe oral medication, may provide a noninvasive therapeutic intervention that delays daylight vision loss in patients with RPE65 mutations. LCA is a severe early onset retinal dystrophy. Recent clinical trials of gene therapy have implicated the need of an alternative or combination therapy to

  11. Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

    OpenAIRE

    Mackay, Donna S.; Borman, Arundhati Dev; Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen

    2013-01-01

    To investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early onset rod-cone dystrophy (EORD) and autosomal recessive retinitis pigmentosa (RP), to delineate the ocular phenotypes, and to provide an overview of all published LCA5 variants in an online database._Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and fundus autoflu...

  12. Leber先天黑矇的临床研究%Clinical study on Leber congenital amaurosis

    Institute of Scientific and Technical Information of China (English)

    睢瑞芳; 赵潺; 姜茹欣; 周崎; 于伟泓; 董方田

    2009-01-01

    Objectives To observe the clinical characteristics of Leber congenital amaurosis (LCA)and analyze the features to differentiate LCA from other similar disorders.Methods Prospective study of 15LCA patients which include 10 males and 5 females,aged from 2 to 31 years with the mean age 13.6 years.Medical history,family history,perinatal conditions,as well as complete ocular evaluations were well documented.Among the subjects,12 patients underwent optometry check,10 patients underwent ERG and 8 patients had OCT testing.Results All of the patients had nystagmus and sluggish pupillary reflex.The visual acuity distributed from light perception to 0.1.Fivepatients (33.3%) were presented with photophobia,while 7 patients (46.7%) had nyctalopia.Among 12 cases underwent refraction examination,6 patients (50% ) had spherical equivalent of≥ + 5D;1 patient(8.3 % )had spherical equivalent of≥+5D;2patients (16.7%) had bilateral mild to moderate hyperopia;1 patient (8.3%) had one emmertropic eye and one mild myopic eye;2 patients (16.7%) had moderate to high myopia.Eight patients (53.3%) had enophthalmus,4 patients (26.7%) had oculo-digital sign.All of the 10 patients underwent ERG showed extinguished waveform.Under OCT assesement,7 patients had decreased fovea thickness;1 patient had increased fovea thickness,complicated by epiretinal membrane;mild abnormality of microstrueture of the retina with diminished and disrupted IS/OS hyperreflectivity were found in 2 cases;while more pronounced disarrangement of the retinal layers were found in 6 cases,inner layers were better reserved in all patients.Conclusions Severe visual impairment or blindness,nystagmus,pupillary reflex,extinguished ERG and hyperopia are main clinical characteristics of LCA.%目的 观察中国Leber先天黑嚎(LCA)患者的临床特征.方法 前瞻性临床研究,分析15例LCA患者的临床资料.其中,男性10例,女性5例,年龄2~31岁,平均13.6岁.所有患者就诊时详细记录病史、家族

  13. Pharmacological and rAAV gene therapy rescue of visual functions in a blind mouse model of Leber congenital amaurosis.

    Directory of Open Access Journals (Sweden)

    Matthew L Batten

    2005-11-01

    Full Text Available BACKGROUND: Leber congenital amaurosis (LCA, a heterogeneous early-onset retinal dystrophy, accounts for approximately 15% of inherited congenital blindness. One cause of LCA is loss of the enzyme lecithin:retinol acyl transferase (LRAT, which is required for regeneration of the visual photopigment in the retina. METHODS AND FINDINGS: An animal model of LCA, the Lrat-/- mouse, recapitulates clinical features of the human disease. Here, we report that two interventions--intraocular gene therapy and oral pharmacologic treatment with novel retinoid compounds--each restore retinal function to Lrat-/- mice. Gene therapy using intraocular injection of recombinant adeno-associated virus carrying the Lrat gene successfully restored electroretinographic responses to approximately 50% of wild-type levels (p < 0.05 versus wild-type and knockout controls, and pupillary light responses (PLRs of Lrat-/- mice increased approximately 2.5 log units (p < 0.05. Pharmacological intervention with orally administered pro-drugs 9-cis-retinyl acetate and 9-cis-retinyl succinate (which chemically bypass the LRAT-catalyzed step in chromophore regeneration also caused long-lasting restoration of retinal function in LRAT-deficient mice and increased ERG response from approximately 5% of wild-type levels in Lrat-/- mice to approximately 50% of wild-type levels in treated Lrat-/- mice (p < 0.05 versus wild-type and knockout controls. The interventions produced markedly increased levels of visual pigment from undetectable levels to 600 pmoles per eye in retinoid treated mice, and approximately 1,000-fold improvements in PLR and electroretinogram sensitivity. The techniques were complementary when combined. CONCLUSION: Intraocular gene therapy and pharmacologic bypass provide highly effective and complementary means for restoring retinal function in this animal model of human hereditary blindness. These complementary methods offer hope of developing treatment to restore vision

  14. Antisense Oligonucleotide (AON-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

    Directory of Open Access Journals (Sweden)

    Rob WJ Collin

    2012-01-01

    Full Text Available Leber congenital amaurosis (LCA is the most severe form of inherited retinal degeneration, with an onset in the first year of life. The most frequent mutation that causes LCA, present in at least 10% of individuals with LCA from North-American and Northern-European descent, is an intronic mutation in CEP290 that results in the inclusion of an aberrant exon in the CEP290 mRNA. Here, we describe a genetic therapy approach that is based on antisense oligonucleotides (AONs, small RNA molecules that are able to redirect normal splicing of aberrantly processed pre-mRNA. Immortalized lymphoblastoid cells of individuals with LCA homozygously carrying the intronic CEP290 mutation were transfected with several AONs that target the aberrant exon that is incorporated in the mutant CEP290 mRNA. Subsequent RNA isolation and reverse transcription-PCR analysis revealed that a number of AONs were capable of almost fully redirecting normal CEP290 splicing, in a dose-dependent manner. Other AONs however, displayed no effect on CEP290 splicing at all, indicating that the rescue of aberrant CEP290 splicing shows a high degree of sequence specificity. Together, our data show that AON-based therapy is a promising therapeutic approach for CEP290-associated LCA that warrants future research in animal models to develop a cure for this blinding disease.

  15. Insights into the role of RD3 in guanylate cyclase trafficking, photoreceptor degeneration and Leber Congenital Amaurosis

    Directory of Open Access Journals (Sweden)

    Robert S. Molday

    2014-05-01

    Full Text Available RD3 is an evolutionarily conserved 23 kDa protein expressed in rod and cone photoreceptor cells. Mutations in the gene encoding RD3 resulting in unstable non-functional C-terminal truncated proteins are responsible for early onset photoreceptor degeneration in Leber Congenital Amaurosis 12 (LCA12 patients, the rd3 mice, and the rcd2 collies. Recent studies have shown that RD3 interacts with guanylate cyclases GC1 and GC2 in retinal cell extracts and HEK293 cells co-expressing GC and RD3. This interaction inhibits GC catalytic activity and promotes the exit of GC1 and GC2 from the endoplasmic reticulum and their trafficking to photoreceptor outer segments. Adeno-associated viral vector delivery of the normal RD3 gene to photoreceptors of the Rd3 mouse restores GC1 and GC2 expression and outer segment localization and leads to the long-term recovery of visual function and photoreceptor cell survival. This review focuses on the genetic and biochemical studies that have provided insight into the role of RD3 in photoreceptor function and survival.

  16. Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.

    Science.gov (United States)

    Downs, Louise M; Scott, Erin M; Cideciyan, Artur V; Iwabe, Simone; Dufour, Valerie; Gardiner, Kristin L; Genini, Sem; Marinho, Luis Felipe; Sumaroka, Alexander; Kosyk, Mychajlo S; Swider, Malgorzata; Aguirre, Geoffrey K; Jacobson, Samuel G; Beltran, William A; Aguirre, Gustavo D

    2016-10-01

    Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the progression of degeneration and the expression profiles of selected genes. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. In mutant dogs, rod and cone photoreceptors have a sensory cilium, but develop and function abnormally and then rapidly degenerate; L/M cones are more severely affected than S-cones. The lack of outer segments in mutant cones indicates a ciliary dysfunction. Genes expressed in mutant rod or both rod and cone photoreceptors show significant downregulation, while those expressed only in cones are unchanged. Many genes in cell-death and -survival pathways also are downregulated. The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures and no CNS abnormalities. Our results identify the critical time points in the pathogenesis of the photoreceptor disease, and bring us closer to defining a potential time window for testing novel therapies for translation to patients.

  17. Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.

    Science.gov (United States)

    Zhang, Wei; Li, Linjing; Su, Qin; Gao, Guangping; Khanna, Hemant

    2017-07-05

    Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder. The Cep290(rd16) (retinal degeneration 16) mouse (a model of LCA) carries a mutation in the Cep290 gene. This mutation leads to shorter cilia formation and defective photoreceptor structure and function. A roadblock to developing a gene replacement strategy for CEP290 using conventional adeno-associated virus (AAV) vectors is its large size. The identification and characterization is reported of a miniCEP290 gene that is amenable to AAV2/8-mediated delivery and delaying retinal degeneration in the Cep290(rd16) mice. Using the ability of Cep290(rd16) mouse embryonic fibroblasts to from shorter cilia as a platform, a human CEP290 domain encoded by amino acids 580-1180 (miniCEP290(580-1180)) was identified that can recover the cilia length in vitro. Furthermore, subretinal injection of AAV particles carrying the cDNA expressing miniCEP290(580-1180) into neonatal Cep290(rd16) mice resulted in significantly improved photoreceptor survival, morphology, and function compared to control injected mice. These studies show the potential of using a truncated CEP290 to treat this fast progressing and devastating disease.

  18. Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.

    Science.gov (United States)

    Pawlyk, Basil S; Bulgakov, Oleg V; Liu, Xiaoqing; Xu, Xiaoyun; Adamian, Michael; Sun, Xun; Khani, Shahrokh C; Berson, Eliot L; Sandberg, Michael A; Li, Tiansen

    2010-08-01

    RPGR-interacting protein-1 (RPGRIP1) is localized in the photoreceptor-connecting cilium, where it anchors the RPGR (retinitis pigmentosa GTPase regulator) protein, and its function is essential for photoreceptor maintenance. Genetic defect in RPGRIP1 is a known cause of Leber congenital amaurosis (LCA), a severe, early-onset form of retinal degeneration. We evaluated the efficacy of replacement gene therapy in a murine model of LCA carrying a targeted disruption of RPGRIP1. The replacement construct, packaged in an adeno-associated virus serotype 8 (AAV8) vector, used a rhodopsin kinase gene promoter to drive RPGRIP1 expression. Both promoter and transgene were of human origin. After subretinal delivery of the replacement gene in the mutant mice, human RPGRIP1 was expressed specifically in photoreceptors, localized correctly in the connecting cilia, and restored the normal localization of RPGR. Electroretinogram and histological examinations showed better preservation of rod and cone photoreceptor function and improved photoreceptor survival in the treated eyes. This study demonstrates the efficacy of human gene replacement therapy and validates a gene therapy design for future clinical trials in patients afflicted with this condition. Our results also have therapeutic implications for other forms of retinal degenerations attributable to a ciliary defect.

  19. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

    Science.gov (United States)

    Astuti, Galuh D N; Bertelsen, Mette; Preising, Markus N; Ajmal, Muhammad; Lorenz, Birgit; Faradz, Sultana M H; Qamar, Raheel; Collin, Rob W J; Rosenberg, Thomas; Cremers, Frans P M

    2016-01-01

    Leber congenital amaurosis (LCA) represents the most severe form of inherited retinal dystrophies with an onset during the first year of life. Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D. In addition, sequence analysis of LRAT and RPE65 may be important in view of treatments that are emerging for patients carrying variants in these genes. Screening of the aforementioned variants and genes was performed in 64 Danish LCA probands. Upon the identification of heterozygous variants, Sanger sequencing was performed of the relevant genes to identify the second allele. In combination with prior arrayed primer extension analysis, this led to the identification of two variants in 42 of 86 cases (49%). Remarkably, biallelic RPE65 variants were identified in 16% of the cases, and one novel variant, p.(D110G), was found in seven RPE65 alleles. We also collected all previously published RPE65 variants, identified in 914 alleles of 539 patients with LCA or early-onset retinitis pigmentosa, and deposited them in the RPE65 Leiden Open Variation Database (LOVD). The in silico pathogenicity assessment of the missense and noncanonical splice site variants, as well as an analysis of their frequency in ~60 000 control individuals, rendered 864 of the alleles to affect function or probably affect function. This comprehensive database can now be used to select patients eligible for gene augmentation or retinoid supplementation therapies. PMID:26626312

  20. Plasticity of the human visual system after retinal gene therapy in patients with Leber’s congenital amaurosis

    Science.gov (United States)

    Ashtari, Manzar; Zhang, Hui; Cook, Philip A.; Cyckowski, Laura L.; Shindler, Kenneth S.; Marshall, Kathleen A.; Aravand, Puya; Vossough, Arastoo; Gee, James C.; Maguire, Albert M.; Baker, Chris I.; Bennett, Jean

    2015-01-01

    Much of our knowledge of the mechanisms underlying plasticity in the visual cortex in response to visual impairment, vision restoration, and environmental interactions comes from animal studies. We evaluated human brain plasticity in a group of patients with Leber’s congenital amaurosis (LCA), who regained vision through gene therapy. Using non-invasive multimodal neuroimaging methods, we demonstrated that reversing blindness with gene therapy promoted long-term structural plasticity in the visual pathways emanating from the treated retina of LCA patients. The data revealed improvements and normalization along the visual fibers corresponding to the site of retinal injection of the gene therapy vector carrying the therapeutic gene in the treated eye compared to the visual pathway for the untreated eye of LCA patients. After gene therapy, the primary visual pathways (for example, geniculostriate fibers) in the treated retina were similar to those of sighted control subjects, whereas the primary visual pathways of the untreated retina continued to deteriorate. Our results suggest that visual experience, enhanced by gene therapy, may be responsible for the reorganization and maturation of synaptic connectivity in the visual pathways of the treated eye in LCA patients. The interactions between the eye and the brain enabled improved and sustained long-term visual function in patients with LCA after gene therapy. PMID:26180100

  1. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration.

    Science.gov (United States)

    Simonelli, Francesca; Maguire, Albert M; Testa, Francesco; Pierce, Eric A; Mingozzi, Federico; Bennicelli, Jeannette L; Rossi, Settimio; Marshall, Kathleen; Banfi, Sandro; Surace, Enrico M; Sun, Junwei; Redmond, T Michael; Zhu, Xiaosong; Shindler, Kenneth S; Ying, Gui-Shuang; Ziviello, Carmela; Acerra, Carmela; Wright, J Fraser; McDonnell, Jennifer Wellman; High, Katherine A; Bennett, Jean; Auricchio, Alberto

    2010-03-01

    The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies have provided evidence that the subretinal administration of adeno-associated viral (AAV) vectors encoding RPE65 in patients affected with LCA2 due to mutations in the RPE65 gene, is safe and, in some cases, results in efficacy. We evaluated the long-term safety and efficacy (global effects on retinal/visual function) resulting from subretinal administration of AAV2-hRPE65v2. Both the safety and the efficacy noted at early timepoints persist through at least 1.5 years after injection in the three LCA2 patients enrolled in the low dose cohort of our trial. A transient rise in neutralizing antibodies to AAV capsid was observed but there was no humoral response to RPE65 protein. The persistence of functional amelioration suggests that AAV-mediated gene transfer to the human retina does not elicit immunological responses which cause significant loss of transduced cells. The persistence of physiologic effect supports the possibility that gene therapy may influence LCA2 disease progression. The safety of the intervention and the stability of the improvement in visual and retinal function in these subjects support the use of AAV-mediated gene augmentation therapy for treatment of inherited retinal diseases.

  2. Targeted Multifunctional Lipid ECO Plasmid DNA Nanoparticles as Efficient Non-viral Gene Therapy for Leber's Congenital Amaurosis.

    Science.gov (United States)

    Sun, Da; Sahu, Bhubanananda; Gao, Songqi; Schur, Rebecca M; Vaidya, Amita M; Maeda, Akiko; Palczewski, Krzysztof; Lu, Zheng-Rong

    2017-06-16

    Development of a gene delivery system with high efficiency and a good safety profile is essential for successful gene therapy. Here we developed a targeted non-viral delivery system using a multifunctional lipid ECO for treating Leber's congenital amaurosis type 2 (LCA2) and tested this in a mouse model. ECO formed stable nanoparticles with plasmid DNA (pDNA) at a low amine to phosphate (N/P) ratio and mediated high gene transfection efficiency in ARPE-19 cells because of their intrinsic properties of pH-sensitive amphiphilic endosomal escape and reductive cytosolic release (PERC). All-trans-retinylamine, which binds to interphotoreceptor retinoid-binding protein (IRBP), was incorporated into the nanoparticles via a polyethylene glycol (PEG) spacer for targeted delivery of pDNA into the retinal pigmented epithelium. The targeted ECO/pDNA nanoparticles provided high GFP expression in the RPE of 1-month-old Rpe65(-/-) mice after subretinal injection. Such mice also exhibited a significant increase in electroretinographic activity, and this therapeutic effect continued for at least 120 days. A safety study in wild-type BALB/c mice indicated no irreversible retinal damage following subretinal injection of these targeted nanoparticles. All-trans-retinylamine-modified ECO/pDNA nanoparticles provide a promising non-viral platform for safe and effective treatment of RPE-specific monogenic eye diseases such as LCA2. Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.

  3. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  4. [Gene therapy for vision restoration in patients with Leber congenital amaurosis (LCA) due to RPE65 gene mutations: beginning the phase IV trial].

    Science.gov (United States)

    Chacón-Camacho, Óscar Francisco; Zenteno, Juan Carlos

    This is a significant time moment in the field of gene therapy in humans. Recently, results from a phase III clinical trial were published, demonstrating the first gene therapy success for a genetic disease. A clinical trial was carried out in patients suffering a hereditary blindness disease named Leber congenital amaurosis, caused by mutations in the RPE65 gene. Participating subjects received a subretinal injection of the normal RPE65 gene and one year after exhibited a significant improvement in visual acuity. It is expected that this gene therapy treatment will be approved by the FDA and commercialized in the USA in 2017.

  5. Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration.

    Science.gov (United States)

    den Hollander, Anneke I

    2016-03-01

    The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples are discussed here. The first is Leber congenital amaurosis (LCA), a severe inherited retinal dystrophy leading to severe vision loss in children, and the second is age-related macular degeneration (AMD), the most common cause of vision loss in the elderly. Twenty years ago, the genetic causes of these diseases were unknown. Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases. Gene-specific treatments have entered the clinical trial phase for three LCA genes, and for seven LCA genes gene-specific therapies have been tested in model systems. Age-related macular degeneration is a multifactorial disease caused by a combination of genetic and environmental factors. Currently, more than 40 loci have been identified for AMD, accounting for 15%-65% of the total genetic contribution to AMD. Despite the progress that has been made so far, genetic testing is not yet recommended for AMD, but this may change if we move to clinical trials or treatments that are dependent on an individual's genotype. The identification of serum or plasma biomarkers using other "-omics" technologies may further improve predictive tests and our understanding of the disease mechanisms of AMD. Ultimately, it is anticipated that predictive tests will help to stratify patients for the most suitable therapy, which will enable the development of precision medicine, tailored to individual needs.

  6. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

    Science.gov (United States)

    Tan, Mei Hong; Mackay, Donna S; Cowing, Jill; Tran, Hoai Viet; Smith, Alexander J; Wright, Genevieve A; Dev-Borman, Arundhati; Henderson, Robert H; Moradi, Phillip; Russell-Eggitt, Isabelle; MacLaren, Robert E; Robson, Anthony G; Cheetham, Michael E; Thompson, Dorothy A; Webster, Andrew R; Michaelides, Michel; Ali, Robin R; Moore, Anthony T

    2012-01-01

    Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (n = 392) and probed the likelihood of disease-causation of the identified variants, subsequently undertaking a detailed assessment of the phenotype of patients with disease-causing mutations. Genomic DNA samples were screened for known variants in the AIPL1 gene using a microarray LCA chip, with 153 of these cases then being directly sequenced. The assessment of disease-causation of identified AIPL1 variants included segregation testing, assessing evolutionary conservation and in silico predictions of pathogenicity. The chip identified AIPL1 variants in 12 patients. Sequencing of AIPL1 in 153 patients and 96 controls found a total of 46 variants, with 29 being novel. In silico analysis suggested that only 6 of these variants are likely to be disease-causing, indicating a previously unrecognized high degree of polymorphism. Seven patients were identified with biallelic changes in AIPL1 likely to be disease-causing. In the youngest subject, electroretinography revealed reduced cone photoreceptor function, but rod responses were within normal limits, with no measurable ERG in other patients. An increasing degree and extent of peripheral retinal pigmentation and degree of maculopathy was noted with increasing age in our series. AIPL1 is significantly polymorphic in both controls and patients, thereby complicating the establishment of disease-causation of identified variants. Despite the associated phenotype being characterised by early-onset severe visual loss in our patient series, there was some evidence of a degree of retinal structural and functional preservation, which was most marked in the youngest patient in our cohort. This data suggests

  7. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

    Directory of Open Access Journals (Sweden)

    Mei Hong Tan

    Full Text Available Leber Congenital Amaurosis (LCA and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the prevalence of sequence variants in AIPL1 in a large cohort of such patients (n = 392 and probed the likelihood of disease-causation of the identified variants, subsequently undertaking a detailed assessment of the phenotype of patients with disease-causing mutations. Genomic DNA samples were screened for known variants in the AIPL1 gene using a microarray LCA chip, with 153 of these cases then being directly sequenced. The assessment of disease-causation of identified AIPL1 variants included segregation testing, assessing evolutionary conservation and in silico predictions of pathogenicity. The chip identified AIPL1 variants in 12 patients. Sequencing of AIPL1 in 153 patients and 96 controls found a total of 46 variants, with 29 being novel. In silico analysis suggested that only 6 of these variants are likely to be disease-causing, indicating a previously unrecognized high degree of polymorphism. Seven patients were identified with biallelic changes in AIPL1 likely to be disease-causing. In the youngest subject, electroretinography revealed reduced cone photoreceptor function, but rod responses were within normal limits, with no measurable ERG in other patients. An increasing degree and extent of peripheral retinal pigmentation and degree of maculopathy was noted with increasing age in our series. AIPL1 is significantly polymorphic in both controls and patients, thereby complicating the establishment of disease-causation of identified variants. Despite the associated phenotype being characterised by early-onset severe visual loss in our patient series, there was some evidence of a degree of retinal structural and functional preservation, which was most marked in the youngest patient in our cohort

  8. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.

    Science.gov (United States)

    Gradstein, Libe; Zolotushko, Jenny; Sergeev, Yuri V; Lavy, Itay; Narkis, Ginat; Perez, Yonatan; Guigui, Sarah; Sharon, Dror; Banin, Eyal; Walter, Eyal; Lifshitz, Tova; Birk, Ohad S

    2016-07-30

    Leber congenital amaurosis (LCA) is a severe retinal degenerative disease that manifests as blindness or poor vision in infancy. The purpose of this study was to clinically characterize and identify the cause of disease in a large inbred Bedouin Israeli tribe with LCA. Thirty individuals of a single kindred, including eight affected with LCA, were recruited for this study. Patients' clinical data and electroretinography (ERG) findings were collected. Molecular analysis included homozygosity mapping with polymorphic markers and Sanger sequencing of candidate genes. Of the eight affected individuals of the kindred, nystagmus was documented in five subjects and keratoconus in three. Cataract was found in 5 of 16 eyes. Photopic and scotopic ERG performed in 5 patients were extinguished. All affected subjects were nearly blind, their visual acuity ranged between finger counting and uncertain light perception. Assuming autosomal recessive heredity of a founder mutation, studies using polymorphic markers excluded homozygosity of affected individuals at the genomic loci of all previously known genes associated with LCA, except GUCY2D. Sequencing of GUCY2D identified a novel missense mutation (c.2129C>T; p.Ala710Val) resulting in substitution of alanine by valine at position 710 within the protein kinase domain of the retina-specific enzyme guanylate cyclase 1 (GC1) encoded by GUCY2D. Molecular modeling implied that the mutation changes the conformation of the regulatory segment within the kinase styk-domain of GC1 and causes loss of its helical structure, likely inhibiting phosphorylation of threonine residue within this segment, which is needed to activate the catalytic domain of the protein. This is the first documentation of the p.Ala710Val mutation in GC1 and the second ever described mutation in its protein kinase domain. Our findings enlarge the scope of genetic variability of LCA, highlight the phenotypic heterogeneity found amongst individuals harboring an

  9. Laboratory Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Pomares, Christelle; Montoya, Jose G

    2016-10-01

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

  10. The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

    Directory of Open Access Journals (Sweden)

    Juan Hidalgo-de-Quintana

    Full Text Available The aim of this study was to investigate the interaction and co-localization of novel interacting proteins with the Leber congenital amaurosis (LCA associated protein aryl hydrocarbon receptor interacting protein-like 1 (AIPL1.The CytoTrapXR yeast two-hybrid system was used to screen a bovine retinal cDNA library. A novel interaction between AIPL1 and members of the family of EB proteins was confirmed by directed yeast two-hybrid analysis and co-immunoprecipitation assays. The localization of AIPL1 and the EB proteins in cultured cells and in retinal cryosections was examined by immunofluorescence microscopy and cryo-immunogold electron microscopy.Yeast two-hybrid (Y2H analysis identified the interaction between AIPL1 and the EB proteins, EB1 and EB3. EB1 and EB3 were specifically co-immunoprecipitated with AIPL1 from SK-N-SH neuroblastoma cells. In directed 1:1 Y2H analysis, the interaction of EB1 with AIPL1 harbouring the LCA-causing mutations A197P, C239R and W278X was severely compromised. Immunofluorescent confocal microscopy revealed that AIPL1 did not co-localize with endogenous EB1 at the tips of microtubules, endogenous EB1 at the microtubule organising centre following disruption of the microtubule network, or with endogenous β-tubulin. Moreover, AIPL1 did not localize to primary cilia in ARPE-19 cells, whereas EB1 co-localized with the centrosomal marker pericentrin at the base of primary cilia. However, both AIPL1 and the EB proteins, EB1 and EB3, co-localized with centrin-3 in the connecting cilium of photoreceptor cells. Cryo-immunogold electron microscopy confirmed the co-localization of AIPL1 and EB1 in the connecting cilia in human retinal photoreceptors.AIPL1 and the EB proteins, EB1 and EB3, localize at the connecting cilia of retinal photoreceptor cells, but do not co-localize in the cellular microtubule network or in primary cilia in non-retinal cells. These findings suggest that AIPL1 function in these cells is not related

  11. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

    DEFF Research Database (Denmark)

    Siemiatkowska, Anna M; van den Born, L Ingeborgh; van Genderen, Maria M

    2014-01-01

    and associated phenotypes in different types of inherited retinal dystrophies. METHODS: DNA samples of 161 patients with LCA without genetic diagnosis were analyzed for variants in NMNAT1 using Sanger sequencing. Variants in exon 5 of NMNAT1, which harbors the majority of the previously identified mutations......, were screened in 532 additional patients with retinal dystrophies. This cohort encompassed 108 persons with isolated or autosomal recessive cone-rod dystrophy (CRD), 271 with isolated or autosomal recessive retinitis pigmentosa (RP), and 49 with autosomal dominant RP, as well as 104 persons with LCA...... in whom the causative mutation was previously identified. RESULTS: Compound heterozygous alterations were found in six patients with LCA and in one person with early-onset RP. All except one carried the common p.E257K variant on one allele. Macular atrophy was absent in one patient, who carried...

  12. 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.

  13. Leber Congenital Amaurosis

    Science.gov (United States)

    ... Resources Low Vision Specialists Retinal Physicians My Retina Tracker Registry Genetic Testing Clinical Trials Join the Fight ... which measure visual function, detect little if any activity in the retina. A low level of retinal ...

  14. Current advance in genetics and clinical phenotype of Leber congenital amaurosis%Leber先天性黑矇致病基因及相关临床表型研究进展

    Institute of Scientific and Technical Information of China (English)

    王淑然

    2013-01-01

    Leber congenital amaurosis (LCA) is one of the main inherited retinal diseases causing congenital blindness.LCA is also characterized by genetic heterogeneity and variable clinical phenotypes.Recent years,a lot of molecular genetic studies related with its pathogenesis have been performed.So far,20 causative genes have been identified that account for LCA.Some correlations between genotype and clinical phenotype have also been found.Those specific clinical manifestations may help to identify the mutant gene that causes the LCA.This review summarized the causal genes,their roles in the pathogenesis of LCA,coupled with relationship between specific gene and Corresponding phenotype,which will assist the clinician in patient diagnosis and counseling.%Leber先天性黑矇(LCA)是导致先天性盲的主要遗传性视网膜疾病,具有遗传异质性与临床表型多样性的特点.近年来其分子遗传学研究成为国内外热点,相继明确了20个与LCA相关的致病基因.多项研究表明LCA的基因型和临床表型之间存在关联,了解不同致病基因对应的临床表型特点有助于致病基因的筛查.就当前发现的LCA致病基因、可能的发病机制以及特定基因型与临床表型的关系进行综述,以期有助于临床诊断和咨询.

  15. [Amaurosis fugax of cardiac origin].

    Science.gov (United States)

    Michaux, S; Lebrun, F; Beissel, J

    2005-01-01

    We present the case of a 49 year old woman who was admitted to the emergency department for dyspnoea, transient amaurosis and limbs oedema. During hospitalisation a full workup revealed multisystemic thrombosis and dilated cardiomyopathy in relation with viral myocarditis due to Coxackie B infection. Diagnosis and treatment will be discussed in light of the litterature.

  16. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

    Science.gov (United States)

    Cideciyan, Artur V; Aleman, Tomas S; Jacobson, Samuel G; Khanna, Hemant; Sumaroka, Alexander; Aguirre, Geoffrey K; Schwartz, Sharon B; Windsor, Elizabeth A M; He, Shirley; Chang, Bo; Stone, Edwin M; Swaroop, Anand

    2007-11-01

    Mutations in the centrosomal-ciliary gene CEP290/NPHP6 are associated with Joubert syndrome and are the most common cause of the childhood recessive blindness known as Leber congenital amaurosis (LCA). An in-frame deletion in Cep290 shows rapid degeneration in the rod-rich mouse retina. To explore the mechanisms of the human retinal disease, we studied CEP290-LCA in patients of different ages (7-48 years) and compared results to Cep290-mutant mice. Unexpectedly, blind CEP290-mutant human retinas retained photoreceptor and inner laminar architecture in the cone-rich central retina, independent of severity of visual loss. Surrounding the cone-rich island was photoreceptor loss and distorted retina, suggesting neural-glial remodeling. The mutant mouse retina at 4-6 weeks of age showed similar features of retinal remodeling, with altered neural and synaptic laminae and Muller glial activation. The visual brain pathways in CEP290-LCA were anatomically intact. Our findings of preserved foveal cones and visual brain anatomy in LCA with CEP290 mutations, despite severe blindness and rapid rod cell death, suggest an opportunity for visual restoration of central vision in this common form of inherited blindness.

  17. Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

    Science.gov (United States)

    Acar, Ceren; Mears, Alan J; Yashar, Beverly M; Maheshwary, Anjali S; Andreasson, Sten; Baldi, Alfonso; Sieving, Paul A; Iannaccone, Alessandro; Musarella, Maria A; Jacobson, Samuel G; Swaroop, Anand

    2003-01-24

    To determine if mutations in the retinal transcription factor gene NRL are associated with retinopathies other than autosomal dominant retinitis pigmentosa (adRP). Genomic DNA was isolated from blood samples obtained from 50 patients with Leber Congenital Amaurosis (LCA), 17 patients with the Enhanced S-Cone Syndrome (ESCS), and a patient with an atypical retinal degeneration that causes photoreceptor rosettes with blue cone opsin. The 5' upstream region (putative promoter), untranslated exon 1, coding exons 2 and 3, and exon-intron boundaries of the NRL gene were analyzed by direct sequencing of the PCR-amplified products. Complete sequencing of the NRL gene in DNA samples from this cohort of patients revealed only one nucleotide change. The C->G transversion at nucleotide 711 of NRL exon 3 was detected in one LCA patient; however, this change did not alter the amino acid (L237L). No potential disease causing mutation was identified in the NRL gene in patients with LCA, ESCS, or the atypical retinal degeneration. Together with previous studies, our results demonstrate that mutations in the NRL gene are not a major cause of retinopathy. To date, only missense changes have been reported in adRP patients, and sequence variations are rare. It is possible that the loss of NRL function in humans is associated with a more complex clinical phenotype due to its expression in pineal gland in addition to rod photoreceptors.

  18. Laboratory Diagnosis of Congenital Toxoplasmosis

    OpenAIRE

    2016-01-01

    Recent studies have demonstrated that screening and treatment for toxoplasmosis during gestation result in a decrease of vertical transmission and clinical sequelae. Early treatment was associated with improved outcomes. Thus, laboratory methods should aim for early identification of infants with congenital toxoplasmosis (CT). Diagnostic approaches should include, at least, detection of Toxoplasma IgG, IgM, and IgA and a comprehensive review of maternal history, including the gestational age ...

  19. Diagnosis and treatment of congenital heart defects

    Energy Technology Data Exchange (ETDEWEB)

    Peuster, M.; Beerbaum, P.; Meyer, H. [Ruhr-Universitaet Bochum, Bad Oeyenhausen (Germany). Herz- und Diabeteszentrum NRW

    2004-07-01

    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.)

  20. PROBLEM OF DIAGNOSIS OF EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2013-01-01

    Full Text Available The paper presents a case of delayed diagnosis of early congenital syphilis in a child whose mother was observed in prenatal clinic starting from the 14th week of pregnancy. The child had specific skin rash already in maternity. The child was discharged home without examination in the hospital. Only manifestations of nephritis lead to admission of the child into an inpatient hospital. Only at the age of 1 month and 23 days the child was suspected of early congenital syphilis with severe polisimptomnym, and the patient was transferred to specialized hospital. 

  1. An integrated diagnosis strategy for congenital myopathies.

    Directory of Open Access Journals (Sweden)

    Johann Böhm

    Full Text Available Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present with unspecific histological features, precluding purposive molecular diagnosis and demonstrating the need for an alternative and more efficient diagnostic approach. We used exome sequencing complemented by histological and ultrastructural analysis of muscle biopsies to identify the causative mutations in eight patients with clinically different skeletal muscle pathologies, ranging from a fatal neonatal myopathy to a mild and slowly progressive myopathy with adult onset. We identified RYR1 (ryanodine receptor mutations in six patients and NEB (nebulin mutations in two patients. We found novel missense and nonsense mutations, unraveled small insertions/deletions and confirmed their impact on splicing and mRNA/protein stability. Histological and ultrastructural findings of the muscle biopsies of the patients validated the exome sequencing results. We provide the evidence that an integrated strategy combining exome sequencing with clinical and histopathological investigations overcomes the limitations of the individual approaches to allow a fast and efficient diagnosis, accelerating the patient's access to a better healthcare and disease management. This is of particular interest for the diagnosis of congenital myopathies, which involve very large genes like RYR1 and NEB as well as genetic and phenotypic heterogeneity.

  2. Progress in gene therapy study of Leber congenital amaurosis%Leber先天性黑矇的基因治疗研究进展

    Institute of Scientific and Technical Information of China (English)

    潘珊珊; 郑钦象; 李文生; 庞继景

    2011-01-01

    Leber congenital amaurosis (LCA)is an early onset retinal dystrophy that causes severe visual impairment. With the development of molecular genetics and the therapeutic gene replacement technology, the adeno-associated viral (AAV) vector-mediated gene therapy for LCA achieved encouraging progress in the past decade. The success of the Phase Ⅰ clinical trials of human RPE65 gene therapy for LCA Ⅱ patients makes it a pioneer in the field of retinal gene therapy and brings light to the cure of other hereditary retinopathy. This article briefly reviews the recent developments in the preclinical animal experiments and Phase Ⅰ clinical trials for LCA.%Leber先天性黑矇(LCA)是一种严重的先天性致肓遗传性视网膜疾病.近1O年来,随着分子遗传学的发展及基因治疗技术的进步,以腺相关病毒载体介导的LCA基因治疗研究取得了令人鼓舞的进展,尤其是对LCAⅡ患者进行的RPE65基因治疗的Ⅰ期临床试验的成功使其成为眼科遗传性疾病基因治疗领域中的先行者,为今后进行其他遗传性视网膜疾病的基因治疗开辟了光明的前景.本文就目前LCA基因治疗的临床前研究及Ⅰ期临床试验的进展等方面作一综述.

  3. Gene Therapy Fully Restores Vision to the All-Cone Nrl(-/-) Gucy2e(-/-) Mouse Model of Leber Congenital Amaurosis-1.

    Science.gov (United States)

    Boye, Sanford L; Peterson, James J; Choudhury, Shreyasi; Min, Seok Hong; Ruan, Qing; McCullough, K Tyler; Zhang, Zhonghong; Olshevskaya, Elena V; Peshenko, Igor V; Hauswirth, William W; Ding, Xi-Qin; Dizhoor, Alexander M; Boye, Shannon E

    2015-09-01

    Mutations in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). GUCY2D encodes retinal guanylate cyclase-1 (retGC1), a protein expressed exclusively in outer segments of photoreceptors and essential for timely recovery from photoexcitation. Recent clinical data show that, despite a high degree of visual disturbance stemming from a loss of cone function, LCA1 patients retain normal photoreceptor architecture, except for foveal cone outer segment abnormalities and, in some patients, foveal cone loss. These results point to the cone-rich central retina as a target for GUCY2D replacement. LCA1 gene replacement studies thus far have been conducted in rod-dominant models (mouse) or with vectors and organisms lacking clinical translatability. Here we investigate gene replacement in the Nrl(-/-) Gucy2e(-/-) mouse, an all-cone model deficient in retGC1. We show that AAV-retGC1 treatment fully restores cone function, cone-mediated visual behavior, and guanylate cyclase activity, and preserves cones in treated Nrl(-/-) Gucy2e(-/-) mice over the long-term. A novel finding was that retinal function could be restored to levels above that in Nrl(-/-) controls, contrasting results in other models of retGC1 deficiency. We attribute this to increased cyclase activity in treated Nrl(-/-) Gucy2e(-/-) mice relative to Nrl(-/-) controls. Thus, Nrl(-/-) Gucy2e(-/-) mice possess an expanded dynamic range in ERG response to gene replacement relative to other models. Lastly, we show that a candidate clinical vector, AAV5-GRK1-GUCY2D, when delivered to adult Nrl(-/-) Gucy2e(-/-) mice, restores retinal function that persists for at least 6 months. Our results provide strong support for clinical application of a gene therapy targeted to the cone-rich, central retina of LCA1 patients.

  4. Gene therapy rescues cone structure and function in the 3-month-old rd12 mouse: a model for midcourse RPE65 leber congenital amaurosis.

    Science.gov (United States)

    Li, Xia; Li, Wensheng; Dai, Xufeng; Kong, Fansheng; Zheng, Qinxiang; Zhou, Xiangtian; Lü, Fan; Chang, Bo; Rohrer, Bärbel; Hauswirth, William W; Qu, Jia; Pang, Ji-jing

    2011-01-01

    RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration. Recent Leber congenital amaurosis type 2 (LCA with RPE65 mutations) phase I clinical trials demonstrated restoration of vision on RPE65 gene transfer into RPE cells overlying cones. In the rd12 mouse, a naturally occurring model of RPE65-LCA early cone degeneration was observed; however, some peripheral M-cones remained. A prior study showed that AAV-mediated RPE65 expression can prevent early cone degeneration. The present study was conducted to test whether the remaining cones in older rd12 mice can be rescued. Subretinal treatment with the scAAV5-smCBA-hRPE65 vector was initiated at postnatal day (P)14 and P90. After 2 months, electroretinograms were recorded, and cone morphology was analyzed by using cone-specific peanut agglutinin and cone opsin-specific antibodies. Cone degeneration started centrally and spread ventrally, with cells losing cone-opsin staining before that for the PNA-lectin-positive cone sheath. Gene therapy starting at P14 resulted in almost wild-type M- and S-cone function and morphology. Delaying gene-replacement rescued the remaining M-cones, and most important, more M-cone opsin-positive cells were identified than were present at the onset of gene therapy, suggesting that opsin expression could be reinitiated in cells with cone sheaths. The results support and extend those of the previous study that gene therapy can stop early cone degeneration, and, more important, they provide proof that delayed treatment can restore the function and morphology of the remaining cones. These results have important implications for the ongoing LCA2 clinical trials.

  5. Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.

    Science.gov (United States)

    Mihelec, Marija; Pearson, Rachael A; Robbie, Scott J; Buch, Prateek K; Azam, Selina A; Bainbridge, James W B; Smith, Alexander J; Ali, Robin R

    2011-10-01

    Leber congenital amaurosis (LCA) is a severe retinal dystrophy manifesting from early infancy as poor vision or blindness. Loss-of-function mutations in GUCY2D cause LCA1 and are one of the most common causes of LCA, accounting for 20% of all cases. Human GUCY2D and mouse Gucy2e genes encode guanylate cyclase-1 (GC1), which is responsible for restoring the dark state in photoreceptors after light exposure. The Gucy2e(-/-) mouse shows partially diminished rod function, but an absence of cone function before degeneration. Although the cones appear morphologically normal, they exhibit mislocalization of proteins involved in phototransduction. In this study we tested the efficacy of an rAAV2/8 vector containing the human rhodopsin kinase promoter and the human GUCY2D gene. Following subretinal delivery of the vector in Gucy2e(-/-) mice, GC1 protein was detected in the rod and cone outer segments, and in transduced areas of retina cone transducin was appropriately localized to cone outer segments. Moreover, we observed a dose-dependent restoration of rod and cone function and an improvement in visual behavior of the treated mice. Most importantly, cone preservation was observed in transduced areas up to 6 months post injection. To date, this is the most effective rescue of the Gucy2e(-/-) mouse model of LCA and we propose that a vector, similar to the one used in this study, could be suitable for use in a clinical trial of gene therapy for LCA1.

  6. Gene therapy using self-complementary Y733F capsid mutant AAV2/8 restores vision in a model of early onset Leber congenital amaurosis.

    Science.gov (United States)

    Ku, Cristy A; Chiodo, Vince A; Boye, Sanford L; Goldberg, Andrew F X; Li, Tiansen; Hauswirth, William W; Ramamurthy, Visvanathan

    2011-12-01

    Defects in the photoreceptor-specific gene aryl hydrocarbon receptor interacting protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early-onset retinal degeneration and vision loss. Furthermore, Aipl1 defects are characterized at the most severe end of the LCA spectrum. The rapid photoreceptor degeneration and vision loss observed in the LCA patient population are mimicked in a mouse model lacking AIPL1. Using this model, we evaluated if gene replacement therapy using recent advancements in adeno-associated viral vectors (AAV) provides advantages in preventing rapid retinal degeneration. Specifically, we demonstrated that the novel self-complementary Y733F capsid mutant AAV2/8 (sc-Y733F-AAV) provided greater preservation of photoreceptors and functional vision in Aipl1 null mice compared with single-stranded AAV2/8. The benefits of sc-Y733F-AAV were evident following viral administration during the active phase of retinal degeneration, where only sc-Y733F-AAV treatment achieved functional vision rescue. This result was likely due to higher and earlier onset of Aipl1 expression. Based on our studies, we conclude that the sc-Y733F-AAV2/8 viral vector, to date, achieves the best rescue for rapid retinal degeneration in Aipl1 null mice. Our results provide important considerations for viral vectors to be used in future gene therapy clinical trials targeting a wider severity spectrum of inherited retinal dystrophies.

  7. Prenatal Diagnosis of Congenital Dermal Sinus

    Directory of Open Access Journals (Sweden)

    Sharif Sakr

    2015-04-01

    Full Text Available Background - Congenital dermal sinus (CDS is an uncommon form of spinal dysraphism. Although postdelivery identification in the neonate is aided by several associated physical examination findings, establishing this diagnosis prenatally has proven to be elusive. Case Report - We present a case of CDS where the prenatal findings at 20 weeks gestation led to the diagnosis, which was confirmed postnatally. The associated protrusion of fibrotic membranes through the sinus tract helped in the identification of this lesion prenatally, but created confusion with a more common type of lesion, an open neural tube defect. This is the first case report in the literature describing prenatal diagnosis of fetal CDS. Conclusion - Prenatal diagnosis with postnatal confirmation of CDS leads to early intervention, better long-term outcomes, and lesser complications.

  8. Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations

    Science.gov (United States)

    Sui, Ruifang; van den Born, L. Ingeborgh; Berson, Eliot L.; Ocaka, Louise A.; Davidson, Alice E.; Heckenlively, John R.; Branham, Kari; Ren, Huanan; Lopez, Irma; Maria, Maleeha; Azam, Maleeha; Henkes, Arjen; Blokland, Ellen; Qamar, Raheel; Webster, Andrew R.; Andreasson, Sten; de Baere, Elfride; Bennett, Jean; Chader, Gerald J.; Berger, Wolfgang; Golovleva, Irina; Greenberg, Jacquie; den Hollander, Anneke I.; Klaver, Caroline C.W.; Klevering, B. Jeroen; Lorenz, Birgit; Preising, Markus N.; Ramsear, Raj; Roberts, Lisa; Roepman, Ronald; Rohrschneider, Klaus; Wissinger, Bernd

    2014-01-01

    To investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early onset rod-cone dystrophy (EORD) and autosomal recessive retinitis pigmentosa (RP), to delineate the ocular phenotypes, and to provide an overview of all published LCA5 variants in an online database._Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and fundus autofluorescence imaging was possible. DNA samples from 797 unrelated patients with LCA and 211 with the various types of RP were screened by Sanger sequence analysis of all LCA5 exons and intron/exon junctions. Some LCA patients were pre-screened by APEX technology or selected based on homozygosity mapping. In silico analyses were performed to assess the pathogenicity of the variants. Segregation analysis was performed where possible. Published and novel LCA5 variants were collected, amended for their correct nomenclature, and listed in a Leiden Open Variation Database (LOVD). Sequence analysis identified 18 new probands with 19 different LCA5 variants. Seventeen of the 19 LCA5 variants were novel. Except for two missense variants and one splice site variant, all variants were protein-truncating mutations. Most patients expressed a severe phenotype, typical of LCA. However, some LCA subjects had better vision and intact inner segment/outer segment (IS/OS) junctions on OCT imaging. In two families with LCA5 variants, the phenotype was more compatible with EORD with affected individuals displaying preserved islands of RPE. One of these milder families harbored a homozygous splice site mutation, a second family was found to have a combination of a stop mutation and a missense mutation. This is the largest LCA5 study to date. We sequenced 1008 patients (797 with LCA, 211 with arRP) and identified 18 probands with LCA5 mutations. Mutations in LCA5 are a rare cause of childhood retinal dystrophy accounting for

  9. Gene Therapy Fully Restores Vision to the All-Cone Nrl−/−Gucy2e−/− Mouse Model of Leber Congenital Amaurosis-1

    Science.gov (United States)

    Boye, Sanford L.; Peterson, James J.; Choudhury, Shreyasi; Min, Seok Hong; Ruan, Qing; McCullough, K. Tyler; Zhang, Zhonghong; Olshevskaya, Elena V.; Peshenko, Igor V.; Hauswirth, William W.; Ding, Xi-Qin; Dizhoor, Alexander M.; Boye, Shannon E.

    2015-01-01

    Mutations in GUCY2D are the cause of Leber congenital amaurosis type 1 (LCA1). GUCY2D encodes retinal guanylate cyclase-1 (retGC1), a protein expressed exclusively in outer segments of photoreceptors and essential for timely recovery from photoexcitation. Recent clinical data show that, despite a high degree of visual disturbance stemming from a loss of cone function, LCA1 patients retain normal photoreceptor architecture, except for foveal cone outer segment abnormalities and, in some patients, foveal cone loss. These results point to the cone-rich central retina as a target for GUCY2D replacement. LCA1 gene replacement studies thus far have been conducted in rod-dominant models (mouse) or with vectors and organisms lacking clinical translatability. Here we investigate gene replacement in the Nrl−/−Gucy2e−/− mouse, an all-cone model deficient in retGC1. We show that AAV-retGC1 treatment fully restores cone function, cone-mediated visual behavior, and guanylate cyclase activity, and preserves cones in treated Nrl−/−Gucy2e−/− mice over the long-term. A novel finding was that retinal function could be restored to levels above that in Nrl−/− controls, contrasting results in other models of retGC1 deficiency. We attribute this to increased cyclase activity in treated Nrl−/−Gucy2e−/− mice relative to Nrl−/− controls. Thus, Nrl−/−Gucy2e−/− mice possess an expanded dynamic range in ERG response to gene replacement relative to other models. Lastly, we show that a candidate clinical vector, AAV5-GRK1-GUCY2D, when delivered to adult Nrl−/−Gucy2e−/− mice, restores retinal function that persists for at least 6 months. Our results provide strong support for clinical application of a gene therapy targeted to the cone-rich, central retina of LCA1 patients. PMID:26247368

  10. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

    Directory of Open Access Journals (Sweden)

    Shannon E Boye

    Full Text Available Mutations in the CEP290 (cilia-centrosomal protein 290 kDa gene in Leber congenital amaurosis (LCA cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl-/-, was engineered to mimic the human disease. In the current study, we determined the natural history of retinal structure and function in this murine model to permit design of pre-clinical proof-of-concept studies and allow progress to be made toward human therapy. Analyses of retinal structure and visual function in CEP290-LCA patients were also performed for comparison with the results in the model.Rd16;Nrl-/- mice were studied in the first 90 days of life with optical coherence tomography (OCT, electroretinography (ERG, retinal histopathology and immunocytochemistry. Structure and function data from a cohort of patients with CEP290-LCA (n = 15; ages 7-48 were compared with those of the model.CEP290-LCA patients retain a central island of photoreceptors with normal thickness at the fovea (despite severe visual loss; the extent of this island declined slowly with age. The rd16;Nrl-/- model also showed a relatively slow photoreceptor layer decline in thickness with ∼80% remaining at 3 months. The number of pseudorosettes also became reduced. By comparison to single mutant Nrl-/- mice, UV- and M-cone ERGs of rd16;Nrl-/- were at least 1 log unit reduced at 1 month of age and declined further over the 3 months of monitoring. Expression of GNAT2 and S-opsin also decreased with age.The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-LCA patients and the rd16;Nrl-/- murine model. Pre-clinical proof-of-concept studies for uniocular therapies would seem most appropriate to begin with intervention at P35-40 and re-study after one month by assaying interocular difference in the UV-cone ERG.

  11. Natural history of cone disease in the murine model of Leber congenital amaurosis due to CEP290 mutation: determining the timing and expectation of therapy.

    Science.gov (United States)

    Boye, Shannon E; Huang, Wei-Chieh; Roman, Alejandro J; Sumaroka, Alexander; Boye, Sanford L; Ryals, Renee C; Olivares, Melani B; Ruan, Qing; Tucker, Budd A; Stone, Edwin M; Swaroop, Anand; Cideciyan, Artur V; Hauswirth, William W; Jacobson, Samuel G

    2014-01-01

    Mutations in the CEP290 (cilia-centrosomal protein 290 kDa) gene in Leber congenital amaurosis (LCA) cause early onset visual loss but retained cone photoreceptors in the fovea, which is the potential therapeutic target. A cone-only mouse model carrying a Cep290 gene mutation, rd16;Nrl-/-, was engineered to mimic the human disease. In the current study, we determined the natural history of retinal structure and function in this murine model to permit design of pre-clinical proof-of-concept studies and allow progress to be made toward human therapy. Analyses of retinal structure and visual function in CEP290-LCA patients were also performed for comparison with the results in the model. Rd16;Nrl-/- mice were studied in the first 90 days of life with optical coherence tomography (OCT), electroretinography (ERG), retinal histopathology and immunocytochemistry. Structure and function data from a cohort of patients with CEP290-LCA (n = 15; ages 7-48) were compared with those of the model. CEP290-LCA patients retain a central island of photoreceptors with normal thickness at the fovea (despite severe visual loss); the extent of this island declined slowly with age. The rd16;Nrl-/- model also showed a relatively slow photoreceptor layer decline in thickness with ∼80% remaining at 3 months. The number of pseudorosettes also became reduced. By comparison to single mutant Nrl-/- mice, UV- and M-cone ERGs of rd16;Nrl-/- were at least 1 log unit reduced at 1 month of age and declined further over the 3 months of monitoring. Expression of GNAT2 and S-opsin also decreased with age. The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-LCA patients and the rd16;Nrl-/- murine model. Pre-clinical proof-of-concept studies for uniocular therapies would seem most appropriate to begin with intervention at P35-40 and re-study after one month by assaying interocular difference in the UV-cone ERG.

  12. Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

    Science.gov (United States)

    Roman, Alejandro J; Boye, Sanford L; Aleman, Tomas S; Pang, Ji-jing; McDowell, J Hugh; Boye, Shannon E; Cideciyan, Artur V; Jacobson, Samuel G; Hauswirth, William W

    2007-09-18

    Dramatic restoration of retinal function has followed subretinal viral-mediated gene therapy in RPE65-deficient animal models of human Leber congenital amaurosis (LCA) caused by RPE65 mutations. Progress in early-phase clinical trials of RPE65-LCA prompted us to begin development of an in vivo bioassay of clinical grade vector stability for later-phase trials. Naturally-occurring Rpe65-mutant rd12 mice (2-4 mo of age) were studied with full-field electroretinograms (ERGs). Flash stimuli (range, -4.1 to 3.6 log scot-cd x s x m(-2)) were used to evoke ERGs in anesthetized, dark-adapted mice. B-wave amplitudes were measured conventionally and luminance-response functions were fit. Leading edges of photoresponses were analyzed with a model of rod phototransduction activation. A unilateral subretinal injection of AAV2-CB(SB)-hRPE65 vector was delivered and therapeutic efficacy of 4 doses spanning a 2 log unit range was studied with ERGs performed about 6 weeks after injection. Uninjected rd12 eyes and wild-type (wt) mice served as controls. Rd12 mice showed substantially smaller amplitudes and lower sensitivities than wt mice for all measured ERG b-wave and photoresponse parameters. For the dose-response study, there was no difference between 0.01X-dosed mice and untreated mutants. Improved receptoral and post-receptoral function was evident for 0.1X, 0.3X, 1X doses: b-wave semi-saturation constants decreased, b-wave amplitudes increased with dose; photoresponses showed faster kinetics and higher maximum amplitudes. ERG b-wave amplitude to a selected stimulus light intensity could provide evidence of biologic activity of the vector; interocular differences in b-wave amplitude comparing treated versus untreated eyes in the same animal also revealed vector efficacy. We have taken the first steps toward developing an ERG assay of biologic activity of human grade vector for future clinical trials of RPE65-LCA. Faithful murine models of treatable human disease tested with

  13. Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy.

    Science.gov (United States)

    Weleber, Richard G; Pennesi, Mark E; Wilson, David J; Kaushal, Shalesh; Erker, Laura R; Jensen, Lauren; McBride, Maureen T; Flotte, Terence R; Humphries, Margaret; Calcedo, Roberto; Hauswirth, William W; Chulay, Jeffrey D; Stout, J Timothy

    2016-07-01

    To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations. Nonrandomized, multicenter clinical trial. Eight adults and 4 children, 6 to 39 years of age, with Leber congenital amaurosis (LCA) or severe early-childhood-onset retinal degeneration (SECORD). Patients received a subretinal injection of rAAV2-CB-hRPE65 in the poorer-seeing eye, at either of 2 dose levels, and were followed up for 2 years after treatment. The primary safety measures were ocular and nonocular adverse events. Exploratory efficacy measures included changes in best-corrected visual acuity (BCVA), static perimetry central 30° visual field hill of vision (V30) and total visual field hill of vision (VTOT), kinetic perimetry visual field area, and responses to a quality-of-life questionnaire. All patients tolerated subretinal injections and there were no treatment-related serious adverse events. Common adverse events were those associated with the surgical procedure and included subconjunctival hemorrhage in 8 patients and ocular hyperemia in 5 patients. In the treated eye, BCVA increased in 5 patients, V30 increased in 6 patients, VTOT increased in 5 patients, and kinetic visual field area improved in 3 patients. One subject showed a decrease in BCVA and 2 patients showed a decrease in kinetic visual field area. Treatment with rAAV2-CB-hRPE65 was not associated with serious adverse events, and improvement in 1 or more measures of visual function was observed in 9 of 12 patients. The greatest improvements in visual acuity were observed in younger patients with better baseline visual acuity. Evaluation of more patients and a longer duration of follow-up will be needed to determine the rate of uncommon or rare side effects or safety concerns. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  14. The Importance of Early Diagnosis and Treatment in Congenital Scoliosis

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    Safak Ekinci

    2011-08-01

    Full Text Available SUMMARY AIM: this study evaluates how early diagnosis of congenital scoliosis affects results and complication rates of of surgical treatment. METHOD: We have evaluated the efficiency and effectivity of modern posterior spinal instrumentation methods in congenital scoliosis cases who were diagnosed and treated in Gulhane Military Medical Academy Orthopaedics and Traumatology Department. We have evaluated 53 patients (13 male,29 female who were operated for congenital scoliosis between 1995 and 2009. Patients were divided into two groups according to the time of diagnosis to evaluate fusion levels, numbers of surgery, surgery methods, reduction rate, intraspinous and other system abnormalities and complications. RESULTS: 9 of 24 patients with diagnosis age before 5 and 11 of 29 patients with diagnosis age after 5 treated with single operation. Correction of main curve was %35.4 and compensatory curve was %13. Main curve correction of patients under 5 age was %36,3 and main curve correction of older group was %34,8 (p>0.05. Average number of fused levels in first group was 2,3±2,1 and in the older group 7,5±3,1. CONCLUSION: In patients before 5 age less invasive surgeries were needed to accomplish succesful treatment and early diagnosis of congenital scoliosis is the most important part of the treatment. KEY WORDS: Congenital ,Scoliosis, Posterior, Instrumentation [TAF Prev Med Bull 2011; 10(4.000: 441-446

  15. Prenatal diagnosis of congenital complete heart block.

    Science.gov (United States)

    Costa, Patrícia; Carriço, Ana; Ramalho, Carla; Matias, Alexandra; Monterroso, José; Areias, José Carlos

    2007-06-01

    Congenital complete heart block (CHB) is a conduction defect with an incidence in the general population of 1/15,000 to 1/22,000 live births. It is frequently associated with structural heart defects or maternal autoimmune disease. We describe a case of CHB associated with maternal systemic lupus erythematosus and review our previous cases and experience of CHB.

  16. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    Science.gov (United States)

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

  17. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  18. [Complex diagnosis of congenital cranial dysostosis in children].

    Science.gov (United States)

    Iakubov, R K; Azimov, M I

    2002-01-01

    Ten patients (aged 3-15 years) with congenital cranial dysostosis were examined by a pediatrician, geneticist, gastroenterologist, neuropathologist, ophthalmologist, endocrinologist, and orthopaedist. In addition to the clinical signs characteristic of hereditary multiple developmental defects, the study revealed changes in the jaws and temporomandibular joint and local factors promoting the progress of deformations of the jaws. Manifest and inapparent pathological changes and dysfunctions in gastrointestinal organs were paralleled by dysfunctions of the central and autonomic nervous systems, risk of maxillofacial and general deformations, and signs of congenital disorders in calcium, lactic acid, and pyridoxine metabolism. The results necessitate analyses of the blood and urine and development of new methods for the diagnosis of congenital cranial dysostosis and improvement of methods for the correction of this condition.

  19. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

    Science.gov (United States)

    Hauswirth, William W; Aleman, Tomas S; Kaushal, Shalesh; Cideciyan, Artur V; Schwartz, Sharon B; Wang, Lili; Conlon, Thomas J; Boye, Sanford L; Flotte, Terence R; Byrne, Barry J; Jacobson, Samuel G

    2008-10-01

    Leber congenital amaurosis (LCA) is a group of autosomal recessive blinding retinal diseases that are incurable. One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene. A recombinant adeno-associated virus serotype 2 (rAAV2) vector, altered to carry the human RPE65 gene (rAAV2-CBSB-hRPE65), restored vision in animal models with RPE65 deficiency. A clinical trial was designed to assess the safety of rAAV2-CBSB-hRPE65 in subjects with RPE65-LCA. Three young adults (ages 21-24 years) with RPE65-LCA received a uniocular subretinal injection of 5.96 x 10(10) vector genomes in 150 microl and were studied with follow-up examinations for 90 days. Ocular safety, the primary outcome, was assessed by clinical eye examination. Visual function was measured by visual acuity and dark-adapted full-field sensitivity testing (FST); central retinal structure was monitored by optical coherence tomography (OCT). Neither vector-related serious adverse events nor systemic toxicities were detected. Visual acuity was not significantly different from baseline; one patient showed retinal thinning at the fovea by OCT. All patients self-reported increased visual sensitivity in the study eye compared with their control eye, especially noticeable under reduced ambient light conditions. The dark-adapted FST results were compared between baseline and 30-90 days after treatment. For study eyes, sensitivity increases from mean baseline were highly significant (p gene therapy for RPE65-LCA that were carried out contemporaneously and reported.

  20. Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

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    Flavio Mantelli

    2015-01-01

    Full Text Available Neurotrophic keratitis (NK is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

  1. Congenital metabolic diseases: Diagnosis and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Wapnir, R.A.

    1985-01-01

    This book contains eight parts, each consisting of several papers. The part titles are: The Heritage of Sir Archibald Garrod; New Approaches to the Diagnosis and Treatment of Genetic Disease; Achievements, New Trends, and Policies in the Detection of Inborn Errors of Metabolism; Disorders of Amino Acid Metabolism; Diseases of Energy Metabolism; Problems of Abnormal Storage Diseases; Inherited Diseases of Membrane Transport and Receptors; and Inborn Errors of Purine Metabolism and Urea Synthesis.

  2. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Science.gov (United States)

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M

    1996-01-01

    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

  3. [SD-OCT contribution in congenital achromatopsia diagnosis (6 patients)].

    Science.gov (United States)

    Largueche, L; Chebil, A; Bouladi, M; Bouraoui, R; Kort, F; Charfi, H; El Matri, L

    2014-04-01

    Achromatopsia (ACH) is a congenital autosomal recessive cone disorder. The puspose is to describe particular SD-OCT macular images in ACH. The study included 6 patients from 3 consanguineous Tunisian families with congenital nystagmus and amblyopia with ACH. All patients had clinical examination with fundus photography, autofluorescence, 100-Hue Color vision and the appearance and thickness of all retinal layers were evaluated by spectral-domain optical coherence tomography (SD-OCT). All patients had ACH. The feature was loss of inner- and outer-segments (IS/OS) with disruption of the ciliary layer on OCT and an appearance of partial-thickness hole in the outer macular retina. This feature seems to be characteristic of ACH. SD-OCT correlated to clinic signs help the diagnosis. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

  5. DIAGNOSIS OF CONGENITAL CYTOMEGALOVIRUS INFECTION IN HIGH RISK NEONATES

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    Ehab abdelmoniem Albanna

    2013-07-01

    Full Text Available Objectives: This study aimed to compare polymerase chain reaction (PCR and IgM detection using enzyme linked immune-sorbent assay (ELISA in diagnosis of congenital cytomegalovirus (CMV infection.   Methods: This study was conducted from May 2009 to December 2010. Urine and blood samples were collected from 94 neonates with suspected congenital CMV infection. Serum and part of urine samples were stored at -20°C freezer, until the serologic and PCR tests were achieved. A 94 fresh urine samples were processed for cell culture. Nineteen (20.2% out of 94 urine samples were proven positive for CMV infection by viral culture. For comparing PCR and IgM ELISA we used tissue culture technique as a reference, the 19 positive samples on culture (CMV group and 20 negative samples (control group were included in the comparison. Some characteristics of CMV and control groups were compared including sex, age, birth weight, gestational age < 37 and small for gestational age. Clinical and laboratory abnormalities were also compared in both groups.   Results: This study showed that the sensitivity and specificity of PCR in relation to viral culture were 100% and 100% respectively, there was excellent agreement between both tests (Kappa coefficient was 1 and P=0.000. On the other hand, the sensitivity of IgM CMV ELISA in relation to viral culture was 63.2% and the specificity was 85%. There was good agreement between both tests (Kappa coefficient was 0.48 and P=0.002. By comparing CMV and control groups, there were high statistically significant differences between both groups as regard the birth weight, gestational age < 37 and small for gestational age items (P= 0.00, 0.03 and 0.01 respectively. There were statistically insignificant differences as regarding the clinical and laboratory abnormalities detected for neonates of both groups. In this study jaundice (63% and hepato-splenomegaly (42% were the most common clinical signs in both groups.   Conclusion

  6. [Computerized tomography in the diagnosis of congenital heart disease].

    Science.gov (United States)

    Makarenko, V N; Iurpol'skaia, L A

    2009-01-01

    The aim of the work was to evaluate the possibility to use CT techniques (SCT and MRT) for the diagnosis of congenital heart disease. A total of 426 patient aged 0-54 years were examined (171 by MRT and 255 by SCT. SCT of the heart with bolus injection of a contrast medium was performed on an Evolution C-150 superfast tomograph in the step-scanning regime and prospective synchronization with ECG (slice thickness 1.5-3 mm). Fasting SCT was used to examine children in the first year of life during quiet (unforced) breathing. Contrast material (Omnipack-300, 350; Visipack-270, 320) was administered at a dose of 1.5-2.0 ml/ kg b.w. at 0.2-0.6 ml/s. MRT was performed using a conventional MR tomograph with a 1 T field and pulsed spin-echo sequences synchronized with ECG for obtaining the anatomic picture and gradient echo-signals (cine-MRT) for the assessment of functional parameters (slice thickness 4-7 mm). Babies were examined under medicamentous sedation. All images were treated and analysed using an Advantage Windows 2.0 workstation and a program package for heart image analysis. A rational procedure of CT and image analysis was developed in the course of the study. It provided data on the formation of all segments and intercommunications of the heart, mutual localization of its cavities and major vessels, permitted to perform morphometry of selected cardiac structures and detect anatomic defects. The informative and diagnostic value of methods for comprehensive evaluation of the heart and mediastinum in patients with congenital heart disease was assessed. Methods of choice for the diagnosis of abnormalities and follow-up of the patients in different periods after surgery were identified.

  7. Leber congenital amaurosis: from darkness to spotlight.

    Science.gov (United States)

    Kaplan, Josseline

    2008-09-01

    Almost 150 years ago, Theodor Leber described a severe form of vision loss at or near birth which was later given his name. During the century that followed this description, ophthalmologists dedicated efforts to give an accurate definition of the disease but patients were neglected because of the inability of physicians to provide them with treatment. In the 90s, at the time of the Golden Age of Linkage, the first LCA locus was mapped to a human chromosome and shortly after identified as the gene for guanylate cyclase. This discovery was the spark that made the disease emerge from the shadows as illustrated by the flood of LCA genes identified in the following ten-year period. During the same time period, the clinical variability of the disease was rediscovered and an unexpected physiopathological heterogeneity demonstrated. In the beginning of the third millennium, LCA came out definitively from the tunnel to shine under the bright spotlights with the RPE65 gene therapy trial that succeeded to restore vision in a dog model and opened the door to gene therapy trials in humans.

  8. Congenital midureteric stricture: challenges in diagnosis and management.

    Science.gov (United States)

    Hamid, Raashid; Bhat, Nisar A; Rashid, Kumar Abdul

    2015-01-01

    Background. Congenital midureteric stricture (MUS) is a rare malformation. We report our experience with five cases seen over a period of 4 years from 2010 to 2014. Materials and Methods. The study was based on the retrospective analysis of five patients diagnosed as having MUS. Diagnosis was suspected after fetal ultrasonography (USG) in one patient and magnetic resonance urography (MRU) in four patients. Retrograde pyelography (RGP) was performed on three patients. The final diagnosis was confirmed during surgical exploration in all the patients. Results. MRU was found to be a good investigation method. It showed the site of obstruction in the ureter in all instances. Intravenous urography detected proximal ureteric dilatation present in two of the patients. RGP delineates the level of stricture and the course of ureter, as shown in our cases. All patients had significant obstruction on the affected side. Four patients underwent ureteroureterostomy, all of whom had satisfactory results. In one patient, ureteric reimplantation was carried out due to distal small ureteric caliber. Conclusion. This rare entity is often misdiagnosed initially as pelviureteric junction obstruction. MRU is an excellent option for the anatomical location and functional assessment of the involved system. At the time of surgical correction of a ureteral obstruction, RGP is a useful adjunct for delineating the stricture level and morphology.

  9. Congenital Midureteric Stricture: Challenges in Diagnosis and Management

    Directory of Open Access Journals (Sweden)

    Raashid Hamid

    2015-01-01

    Full Text Available Background. Congenital midureteric stricture (MUS is a rare malformation. We report our experience with five cases seen over a period of 4 years from 2010 to 2014. Materials and Methods. The study was based on the retrospective analysis of five patients diagnosed as having MUS. Diagnosis was suspected after fetal ultrasonography (USG in one patient and magnetic resonance urography (MRU in four patients. Retrograde pyelography (RGP was performed on three patients. The final diagnosis was confirmed during surgical exploration in all the patients. Results. MRU was found to be a good investigation method. It showed the site of obstruction in the ureter in all instances. Intravenous urography detected proximal ureteric dilatation present in two of the patients. RGP delineates the level of stricture and the course of ureter, as shown in our cases. All patients had significant obstruction on the affected side. Four patients underwent ureteroureterostomy, all of whom had satisfactory results. In one patient, ureteric reimplantation was carried out due to distal small ureteric caliber. Conclusion. This rare entity is often misdiagnosed initially as pelviureteric junction obstruction. MRU is an excellent option for the anatomical location and functional assessment of the involved system. At the time of surgical correction of a ureteral obstruction, RGP is a useful adjunct for delineating the stricture level and morphology.

  10. Updating Standard Procedures for Diagnosis and Treatment of Congenital Rubella Case

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    W. Buffolano

    2013-06-01

    Full Text Available Congenital Rubella is the dramatic consequence of rubella during gestation. A combined strategy of Measles and Rubella universal vaccination on children and selective vaccination of susceptible women has been shown effective in the elimination of congenital rubella requiring an incidence of <1 case of CRS per 100,000 live births. Verification processes of rubella elimination require that physicians early and appropriately diagnose all cases of congenital rubella, including those unpatent at birth. The paper highlights clinical and laboratory aspects channeling diagnosis of congenital rubella infection or syndrome even after the first year of life, and the short- and long-term management criteria.

  11. Prenatal Diagnosis and Pathology of Laryngeal Atresia in Congenital High Airway Obstruction Syndrome

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    Piya Chaemsaithong

    2012-01-01

    Full Text Available Congenital high airway obstruction syndrome is a rare but life-threatening condition. Therefore, prenatal diagnosis is important. The obstruction can be due to laryngeal/tracheal atresia or external compression. While a differential diagnosis with congenital cystic adenomatoid malformation (CCAM type III may be difficult, it is still possible with ultrasonography. In this study, we report a case of bilateral echogenic lungs with hydrops fetalis. After the prenatal diagnosis of laryngeal atresia, the couple opted to have an elective termination of pregnancy performed at 20 weeks of gestation. The diagnosis was confirmed by a complete pathological examination.

  12. Congenital vascular anomalies: current perspectives on diagnosis, classification, and management

    Directory of Open Access Journals (Sweden)

    Blei F

    2016-07-01

    Full Text Available Francine Blei,1 Mark E Bittman2 1Vascular Anomalies Program, Lenox Hill Hospital, Northwell Health, 2Department of Radiology, New York University Langone Medical Center, New York, NY, USA Abstract: The term "congenital vascular anomalies" encompasses those vascular lesions present at birth. Many of these lesions may be detected in utero. This review serves to apprise the readership of newly identified diagnoses and updated classification schemes. Attention is focused on clinical features, patterns of presentation, clinical manifestations and behavior, diagnostic tools, and treatment modalities. It is an invigorating period for this field, with a surge in vascular anomalies-related basic and clinical research, genetics, pharmacology, clinical trials, and patient advocacy. A large number of professional conferences now include vascular anomalies in the agenda, and trainees in multiple specialties are gaining expertise in this discipline. We begin with a summary of classification schemes and introduce the updated classification adopted by the International Society for the Study of Vascular Anomalies. Disease entities are described, with liberal use of photographs, as many diagnoses can be established based on a thorough history and visual appearance and it is thus essential to develop a familiarity with diagnosis-specific physical features. Peripheral (non-central nervous system vascular anomalies are the focus of this review. We focus on those entities in which diagnostic radiology is routinely used and accentuate when histologic confirmation is essential. We also underscore some differences in approach to the pediatric vs adolescent or adult patient. A list of Internet-based resources is included, with hyperlinks to informative sites. References are limited to seminal discoveries and review articles. We hope that our enthusiasm in writing this review will be shared by those who read this review. Keywords: vascular anomalies, hemangiomas, vascular

  13. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis

    Institute of Scientific and Technical Information of China (English)

    LI Hui; WEI Jun; MA Ying; SHANG Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close follow-up was given for normal fetal heart pregnancies and neconatal echocardiography was performed to check the accuracy of prenatal diagnosis. Results: (1) Forty-six cases(4.68%) were found to have fetal heart abnormalities in this study, 69.56% of them were diagnosed by single four-chamber view, another 30.43% fetal CHD were found by combining other views; (2) Fotry-one parents of prenatal fetuses with CHD chose to terminate pregnancy, thirty-two of them gave consent to conduct autopsy, 93.75% of which yielded unanimous conclusion between prenatal fetal echocardiography and autopsy; (3) Thirty-two of 46 cases underwent fetal chromosome analysis, 8 cases (25%) were found to have abnormal chromosome; (4) Five cases were found to have right ventricle and atrium a little bigger than those on the left side, with the unequal condition being the same after birth, but there were no clinical manifestations and they are healthy for the time being; (5) Nine hundred and thirty-six cases were not found with abnormality in this study, but one case was diagnosed with ventricular septal defect after birth, one case was diagnosed with patent ductus arteriosus, one case had atrial septal defect after birth. Conclusions: (1) The detected CHD rate was 4.68% by screening fetal heart with five transverse planes according to Yagel's description of high risk population basis for CHD. The coinciding rate of prenatal diagnosis and autopsy was 93.75%; (2) The sensitivity of detecting fetal heart

  14. Congenital neutropenia: diagnosis, molecular bases and patient management

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    Chantelot Christine

    2011-05-01

    Full Text Available Abstract The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe ( When neutropenia is detected, an attempt should be made to establish the etiology, distinguishing between acquired forms (the most frequent, including post viral neutropenia and auto immune neutropenia and congenital forms that may either be isolated or part of a complex genetic disease. Except for ethnic neutropenia, which is a frequent but mild congenital form, probably with polygenic inheritance, all other forms of congenital neutropenia are extremely rare and have monogenic inheritance, which may be X-linked or autosomal, recessive or dominant. About half the forms of congenital neutropenia with no extra-hematopoetic manifestations and normal adaptive immunity are due to neutrophil elastase (ELANE mutations. Some patients have severe permanent neutropenia and frequent infections early in life, while others have mild intermittent neutropenia. Congenital neutropenia may also be associated with a wide range of organ dysfunctions, as for example in Shwachman-Diamond syndrome (associated with pancreatic insufficiency and glycogen storage disease type Ib (associated with a glycogen storage syndrome. So far, the molecular bases of 12 neutropenic disorders have been identified. Treatment of severe chronic neutropenia should focus on prevention of infections. It includes antimicrobial prophylaxis, generally with trimethoprim-sulfamethoxazole, and also granulocyte-colony-stimulating factor (G-CSF. G-CSF has considerably improved these patients' outlook. It is usually well tolerated, but potential adverse effects include thrombocytopenia, glomerulonephritis, vasculitis and osteoporosis. Long-term treatment with G-CSF, especially at high doses, augments the spontaneous risk of leukemia in patients with congenital neutropenia.

  15. Abnormal facial appearance and delayed diagnosis of congenital hearing loss.

    Science.gov (United States)

    Crysdale, W S

    1978-08-01

    Congenital hearing loss occurs in association with cranio-facial anomalies. Lay people and health professionals as well frequently regard individuals with cranio-facial anomalies as "stupid" or of lower than normal intelligence because of their odd appearance. Two case reports illustrate that this erroneous assumption will result in the delayed detection of significant hearing loss.

  16. Prenatal diagnosis of congenital fetal heart abnormalities and clinical analysis*

    OpenAIRE

    Li,Hui; Wei, Jun; Ma, Ying; Shang, Tao

    2005-01-01

    Objective: To study the value of detecting fetal congenital heart disease (CHD) using the five transverse planes technique of fetal echocardiography. Methods: Nine hundred and eighty-two high-risk pregnancies for fetal CHD were included in this study, the fetal heart was scanned with the five transverse planes technique of fetal echocardiography described by Yagel, autopsy was conducted when pregnancy was terminated. Blood from fetal heart was collected for fetal chromosome analysis. A close ...

  17. "Congenital Sensory Neuropathy as a Differential Diagnosis for Phagocytic Immunodeficiency "

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    Mohammad Gharagozlou

    2006-03-01

    Full Text Available There are few reports about congenital indifference to pain or Hereditary and Sensory Autonomic Neuropathy (HSAN. Several investigations for pathophysiology of this syndrome have been performed and different classifications about it. In this report we present a case of HSAN type II with general absence of pain and self amputations and leprosy–like damage of extremities which was suspected to be phagocytic immunodeficiency due to past history of repeated ulcer and abscess formation.

  18. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    Energy Technology Data Exchange (ETDEWEB)

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-06-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders.

  19. Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... information about livebirths, fetal deaths with GA>/=20weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

  20. [Serological diagnosis of congenital infections and algorithms to improve diagnostic efficacy].

    Science.gov (United States)

    García-Bermejo, Isabel; de Ory-Manchón, Fernando

    2015-07-01

    Congenital infection is those transmitted by the mother to the fetus before delivery. It can occur transplacentally or by direct contact with the pathogen during birth or in the immediate postnatal period. Congenital infection can be due to viruses (rubella, cytomegalovirus, herpes simplex, varicella-zoster, hepatitis B and C virus, human inunodeficiencia, erythrovirus B19) as bacteria (Treponema pallidum) and parasites (Toxoplasma gondii and Trypanosoma cruzi). Serological diagnosis of congenital infection is based on both the knowledge of infectious serology in the mother, including the systematic serological screening and diagnostic aspects of the determination of IgM and confirmatory methods, IgG avidity tests, establishment of antibody profiles, and in the diagnosis the neonate. Serological diagnosis of congenital infection in the newborn is mainly based on the detection of specific IgM usually by immunoenzymatic assays or immunochemiluminescence techniques. In some instances it is important to perform the serological follow up of the newborn to confirm the congenital infection. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  1. Diagnosis of congenital hip dysplasia in the newborn.

    Science.gov (United States)

    Finne, Per Haavwardsholm; Dalen, Ingvild; Ikonomou, Nicolaos; Ulimoen, Geir; Hansen, Thor Willy Ruud

    2008-06-01

    Screening of newborn infants for congenital hip dysplasia may be done by clinical examination, ultrasound, or radiography--or a combination of these. Studies that have used clinical examination followed by ultrasound imaging for infants with certain risk factors have shown excellent results, but they were performed by very experienced practitioners. We wanted to find out whether the results of such screening would be equally good with less optimal staffing. Thus, we evaluated the real-life performance of a screening program for detection of congenital hip dysplasia in newborn infants. We performed a retrospective chart review of all infants (n = 1,983) referred for evaluation for suspected congenital hip dysplasia from one single obstetric hospital, where 19,820 infants had been screened from 1992 through 2001. Infants were referred either because of a positive finding during the Ortolani and Barlow examinations or because of the presence of risk factors. The reasons for referral of the 1,983 infants (10% of those examined) were: positive clinical signs in 255 (1.3% of all examined) and risk factors in 1,547 (7.8%), and a combination of both in 114 (0.6%). 67 other infants (0.3%) who had passed the initial pediatric screening were later referred from the local health centers. Finally, 23 of the 1,983 infants were subsequently referred again by their health center for renewed orthopedic evaluation. Of the infants who were treated (298/1,983 = 15% of those referred), those with a pathological examination result were represented proportionately more than infants who were referred because of risk factors (0.8% as opposed to 0.5%). Delayed diagnoses occurred in 1.7/1,000 infants. The performance of a screening protocol for congenital hip dysplasia in a real-life setting involving several physicians both on the pediatric and orthopedic side may not live up to expectations based on the use of such a protocol in an optimized setting. This type of analysis of screening data

  2. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

    Science.gov (United States)

    Guo, Yiran; Menezes, Minal J; Menezes, Manoj P; Liang, Jinlong; Li, Dong; Riley, Lisa G; Clarke, Nigel F; Andrews, P Ian; Tian, Lifeng; Webster, Richard; Wang, Fengxiang; Liu, Xuanzhu; Shen, Yulan; Thorburn, David R; Keating, Brendan J; Engel, Andrew; Hakonarson, Hakon; Christodoulou, John; Xu, Xun

    2015-03-01

    Clinical phenotypes of congenital myasthenic syndromes and primary mitochondrial disorders share significant overlap in their clinical presentations, leading to challenges in making the correct diagnosis. Next generation sequencing is transforming molecular diagnosis of inherited neuromuscular disorders by identifying novel disease genes and by identifying previously known genes in undiagnosed patients. This is evident in two patients who were initially suspected to have a mitochondrial myopathy, but in whom a clear diagnosis of congenital myasthenic syndromes was made through whole exome sequencing. In patient 1, whole exome sequencing revealed compound heterozygous mutations c.1228C > T (p.Arg410Trp) and c.679C > T (p.Arg227*) in collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ). In patient 2, in whom a deletion of exon 52 in Dystrophin gene was previously detected by multiplex ligation-dependent probe amplification, Sanger sequencing revealed an additional homozygous mutation c.1511_1513delCTT (p.Pro504Argfs*183) in docking protein7 (DOK7). These case reports highlight the need for careful diagnosis of clinically heterogeneous syndromes like congenital myasthenic syndromes, which are treatable, and for which delayed diagnosis is likely to have implications for patient health. The report also demonstrates that whole exome sequencing is an effective diagnostic tool in providing molecular diagnosis in patients with complex phenotypes.

  3. Ultrasound prenatal diagnosis of congenital primary aphakia: case report

    Science.gov (United States)

    Di Meglio, Filippo; Vascone, Carmine; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Valenti, Gaetano; Gulino, Ferdinando Antonio; Rapisarda, Agnese Maria Chiara; Cianci, Stefano

    2015-01-01

    Introduction the ultrasound prenatal diagnosis of aphakia is a difficult diagnosis and often requires a genetic study of the karyotype. Case report we present a rare case of prenatal bilateral aphakia, confirmed after bird. The patient was observed by ultrasound during the 23rd week of pregnancy. Through transabdominal ultrasound the lens could not be visualized bilaterally. The remaining anathomy, explorable by ultrasound, was still regular. When aphakia is suspected, genetic counseling is essential. Conclusion a differential diagnosis between aphakia and anophtalmia is necessary. A TORCH complex evaluation can be useful. Amniocentesis is always required. PMID:26918094

  4. [Lowe syndrome revealed by prenatal diagnosis of congenital cataract with brain abnormalities].

    Science.gov (United States)

    Zéphir, P; Decramer, S; Sartor, A; Vayssière, C

    2014-05-01

    Congenital cataract is a rare disease whose incidence is estimated to 0.5% of birth in France. A study of the literature shows that congenital cataract is idiopathic in 50% of cases, hereditary forms representing 25% of cases. Other causes of congenital cataract are represented by viral embryofoetopathies acquired during pregnancy, metabolic disorders and chromosomal aberrations within the scope of malformative syndromes. The authors report the case of a neonatal diagnosis of Lowe syndrome suspected by the discovery of bilateral cataract initially isolated. The morphological exploration was completed by secondary brain abnormalities (periventricular lesions). The etiological prenatal exploration was negative. Lowe syndrome is a rare cause of antenatal cataract, which so far only one case has been reported.

  5. CRITERIA FOR LABORATORY DIAGNOSIS OF VARIOUS FORMS EARLY CONGENITAL SYPHILIS

    Directory of Open Access Journals (Sweden)

    G. P. Martynova

    2014-01-01

    Full Text Available The results of clinical and laboratory (blood count and serological monitoring of 156 children with various forms of early congenital syphilis in the initial period and the dynamics on the background of specific therapy. Violations in haemogram characterized hypochromic anemia, thrombocytopenia, leukocytosis, neytrofillezom stab shift with a sharP increase in ESR, which prevailed among the most children with the disease over polisimptomnym and significantly exceeded the level of the norm even after specific therapy. For serological examination in 84.62 % cases registered positive results in microprecipitation reaction (RMR to 56.52% — IgM, and 97.83% — IgG reaction Enzymeimmuno assay (EIA and 100 % — Treponema pallidum hemagglutination assay (ТРHА. On the background of specific therapy indicated positive results in the growth of bladder cancer (85.19 %, in the formulation of IgM EIA (72.22 % and IgG (100%, thus, recorded a decline titer positivity serological RMR 2 times , IgM EIA reaction 12 times with simultaneous increase IgG positivity 4 times and 2 times in the ТРHА in the formulation of these reactions in the dynamics.

  6. Congenital hyperinsulinism: current trends in diagnosis and therapy

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    Bellanné-Chantelot Christine

    2011-10-01

    Full Text Available Abstract Congenital hyperinsulinism (HI is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes of hyperinsulinemic hypoglycemia may expose to high risk of brain damage. Hypoglycemias are diagnosed because of seizures, a faint, or any other neurological symptom, in the neonatal period or later, usually within the first two years of life. After the neonatal period, the patient can present the typical clinical features of a hypoglycemia: pallor, sweat and tachycardia. HI is a heterogeneous disorder with two main clinically indistinguishable histopathological lesions: diffuse and focal. Atypical lesions are under characterization. Recessive ABCC8 mutations (encoding SUR1, subunit of a potassium channel and, more rarely, recessive KCNJ11 (encoding Kir6.2, subunit of the same potassium channel mutations, are responsible for most severe diazoxide-unresponsive HI. Focal HI, also diazoxide-unresponsive, is due to the combination of a paternally-inherited ABCC8 or KCNJ11 mutation and a paternal isodisomy of the 11p15 region, which is specific to the islets cells within the focal lesion. Genetics and 18F-fluoro-L-DOPA positron emission tomography (PET help to diagnose diffuse or focal forms of HI. Hypoglycemias must be rapidly and intensively treated to prevent severe and irreversible brain damage. This includes a glucose load and/or a glucagon injection, at the time of hypoglycemia, to correct it. Then a treatment to prevent the recurrence of hypoglycemia must be set, which may include frequent and glucose-enriched feeding, diazoxide and octreotide. When medical and dietary therapies are ineffective, or when a focal HI is suspected, surgical treatment is required. Focal HI may be definitively cured when the partial pancreatectomy removes the whole lesion. By

  7. Place of Interferon-γ Assay for Diagnosis of Congenital Toxoplasmosis.

    Science.gov (United States)

    Chapey, Emmanuelle; Wallon, Martine; L'Ollivier, Coralie; Piarroux, Renaud; Peyron, François

    2015-12-01

    The diagnosis of congenital toxoplasmosis relies mainly on serology. When results are doubtful, pediatricians have difficulties with respect to treatment. We report interferon-γ responses after the stimulation of blood by Toxoplasma gondii antigen in 17 infected infants and 80 infants free of infection. Sensitivity and specificity were 93.75% (95% confidence interval: 67%-99%) and 98.75% (95% confidence interval: 92%-99%), respectively.

  8. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    OpenAIRE

    Cornelia Tennstedt; Kathrin Sunkel-Wehrstedt; Martin Vogel; Peter Hufnagl

    2000-01-01

    Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the...

  9. INTELLECTUAL AND ACADEMIC PERFORMANCE OF CHILDREN WITH CONGENITAL HYPOTHYROIDISM IN RELATION TO TIME OF DIAGNOSIS

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    Madhava Vijaya Kumar

    2016-12-01

    Full Text Available BACKGROUND Context- Congenital hypothyroidism is an important cause of preventable mental retardation in children. Since, neonatal screening is not done routinely in India, many cases are diagnosed late. Earlier, the diagnosis and initiation of treatment, better will be the outcome. The aim of the study is to assess the effect of time of onset of treatment in intellectual and scholastic performances in children with congenital hypothyroidism. MATERIALS AND METHODS Children were classified into 3 groups. Group 1 were diagnosed and treatment initiated within one month of birth. Group 2, between 1 and 6 months and group 3 after 6 months. General intelligence and IQ were assessed by Malin’s intelligence scale for Indian children. Scholastic performance were evaluated by academic evaluation scale for slow learners and ADHD were diagnosed by DSM-IV criteria. Settings and Design- The study was done in the Paediatric Endocrinology Clinic of Institute of Maternal and Child Health, Department of Paediatrics, Government Medical College, Kozhikode. Study population included children of age group 6-9 years with congenital hypothyroidism. Statistical Methods Used- Statistical analysis was done with SPSS software version 16. The statistical analysis was done by ANOVA test. RESULTS IQ and intellectual outcomes were better in group 1 where treatment was initiated within one month. Similarly, poor academic abilities and increased incidence of ADHD were noted in children in whom diagnosis was made late. CONCLUSION Later the diagnosis more will be the intellectual and scholastic backwardness in children underscoring the importance of universal newborn screening.

  10. Diagnosis and Surgical Treatment of Congenital Cor Triatrium

    Institute of Scientific and Technical Information of China (English)

    计乐群; 沈宗林; 谭敏; 王志伟

    2002-01-01

    Objectives To evalu-ate the outcome of diagnosis and surgical treatment forcor triatrium (CTA) in 6 patients seen between 1994and 2002. Methods 6 patients ranging in age from 5months to 25 years were observed. All of them hadother cardiovascular defects, and presented with dysp-nea, palpitations (and low weight growing only in theinfants) . Preopreative two dimensional echocardiogra-phy had demonstrated an abnormal septum in the leftatrium and other coexistent anomalies. In 3 of them themembrane was obstructed between the left atrial ac-cessory chamber and the left atrium. The communica-tion were atrial septal defect (ASD) indirectly; Theclinical findings were due to the pulmonary hypervas-cularity. Only one case had a fenestration in the septumwith a small patent foramen ovale (FO) directly , andthe clinical findings were due to the obstruction to flowthrough the membrane in the left atrium, producingvenocapilar pulmonary hypertension. Two of them hadASD and fenestration on the septum. The other coex-istent cardiovascular anomalies were found: 1 hadpartial atrioventricular septal defect (PASD), persis-tent left superior vena cava ( LSVC ) and unroofedcoronary sinus; 1 had Tetralogy of Fallot. (TF). All thecardiovascular defects were confirmed in the opera-tions. Results All the cases underwent the opera-tions through a right atriotomy for completed excision ofthe membrane between the left atrial accessory chamberand left atrium and correction of other anomalies.Postoperative courses were uneventful. No residualobstruction in the left atrium was found before patientswere discharged from the hospital. All of the patientswere followed up for a mean period of 6.5 years(range 0.5 to 8 years) . The clinical symptoms dis-appeared and the patients remained symptom free.Conclusions Echocardiography is of great value inthe diagnosis of the disease preoperatively. Completeexcision of the abnormal septum and proper correctionof the other coexistent cardiovascular anomalies

  11. Early diagnosis of congenital Trypanosoma cruzi infection, using shed acute phase antigen, in Ushuaia, Tierra del Fuego, Argentina.

    Science.gov (United States)

    Mallimaci, María Cristina; Sosa-Estani, Sergio; Russomando, Graciela; Sanchez, Zunilda; Sijvarger, Carina; Alvarez, Isabel Marcela; Barrionuevo, Lola; Lopez, Carlos; Segura, Elsa Leonor

    2010-01-01

    Chagas' disease, or American trypanosomiasis, is caused by the protozoan parasite Trypanasoma cruzi. It is estimated that 15,000 new cases of congenital T. cruzi transmission occur in the Americas each year. The aim of this study was to estimate the rate of congenital T. cruzi infection in infants born to infected women living in Ushuaia, Argentina, as well to assess a serologic test using Shed Acute Phase Antigen (SAPA) for a timely diagnosis of congenital infection. The rate of congenital infection among children in the study was 4.4% (3/68). Our results show that for infants younger than 30 days of age, matched blood samples from mother and infant were capable of identifying congenital transmission of infection using an enzyme-linked immunosorbent assay with SAPA. For infants older than 3 months, congenital infection could be ruled out using the same procedure.

  12. Contribution of neonatal amniotic fluid testing to diagnosis of congenital toxoplasmosis.

    Science.gov (United States)

    Filisetti, Denis; Yera, Hélène; Villard, Odile; Escande, Benoît; Wafo, Estelle; Houfflin-Debarge, Véronique; Delhaes, Laurence; Bastien, Patrick

    2015-05-01

    We evaluated the molecular diagnosis of congenital toxoplasmosis (CT) on neonatal amniotic fluid samples from 488 mother-child pairs. Maternal infection during pregnancy was diagnosed and dated or could not be ruled out. Forty-six cases of CT were defined according to the European Research Network on CT classification system and case definitions. Neonatal amniotic fluid testing had an overall sensitivity of 54% (95% confidence interval [95% CI], 39 to 69%) and a specificity of 100% (95% CI, 99 to 100%). Its sensitivity was 33% (95% CI, 13 to 59%) when antenatal diagnosis was positive and 68% (95% CI, 48 to 84%) when antenatal diagnosis was negative or lacking. This difference in sensitivity may have been due to treatment of antenatally diagnosed cases. Relative to postnatal serology, neonatal amniotic fluid testing allowed an earlier diagnosis to be made in 26% of the cases (95% CI, 9 to 51%).

  13. Diagnosis and treatment of Congenital choledochal cyst:20 years'experience in China

    Institute of Scientific and Technical Information of China (English)

    Liu-BJn Shi; Shu-You Peng; Xing-Kai Meng; Cheng-Hong Peng; Ying-Bin Liu; Xiao-Peng Cheni; Zhen-Ling Ji; De-Tong Yang; Huai-Ren Chen

    2001-01-01

    AIM To summarize the experience of diagnosis and treatment of congenital choledochal cyst in the past 20years ( 1980 2000).``METHODS The clinical data of 108 patients admitted from 1980 to 2000 were analyzed retrospectively.RESULTS Abdominal pain, jaundice and abdominal mass were presented in most child cases. Clinical symptoms in adult cases were non-specific, resulting in delayed diagnosis frequently. Fifty-seven patients (52.7%) had coexistent pancreatiobiliary disease. Carcinoma of the biliary duct occurred in 18 patients (16.6%). Ultrasonic examination was undertaken in 94 cases, ERCP performed in 46 cases and CT in 71 cases. All of the cases were correctly diagnosed before operation. Abnormal pancreatobiliary duct junction was found in .39 patients.Before 1985 the diagnosis and classification of congenital choledochal cyst were established by ultrasonography preoperatively and confirmed during operation, the main procedures were internal drainage by cyst enterostomy.After 1985, the diagnosis was established by ERCP and CT. and cystectomy with Roux-en-Y hepaticojejunostomy was the conventional procedures. In 1994, we reported a new and simplified operative procedure in order to reduce the risk of choledochal cyst malignancy. Postoperative complication was mainly retrograde infection of biliary tract, which could be controlled by the administration of antibiotics, there was no perioperative mortality.``CONCLUSION The concept in diagnosis and treatment of congenital choledochal cyst has obviously been changed greatly. CT and ERCP were of great help in the classification of the disease. Currently, cystectomy with Roux-en-Y hepaticojejunostomy is strongly recommended as the choice for patients with type I and type Ⅳ cysts.Piggyback orthotopic liver transplantation is indicated in type \\ cysts (Carolis disease) with frequently recurrent cholangitis.``

  14. Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces

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    C. Gils

    2016-01-01

    Full Text Available Background. Congenital chloride diarrhea (CCD is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. The CCD diagnosis is based on the clinical symptoms and measurement of high chloride concentration in feces (>90 mmol/L and is confirmed by DNA testing. Untreated CCD is lethal, while long-term clinical outcome improves when treated correctly. Case Presentation. A 27-year-old woman had an emergency caesarian due to pain and discomfort in gestational week 36 + 4. The newborn boy had abdominal distension and yellow fluid per rectum. Therapy with intravenous glucose and sodium chloride decreased his stool frequency and improved his clinical condition. A suspicion of congenital chloride diarrhea was strongly supported using blood gas analyzer to measure an increased chloride concentration in the feces; the diagnosis was confirmed by DNA testing. Discussion. Measurement of chloride in feces using an ordinary blood gas analyzer can serve as a preliminary analysis when congenital chloride diarrhea is suspected. This measurement can be easily performed with a watery feces composition. An easy-accessible chloride measurement available will facilitate the diagnostics and support the initial treatment if CCD is suspected.

  15. Congenital infantile fibromatosis of the cheek: report of a rare case and differential diagnosis.

    Science.gov (United States)

    Pontes, H A R; Pontes, F S C; e Silva, B T C; Kato, A M B; de Freitas Silva, B S

    2011-11-01

    Infantile fibromatosis is a benign tumour that consists of dense masses of fibroblasts and myofibroblasts with marked collagen production. Although it is a nonmetastasising tumour, it has significant potential for local invasion and recurrence and may be fatal because of its size and location. The authors report an unusual case of infantile fibromatosis of the cheek in an 8-month-old boy, present since birth. The patient underwent surgical treatment with tumour-free margins and the 6-month follow-up revealed no signs of recurrence. Infantile fibromatosis of the cheek is a very rare condition at this location, especially congenital cases. It should be considered in the differential diagnosis of congenital lesions in childhood. Copyright © 2011 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

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    Uluç Yis

    2016-01-01

    Full Text Available Megaconial congenital muscular dystrophy (OMIM 602541 is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500 U/L. For genetic work-up, we performed whole exome sequencing (WES after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (CHKB gene c.1031G>A (p.R344Q in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.

  17. Evaluation of the Western blotting method for the diagnosis of congenital toxoplasmosis,

    Directory of Open Access Journals (Sweden)

    Jaqueline Dario Capobiango

    Full Text Available Abstract Objective: To evaluate the Western blotting method for the detection of IgG anti-Toxoplasma gondii (T. gondii (IgG-WB in the serum of children with suspected congenital toxoplasmosis. Methods: We accompanied 47 mothers with acquired toxoplasmosis in pregnancy and their children, between June of 2011 and June of 2014. The IgG-WB was done in house and the test was considered positive if the child had antibodies that recognized at least one band on IgG blots different from the mother's or with greater intensity than the corresponding maternal band, during the first three months of life. Results: 15 children (15.1% met the criteria for congenital toxoplasmosis and 32 (32.3% had the diagnosis excluded. The symptoms were observed in 12 (80.0% children and the most frequent were cerebral calcification in 9 (60.0%, chorioretinitis in 8 (53.3%, and hydrocephalus in 4 (26.6%. IgM antibodies anti-T. gondii detected by chemiluminescence (CL were found in 6 (40.0% children and the polymerase chain reaction (PCR for detection of T. gondii DNA was positive in 5 of 7 performed (71.4%. The sensitivity of IgG-WB was of 60.0% [95% confidence interval (CI 32.3-83.7%] and specificity 43.7% (95% CI 26.7-62.3%. The sensitivity of IgG-WB increased to 76.0 and 89.1% when associated to the research of IgM anti-T. gondii or PCR, respectively. Conclusions: The IgG-WB showed greater sensitivity than the detection of IgM anti-T. gondii; therefore, it can be used for the diagnosis of congenital toxoplasmosis in association with other congenital infection markers.

  18. Value of computer tomography in the diagnosis of congenital spinal malformations particulary diastematomyelia

    Energy Technology Data Exchange (ETDEWEB)

    Claussen, C.; Banniza von Bazan, U.; Jaschke, W.; Schilling, V.

    1980-11-01

    The value of computer tomography (CT) in the diagnosis of diastematomyelis (DM) was studied in our own clinical material. Thirty-one patients with congenital spinal anomalies were examined; in 21 a DM could be demonstrated. CT has two major advantages in the radiological investigation of spinal abnormalities, such as spinal dysraphism and DM: 1. Cross sections of the spinal canal can be obtained without overlying opacities and 2. the demonstration of intraspinal soft tissues structures, corresponding to their attenuation characteristics and the relative differences in absorption of the X-rays.

  19. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    Science.gov (United States)

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  20. A CASE OF CONGENITAL LOBAR EMPHYSEMA: CHALLENGES IN DIAGNOSIS AND IN ANAESTHETIC MANAGEMENT

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    Swati Bisht

    2015-01-01

    Full Text Available Congenital lobar emphysema (CLE is a rare clinical entity presenting as acute respiratory distress in infants. Its diagnosis is difficult as clinically and radio logically it mimics pneumonia or pneumothorax. Its early recognition and management with thoracotomy is lifesa ving. Inhalation induction is preferred and spontaneous ventilation should be maintained until either the chest is opened or one lung ventilation of the contralateral lung is achieved. In this case report, we describe the challenges faced in the anaestheti c management of this condition

  1. Prenatal diagnosis of congenital rubella infection in São Paulo

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    Suely Pires Curti

    2014-10-01

    Full Text Available Objective: rubella during the early stages of pregnancy can lead to severe birth defects known as congenital rubella syndrome (CRS. Samples collected from pregnant women with symptoms and suspected of congenital rubella infection between 1996 and 2008 were analyzed. Methods: a total of 23 amniotic fluid samples, 16 fetal blood samples, 1 product of conception and 1 placenta were analyzed by serology and RT-PCR. Results: all patients presented positive serology for IgG / IgM antibodies to rubella virus. Among neonates, 16 were IgG-positive, 9 were IgM-positive and 4 were negative for both antibodies. Of the 25 samples analyzed in this study, 24 were positive by RT-PCR. Changes in ultrasound were found in 15 (60% of 25 fetuses infected with rubella virus. Fetal death and miscarriage were reported in 10 (40% of the 25 cases analyzed. The rubella virus was amplified by PCR in all fetuses with abnormal ultrasound compatible with rubella. Fetal death and abortion were reported in 10 of 25 cases analyzed. Conclusion: this study, based on primary maternal rubella infection definitely confirms the good sensitivity and specificity of RT-PCR using amniotic fluid and ultrasound. The results showed that molecular assays are important tools in the early diagnosis of rubella and congenital rubella syndrome.

  2. Assessment of laboratory methods used in the diagnosis of congenital toxoplasmosis after maternal treatment with spiramycin in pregnancy

    OpenAIRE

    2014-01-01

    Background The different laboratory methods used in the diagnosis of congenital toxoplasmosis have variable sensitivity and specificity. There is no evidence to prove that maternal treatment reduces the risk of fetal infection. The purpose of this study was to assess methods for the confirmation of congenital toxoplasmosis after maternal treatment with spiramycin during pregnancy, and to evaluate the effect of this treatment on clinical manifestations of the disease in newborns (NB). Methods ...

  3. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012.

    Science.gov (United States)

    Rosselli, Pablo; Nossa, Sergio; Huérfano, Elina; Betancur, Germán; Guzmán, Yuli; Castellanos, Cristal; Morcuende, Jose

    2015-01-01

    Congenital Talipes Equinovarus (CTEV) or clubfoot is one of the most common congenital abnormalities(1,2). Early diagnosis by means of ultrasonography allows an opportune intervention and improves the deformity's correction prognosis. To describe patients diagnosed with CTEV by means of prenatal sonographies between 2003 and 2012 in Bogotá (Colombia) at both the Institute de Ortopedia Infantil Roosevelt (IOIR) and one of the authors' private office. A descriptive, retrospective study on the focus population was made. The equality of the data of the quantitative variables in distance measure was analysed by the Kolmogorov-Smirnov test. For the variables "prenatal diagnoses" and "days from the start of the treatment" the Mann-Whitney U test was used. Finally, an analysis was made by means of the SPSS Statistics software package, version 18.0. 178 patients met the selection criteria. 34.3% of the patients had a prenatal diagnosis by ultrasonography (n=61). Regarding the number of prenatal ultrasounds performed, there were statistically significant differences between the patients with a CTEV prenatal diagnoses and those whose diagnoses came after birth, being higher in the first group (p<0.001). The number of days before the treatment started once the pre or postnatal diagnosis was done was also a subject of study. Significant differences were found in the treatment start between patients with a prenatal diagnosis (mean of 9.9 days) and those diagnosed after birth (mean of 30 days) (p<0.001). prenatal diagnosis by foetal ultrasonography contributes to an early detection of musculoskeletal abnormalities such as CTEV and promotes an early intervention of the patient.

  4. Congenital Horner′s syndrome and the usefulness of the apraclonidine test in its diagnosis

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    Mirzai Hasan

    2006-01-01

    Full Text Available We present a seven-month-old baby with miosis of the left pupil, left hypochromia, mild ipsilateral ptosis, left hemifacial anhidrosis and asymmetrical facial flushing. A diagnosis of Horner′s syndrome (HS was presumed and was confirmed by instillation of apraclonidine eye drops. Miosis was reversed upon apraclonidine instillation. Magnetic resonance imaging of the head, neck and thorax and ultrasonography of the neck and abdomen did not reveal any pathological conditions. Although delivery-related brachial plexus injury is known as the most common cause of congenital HS, it should be investigated and should include neuroimaging of the sympathetic pathway, to exclude a serious underlying disease. As in our case, a specific etiology may not always be elicited. Pharmacological testing with apraclonidine may be a practical alternative to cocaine in the diagnosis of HS.

  5. Application of magnetic resonance urography in diagnosis of congenital urogenital anomalies in children.

    Science.gov (United States)

    Payabvash, Seyedmehdi; Kajbafzadeh, Abdol-Mohammad; Saeedi, Parisa; Sadeghi, Zhina; Elmi, Azadeh; Mehdizadeh, Mehrzad

    2008-09-01

    Magnetic resonance urography (MRU) has become a useful adjuvant in evaluating urogenital anomalies. In present study, we evaluated the ability of MRU in diagnosis of different congenital urogenital anomalies when the results of conventional imaging modalities were inconclusive. A total of 90 children were included in this series. The children were evaluated with T2-weighted and contrast-enhanced T1-weighted MRU sequences. The results were compared with findings obtained with ultrasonography, intravenous urography, renal nuclide scan, and voiding cystourethrography. MRU was requested in these children because conventional imaging modalities were equivocal or a co-existing urogenital anomaly was suspected. Only those cases that underwent surgery were included in this study and the surgical findings were set as the reference standard in statistical evaluation. The records of 61 boys with mean (range) age of 2.3 years (2 months-12 years) and 29 girls with mean (range) age of 3.3 years (3 months-12 years) were reviewed. The final diagnosis was ureteropelvic junction obstruction (n = 25), vesicoureteral junction obstruction (n = 16), ureterocele (n = 19), ectopic kidney (n = 11), posterior urethral valve (n = 17), and polycystic kidney (n = 2). The overall sensitivity of MRU, intravenous urography, renal nuclide scan, ultrasonography, and voiding cystourethrography in diagnosis of the aforementioned anomalies were 86, 63, 50, 44, and 41%, respectively. MRU was much more sensitive than other imaging modalities in diagnosis of end-ureteral dilation (100%) and ureterocele (89%). MRU provides a reliable noninvasive technique for imaging of the congenital anomalies in the urinary tract of children with T2-weighted MRU sequences providing unenhanced static-water images of the urinary tract as well as depicting adjacent soft-tissue lesions, and T1-weighted MRU technique imitating conventional intravenous urography. Both MRU sequences can be combined for a comprehensive

  6. Prenatal Diagnosis and Management for Congenital Intrapericardial Diaphragmatic Hernia with Massive Cardiac Effusion: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ching-Chang Hsieh

    2015-03-01

    Full Text Available Congenital intrapericardial diaphragmatic hernia with massive pericardial effusion is a rare type of Morgagni hernia. Since 1980, there have been only 16 reported cases. We report on the imaging features of such a case that was diagnosed in utero. The prognosis of congenital intrapericardial diaphragmatic hernia is better than the other types of congenital diaphragmatic hernia, but lung hypoplasia due to compression by the pericardial effusion is not uncommon. Early intervention and treatment should be given to improve the perinatal outcome once the prenatal diagnosis has been made. We have summarized current diagnostic methods and management for this rare phenotype, after reviewing previous case reports and articles relating to the intervention for congenital diaphragmatic hernia.

  7. Quantitative criteria for the diagnosis of the congenital absence of pericardium by cardiac magnetic resonance.

    Science.gov (United States)

    Macaione, F; Barison, A; Pescetelli, I; Pali, F; Pizzino, F; Terrizzi, A; Di Lisi, D; Novo, G; Todiere, G; Assennato, P; Novo, S; Aquaro, G D

    2016-03-01

    Congenital absence of the left ventricular pericardium (LCAP) is a rare and poorly known cardiac malformation. Cardiac Magnetic Resonance (CMR) is generally used for the diagnosis of LCAP because of its high soft tissue contrast, multiplanarity and cine capability, but the diagnosis is usually made by only qualitative criteria. The aim of the present study was to establish quantitative criteria for the accurate diagnosis of LCAP on CMR. We enrolled nine consecutive patients affected by LCAP (mean age 26±8years, 7 males), 13 healthy controls, 13 patients with dilated cardiomyopathy (DCM), 12 patients with hypertrophic cardiomyopathy (HCM) and 13 patients with right ventricular overload (RVO). All patients underwent CMR. The whole-heart volume was measured in end-systole and end-diastole. Whole-heart volume change (WHVC), was the systo-diastolic change of volume, expressed percentage of the end-diastolic volume. The angle of clockwise-rotation of the heart was also measured in the end-diastolic phase of the axial cine stack. The WHVC was significantly higher in LCAP (21.9±5.4), compared to healthy subjects (8.6±2.4, p13%. In LCAP the systo-diastolic WHVC was significantly higher than controls, DCM, HCM and RVO patients and resulted an optimal quantitative criteria for the diagnosis of LCAP. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  8. Bilateral amaurosis caused by Salmonella enteritidis infection.

    Science.gov (United States)

    Cerovski, Branimir; Barisić, Nina; Vidović, Tomislav; Petricek, Igor; Cerovski, Jasenka

    2004-12-01

    The aim of this paper was to show the potential of Salmonella enteritidis infection to eventually result in visual impairment. A case of salmonellosis in a 6-year-old boy, caused by intake of a cake made from eggs infected with Salmonella enteritidis, is presented. Prolonged duration of the disease was followed by complete remission of neurologic complications and persistent amaurosis with bilateral optic nerve atrophy. A severe form of Salmonella enterocolitis with neurologic involvement can lead to optic nerve lesion with consequential loss of vision.

  9. Three-dimensional echocardiographic virtual endoscopy for the diagnosis of congenital heart disease in children.

    Science.gov (United States)

    Xue, Haihong; Sun, Kun; Yu, Jianguo; Chen, Binjin; Chen, Guozhen; Hong, Wenjing; Yao, Liping; Wu, Lanping

    2010-12-01

    Virtual endoscopy (VE) is a new post-processing method that uses volumetric data sets to simulate the tracks of a "conventional" flexible endoscope. However, almost all studies of this method have involved virtual visualizations of the cardiovascular structures applied to computed tomography (CT) and magnetic resonance (MR) datasets. This paper introduces a novel visualization method called the "three-dimensional echocardiographic intracardiac endoscopic simulation system (3DE IESS)", which uses 3D echocardiographic images in a virtual reality (VR) environment to diagnose congenital heart disease. The aim of this study was to analyze the feasibility of VE in the evaluation of congenital heart disease in children and its accuracy compared with 2DE. Three experienced pediatric cardiologists blinded to the patients' diagnoses separately reviewed 40 two-dimensional echocardiographic (2DE) datasets and 40 corresponding VE datasets and judged whether abnormal intracardiac anatomy was present in terms of a five-point scale (1 = definitely absent; 2 = probably absent; 3 = cannot be determined; 4 = probably present; and 5 = definitely present). Compared with clinical diagnosis, the diagnostic accuracy of VE was 98.7% for ASD, 92.4% for VSD, 92.6% for TOF, and 94% for DORV, respectively. Diagnostic accuracy of VE was significantly higher than that of 2DE for TOF and DORV except for ASD and VSD. The receiver operating characteristic (ROC) curve for VE was closer to the optimal performance point than was the ROC curve for 2DE. The area under the ROC curve was 0.96 for VE and 0.93 for 2DE. Kappa values (range, 0.73-0.79) for VE and 2DE indicated substantial agreement. 3D echocardiographic VE can enhance our understanding of intracardiac structures and facilitate the evaluation of congenital heart disease.

  10. Congenital cystic adenomatoid malformation: impact of prenatal diagnosis and changing strategies in the treatment of the asymptomatic patient.

    Science.gov (United States)

    Marshall, K W; Blane, C E; Teitelbaum, D H; van Leeuwen, K

    2000-12-01

    This study was designed to assess the effect of prenatal sonographic diagnosis on the treatment of congenital cystic adenomatoid malformation of the lung. The medical records of 27 patients with pathologically proven congenital cystic adenomatoid malformations were retrospectively reviewed. Patients were divided into four groups based on mode of presentation: with or without abnormal findings on prenatal sonography and with or without symptoms at birth. Age at diagnosis, age at surgical intervention, complications, and length of hospital stay were recorded for each group. Twenty-seven patients with 31 proven congenital cystic adenomatoid malformations were included. Eleven patients underwent prenatal sonography establishing the diagnosis (6 asymptomatic at birth, 5 symptomatic), and 16 did not have a prenatal diagnosis (10 asymptomatic at birth, 6 symptomatic). In the symptomatic populations, prenatal diagnosis had no impact on age at surgery, length of stay, or surgical complication rate (p = 0.78-0.83). In the asymptomatic population, prenatal diagnosis allowed early diagnosis (p < 0.001) and resection in the asymptomatic period. It was also associated with a shorter length of stay at the time of surgical resection (mean time, 4.2 days for patients with prenatal diagnosis versus 12.9 days for those without it;p < 0.001) and with a trend toward lower serious complication rate (3 patients without prenatal diagnosis versus 1 patient with it). Prenatal sonography provides the radiologist a means to identify congenital cystic adenomatoid malformations in a population of infants who are asymptomatic at birth. Surgical intervention in the asymptomatic infant is associated with a shorter length of stay, a trend toward fewer complications, and decreased medical cost compared with intervening after symptoms develop.

  11. Common Patterns of Congenital Lower Extremity Shortening: Diagnosis, Classification, and Follow-up.

    Science.gov (United States)

    Bedoya, Maria A; Chauvin, Nancy A; Jaramillo, Diego; Davidson, Richard; Horn, B David; Ho-Fung, Victor

    2015-01-01

    Congenital lower limb shortening is a group of relatively rare, heterogeneous disorders. Proximal focal femoral deficiency (PFFD) and fibular hemimelia (FH) are the most common pathologic entities in this disease spectrum. PFFD is characterized by variable degrees of shortening or absence of the femoral head, with associated dysplasia of the acetabulum and femoral shaft. FH ranges from mild hypoplasia to complete absence of the fibula with variable shortening of the tibia. The development of the lower limb requires complex and precise gene interactions. Although the etiologies of PFFD and FH remain unknown, there is a strong association between the two disorders. Associated congenital defects in the lower extremity are found in more than 50% of patients with PFFD, ipsilateral FH being the most common. FH also has a strong association with shortening and bowing of the tibia and with foot deformities such as absence of the lateral rays of the foot. Early diagnosis and radiologic classification of these abnormalities are imperative for appropriate management and surgical planning. Plain radiography remains the main diagnostic imaging modality for both PFFD and FH, and appropriate description of the osseous abnormalities seen on radiographs allows accurate classification, prognostic evaluation, and surgical planning. Minor malformations may commonly be misdiagnosed.

  12. Diagnosis and Treatment of Small Bowel Strangulation Due To Congenital Band: Three Cases of Congenital Band in Adults Lacking a History of Trauma or Surgery

    Science.gov (United States)

    Nicolas, Gregory; Kfoury, Tony; Shimlati, Rasha; Koury, Elliott; Tohme, Maroon; Gharios, Elie; Wakim, Raja

    2016-01-01

    Case series Patients: Male, 33 • Male, 18 • Male, 19 Final Diagnosis: Congenital band causing a small bowel obstruction Symptoms: Progressive abdominal pain that eventually becomes excessive Medication: — Clinical Procedure: Laparoscopic band removal Specialty: Surgery Objective: Rare disease Background: Among the causes of constipation are bands and adhesions that lead to obstructions at different points in the intestinal tract. These can occur as a consequence of healing following surgery or trauma. However, an entity known as congenital band exists where a band is present from birth. Here we report three such cases of adults with symptoms of intestinal obstruction, in whom a congenital band was discovered through exploratory laparoscopy. Case Reports: All three of these patients presented lacking a history of any abdominal trauma or previous abdominal surgeries, a fact that is often used to exclude an adhesion as a differential. All three recovered quickly and had relief of their symptoms following surgical intervention. Conclusions: Bands and adhesions are common surgical causes of small bowel obstruction, leading to symptoms such as nausea, vomiting, constipation, and obstipation. These bands almost always result from a prior abdominal surgery or from a recent abdominal trauma. The three cases presented here show a far more unusual picture of a band, one that is congenitally present, as there was an absence of such a history. This is significant because clinical suspicion of a band is often very low due to a lack of distinguishing clinical and diagnostic features, and when the past history is negative. PMID:27713389

  13. Prenatal diagnosis and abortion for congenital abnormalities: is it ethical to provide one without the other?

    Science.gov (United States)

    Ballantyne, Angela; Newson, Ainsley; Luna, Florencia; Ashcroft, Richard

    2009-08-01

    This target article considers the ethical implications of providing prenatal diagnosis (PND) and antenatal screening services to detect fetal abnormalities in jurisdictions that prohibit abortion for these conditions. This unusual health policy context is common in the Latin American region. Congenital conditions are often untreated or under-treated in developing countries due to limited health resources, leading many women/couples to prefer termination of affected pregnancies. Three potential harms derive from the provision of PND in the absence of legal and safe abortion for these conditions: psychological distress, unjust distribution of burdens between socio-economic classes, and financial burdens for families and society. We present Iran as a comparative case study where recognition of these ethical issues has led to the liberalization of abortion laws for fetuses with thalassemia. We argue that physicians, geneticists and policymakers have an ethical and professional duty of care to advocate for change in order to ameliorate these harms.

  14. Multiorgan Involvement Confounding the Diagnosis of Bartonella henselae Infective Endocarditis in Children With Congenital Heart Disease.

    Science.gov (United States)

    Ouellette, Christopher P; Joshi, Sarita; Texter, Karen; Jaggi, Preeti

    2017-05-01

    Two children with congenital heart disease status post surgical correction presented with prolonged constitutional symptoms, hepatosplenomegaly and pancytopenia. Concern for malignancy prompted bone marrow biopsies that were without evidence thereof. In case 1, echocardiography identified a multilobulated vegetation on the conduit valve. In case 2, transthoracic, transesophageal and intracardiac echocardiography were performed and were without evidence of cardiac vegetations; however, pulmonic emboli raised concern for infective endocarditis. Both patients underwent surgical resection of the infected material and had histopathologic evidence of infective endocarditis. Further diagnostics identified elevated cytoplasmic antineutrophil cytoplasmic antibodies and antiproteinase 3 antibodies in addition to acute kidney injury with crescentic glomerulonephritis on renal biopsy. Serologic evidence of infection with Bartonella henselae was observed in both patients. These 2 cases highlight the potential multiorgan involvement that may confound the diagnosis of culture-negative infective endocarditis caused by B. henselae.

  15. The utility of ultrasonography for the diagnosis of developmental dysplasia of hip joint in congenital muscular torticollis

    NARCIS (Netherlands)

    Park, H.K.; Kang, E.Y.; Lee, Shermin; Kim, K.M.; Jung, A.Y.; Nam, D.H.

    2013-01-01

    OBJECTIVE: To determine whether a routine ultrasonography (US) is necessary for diagnosis of developmental dysplasia of hip (DDH), presenting with congenital muscular torticollis (CMT). METHODS: Cases of 133 patients (81 males, 52 females) diagnosed as CMT were reviewed, retrospectively. We reviewed

  16. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    Directory of Open Access Journals (Sweden)

    Cornelia Tennstedt

    2000-01-01

    Full Text Available Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the Charité Hospital. The requests for a second opinion, which included text and image data, were sent in the form of Microsoft PowerPoint presentations to 5 experts in 4 countries. Per case the number of images that were sent was between 3 and 7. The size of the files was between 439 and 942 kb. The time required for preparation of the cases for sending them to the specialists was between 1 and 2 hours: this encompassed the time for putting the notation on the images, compressing them, creating a file that included both the images and the clinical data and then sending the case file. Results: All 10 cardiac malformations were correctly identified. In 8 of the 10 cases at least one expert had questions. After these questions had been answered and further images had been sent final correct diagnoses were made in all cases. All experts said that the quality of the images was very good. Use of a standardized findings questionnaire, which also included the marking of anatomic structures and of pathological findings in the images, proved useful. Standardized findings forms facilitate orientation during interpretation of the cases and should be used generally to avoid misunderstandings in telepathological communication. Conclusions: In general it is possible to obtain an effective and reliable diagnosis of congenital heart malformations by means of telepathology. It is far quicker to get a second opinion by this means than by conventional means.

  17. Contribution of a Comparative Western Blot Method to Early Postnatal Diagnosis of Congenital Syphilis.

    Science.gov (United States)

    Marangoni, Antonella; Foschi, Claudio; Capretti, Maria Grazia; Nardini, Paola; Compri, Monica; Corvaglia, Luigi Tommaso; Faldella, Giacomo; Cevenini, Roberto

    2016-05-01

    Serology has a pivotal role in the diagnosis of congenital syphilis (CS), but problems arise because of the passive transfer of IgG antibodies across the placenta. The aim of this study was to assess the diagnostic value of a comparative Western blot (WB) method finalized to match the IgG immunological profiles of mothers and their own babies at birth in order to differentiate between passively transmitted maternal antibodies and antibodies synthesized by the infants against Treponema pallidum Thirty infants born to mothers with unknown or inadequate treatment for syphilis were entered in a retrospective study, conducted at St. Orsola-Malpighi Hospital, Bologna, Italy. All of the infants underwent clinical, instrumental, and laboratory examinations, including IgM WB testing. For the retrospective study, an IgG WB assay was performed by blotting T. pallidum antigens onto nitrocellulose sheets and incubating the strips with serum specimens from mother-child pairs. CS was diagnosed in 11 out of the 30 enrolled infants; 9/11 cases received the definitive diagnosis within the first week of life, whereas the remaining two were diagnosed later because of increasing serological test titers. The use of the comparative IgG WB testing performed with serum samples from mother-child pairs allowed a correct CS diagnosis in 10/11 cases. The CS diagnosis was improved by a strategy combining comparative IgG WB results with IgM WB results, leading to a sensitivity of 100%. The comparative IgG WB test is thus a welcome addition to the conventional laboratory methods used for CS diagnosis, allowing identification and adequate treatment of infected infants and avoiding unnecessary therapy of uninfected newborns. Copyright © 2016, American Society for Microbiology. All Rights Reserved.

  18. Delayed diagnosis of congenital adrenal hyperplasia with salt wasting due to type II 3beta-hydroxysteroid dehydrogenase deficiency

    DEFF Research Database (Denmark)

    Johannsen, Trine H; Mallet, Delphine; Dige-Petersen, Harriet

    2005-01-01

    Classical 3beta-hydroxysteroid dehydrogenase (3beta-HSD) deficiency is a rare cause of congenital adrenal hyperplasia. We report two sisters presenting with delayed diagnoses of classical 3beta-HSD, despite salt wasting (SW) episodes in infancy. Sibling 1 was referred for premature pubarche, slight....... There is no previous report of the combination of SW and premature pubarche due to mutations in the type II 3beta-HSD gene. Because neonatal diagnosis could have prevented life-threatening crises in these girls, this report further supports the benefits for neonatal screening for congenital adrenal hyperplasia...

  19. Training Performance in Diagnosis of Congenital Uterine Anomalies With 3-Dimensional Sonography: A Learning Curve Cumulative Summation Analysis.

    Science.gov (United States)

    Pascual, M Angela; Alcazar, Juan Luís; Graupera, Betlem; Rodriguez, Ignacio; Guerriero, Stefano; Mallafre, Anna; de Lorenzo, Cristina; Hereter, Lourdes

    2016-12-01

    We evaluated learning curve cumulative summation (CUSUM) of 3-dimensional (3D) sonography for diagnosis of congenital uterine anomalies and the deviations of the level of trainees' performance at the control-stage CUSUM. First-year (R1), second-year (R2), and third-year (R3) residents in obstetrics and gynecology received a training program to learn how to analyze 3D sonographic volumes and to classify congenital uterine anomalies. Each trainee worked on 155 3D sonographic volumes from preselected patients. Their results were evaluated by learning curve CUSUM and standard CUSUM. The time for each volume analysis was calculated for the expert examiner and the trainees. Trainees R1, R2, and R3 reached competence at the 85th, 58th, and 40th evaluations, respectively, with success rates of 80%, 81%, and 85%, and kept the process under control with error levels of less than 4.5% until the end of the test. The trainees significantly reduced the average time of the evaluation per volume (P < .001). Learning curve CUSUM provided quantitative indicators of the learning evolution of 3D sonography for diagnosis of congenital uterine anomalies by obstetrics and gynecology residents. The training received by the residents was adequate for diagnosis of congenital uterine anomalies using 3D sonography. © 2016 by the American Institute of Ultrasound in Medicine.

  20. Prenatal diagnosis of congenital toxoplasmosis: comparative value of fetal blood and amniotic fluid using serological techniques and cultures.

    Science.gov (United States)

    Fricker-Hidalgo, H; Pelloux, H; Muet, F; Racinet, C; Bost, M; Goullier-Fleuret, A; Ambroise-Thomas, P

    1997-09-01

    The prenatal diagnosis of congenital toxoplasmosis is mainly based on biological tests performed on fetal blood and amniotic fluid. We studied the performance of neonatal diagnosis procedures and the results of fetal blood and amniotic fluid analysis. Of 127 women who contracted toxoplasmosis and underwent prenatal diagnosis, the postnatal serological follow-up was long enough to definitively diagnose congenital toxoplasmosis in 19 cases and to exclude it in 27 cases. Prenatal diagnosis allowed the detection of 94.7 per cent (18/19) of the infected fetuses. The sensitivities of tests in amniotic fluid and fetal blood were equivalent, 88.2 per cent (15/17) and 87.5 per cent (14/16), respectively. In fetal blood, biological techniques were positive in 12/16 cases and in 2/16 cases, serological tests were the only positive sign. The specificities of tests in amniotic fluid and fetal blood were respectively 100 per cent (23/23) and 86.3 per cent (19/22) (three false-positive serological results). These results, added to the lower morbidity of amniocentesis compared with cordocentesis, might lead to cordocentesis being abandoned in the prenatal diagnosis of congenital toxoplasmosis.

  1. Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

    Institute of Scientific and Technical Information of China (English)

    Xue-lian LI; Yu-qing ZHOU; Jue-hua ZHANG; Ying-liu YAN; Xiao-tian LI

    2007-01-01

    Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung (CCAM).Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CCAM over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01%o (1/11 124) before 28 gestation weeks. There were 1 case of type Ⅰ (8% ), 2 cases of type Ⅱ (17%) and 9 cases of type Ⅲ (75%). Nine pregnancies were terminated and 2 cases were confirmed by pathology.Three neonates were alive and without any symptom now.Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination of fetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

  2. Diagnosis and management of congenital adrenal hyperplasia: clinical, molecular and prenatal aspects.

    Science.gov (United States)

    Mathur, R; Kabra, M; Menon, P S

    2001-01-01

    Congenital adrenal hyperplasia (CAH) is the most common cause of female pseudohermaphroditism in Indian children. It is caused by enzymatic defects in the steroidogenic pathway of the adrenal glands and is characterized by impaired cortisol and aldosterone synthesis and overproduction of androgens. The disease usually presents with life-threatening problems and virilization, with long term physical and psychological effects. The clinical and laboratory diagnoses play an important role in deciding the course of treatment, which continues lifelong. To ensure proper growth and development of the patient, optimized disease management and treatment with steroids is required. Often the patient also requires surgical correction. Recent developments in molecular genetics have greatly helped in understanding the pathogenesis of the disease. The gene encoding for steroid 21-hydroxylase, CYP21, is located on the short arm of chromosome 6 in the HLA region and is amplified for genetic diagnosis. Rapid characterization of point mutations is possible using the allele-specific polymerase chain reaction technique in affected children. Counselling, prenatal diagnosis and treatment are recommended in all pregnant women with a positive family history to reduce or eliminate the effects in affected foetuses. This spares the female newborn the consequences of genital ambiguity and problems of gender identity.

  3. Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

    Science.gov (United States)

    Riepe, Felix G; Sippell, Wolfgang G

    2007-12-01

    Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal-recessive disease causing cortisol deficiency, aldosterone deficiency and hyperandrogenism. Diagnosis of 21-OHD is confirmed by steroid analysis in newborn screening or later on. Standard medical treatment consists of oral glucocorticoid and mineralocorticoid administration in order to suppress adrenal androgens and to compensate for adrenal steroid deficiencies. However, available treatment is far from ideal, and not much is known about the long-term outcome in CAH as trials in patients in adulthood or old age are rare. Here we briefly describe the pathophysiology, clinical picture, genetics and epidemiology of 21-OHD. This is followed by a comprehensive review of the recent advances in diagnosis, treatment and outcome. Novel insights have been gained in the fields of newborn screening, specific steroid measurement utilizing mass spectrometry, genetics, glucocorticoid stress dosing, additive medical therapy, prenatal treatment, side-effects of medical treatment, adrenomedullary involvement, metabolic morbidity, fertility and gender identity. However, many issues are still unresolved, and novel questions, which will have to be answered in the future, arise with every new finding.

  4. Cardiac magnetic resonance: Impact on diagnosis and management of patients with congenital cardiovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Secchi, F., E-mail: francescosecchimd@gmail.com [Scuola di Specializzazione in Radiodiagnostica, Universita degli Studi di Milano, Milan (Italy); Di Leo, G. [S.C. di Radiologia, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Papini, G.D.E. [Scuola di Specializzazione in Radiodiagnostica, Universita degli Studi di Milano, Milan (Italy); Nardella, V.G. [Facolta di Medicina e Chirurgia, Universita degli Studi di Milano, Milan (Italy); Negura, D.; Carminati, M. [S.C. di Cardiologia Pediatrica, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Sardanelli, F. [S.C. di Radiologia, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Dipartimento di Scienze Medico-Chirurgiche, Universita degli Studi di Milano, Milan (Italy)

    2011-08-15

    Aim: To estimate the clinical impact of cardiac magnetic resonance (CMR) in patients with congenital cardiovascular disease (CCD). Materials and methods: Since 2003, 1.5 T CMR was used at our university hospital to evaluate morphology, cardiac kinetics, aortic and pulmonary flow, and vascular anatomy in patients with CCD. The present study considered a consecutive series of these patients from 2003 to 2006. A paediatric cardiologist judged our reports as expected or unexpected and, secondarily, as not reliable (level 0), describing findings already known (level 1), not changing therapy/suggested lifestyle (level 2), changing therapy/suggested lifestyle (level 3) or changing diagnosis (level 4). Results: CMR reports were judged to be expected in 187/214 (87%) and unexpected in 27/214 (13%). Less than 2% of CMRs were judged as levels 0 or 1, 66% as level 2, and 5% as level 4. During 2005-2006 the clinical impact improved toward higher impact levels (p < 0.001, chi-square test). Conclusions: In patients with CCD, more than one in 10 CMR reports were unexpected to cardiologists and over seven in 10 prompted a change of diagnosis or therapy.

  5. MR and cine-MR imaging in the diagnosis of infantile congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱会英; 韩立新; 黄新华; 王霞

    2001-01-01

    目的评价磁共振成像(MRI)及电影磁共振成像(cine-MRI)在小儿先天性心脏病(简称先心病)中的诊断 价值。方法对34例先心患儿常规行横轴位、冠状位、矢状位成像,并根据诊断需要选择垂直于室间隔的长轴 位、短轴位及平行于室间隔的长轴位。在图像中选择感兴趣的层面做心脏cine-MRI,每个心动周期内采集 16-32帧图像,以动态观察心脏及大血管变化,并与二维超声心动图(2DE)、心血管造影(CAG)及手术结 果进行对照分析。 结果MRI测量6例左向右分流型先心病患儿缺损口或内径值与手术所见相吻合(P=0.924),与2DE呈 正相关(r=0.973),且MRI较2DE更接近手术实测值。MRI及cine-MRI诊断28例复杂型先心病,27例与 手术诊断相一致。 结论MRI能准确显示房、室间隔的缺损、动脉导管未闭部位及内径,cine-MRI能以电影的方式显示间隔 缺损的分流、心脏与大血管血流状况及畸形的病理形态。本组资料证实MRI及cine-MRI是一种安全、无 创的诊断小儿先天性心脏病的检查方法,有较大的临床应用价值。%Objective To assess the effectiveness of magnetic resonanceimaging (MRI) and cine magnetic resonance imaging (cine-MRI) in the diagnosis of infantile congenital heart disease. Methods A total of 34 cases were studied with MRI and cine-MRI. The data were analyzed and compared with those of two-dimensional echocardiography (2DE), cardioangiography (CAG) and surgery. Results The size of the defect or its caliber obtained from MRI in 6 patients with left to right shunt congenital heart disease was compatible with that observed in surgery (P=0.924). Comparison of cine-MRI and CAG in 28 patients with complicated congenital heart disease showed that the diagnosis of 27 cases by cine-MRI was the same as that by CAG. Conclusion Both MRI and cine-MRI play an important role in diagnosing infantile congenital heart disease.

  6. Congenital aortic arch anomalies: diagnosis using contrast enhanced magnetic resonance angiography

    Institute of Scientific and Technical Information of China (English)

    ZHU Ming; ZHONG Yu-min; LI Yu-hua; SUN Ai-min; JIN Biao

    2005-01-01

    @@ Congenital aortic arch anomalies occur most commonly in children. The disease can be classified into three types: ① obstructive congenital abnormalities, including coarctation of aorta (CoA) and interruption of aortic arch (IAA); ② non-obstructive congenital abnormalities, including double aortic arch and others; ③ congenital shunt abnormalities, including different types of patent ductus arteriosus (PDA). Management of patients with congenital aortic arch anomalies relies on imaging. Routine imaging modalities, such as conventional X-ray plain film and transthoracic echocardiography (TTE), have been recently complemented by magnetic resonance imaging (MRI).

  7. Reversible monocular cataract simulating amaurosis fugax.

    Science.gov (United States)

    Paylor, R R; Selhorst, J B; Weinberg, R S

    1985-07-01

    In a patient having brittle, juvenile-onset diabetes, transient monocular visual loss occurred repeatedly whenever there were wide fluctuations in serum glucose. Amaurosis fugax was suspected. The visual loss differed, however, in that it persisted over a period of hours to several days. Direct observation eventually revealed that the relatively sudden change in vision of one eye was associated with opacification of the lens and was not accompanied by an afferent pupillary defect. Presumably, a hyperosmotic gradient had developed with the accumulation of glucose and sorbitol within the lens. Water was drawn inward, altering the composition of the lens fibers and thereby lowering the refractive index, forming a reversible cataract. Hypoglycemia is also hypothesized to have played a role in the formation of a higher osmotic gradient. The unilaterality of the cataract is attributed to variation in the permeability of asymmetric posterior subcapsular cataracts.

  8. The accuracy of chest radiographs in the detection of congenital heart disease and in the diagnosis of specific congenital cardiac lesions

    Energy Technology Data Exchange (ETDEWEB)

    Laya, Bernard F. [St. Luke' s Medical Center, Department of Radiology, Quezon (Philippines); Goske, Marilyn J. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Children' s Hospital Medical Center of Akron, Department of Radiology, Akron, OH (United States); Morrison, Stuart; Reid, Janet R. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Swischuck, Leonard [The University of Texas Medical Branch, Department of Radiology, Galveston, TX (United States); Ey, Elizabeth H. [The Children' s Medical Center, Department of Medical Imaging, Dayton, OH (United States); Murphy, Daniel J. [Stanford University Medical Center, Department of Pediatrics, Palo Alto, CA (United States); Lieber, Michael; Obuchowski, Nancy [The Cleveland Clinic Foundation, Department of Quantitative Health Sciences, Cleveland, OH (United States)

    2006-07-15

    Congenital heart disease (CHD) is a significant cause of morbidity and mortality in pediatric patients. Traditional teaching holds that specific types of CHD can be diagnosed on the chest radiograph (CXR) through pattern recognition. To determine the accuracy of radiologists in detecting CHD on the CXR. This study was a blinded retrospective review of chest radiographs from 281 patients (<12 years) by five pediatric radiologists from three institutions. Thirteen groups were evaluated that included 12 categories of CHD and a control group of patients without heart disease. Radiographs were assessed for heart size, heart and mediastinal shape and vascularity. Clinical information, angiography, echocardiograms and surgery were used as the gold standard for definitive diagnosis. The average accuracy of the five readers in distinguishing normal from CHD patients was 78% (range of 72% to 82%). The overall measure of accuracy in distinguishing specific congenital cardiac lesions among 13 groups of patients was 71% (range of 63% to 79%). CXR alone is not diagnostic of specific cardiac lesions, with a low accuracy of only 71%. We believe that less emphasis should be placed on the use of radiographs alone in diagnosing specific congenital cardiac lesions. (orig.)

  9. Noninvasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia Using Cell-Free Fetal DNA in Maternal Plasma

    Science.gov (United States)

    Tong, Yu K.; Yuen, Tony; Jiang, Peiyong; Pina, Christian; Chan, K. C. Allen; Khattab, Ahmed; Liao, Gary J. W.; Yau, Mabel; Kim, Se-Min; Chiu, Rossa W. K.; Sun, Li; Zaidi, Mone

    2014-01-01

    Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition that arises from mutations in CYP21A2 gene, which encodes for the steroidogenic enzyme 21-hydroxylase. To prevent genital ambiguity in affected female fetuses, prenatal treatment with dexamethasone must begin on or before gestational week 9. Currently used chorionic villus sampling and amniocentesis provide genetic results at approximately 14 weeks of gestation at the earliest. This means that mothers who want to undergo prenatal dexamethasone treatment will be unnecessarily treating seven of eight fetuses (males and three of four unaffected females), emphasizing the desirability of earlier genetic diagnosis in utero. Objective: The objective of the study was to develop a noninvasive method for early prenatal diagnosis of fetuses at risk for CAH. Patients: Fourteen families, each with a proband affected by phenotypically classical CAH, were recruited. Design: Cell-free fetal DNA was obtained from 3.6 mL of maternal plasma. Using hybridization probes designed to capture a 6-Mb region flanking CYP21A2, targeted massively parallel sequencing (MPS) was performed to analyze genomic DNA samples from parents and proband to determine parental haplotypes. Plasma DNA from pregnant mothers also underwent targeted MPS to deduce fetal inheritance of parental haplotypes. Results: In all 14 families, the fetal CAH status was correctly deduced by targeted MPS of DNA in maternal plasma, as early as 5 weeks 6 days of gestation. Conclusions: MPS on 3.6 mL plasma from pregnant mothers could potentially provide the diagnosis of CAH, noninvasively, before the ninth week of gestation. Only affected female fetuses will thus be treated. Our strategy represents a generic approach for noninvasive prenatal testing for an array of autosomal recessive disorders. PMID:24606108

  10. Congenital anterior urethral valves and diverticula: Diagnosis and management in six cases

    Directory of Open Access Journals (Sweden)

    Rawat Jiledar

    2009-01-01

    Full Text Available Background: Anterior urethral valves (AUVs are rare congenital anomalies causing lower urinary tract obstruction in children. Although they are referred to as valves, these obstructive structures often occur in the form of a diverticulum. The urethra in these cases shows saccular or bulbar dilatation known as anterior urethral diverticulum (AUD. They typically occur where there is a defect in the corpus spongiosum, leaving a thin-walled urethra. This segment of the urethra balloons out during voiding, simulating a mass that is sometimes visible along the ventral wall of the penis. The swelling is fluctuant and urine dribbles from the meatus on compression. The present study highlights the clinical approach in identifying the condition and its treatment options, especially for those, presenting with urethral diverticula. Materials and Methods: We have studied children with congenital anterior urethral valves and diverticula. Six patients of AUVs with diverticula were admitted during the period of 2000-2007 and were prospectively evaluated. The mean age of presentation was 16 months (15 days to 4 years. Straining at micturition and a palpable penile swelling were the most common presenting features. The diagnosis was established by voiding cystourethrogram (VCUG and supported by ultrasonography (USG. All patients were treated with single-stage open surgical excision except one who died preoperatively due to urosepsis. Initial lay opening of the penoscrotal urethra and delayed repair were done in one patient. Results: The surgical outcome was successful in all but one patient, who died of delayed presentation with severe back pressure changes, urinary ascitis and urosepsis. On long-term follow-up, all patients demonstrated good stream of urine. The renal functions were normal and the patients had no evidence of urinary infections. Conclusion: We propose that, the patients of AUVs, if not excessively delayed for treatment are otherwise well in terms

  11. Failure to identify antenatal multiple congenital contractures and fetal akinesia--proposal of guidelines to improve diagnosis.

    Science.gov (United States)

    Filges, Isabel; Hall, Judith G

    2013-01-01

    The aim of this study is to assess the rate of prenatal detection of multiple congenital contractures, to identify reasons for the failure of prenatal diagnosis and to propose the first guidelines to improve prenatal diagnosis. We evaluated records on 107 individuals recognized at birth to have Amyoplasia. We reviewed the literature on the onset and development of fetal activity, antenatal clinical signs in fetal movement disorders, prenatal studies of fetal movement and contractures by ultrasound and magnetic resonance imaging (MRI) and existing guidelines. In 73.8%, the diagnosis was missed prenatally. Correct diagnosis was achieved by the identification of bilateral clubfeet on ultrasound or because mothers perceived reduced fetal movement. Ultrasound would be able to visualize contractures, joint positioning, the quality of fetal movements, lung size, muscle tissue, and bone growth in the first or early second trimester. MRI results are promising. Guidelines for assessing early fetal movement do not exist. Prenatal detection rate of multiple congenital contractures is appalling. Failure of diagnosis precludes further etiologic and diagnostic workup and deprives families of making informed pregnancy choices. Standards for prenatal diagnosis are lacking, but on the basis of current knowledge and expert opinion, we propose the first guidelines for a prenatal diagnostic strategy, discuss future directions and the need for multicentric studies. © 2013 John Wiley & Sons, Ltd.

  12. How to improve the early diagnosis of Trypanosoma cruzi infection: relationship between validated conventional diagnosis and quantitative DNA amplification in congenitally infected children.

    Directory of Open Access Journals (Sweden)

    Jacqueline Bua

    Full Text Available BACKGROUND: According to the Chagas congenital transmission guides, the diagnosis of infants, born to Trypanosoma cruzi infected mothers, relies on the detection of parasites by INP micromethod, and/or the persistence of T. cruzi specific antibody titers at 10-12 months of age. METHODOLOGY AND PRINCIPAL FINDINGS: Parasitemia levels were quantified by PCR in T. cruzi-infected children, grouped according to the results of one-year follow-up diagnosis: A Neonates that were diagnosed in the first month after delivery by microscopic blood examination (INP micromethod (n = 19 had a median parasitemia of 1,700 Pe/mL (equivalent amounts of parasite DNA per mL; B Infants that required a second parasitological diagnosis at six months of age (n = 10 showed a median parasitemia of around 20 Pe/mL and 500 Pe/mL at 1 and 6 months old, respectively, and C babies with undetectable parasitemia by three blood microscopic observations but diagnosed by specific anti - T. cruzi serology at around 1 year old, (n = 22, exhibited a parasitemia of around 5 Pe/mL, 800 Pe/mL and 20 Pe/mL 1, 6 and 12 month after delivery, respectively. T. cruzi parasites were isolated by hemoculture from 19 congenitally infected children, 18 of which were genotypified as DTU TcV, (former lineage TcIId and only one as TcI. SIGNIFICANCE: This report is the first to quantify parasitemia levels in more than 50 children congenitally infected with T. cruzi, at three different diagnostic controls during one-year follow-up after delivery. Our results show that the parasite burden in some children (22 out of 51 is below the detection limit of the INP micromethod. As the current trypanocidal treatment proved to be very effective to cure T. cruzi - infected children, more sensitive parasitological methods should be developed to assure an early T. cruzi congenital diagnosis.

  13. Radiological Diagnosis of Congenital Diaphragmatic Hernia in 17th Century Korean Mummy

    Science.gov (United States)

    Kim, Yi-Suk; Lee, In Sun; Jung, Go-Un; Kim, Myeung Ju; Oh, Chang Seok; Yoo, Dong Su; Lee, Won-Joon; Lee, Eunju; Cha, Soon Chul; Shin, Dong Hoon

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm resulting in pulmonary sequelae that threaten the lives of infants. In computed tomography (CT) images of a 17th century middle-aged male mummy (the Andong mummy), we observed that the abdominal contents had protruded into the right thoracic cavity through the diaphragmatic defect, accompanied by a mediastinal shift to the left. On autopsy, the defect in the right posterolateral aspect of the diaphragm was reconfirmed, as was the herniation of the abdominal organs. The herniated contents included the right lobe of the liver, the pyloric part of the stomach, a part of the greater omentum, and the right colic flexure connecting the superior part of the ascending colon and the right part of the transverse colon. Taking our CT and autopsy results together, this case was diagnosed as the Bochdalek-type CDH. Herein we make the first ever report of a CT-assisted diagnosis of a pre-modern historical case of CDH. Our results show the promising utility of this modality in investigations of mummified human remains archaeologically obtained. PMID:24988465

  14. Molecular diagnosis of congenital adrenal hyperplasia; Diagnostyka molekularna zespolu nadnerczowo-plciowego

    Energy Technology Data Exchange (ETDEWEB)

    Kupczyk, P.; Sawinski, P. [Akademia Medyczna, Poznan (Poland); Trzeciak, W. [Polska Akademia Nauk, Poznan (Poland). Zaklad Genetyki Czlowieka

    1996-12-31

    The most common cause of congenital adrenal hyperplasia (CAH) is the deficiency of cytochrome P450{sub 21} - a component of steroid 21-hydroxylase. This blocks the synthesis of glucocorticoids and mineralocorticoids and leads to excessive secretion of adrenal androgens. The functional gene of cytochrome P450{sub 21} (CYP21B) as well as its pseudogene (CYP21A), are located on the short arm of chromosome 6 p21.3. The detection of mutations of the CYP21B gene revealed that the main cause of CAH are conversions, deletions, insertions, duplications and point mutations, resulting in premature termination of transcription, frame shift, aberration of RNA splicing etc. Molecular methods most commonly employed in investigations of CYP21 gene were discussed and some results obtained with the use of these methods were presented. The most commonly used methods are: restriction fragment length polymerization, Southern blotting, DNA single strand conformation polymorphism and sequence analysis. Chemical cleavage method and denaturing gradient gel electrophoresis of the DNA fragments, or else applying the illegitimate DNA transcription, will hopefully facilitate detection of the mutations in the CYP21B gene. The application of the molecular methods enables precise prenatal diagnosis of CAH, which facilitates early and successful treatment. (author). 44 refs, 4 figs, 3 tabs.

  15. Prenatal Diagnosis of Isolated Fetal Hydrocolpos Secondary to Congenital Imperforate Hymen

    Directory of Open Access Journals (Sweden)

    Jenn-Jhy Tseng

    2008-06-01

    Full Text Available A 32-year-old primigravida was referred to our hospital at 36 weeks of gestation with a fetal pelvic mass. Ultrasonography showed the fluid-filled area to be a 9 × 4 × 5-cm pear-shaped retrovesical mass with a funnel-shaped blind pouch at the distal end of the fetal vagina. Marked left hydronephrosis resulting from mass compression was also detected. Fetal magnetic resonance imaging further defined a pelvic lesion extending cephalically into the abdomen and caudally into the vagina. Membranal protrusion of the introitus was clearly identified. Therefore, the diagnosis of congenital imperforate hymen with hydrocolpos was established. At 38 weeks of gestation, a 2,966-g female infant was delivered vaginally with good Apgar scores. Physical examination of the neonate revealed a bulging membrane covering the vaginal opening. The presence of syndromic disorders (McKusick-Kaufman, Ellis-van Creveld or Bardet-Biedl syndromes, genitourinary and anorectal anomalies were excluded. The karyotype was 46, XX. A hymenotomy was performed on the second day of life. The infant recovered fully after hymenotomy.

  16. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    Science.gov (United States)

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing.

  17. [Real-time sonography of the infant hip joint in the early diagnosis of congenital hip dysplasia].

    Science.gov (United States)

    Casser, H R; Forst, R

    1985-01-01

    The ultrasonic examination of infant hip joint means a great advantage in early diagnosis of congenital hip dysplasia. The sonographic type classification by Graf enables the experienced examiner to make up a differentiated diagnostic-therapeutic concept as early as possible. Therapeutic omissions just as well as exaggerated therapeutic measures can be avoided. Consequently the prognosis of hip joint dysplasia is considerably improved by ultrasonic examination of new-born hip joints.

  18. Transforming growth factor-β1 in congenital ureteropelvic junction obstruction: diagnosis and follow-up

    Directory of Open Access Journals (Sweden)

    Cristian Sager

    2009-06-01

    Full Text Available OBJECTIVE: To assess the role of transforming growth factor-β1 (TGF-β1 in congenital ureteropelvic junction obstruction at diagnosis and during postoperative follow-up. MATERIAL AND METHODS: We conducted a case-control study including 19 patients with a mean age of 6.7 years and 19 matched controls. All patients presented negative voiding cystourethrography, obstructive diuretic renogram and underwent dismembered pyeloplasty. Urinary TGF-β1 and other markers were measured pre-, intra- and postoperatively. RESULTS: The mean bladder urine TGF-β1 concentration in obstructed patients prior to pyeloplasty was higher than in controls (92.5 pg/mL ± 16.8 vs. 35.8 pg/mL ± 16.2; p = 0.0001. The mean renal pelvic urine TGF-β1 concentration in the hydronephrotic kidney was higher than in the preoperative bladder urine sample (122.3 pg/mL ± 43.9 vs. 92.5 pg/mL ± 16.8; p = 0.036. Postoperative mean TGF-β1 concentration was significantly lower than preoperative TGF-β1 (48.7 pg/mL ± 13.1 vs. 92.5 pg/mL ± 16.8; p = 0.0001. CONCLUSION: TGF-β1 is a cytokine leading to renal fibrosis. The measurement of urinary TGF-β1 could become a useful tool for the diagnosis of obstructive hydronephrosis and the evaluation of the parenchyma function status, pre and postoperatively.

  19. Diagnosis of Mercurial Teeth in a Possible Case of Congenital Syphilis and Tuberculosis in a 19th Century Child Skeleton

    Directory of Open Access Journals (Sweden)

    Stella Ioannou

    2015-01-01

    Full Text Available Without the presence of “caries sicca,” “sabre shins,” and nodes/expansion of the long bones with superficial cavitation, differential diagnosis of venereal syphilis and tuberculosis (TB may be difficult as various infections produce similar responses. However, congenital syphilis has distinctive features facilitating a diagnosis. A case study of remains of a juvenile European settler (probably male, 8–10 years old (B70 buried in the 19th century and excavated in 2000 from the cemetery of the Anglican Church of St. Marys in South Australia is presented. B70 demonstrated that the two diseases might have been present in the same individual, congenital syphilis and TB. Widespread destruction of vertebral bodies and kyphosis-related rib deformations indicate advanced TB. Severe dental hypoplasia is limited to permanent incisors and first molars; there is pitting on the palate, periosteal reaction on the skull vault, and thinned clavicles. Dental signs are not limited to “screwdriver” central incisors and mulberry molars. Apical portions of the crowns of permanent upper, lower, central, and lateral incisors have multiple hypoplastic-disorganized defects; deciduous canines have severely hypoplastic crowns while possibly hypoplastic occlusal surfaces of lower deciduous second molars are largely destroyed by extensive caries. These dental abnormalities resemble teeth affected by mercurial treatment in congenital syphilitic patients as described by Hutchinson.

  20. Clinical and laboratory diagnosis of congenital Zika virus syndrome and diaphragmatic unilateral palsy: case report

    Directory of Open Access Journals (Sweden)

    Alex Sandro Rolland Souza

    Full Text Available Abstract Introduction: several birth defects associated to congenital Zika virus infection have been reported, although the clinical features have not been fully characterized. Description: this is the first case report on unilateral diaphragmatic paralysis diagnosed on a neonate with congenital Zika confirmed by the examination of the amniotic fluid through polymerase chain reaction (ZIKV RT-PCR and the examination of cerebrospinal fluid by serological test (IgM ZIKV-ELISA after birth. The main manifestations detected by intrauterine ultrasound were: microcephaly, ventriculomegaly, intracranial calcifications, enlarged cisterna magna, increased amniotic fluid index and fetal akinesia syndrome. The newborn had acute respiratory failure in the first hours of life, requiring mechanical ventila-tion. The X- ray of the chest showed unilateral diaphragmatic paralysis and cardiomegaly. Discussion: diaphragmatic palsy in congenital Zika has not been previously reported, the etiopathogenic mechanisms of this event in congenital Zika virus needs to be elucidated.

  1. Delayed diagnosis and underreporting of congenital anomalies associated with oral clefts in the Netherlands: a national validation study.

    Science.gov (United States)

    Rozendaal, A M; Luijsterburg, A J M; Ongkosuwito, E M; van den Boogaard, M-J H; de Vries, E; Hovius, S E R; Vermeij-Keers, C

    2012-06-01

    Since 1997, the 15 Dutch cleft palate teams have reported their patients with oral clefts to the national oral cleft registry (NVSCA). During the first visit of the patient to the team - which is usually within the first year of life - the oral cleft and associated congenital anomalies are recorded through a unique recording form by a plastic surgeon/orthodontist/paediatrician. In this study, we evaluated the quality of data on congenital anomalies associated with clefts. We drew a random sample of 250 cases registered in the national database with oral clefts from 1997 through 2003; of these, 13 were excluded. Using two independent reregisters derived from two-phased medical data review, we analysed whether associated anomalies were correctly diagnosed and recorded. The agreement on associated anomalies between the NVSCA and medical data ranged from moderate to poor (kappa 0.59 to 0). Seventy-seven percent of the craniofacial anomalies were underreported in the NVSCA: 30% due to delayed diagnosis and 47% due to deficient recording. Additionally, 80% of the associated anomalies of other organ systems were underreported: 52% due to delayed diagnosis and 28% due to deficient recording. The reporting of final diagnoses was somewhat better; however, 54% were still underreported (24% delayed diagnosis and 30% deficient recording). The rate of overreporting was 1.6% or lower. Congenital anomalies associated with clefts are underreported in the NVSCA because they are under diagnosed and deficiently recorded during the first consultations with the cleft palate teams. Our results emphasise the need for routine and thorough examination of patients with clefts. Team members should be more focussed on co-occurring anomalies, and early genetic counselling seems warranted in most cases. Additionally, our findings underline the need for postnatal follow-up and ongoing registration of associated anomalies; reregistration in the NVSCA at a later age is recommended. Copyright

  2. How to Improve the Early Diagnosis of Trypanosoma cruzi Infection: Relationship between Validated Conventional Diagnosis and Quantitative DNA Amplification in Congenitally Infected Children

    Science.gov (United States)

    Bua, Jacqueline; Volta, Bibiana J.; Perrone, Alina E.; Scollo, Karenina; Velázquez, Elsa B.; Ruiz, Andres M.; De Rissio, Ana M.

    2013-01-01

    Background According to the Chagas congenital transmission guides, the diagnosis of infants, born to Trypanosoma cruzi infected mothers, relies on the detection of parasites by INP micromethod, and/or the persistence of T. cruzi specific antibody titers at 10–12 months of age. Methodology and Principal Findings Parasitemia levels were quantified by PCR in T. cruzi-infected children, grouped according to the results of one-year follow-up diagnosis: A) Neonates that were diagnosed in the first month after delivery by microscopic blood examination (INP micromethod) (n = 19) had a median parasitemia of 1,700 Pe/mL (equivalent amounts of parasite DNA per mL); B) Infants that required a second parasitological diagnosis at six months of age (n = 10) showed a median parasitemia of around 20 Pe/mL and 500 Pe/mL at 1 and 6 months old, respectively, and C) babies with undetectable parasitemia by three blood microscopic observations but diagnosed by specific anti - T. cruzi serology at around 1 year old, (n = 22), exhibited a parasitemia of around 5 Pe/mL, 800 Pe/mL and 20 Pe/mL 1, 6 and 12 month after delivery, respectively. T. cruzi parasites were isolated by hemoculture from 19 congenitally infected children, 18 of which were genotypified as DTU TcV, (former lineage TcIId) and only one as TcI. Significance This report is the first to quantify parasitemia levels in more than 50 children congenitally infected with T. cruzi, at three different diagnostic controls during one-year follow-up after delivery. Our results show that the parasite burden in some children (22 out of 51) is below the detection limit of the INP micromethod. As the current trypanocidal treatment proved to be very effective to cure T. cruzi - infected children, more sensitive parasitological methods should be developed to assure an early T. cruzi congenital diagnosis. PMID:24147166

  3. Usefulness of computed tomography hounsfield unit measurement for diagnosis of congenital cholesteatoma

    Energy Technology Data Exchange (ETDEWEB)

    Ahn, Sang Hyuk; Kim, Yong Woo; Baik, Seung Kug; Hwang, Jae Yeon; Lee, Il Woo [Medical Research Institute, Pusan National University Yangsan Hospital, College of Medicine, Pusan National University, Yangsan (Korea, Republic of)

    2014-02-15

    To evaluate the usefulness of Hounsfield unit (HU) measurements for diagnosing of congenital cholesteatoma. A total of 43 patients who underwent surgery due to middle ear cavity lesions were enrolled. Twenty-one patients were confirmed to have congenital cholesteatoma by histopathological results and the other 22 patients were confirmed to have otitis media (OM) by operation. Their computed tomography images were retrospectively reviewed. We measured HU of the soft tissue mass in the middle ear cavity. In addition, we evaluated the largest diameter and location of the mass, the presence of bony erosion in the ear ossicle, and the status of the tympanic membrane in the cholesteatoma group. The mean HU was 37.36 ± 6.11 (range, 27.5-52.5) in the congenital cholesteatoma group and 76.09 ± 8.74 (range, 58.5-96) in the OM group (p < 0.001). The cut-off value was 55.5. The most common location for congenital cholesteatoma was the mesotympanum, and ear ossicle erosion was present in 24%. All patients had an intact tympanic membrane. HU measurement may be useful as an additional indicator to diagnose congenital cholesteatoma.

  4. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

  5. Congenital Pseudoarthrosis of Medial Malleolus in A Young Soccer Player – Diagnosis in Clinical setting of Ankle Sprain

    Directory of Open Access Journals (Sweden)

    Giuliano Cerulli

    2014-01-01

    Full Text Available Introduction: We report a case of a young female soccer player affected by congenital medial bilateral malleolus pseudoarthrosis and os subfibulare. Congenital pseudoarthrosis is the failure of the bones to fuse prior or at birth. The etiology is still unknown, although frequency is high in subjects affected by neurofibromatosis or correlated syndromes, so it has been suggested that these congenital disorders may be the cause of congenital pseudoarthrosis. Case Report: Our patient, a 16-year-old female, high level soccer player, was referred to us following a right ankle sprain during a match. She reported no medical history of tibia-tarsus joint injuries or disease. Pain, swelling and functional impairment were noted immediately after the accident. Standard radiographs in the emergency department revealed a displaced fracture of the medial malleolus and the presence of os subfibularis. The patient was transferred to our Traumatology and Orthopaedic Department to undergo malleolus ostheosynthesis. Before surgery swelling, functional impairment and intense pain at the medial malleolus level were confirmed. However, there was no radiological opening of ankle, instability or pronation pain; furthermore the flexion-extension was preserved with slight pain. Twenty-four hours later a considerable remission of symptoms was evident with increased range of motion and reduction in the swelling and post-traumatic edema. A radiograph on the left ankle to compare with that of the right ankle was necessary to overcome the discrepancy between the radiological diagnosis and the clinical examination. The radiographic results of both medial malleoli were comparable although on the left the os subfibularis was absent. Since the diagnosis of fracture by the association between the radiographs and the symptomatology was doubtful, a bilateral CT was performed. The scan revealed a medial bilateral malleolus pseudoarthrosis and an accessory right subfibularis nucleus

  6. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  7. Prenatal and Early Postnatal Diagnosis of Congenital Toxoplasmosis in a Setting With No Systematic Screening in Pregnancy.

    Science.gov (United States)

    Stajner, Tijana; Bobic, Branko; Klun, Ivana; Nikolic, Aleksandra; Srbljanovic, Jelena; Uzelac, Aleksandra; Rajnpreht, Irena; Djurkovic-Djakovic, Olgica

    2016-03-01

    To determine the risk of congenital toxoplasmosis (CT) and provide early (pre- or postnatal) identification of cases of CT in the absence of systematic screening in pregnancy.I n the presented cross-sectional study, serological criteria were used to date Toxoplasma gondii infection versus conception in 80 pregnant women with fetal abnormalities or referred to as suspected of acute infection, and in 16 women after delivery of symptomatic neonates. A combination of serological, molecular (qPCR), and biological (bioassay) methods was used for prenatal and/or postnatal diagnosis of CT. Most (77.5%) pregnant women were examined in advanced pregnancy. Of all the examined seropositive women (n = 90), infection could not be ruled out to have occurred during pregnancy in 93.3%, of which the majority (69%) was dated to the periconceptual period. CT was diagnosed in 25 cases, of which 17 prenatally and 8 postnatally. Molecular diagnosis proved superior, but the diagnosis of CT based on bioassay in 7 instances and by Western blot in 2 neonates shows that other methods remain indispensable. In the absence of systematic screening in pregnancy, maternal infection is often diagnosed late, or even only when fetal/neonatal infection is suspected. In such situations, use of a complex algorithm involving a combination of serological, biological, and molecular methods allows for prenatal and/or early postnatal diagnosis of CT, but lacks the preventive capacity provided by early maternal treatment.

  8. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

    Science.gov (United States)

    Hou, Wen-Chien; Chen, Chih-Ping; Hwang, Kwei-Shuai; Chen, Ying-Chieh; Lai, Yu-Ju; Tien, Chau-Yang; Su, Her-Young

    2014-12-01

    We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions. A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence. Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion. Copyright © 2014. Published by Elsevier B.V.

  9. Detection of unstable carotid plaque by tissue Doppler imaging and contrast-enhanced ultrasound in a patient with recurrent amaurosis fugax.

    Science.gov (United States)

    Kunte, Hagen; Rückert, Ralph-Ingo; Schmidt, Charlotte; Harms, Lutz; Kasper, Antje-Susanne; Hellweg, Rainer; Grigoryev, Maria; Fischer, Thomas; Kronenberg, Golo

    2013-01-01

    Ultrasound (US) is one of the most important diagnostic tools available for the detection and evaluation of carotid stenosis. The case of a 70-year-old woman with recurrent right-sided amaurosis fugax presented here highlights the way in which tissue Doppler imaging (TDI) and contrast-enhanced US (CEUS) may aid in the diagnosis of carotid plaque vulnerability. Furthermore, the novel inverse fly-through technique was used for the three-dimensional visualization of the carotid stenosis.

  10. EARLY DIAGNOSIS OF CONGENITAL HEART DISEASE%新生儿先天性心脏病早期诊断

    Institute of Scientific and Technical Information of China (English)

    冉建瑜

    2011-01-01

    [Objective] To improve the diagnosis rate, reduce mortality and morbidity of congenital heart disease, summarize the early diagnosis of congenital neart disease characteristics. [Methods] From January 2008 -December 2010, 61 neonatal children with congenital heart disease admitted to our hospital were diagnosed by color Doppler ultrasound, retrospectively analyzed to the clinical features of children with congenital heart disease performance and auxiliary examination. [ Re-Sults] The qolor Doppler ultrasound investigation showed that newborns with congenital heart disease mainly were found with ventricular septal defect, followed by atri^l septal defect. CR film showed expansion of the heart shadow in 20 cases (32.7%) , lung field congestion in 16 patients (26.2%), lung field ischemia in 9 patients (14.8%) . ECG showed right ventricular hypertrophy in 20 cases (32.7%), ECG left side in 9 cases (14.8%), arrhythmia in 8 patients (13.1%) , supraventricular brady-cardia in 3 patients (4.9%), sT-segment depression in 1 case (1.6%). [Conclusion] Neonatal congenital heart disease is deficiency in clinical manifestations, shortness of breath is common, and the majority pathological type is ventricular septal defect. Color Doppler ultrasound examination is with a unique advantage.%[目的]为提高临床诊断率,降低先心病病死率及致残率,总结新生儿先天性心脏病患者早期诊断特点.[方法]选择2008年1月-2010年12月住院新生儿科的先心病患儿共61例,所有患儿均经过彩色多普勒超声明确诊断,回顾分析心儿先天性心脏病临床特征性表现及各辅助检查结果.[结果]彩超查显示,新生儿先天性心脏病中以室间隔缺损居多,其次为房间隔缺损.CR拍片显示心影扩大者20例(32.7%),肺野淤血者16例(26.2%),肺野缺血者9例(14.8%).心电图检查显示右室肥厚者20例(32.7%),心电左偏者9例(14.8%),心率不整者8例(13.1%),室上性心动过缓者3例(4.9%),s-T段压低者1

  11. Ritual relieved axial dystonia triggered by gaze-evoked amaurosis.

    Science.gov (United States)

    Jacome, D E

    1997-11-01

    A woman with chronic posttraumatic axial lateropulsion cervical dystonia ("belly dancer's head") found relief of her spontaneous dystonic spasms by the sequential performance of an elaborate motor ritual. During an episode of left optic papillitis caused by central retinal vein occlusion, gaze-evoked amaurosis of the left eye developed, preceded by achromatopsia, during left lateral gaze. Gaze-evoked amaurosis triggered axial dystonia, which was followed by her unique, stereotyped, dystonia-relieving ritual that simulated a slow dance. Visual symptoms improved progressively in 1 year. Eventually, she was unable to trigger her dystonia by eye movements. Spontaneous dystonia remained otherwise unchanged from before the episode of papillitis and was still relieved by her unique ritual.

  12. Value of intravenous digital subtraction angiography for amaurosis fugax

    Energy Technology Data Exchange (ETDEWEB)

    Horio, Shunji; Uchida, Sunao

    1987-07-01

    We performed intravenous digital subtraction angiography (IVDSA) in 12 cases of amaurosis fugax to evaluate the arteries in the head and neck region. We could detect stenosis or irregularity in the arterial wall in 5 cases (46 %). These 5 cases were treated with surgical or medical antiplatelet therapy. Amaurosis fugax disappeared in all treated cases. We also performed IVDSA in 11 cases with obstructive retinal vascular diseases. Stenosis of internal carotid artery was detected in one case (9 %). IVDSA proved thus to be of value in detecting abnormalities of carotid artery and its tributaries. While it is unlikely that IVDSA will replace conventional intraarterial angiography, IVDSA is much safer than direct arterial puncture and does not require admission in hospital.

  13. Metachronous Bilateral Testicular Leydig-Like Tumors Leading to the Diagnosis of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome

    Directory of Open Access Journals (Sweden)

    Josip Vukina

    2015-01-01

    Full Text Available A 33-year-old male with a history of left testis Leydig cell tumor (LCT, 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs and “testicular tumors of the adrenogenital syndrome” (TTAGS. Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH.

  14. Interobserver agreement in detailed prenatal diagnosis of congenital heart disease by telemedicine using four-dimensional ultrasound with spatiotemporal image correlation

    NARCIS (Netherlands)

    Adriaanse, B.M.; Tromp, C.H.; Simpson, J.M.; Mieghem, T. van; Kist, W.J.; Kuik, D.J.; Oepkes, D.; Vugt, J.M. van; Haak, M.C.

    2012-01-01

    OBJECTIVE: To evaluate the clinical accuracy of four-dimensional (4D) echocardiography in the detailed prenatal diagnosis of congenital heart disease (CHD) in a telemedicine setting. METHODS: Ten second-trimester spatiotemporal image correlation (STIC) volumes were sent to three observers in differe

  15. The utility of ultrasonography for the diagnosis of developmental dysplasia of hip joint in congenital muscular torticollis.

    Science.gov (United States)

    Park, Hyeng Kue; Kang, Eun Young; Lee, Sung Hoon; Kim, Kyoung Min; Jung, A Young; Nam, Doo Hyoun

    2013-02-01

    To determine whether a routine ultrasonography (US) is necessary for diagnosis of developmental dysplasia of hip (DDH), presenting with congenital muscular torticollis (CMT). Cases of 133 patients (81 males, 52 females) diagnosed as CMT were reviewed, retrospectively. We reviewed the medical charts and diagnostic examination. We also assessed the coincidence of CMT and DDH, and investigated the clinical features of CMT related to DDH. Twenty (15.0%) patients out of 133 CMT patients were diagnosed as having DDH by US. Of whom, 8 patients were radiographically positive and 4 patients were both clinically and radiographically positive. Nine patients were treated with a harness and 1 of them needed closed reduction and casting. Out of 9 patients treated with a harness, only 4 were clinically positive. The difference and ratio of the sternocleidomastoid (SCM) muscle thickness between the normal and abnormal side was significantly greater in DDH patients (p=0.014). Further, receiver operating characteristic analysis showed when the SCM ratio is greater than 2.08 and the SCM difference is greater than 6.1 mm, the efficiency of US for the diagnosis of the DDH was found to be the best (p<0.05). To evaluate DDH, physical examination showed low sensitivity and radiologic study has limitation for the child before 4 to 6 months of age. Therefore, we recommend that hip is screened by US for the diagnosis of DDH associated with CMT when physical examination is positive or CMT patients with large SCM difference and high SCM ratio.

  16. Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy

    Science.gov (United States)

    Verma, Ritu; Jana, Manisha; Bhalla, Ashu Seith; Kumar, Arvind; Kumar, Rakesh

    2016-01-01

    Aural atresia is a rare congenital malformation of the external and middle ear. There are several syndromic associations of this anomaly with those involving the first and second branchial arches. Occurrence of aural atresia with sclerosing skeletal dysplasia is unknown and has never been reported. The co-existence of a sclerosing dysplasia can make the surgical treatment in aural atresia difficult and risky; and the auditory improvement may not be as expected. Moreover, internal auditory canal narrowing and hence sensorineural hearing loss in sclerosing dysplasia might add to the already existing conductive hearing loss in such patients. In this case report we have described an unknown association of bilateral microtia with sclerosing skeletal dysplasia (autosomal dominant osteopetrosis) and clinical implications of these two conditions occurring together leading to a change in the management plan. PMID:27170934

  17. Optimizing the parasitological diagnosis of congenital toxoplasmosis - doi: 10.5102/ucs.v11i2.2564

    Directory of Open Access Journals (Sweden)

    Marcos Gontijo Silva

    2013-12-01

    Full Text Available Early diagnosis of congenital toxoplasmosis is highly important, since it can make the treatment possible and reduces sequela for the infant. Serological diagnosis alone cannot be accurate when it does not identify the IgA, IgM or IgG antibodies of low avidity, which do not cross the placent barrier. Therefore, parasitemic identification is important to be carried out by demonstrating the parasite in the peritoneal exsudatum of mice inoculated with suspected biological material, however such method is little sensitive and too much time-consuming. This research study aims at optimizing mice inoculation through serological screening, and encephalic histopathology, in order to identify whether there was contamination. Out of 138 fetuses and/or newborn samples taken from pregnant women positive for active toxoplasmosis inoculated intraperitoneally in mice, only 5 showed positive through parasite demonstration in the peritoneal exsudatum. Histopathology showed the agent in 45 cases and in 67 the presence of anti-toxoplasmas antibodies in the mice bloodstream by using indirect immunofluorescence technique. Mice serology and encephalic histopathology in addition to reducing the amount of time necessary for the outcomes from 120 to 60 days increased the positivity of 3.6% to 50.4% and 33.8%, respectively.

  18. The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

    Science.gov (United States)

    Cassio, A; Corbetta, C; Antonozzi, I; Calaciura, F; Caruso, U; Cesaretti, G; Gastaldi, R; Medda, E; Mosca, F; Pasquini, E; Salerno, M C; Stoppioni, V; Tonacchera, M; Weber, G; Olivieri, A

    2013-03-01

    The Italian screening program for primary congenital hypothyroidism (CH) is an integrated system including neonatal screening, diagnosis, treatment, follow-up, and nationwide surveillance of the disease. The aim of the Italian screening program for CH is to identify not only babies with severe permanent CH (core target), but also babies with mild persistent and transient forms of CH who could have a benefit from an early replacement therapy (secondary target). In the last years, despite the important results obtained in terms of standardization of screening and follow-up procedures, it has become clear the need of optimizing the program in order to harmonize the screening strategy and the screening procedures among Regions, and to improve the diagnostic and therapeutic approach in all affected infants. On the basis of available guidelines, the experience of the Italian screening and clinical reference centers, and the knowledge derived from the nation-wide surveillance activity performed by the Italian National Registry of Infants with CH, the Italian Society for Pediatric Endocrinology and Diabetology together with the Italian Society for the Study of Metabolic Diseases and Neonatal Screening and the Italian National Institute of Health promoted actions aimed at improving diagnosis, treatment, follow-up and surveillance of CH in our country. In this paper the most important actions to improve the Italian screening program for CH are described. ©2013, Editrice Kurtis

  19. Sonographic Diagnosis in a Rare Aetiology of Neonatal Scrotal Swellings: A Case Report of Congenital Nephrotic Syndrome

    Science.gov (United States)

    Grover, Shabnam Bhandari; Kumar, Nishith; Grover, Hemal; Taneja, Dinesh Kumar; Katyan, Amit

    2016-01-01

    Summary Background Common etiologies of scrotal swelling in neonates include hydrocoele, inguinal hernia and testicular torsion; less common is epididymo-orchitis. Congenital nephrotic syndrome (CNS), a rare entity, is known to present as progressive renal failure and its leading presentation with scrotal involvement has not been reported. Material/Methods We report a rare case of CNS with primary clinical presentation as scrotal cellulitis and epididymo-orchitis. In this neonate, scrotal and abdominal ultrasound examination was performed and the laboratory data were obtained. Results Sonography revealed bilaterally enlarged echogenic kidneys, testis and epididymis with echogenic peritoneal fluid tracking into both scrotal sacs. Laboratory data revealed proteinuria and severe depletion of serum IgG. Culture of the peritoneal fluid showed gram-negative organisms. A final diagnosis of CNS, complicated with peritonitis tracking into the scrotal sacs was arrived at. Conclusions CNS may have a rare presentation with distracting symptoms of scrotal cellulitis and epididymo-orchitis, as seen in our patient. However, diligent use of abdomino-scrotal sonography, supported by relevant laboratory data can clinch the accurate diagnosis. PMID:27757175

  20. Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy

    OpenAIRE

    Leen Abu Safieh; Al-Otaibi, Humoud M.; Richard Alan Lewis; Igor Kozak

    2016-01-01

    To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA) and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L). Case 2 describes a girl with marked nystagmus, photophobia, and re...

  1. 先天性膈疝的诊断与治疗%Diagnosis and treatment of congenital diaphragmatic hernia

    Institute of Scientific and Technical Information of China (English)

    刘文英

    2016-01-01

    先天性膈疝(CDH)是由于单侧或双侧膈肌发育缺损导致腹腔内脏器疝入胸腔的一种先天畸形性疾病.由于常合并有不同程度的肺发育不良和其他异常,肺发育不良的程度决定了手术治疗的效果,改善肺发育不良是治疗的关键问题.通过B超等可以产前做出早期诊断,并可以帮助判断预后及选择更好的手术时机,腔镜手术具有微创优势,是治疗CDH的趋势.%Congenital diaphragmatic hernia(CDH) is one of the critical congenital malformations disease which caused the defects of the diaphragmatic hernia,the hernia of the abdominal viscera into the thoracic cavity and the dysplasia of the lung because of the abnormal development of the embryo.The degree of pulmonary hypoplasia determined the curative effect of surgical treatment,so it is a key problem to improve the condition of pulmonary hypoplasia in treatment of CDH.Now it is feasible to make early prenatal diagnosis,predict outcomes and select the best operative opportunity of CDH with ultrasonography.It is a trend to treat CDH with endoscopic surgery of the minimally invasive operation.This article focuses on the latest diagnostics,treatment and new research progress of CDH,and summarized as follows.

  2. Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

    Directory of Open Access Journals (Sweden)

    Javier Sánchez

    2012-01-01

    Full Text Available Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14, and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

  3. [DNA-diagnosis of congenital diseases in companion animals and the role of the practicing veterinarian].

    Science.gov (United States)

    Ubbink, G J; Stades, F C; Rothuizen, J

    2002-04-15

    The knowledge on the impact of gene defects on the development of disease in companion animals is increasing rapidly. The gene defects may be differentiated in an initiating defect, which is the cause of illness, and a promoting defect, which enhances the chance on illness. Up till now only initiating defects are known in dogs and cats. All this is of great importance for breeding purposes, because within a breed there is narrow relationship which means the genetic diversity is small, and with all the disadvantages thereof. The identification in good time of gene defects in breeding animals, so that these animals being excluded from breeding, is of utmost importance in preventing congenital diseases. For that reason more and more the owners will appeal to veterinary surgeons to cooperate in procedures to screen potential breeding animals, or to declare the animals free from gene defects. The problems with regard to the diagnostic tests, including the DNA-tests, and their predictive values are discussed.

  4. Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy.

    Science.gov (United States)

    Yamamoto, Lydia U; Gollop, Thomas R; Naccache, Nadyr F; Pavanello, Rita C M; Zanoteli, Edmar; Zatz, Mayana; Vainzof, Mariz

    2004-09-01

    Congenital muscular dystrophies (CMD) are characterized by neonatal hypotonia and/or artrogriposis associated with a dystrophic muscle biopsy. The CMD1A form is caused by a deficiency of the alpha2 chain of laminin 2 (LAMA2 gene at 6q2), a protein present in the basal lamina of muscle fibers, in Schwann cells, epidermis, and in fetal trophoblastic tissue. This allows its study for prenatal diagnosis in the chorionic villous (CV), which was performed in a family with one deceased affected CMD1A child. Immunohistochemical analysis of the CV using antibodies against the C- and N-terminal domains of the alpha2-laminin protein showed a normal positive labeling for both antibodies in the "at-risk" CV, which did not differ from the normal control CV. The integrity of the CV membrane was confirmed through the analysis with antibodies against alpha1, beta1, and gamma1 laminins. DNA study using markers flanking the 6q2 region showed that the affected patient and the "at-risk" fetus did not share the same haplotype. Therefore, the fetus was considered normal through both methodologies, which was confirmed after the birth of a clinically normal male baby. As the LAMA2 gene is very large and the spectrum of mutations causing disease is wide, the analysis of the protein in muscle biopsy has been largely used for the diagnosis. Besides, the possibility to detect it in the chorionic villous, mainly using positive markers, also offers a powerful tool for prenatal diagnosis.

  5. [Congenital hypothyroidism--a diagnosis made by abdominal x-ray?].

    Science.gov (United States)

    Schneider, K; Knorr, D; Butenandt, O; Fendel, H

    1986-12-01

    Meteorism in a newborn may be a symptom of different diseases including hypothyroidism. It is caused by a disturbed peristalsis of the gut. Since in rare cases - as demonstrated in one infant - obligatory screening for hypothyroidism may be missed, meteorism should be considered a serious symptom and should lead to the right diagnosis before too much time is lost.

  6. Diagnosis of congenital Trypanosoma cruzi infection: A serologic test using Shed Acute Phase Antigen (SAPA) in mother-child binomial samples.

    Science.gov (United States)

    Volta, Bibiana J; Russomando, Graciela; Bustos, Patricia L; Scollo, Karenina; De Rissio, Ana M; Sánchez, Zunilda; Cardoni, Rita L; Bua, Jacqueline

    2015-07-01

    Chagas congenital infection is an important health problem in endemic and non-endemic areas in which Trypanosoma cruzi-infected women can transmit the parasite to their offspring. In this study, we evaluated the antibody levels against the T. cruzi Shed Acute Phase Antigen (SAPA) in 91 binomial samples of seropositive pregnant women and their infected and non-infected children by ELISA. In 70 children without congenital T. cruzi transmission, the titers of anti-SAPA antibodies were lower than those of their seropositive mothers. In contrast, 90.5% of 21 congenitally infected children, at around 1 month of age, showed higher anti-SAPA antibody levels than their mothers. Subtracting the SAPA-ELISA mother OD value to the SAPA-ELISA child OD allowed efficient detection of most T. cruzi congenitally infected children immediately after birth, when total anti-parasite antibodies transferred during pregnancy are still present in all children born to seropositive women. A positive correlation was observed between parasitemia levels in mothers and infants evaluated by quantitative DNA amplification and anti-SAPA antibody titers by ELISA. As SAPA serology has proved to be very efficient to detect T. cruzi infection in mother-child binomial samples, it could be of extreme help for early diagnosis of newborns, in maternities and hospitals where DNA amplification is not available. This prompt diagnosis may prevent drop out of the long-term follow-up for future diagnosis and may ensure early trypanocidal treatment, which has proved to be efficient to cure infants with congenital Chagas disease.

  7. The prognosis of surgically treated congenital hydronephrosis after diagnosis in utero

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Mortensen, T; Diemer, Henrik;

    1985-01-01

    Nine patients with a prenatal ultrasonic diagnosis of unilateral ureteropelvic junction obstruction underwent pyeloplasty in early neonatal life. Based on radiological and renographical assessment of the results, immediate postnatal intervention had no demonstrable advantage over those subjects...... in a control group who underwent an operation after presenting with symptoms. Half of the children in both groups had normal parenchymal function of the hydronephrotic kidney. Because of the operative complications we found it unacceptable to operate on neonates without symptoms and with normal function...... of the affected kidney. The advantage of prenatal diagnosis lies in the early recognition of the necessity of close surveillance. The primary indications for surgical intervention should be symptoms and impairment of the hydronephrotic kidney function....

  8. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Energy Technology Data Exchange (ETDEWEB)

    Grassi, Marcília S., E-mail: marcilia.grassi@hc.fm.usp.br; Jacob, Cristina M. A. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Kulikowski, Leslie D. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Pastorino, Antonio C. [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil); Dutra, Roberta L. [Departamento de Patologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Miura, Nana; Jatene, Marcelo B. [Instituto do Coração - HC-FMUSP, São Paulo, SP (Brazil); Pegler, Stephanie P.; Kim, Chong A.; Carneiro-Sampaio, Magda [Instituto da Criança - HC-FMUSP, São Paulo, SP (Brazil)

    2014-11-15

    To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  9. Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

    Directory of Open Access Journals (Sweden)

    Marcília S. Grassi

    2014-11-01

    Full Text Available Background: To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS in patients with congenital heart disease (CHD. Objective: To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods: The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18 and/or MLPA (n = 42, in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results: CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%. Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60% and/or elongated nose (53.3%, narrow palpebral fissure (50%, dysplastic, overfolded ears (48.3%, thin lips (41.6%, elongated fingers (38.3% and short stature (36.6%. Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM in two other patients. Conclusion: Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

  10. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

    Science.gov (United States)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    2012-05-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.

  11. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

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

  12. Late diagnosis and surgical treatment of patients diagnosed with unilateral congenital cataract at Fundación Visión, in Asuncion, Paraguay

    Directory of Open Access Journals (Sweden)

    Manuel Zegarra

    2014-10-01

    Full Text Available Purpose: Providing data on the late diagnosis and surgical treatment of patients who underwent surgery for total unilateral congenital cataract. Methods: Systematic retrospective review of the medical record of all patients between 0 and 16 years old with total unilateral congenital cataract who underwent surgery at Fundación Vision between January 2010 and July 2012. Results: Medical records of 37 patients (51 % females were studied, age was 7.4 (± 4.9 years (average ± SD and 62% lived on Departamento Central (the most populated region from Paraguay. A total of 97.3% patients underwent late surgical treatment and 86.5% received a late diagnosis. The average time elapsed between the diagnosis and the surgical treatment was one month, and 62.2% of the patients underwent surgery within six months from the diagnosis. Conclusion: This study evidences that most of the patients in our series had a late treatment as a result of a late diagnosis. Based on these results we recommend establishing strategies to improve the early detection and surgical treatment of the newborns.

  13. Prenatal diagnosis and clinical significance of fetal congenital heart disease%胎儿先天性心脏病产前诊断与临床意义

    Institute of Scientific and Technical Information of China (English)

    叶林

    2012-01-01

    Congenital heart disease is one of the most common birth defects.In early pregnancy,congenital heart disease screening methods mainly include neck translucency thickness measurement,ductus venosus flow measurement and fetal echocardiography.In the second trimester fetal heart disease most directly by fetal ultrasound examination for diagnosis of heartbeat,besides cardiac anatomic abnormalities,arrhythmia the diagnosis and assessment of heart function also are the important examination content.Focusing on more congenital heart disease related gene researches can provide reliable basis for prenatal diagnosis.Through the fetal congenital heart disease screening intervention,physicians can help early formulation of clinical decision making,alleviate the burden of the families,which has obvious social and economic benefits.%先天性心脏病是最常见的出生缺陷之一.孕早期先天性心脏病筛查的方法主要有颈后透明层厚度测量、静脉导管血流测量以及直接进行胎儿超声心动图检查等.孕中期绝大部分的胎儿心脏病可以直接通过胎儿超声心动图检查获得诊断,除心脏解剖结构畸形外,心律失常的诊断以及心功能的评估也是重要检查内容.加强先天性心脏病的相关基因研究,也能够为产前诊断提供可靠依据.对胎儿先天性心脏病进行筛查干预,能够帮助医生早期制定临床决策,缓解家庭负担,有明显的社会效益.

  14. 胎儿先天性膈疝MRI诊断的探讨%MRI diagnosis of fetal congenital diaphragmatic hernia

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘

    2009-01-01

    目的 探讨MRI在胎儿先天性膈疝诊断中的应用价值.方法 14名孕妇,孕龄16~39周.产前常规行超声(US)检查怀疑胎儿先天性膈疝后在24-48 h内行MR检查,采用二维快速平衡稳态采集(2D FIESTA)序列、单次激发快速自旋回波(SSFSE)序列以及快速反转恢复运动抑制(FIRM)序列,行胎儿颅脑、胸、腹部常规及胸腹部重点冠状面、矢状面及横断面扫描,将产前MRI、US表现与出生后影像表现或手术(13例胎儿)、引产后尸体解剖(1例胎儿)结果对照.结果 12例为单胎,2例为双胎之一.膈疝位于左侧12例,右侧2例.随访结果与产前MRI诊断完全一致,产前US误诊2例、漏诊2例.12例左侧疝中1例为左胸部被巨大结肠占据,1例仅整个胃泡疝入,5例仅部分肠管疝入,5例整个胃泡和部分肠管同时疝入;2例右侧疝中1例仅部分肠管疝入,1例为肝脏部分和部分肠管同时疝入.结论 MRI对胎儿先天性膈疝诊断具有较高的应用价值.%Objective To explore the diagnostic value of MRI on fetal congenital diaphragmatic hernia(CDH).Methods Fourteen pregnant women with gestation from 16 to 39 weeks were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound studies.Fast-imaging employing steady-state acquisition(FIESTA),single-shot fast spin echo(SSFSE)and T_1-weighted fast inversion recovery motion insensitive(FIRM)sequences were employed on the axial,coronal and sagittal planes of the fetal brain,thorax and abdomen,especially the thorax.Prenatal US and MR imaging findings were compared with postnatal diagnoses(13 fetuses)or autopsy(1 fetus).US,MR imaging and surgery were used for postnatal evaluation.Results Fourteen pregnant women(12 with a single fetus and 2 with twin fetuses)were studied.There were 12 fetuses(in 2 cases,being one of twins)with a left-sided and 2 with right-sided diaphragmatic hernias.For all cases,the prenatal MRI diagnosis Was correct when compared with

  15. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Iman S. Abumansour

    2015-10-01

    Full Text Available Background - Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS, Carpenter syndrome, and Meckel syndrome. Aim - In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method - Single nucleotide polymorphism (SNP array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions - Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  16. Prenatal Diagnosis of Walker–Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus

    Science.gov (United States)

    Abumansour, Iman S.; Al Sulmi, Eman; Chodirker, Bernard N.; Hunt, Jennifer C.

    2015-01-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families. PMID:26495167

  17. Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

    Science.gov (United States)

    Abumansour, Iman S; Al Sulmi, Eman; Chodirker, Bernard N; Hunt, Jennifer C

    2015-10-01

    Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

  18. Evaluation of IgG anti-toxoplasma avidity and polymerase chain reaction in the postnatal diagnosis of congenital toxoplasmosis.

    Science.gov (United States)

    Torres, Elizabeth; Rivera, Raul; Cardona, Nestor; Sanchez, Victor; Lora, Fabiana; Gómez-Marín, Jorge Enrique

    2013-06-01

    Confirmatory tests for congenital toxoplasmosis were evaluated in 23 infected and 31 uninfected newborns. Conventional polymerase chain reaction was better than real-time polymerase chain reaction, but did not identify additional cases. Avidity tests added 2 new cases that were not identified by other criteria. Overall sensitivity was 82.6%. Avidity assay, but not polymerase chain reaction, increased the sensitivity of confirmatory assays in congenital toxoplasmosis.

  19. Detection of Unstable Carotid Plaque by Tissue Doppler Imaging and Contrast-Enhanced Ultrasound in a Patient with Recurrent Amaurosis Fugax

    Directory of Open Access Journals (Sweden)

    Hagen Kunte

    2013-01-01

    Full Text Available Ultrasound (US is one of the most important diagnostic tools available for the detection and evaluation of carotid stenosis. The case of a 70-year-old woman with recurrent right-sided amaurosis fugax presented here highlights the way in which tissue Doppler imaging (TDI and contrast-enhanced US (CEUS may aid in the diagnosis of carotid plaque vulnerability. Furthermore, the novel inverse fly-through technique was used for the three-dimensional visualization of the carotid stenosis.

  20. Congenital and acquired neutropenia consensus guidelines on diagnosis from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).

    Science.gov (United States)

    Fioredda, Francesca; Calvillo, Michaela; Bonanomi, Sonia; Coliva, Tiziana; Tucci, Fabio; Farruggia, Piero; Pillon, Marta; Martire, Baldassarre; Ghilardi, Roberta; Ramenghi, Ugo; Renga, Daniela; Menna, Giuseppe; Barone, Angelica; Lanciotti, Marina; Dufour, Carlo

    2011-07-15

    Congenital and acquired neutropenia are rare disorders whose frequency in pediatric age may be underestimated due to remarkable differences in definition or misdiagnosed because of the lack of common practice guidelines. Neutropenia Committee of the Marrow Failure Syndrome Group (MFSG) of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica) elaborated this document following design and methodology formerly approved by the AIEOP board. The panel of experts reviewed the literature on the topic and participated in a conference producing a document which includes a classification of neutropenia and a comprehensive guideline on diagnosis of neutropenia. Copyright © 2011 Wiley-Liss, Inc.

  1. Parenting an infant with a congenital anomaly: An exploratory study on patterns of adjustment from diagnosis to six months post birth.

    Science.gov (United States)

    Fonseca, Ana; Nazaré, Bárbara; Canavarro, Maria Cristina

    2014-06-01

    The present study examined psychological adjustment in parents of infants with congenital anomalies (CAs), focusing on the interval from the disclosure of the diagnosis to six months after the infant's birth and considering the effects of the parent's gender and the timing of diagnosis (pre- vs postnatal). Within-group diversity was also examined by identifying distinct patterns of individual adjustment over time. Parents of 43 infants (43 mothers and 36 fathers) with a pre- or postnatal diagnosis of a CA answered questionnaires assessing psychological distress and quality of life one month after the disclosure of the diagnosis and six months after the infant's birth. Results showed a significant reduction in psychological distress and a significant increase in physical quality of life over time, for both parents, regardless of the timing of diagnosis. In all, 57% of parents presented a pattern of recovery from diagnosis to six months post birth and 26.6% presented a pattern of resilience. However, 15.2% of parents showed chronic adjustment difficulties. Findings suggest that most parents tend to adjust to their infant's CA, although some experienced difficulties and should be targeted for specialised counselling. Both members of the couple should be acknowledged, as both experience similar patterns of adjustment.

  2. Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1

    OpenAIRE

    Coppieters, Frauke; Todeschini, Anne Laure; Fujimaki, Takuro; Baert, Annelot; DE BRUYNE, MARIEKE; Van Cauwenbergh, Caroline; Verdin, Hannah; Bauwens, Miriam; Ongenaert, Maté; Kondo, Mineo; Meire, Françoise; Murakami, Akira; Veitia, Reiner A; Leroy, Bart; De Baere, Elfride

    2015-01-01

    ABSTRACT Leber congenital amaurosis (LCA) is a severe autosomal‐recessive retinal dystrophy leading to congenital blindness. A recently identified LCA gene is NMNAT1, located in the LCA9 locus. Although most mutations in blindness genes are coding variations, there is accumulating evidence for hidden noncoding defects or structural variations (SVs). The starting point of this study was an LCA9‐associated consanguineous family in which no coding mutations were found in the LCA9 region. Explori...

  3. [The role of hormone analysis in the nosologic diagnosis and in the control of treatment of congenital primary hypothyroidism].

    Science.gov (United States)

    Shilin, D E; Shvora, N M; Pykov, M I; Ibragimova, G V; Krotkov, F F; Riabykh, A V; Ponkratova, T S; Kasatkina, E P

    2003-08-01

    A total of 125 children and teenagers, aged 1 to 15 (including 74 patients with primary congenital hypothyroidism--CH--and 51 healthy children), were investigated in the city of Moscow for the purpose of elaborating new approaches towards the differentiated diagnostics of CH and of optimizing the assessment of the adequacy of its substitutive hormonal therapy (SHT). The concentrations of the thyrotropic hormone (TTH), free fractions of triiodothyronine and thyroxin (cT3 and cT4), thyreoglobulin (Tg) and of thyreoid peroxidase (hard-phase test-tube method, electro-chemiluminescent reaction, i.e. magnetic microparticles, based on the streptovidin-biotin technology; ruthenium mark at the "Elecsys 1010" analyzer with reagents manufactured by "F. Hoffman--La Rosh Ltd.", Switzerland.) were determined early in the morning on the empty stomach. On the basis of the above mentioned, the thyroid reserve index (TRI = Tg/TG), integral thyroid index (ITI = [cT3 + cT4]/TTG), and the integral of peripheral conversion (IPC = cT3/cT4) were calculated. The thyroid gland (TG) was visualized by the "Acuson-128 XP" ultrasonic device, "Acuson Corp.", USA, with a linear sensor of 10 Mhz, as well as by the "Toshiba-90B" gamma-chamber, Japan, with a low-energy collimator in 24 hours after an oral intake of sodium iodide marked by the iodine 123-isotope with an activity of 50 Mbc and after the cessation of SHT 3 to 5 weeks before. The complex diagnosis revealed 8 variations of primary CH; aplasia and TG dystopia and defects of the synthesis of the sodium-iodine symporter or Tg-concentration were found to belong to the most severe disease types according to hormonal parameters. As for Tg, in 52% of cases it was normal, undeterminable--23% and higher--25%. A simultaneously implemented ultrasonic scanning (USS) ensured a final diagnosis in subgroups, respectively, in all cases, in 25% and in 75% of patients. On the whole, after the two diagnostic stages (Tg + USS/ITR), the indications for

  4. Congenital Short Bowel Syndrome : from clinical and genetic diagnosis to the molecular mechanisms involved in intestinal elongation

    NARCIS (Netherlands)

    van der Werf, Christine S.; Halim, Danny; Verheij, Joke B. G. M.; Alves, Maria M.; Hofstra, Robert M. W.

    2015-01-01

    Congenital Short Bowel Syndrome (CSBS) is a rare gastrointestinal disorder in which the mean length of the small intestine is substantially reduced when compared to its normal counterpart. Families with several affected members have been described and CSBS has been suggested to have a genetic basis.

  5. Performance of Polymerase Chain Reaction Analysis of the Amniotic Fluid of Pregnant Women for Diagnosis of Congenital Toxoplasmosis: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    2016-01-01

    Introduction Congenital infection caused by Toxoplasma gondii can cause serious damage that can be diagnosed in utero or at birth, although most infants are asymptomatic at birth. Prenatal diagnosis of congenital toxoplasmosis considerably improves the prognosis and outcome for infected infants. For this reason, an assay for the quick, sensitive, and safe diagnosis of fetal toxoplasmosis is desirable. Goal To systematically review the performance of polymerase chain reaction (PCR) analysis of the amniotic fluid of pregnant women with recent serological toxoplasmosis diagnoses for the diagnosis of fetal toxoplasmosis. Method A systematic literature review was conducted via a search of electronic databases; the literature included primary studies of the diagnostic accuracy of PCR analysis of amniotic fluid from pregnant women who seroconverted during pregnancy. The PCR test was compared to a gold standard for diagnosis. Results A total of 1.269 summaries were obtained from the electronic database and reviewed, and 20 studies, comprising 4.171 samples, met the established inclusion criteria and were included in the review. The following results were obtained: studies about PCR assays for fetal toxoplasmosis are generally susceptible to bias; reports of the tests’ use lack critical information; the protocols varied among studies; the heterogeneity among studies was concentrated in the tests’ sensitivity; there was evidence that the sensitivity of the tests increases with time, as represented by the trimester; and there was more heterogeneity among studies in which there was more time between maternal diagnosis and fetal testing. The sensitivity of the method, if performed up to five weeks after maternal diagnosis, was 87% and specificity was 99%. Conclusion The global sensitivity heterogeneity of the PCR test in this review was 66.5% (I2). The tests show low evidence of heterogeneity with a sensitivity of 87% and specificity of 99% when performed up to five weeks

  6. Congenital Hypothyroidism

    Science.gov (United States)

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

  7. 64-Slice CT Angiography in Diagnosis of Congenital Heart Disease in Children%64排CTA在小儿先天性心脏病的应用

    Institute of Scientific and Technical Information of China (English)

    时胜利; 陈志平; 冯东曚

    2013-01-01

    Objective To investigate the value of 64-slice CT angiography(CTA) and post-processing(reconstruction) technique in the diagnosis of children with congenital heart disease.Methods The clinical and CT data of children with congenital heart disease undergoing CT angiography from April 2010 to March 2012 in our hospital were analyzed to summarize the diagnosis method of post-processing(reconstruction) technique.Results All 73 patients with congenital heart disease were confirmed by CT angiography,in which 40 cases were with complex congenital heart disease,17 cases with atrial septal defect,43 cases with ventricular septal defect,7 cases with patent ductus arteriosus,5 cases with pulmonary artery stenosis,1 case with congenital atresia of pulmonary artery,22 cases with right ventricular outflow tract obstruction,3 cases with anomalous pulmonary venous connection,2 cases with aortic stenosis,4 cases with persistent left superior vena cava,3 cases with right aortic arch.As compared with ultrasonography and surgical outcomes,there was no obvious difference among them.Conclusion 64-slice CT angiography and post-processing reconstruction technique has significant practical value in diagnosis of children congenital heart disease.%目的 探讨64排CTA对小儿先天性心脏病的诊断价值及后处理重建方法.方法 收集整理郑州市儿童医院2010年4月-2012年3月期间经64排心脏CTA检查患儿的临床及CT资料并进行分析,总结小儿先天性心脏病64排CTA后处理诊断方法.结果 73例经64排CTA检查的先天性心脏病患儿均能明确诊断,其中复杂先心病40例,有房间隔缺损者17例,有室间隔缺损者43例,有动脉导管未闭者7例,有肺动脉狭窄者5例,先天性肺动脉闭锁1例,有右室流出道狭窄者22例,有肺静脉异位引流者3例,有主动脉狭窄者2例,永存左上腔静脉4例,右位主动脉弓3例.与彩超及手术结果比较差异无统计学意义.结论 小儿先天性心脏病的64

  8. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

    Science.gov (United States)

    Wang, Xia; Feng, Yanming; Li, Jianli; Zhang, Wei; Wang, Jing; Lewis, Richard A; Wong, Lee-Jun

    2016-01-01

    When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives. We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy. Pathogenic variants, including single nucleotide variations and copy number variations, were identified in 9 patients, including 6 with variants in syndromic retinal disease genes and 3 whose molecular diagnosis could not be distinguished easily from their submitted clinical diagnosis, accounting for 21% (9/42) of the unsolved cases. Our study underscores the clinical and genetic heterogeneity of retinal disorders and provides valuable reference to estimate the fraction of clinical samples whose retinal disorders could be explained by genes not specifically associated with the corresponding clinical diagnosis. Our data suggest that sequencing a larger set of retinal disorder related genes can increase the molecular diagnostic yield, especially for clinically hard-to-distinguish cases.

  9. 'Spinal amaurosis' (1841). On the early contribution of Edward Hocken to the concept of neuromyelitis optica.

    Science.gov (United States)

    Jarius, S; Wildemann, B

    2014-02-01

    While the history of classical multiple sclerosis has been extensively studied, only little is known about the early history of neuromyelitis optica (Devic's syndrome). Here we discuss a forgotten report by Edward Octavius Hocken (1820-1845) published in The Lancet in 1841. Hocken's report is important from a historic point of view for two reasons. Firstly, apart from a French language report by Antoine Portal, no earlier case of spinal cord inflammation and amaurosis is known. Secondly and much more importantly, Hocken, who upon his untimely death at the age of just 25 years was honoured by his contemporaries as a "precocious talent" of "very early reputation", in that article propagated the novel concept of 'spinal amaurosis', i.e. the concept of acute amaurosis and spinal cord disease being pathogenetically connected. Hocken's ideas predate Devic and Gault's seminal works on 'neuromyelitis optica' by more than 50 years.

  10. Congenital heart defects and medical imaging.

    Science.gov (United States)

    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

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

  11. 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.

  12. 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.

  13. CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis

    Science.gov (United States)

    Occelli, Laurence M.; Tran, Nicholas M.; Narfström, Kristina; Chen, Shiming; Petersen-Jones, Simon M.

    2016-01-01

    Purpose Mutations in the retinal transcription factor cone-rod homeobox (CRX) gene result in severe dominant retinopathies. A large animal model, the Rdy cat, carrying a spontaneous frameshift mutation in Crx, was reported previously. The present study aimed to further understand pathogenesis in this model by thoroughly characterizing the Rdy retina. Methods Structural and functional changes were found in a comparison between the retinas of CrxRdy/+ kittens and those of wild-type littermates and were determined at various ages by fundus examination, electroretinography (ERG), optical coherence tomography, and histologic analyses. RNA and protein expression changes of Crx and key target genes were analyzed using quantitative reverse-transcribed PCR, Western blot analysis, and immunohistochemistry. Transcription activity of the mutant Crx was measured by a dual-luciferase transactivation assay. Results CrxRdy/+ kittens had no recordable cone ERGs. Rod responses were delayed in development and markedly reduced at young ages and lost by 20 weeks. Photoreceptor outer segment development was incomplete and was followed by progressive outer retinal thinning starting in the cone-rich area centralis. Expression of cone and rod Crx target genes was significantly down-regulated. The mutant Crx allele was overexpressed, leading to high levels of the mutant protein lacking transactivation activity. Conclusions The CrxRdy mutation exerts a dominant negative effect on wild-type Crx by overexpressing mutant protein. These findings, consistent with those of studies in a mouse model, support a conserved pathogenic mechanism for CRX frameshift mutations. The similarities between the feline eye and the human eye with the presence of a central region of high cone density makes the CrxRdy/+ cat a valuable model for preclinical testing of therapies for dominant CRX diseases. PMID:27427859

  14. fMRI of retina-originated phosphenes experienced by patients with Leber congenital amaurosis.

    Directory of Open Access Journals (Sweden)

    Manzar Ashtari

    Full Text Available A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli. Previous reports regarding phosphenes have primarily focused on externally induced phosphenes such as by applying alternating or direct current to the cortex. A few of these reports used functional magnetic resonance (fMRI to study activations induced by cortical phosphenes. However, there are no fMRI reports on spontaneous phosphenes originating from the retina and the resulting pattern of cortical activations. We performed fMRI during a reversing checkerboard paradigm in three LCA patients who underwent unilateral gene therapy and reported experiencing frequent phosphene on a daily basis. We observed bilateral cortical activation covering the entire visual cortices when patients reported experiencing phosphenes. In contrast, in the absence of phosphenes, activation was regulated by patient's visual ability and demonstrated improved cortical activation due to gene therapy. These fMRI results illustrate the potential impact of phosphene perception on visual function and they may explain some of the variability that clinicians find in visual function testing in retinal degeneration. Although we did not perform correlations between visual function and phosphenes, we hope data presented here raises awareness of this phenomenon and its potential effect on visual function and the implications for clinical testing. We recommend a thorough history for phosphene experiences be taken in patients with retinal disease who are candidates for gene or molecular therapy. Lastly, these data illustrate the potential power of fMRI as an outcome measure of gene therapy and the negative impact phosphenes may have on vision testing. fMRI has proven to be a sensitive, non-invasive, and reproducible test paradigm for these purposes and can complement standard visual function testing.

  15. Electrophysiological assessment of the retina in children with congenital nystagmus

    Directory of Open Access Journals (Sweden)

    Alma Beharić

    2012-06-01

    Results: Abnormal ERG in both eyes was found in 20 of the 100 children under the study. Sensory nystagmus was classified in 40 of the children, in 12/40 of the children with abnormal ERG the following retinal abnormalities were observed: Leber congenital amaurosis in 6/12 children, suspected congenital stationary night blindness in 3/12 children and suspected achromatopsia in 3/12 children. In the group of neurological nystagmus (35 children 5 children had abnormal ERG that could not be explained in the context of broader clinical picture. In the group with idiopathic nystagmus (21 children all chidren had normal ERG. Conclusions: In infants with congenital nystagmus, it is possible to record ERGs with skin electrodes that can provide important information on normal or abnormal retinal function already in the first few months after birth.

  16. Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity.

    Science.gov (United States)

    Phillips, C I; Levy, A M; Newton, M; Stokoe, N L

    1987-08-01

    Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.

  17. Initial diagnosis of the congenital disorder of glycosylation PMM2-CDG (CDG1a) in a 4-year-old girl after neurosurgical intervention for cerebral hemorrhage.

    Science.gov (United States)

    Stefanits, Harald; Konstantopoulou, Vassiliki; Kuess, Magnus; Milenkovic, Ivan; Matula, Christian

    2014-11-01

    The congenital disorder of glycosylation characterized by a deficiency of phosphomannomutase 2 (PMM2-CDG) is the most common variant of congenital disorders of glycosylation. Besides typical clinical features, such as dysmorphism and abnormal body fat distribution, coagulation abnormities often lead to thromboembolic and hemorrhagic events in these patients. However, only 2 cases of intracerebral bleeding in patients with PMM2-CDG have been described so far. A 4-year-old girl who initially presented with symptoms resulting from raised intracranial pressure underwent acute neurosurgical intervention for intracranial hemorrhage. The differential diagnoses after MRI included arteriovenous malformation and intraparenchymal brain tumor. However, clinical investigations promoted the diagnosis of PMM2-CDG, which was supported further by neuropathological findings and finally confirmed by isoelectric focusing and mutational analysis. No major complications or neurological deficits were evident after surgery, and the patient was able to attend an integrated kindergarten. Unexplained intracranial hemorrhage should raise suspicion of a metabolic disorder and should be discussed with specialists to rule out an orphan disease such as PMM2-CDG.

  18. [Usefulness of a real-time quantitative polymerase-chain reaction (PCR) assay for the diagnosis of congenital and postnatal cytomegalovirus infection].

    Science.gov (United States)

    Reina, J; Weber, I; Riera, E; Busquets, M; Morales, C

    2014-05-01

    Cytomegalovirus (CMV) is the main virus causing congenital and postnatal infections in the pediatric population. The aim of this study is to evaluate the usefulness of a quantitative real-time PCR in the diagnosis of these infections using urine as a single sample. We studied all the urine samples of newborns (PCR (PCRc), and quantitative real-time PCR (PCRq). We analyzed 332 urine samples (270 to rule out congenital infection and 62 postnatal infections). Of the first, 22 were positive in the PCRq, 19 in the PCRc, and 17 in the culture. PCRq had a sensitivity of 100%, on comparing the culture with the rest of the techniques. Using the PCRq as a reference method, culture had a sensitivity of 77.2%, and PCRc 86.3%. In cases of postnatal infection, PCRq detected 16 positive urines, the PCRq 12, and the cell culture 10. The urines showed viral loads ranging from 2,178 to 116,641 copies/ml. The genomic amplification technique PCRq in real time was more sensitive than the other techniques evaluated. This technique should be considered as a reference (gold standard), leaving the cell culture as a second diagnostic level. The low cost and the automation of PCRq would enable the screening for CMV infection in large neonatal and postnatal populations. Copyright © 2013 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  19. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  20. Incidence of selective ultrasound screening in congenital hip dislocation diagnosis. Incidencia del screening ecografico selectivo en el diagnostico de la luxacion de cadera

    Energy Technology Data Exchange (ETDEWEB)

    Gonzalez Llorente, J.; Alonso Roca, S.; Garcia Urbon, M.; Malillos Perez, E.

    1994-01-01

    For the purpose of reducing the number of cases of late-diagnosed congenital hip dislocations, of the 1149 infants born in the province of Segovia during 1992, ultrasound exploration of the hip was performed in 297 who presented risk factors or abnormalities detected at physical examination. Of these, 16(1.4%) presented femoral head instability (13 subluxated or dislocated, and 3 susceptible to subluxation). Among this group, only 3 infants, versus a mean of 8 cases in preceding years, in whom radiolography was performed as a complementary study, were over four months old at the time of the exploration. Thus, it can be concluded that the use of ultrasound as a selective screening method significantly reduces the age at which diagnosis is feasible.

  1. Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

    NARCIS (Netherlands)

    Hillen, L.M.; Kamsteeg, E.J.; Schoots, J.; Tiebosch, A.T.; Speel, E.J.; Roemen, G.M.; Peutz-Koostra, C.J.; Stumpel, C.T.

    2016-01-01

    Congenital nephrotic syndrome (CNS) caused by a mutation in the Wilms tumor 1 suppressor gene (WT1) is part of Denys Drash Syndrome or Frasier syndrome. In the framework of genetic counseling, the diagnosis of CNS can be refined with gene mutation studies on long-term stored formalin-fixed paraffin-

  2. Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy

    Energy Technology Data Exchange (ETDEWEB)

    Fugazzola, Laura; Vannucchi, Guia; Mannavola, Deborah; Beck-Peccoz, Paolo [University of Milan and Fondazione Policlinico IRCCS, Department of Medical Sciences, Milan (Italy); Persani, Luca [University of Milan and Istituto Auxologico Italiano, Department of Medical Sciences, Via Zucchi, Cusano, Milan (Italy); Carletto, Marco; Longari, Virgilio [Fondazione Policlinico IRCCS, Department of Nuclear Medicine, Milan (Italy); Vigone, Maria C.; Cortinovis, Francesca; Weber, Giovanna [Universita Vita-Salute S. Raffaele, Centro di Endocrinologia dell' Infanzia e dell' Adolescenza, Milan (Italy); Beccaria, Luciano [A. Manzoni Hospital, Paediatric Unit, Lecco (Italy)

    2007-09-15

    Prompt initiation of l-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological diagnosis is thus postponed until after infancy, when the required investigations are performed after l-thyroxine withdrawal. The aim of this study was to verify the efficacy and safety of new protocols for rhTSH (Thyrogen) testing during l-thyroxine replacement in the differential diagnosis of CH. Ten CH patients (15-144 months old) were studied. Seven had neonatal evidence of gland in situ at the ultrasound examination performed at enrolment and received two rhTSH injections (4 {mu}g/kg daily, i.m.) with {sup 123}I scintigraphy and perchlorate test on day 3. Three patients with an ultrasound diagnosis of thyroid dysgenesis received three rhTSH injections with {sup 123}I scintigraphy on days 3 and 4. TSH and thyroglobulin (Tg) determinations were performed on days 1, 3 and 4, and neck ultrasound on day 1. rhTSH stimulation caused Tg levels to increase in eight cases. Blunted Tg responses were seen in two patients with ectopia and hypoplasia. Interestingly, in two cases the association of different developmental defects was demonstrated. Perchlorate test revealed a total iodide organification defect in two patients, including one with a neonatal diagnosis of Pendred's syndrome, who were subsequently found to harbour TPO mutations. rhTSH did not cause notable side-effects. These new rhTSH protocols always resulted in accurate disease characterisation, allowing specific management and targeted genetic analyses. Thus, rhTSH represents a valid and safe alternative to l-thyroxine withdrawal in the differential diagnosis of CH in paediatric patients. (orig.)

  3. A fatal case of primary cardiac chondrosarcoma presenting with amaurosis fugax

    DEFF Research Database (Denmark)

    Sundbøll, Jens; Hansson, Nils Henrik Stubkjær; Baerentzen, Steen

    2015-01-01

    A 64-year-old previously healthy woman consulted her general practitioner because of recurrent episodes of right-sided monocular transient visual loss (ie, amaurosis fugax). At first, these symptoms were followed over time, but as the attacks worsened, and were accompanied by dizziness and general...

  4. Congenital syphilis, still a reality.

    Science.gov (United States)

    Gupta, Rajat; Vora, Rita V

    2013-01-01

    Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. Even one case of congenital syphilis is a sentinel public health event, since timely diagnosis and treatment of syphilis infected pregnant woman should prevent transmission almost entirely. Here, we are reporting a case of early symptomatic congenital syphilis presented with severe desquamating papulosquamous lesions over multiple body parts along with erosive lesions around oral cavity and nostrils.

  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. 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

  7. (18)F-FDG-PET/CT angiography in the diagnosis of infective endocarditis and cardiac device infection in adult patients with congenital heart disease and prosthetic material.

    Science.gov (United States)

    Pizzi, María N; Dos-Subirà, L; Roque, Albert; Fernández-Hidalgo, Nuria; Cuéllar-Calabria, Hug; Pijuan Domènech, Antonia; Gonzàlez-Alujas, María T; Subirana-Domènech, M T; Miranda-Barrio, B; Ferreira-González, Ignacio; González-López, Juan J; Igual, Albert; Maisterra-Santos, Olga; García-Dorado, David; Castell-Conesa, Joan; Almirante, Benito; Escobar Amores, Manuel; Tornos, Pilar; Aguadé-Bruix, Santiago

    2017-12-01

    Infective endocarditis (IE) and cardiac device infection (CDI) are a major complication in the growing number of patients with congenital heart disease (CHD) reaching adulthood. We aimed to evaluate the added value of (18)F-FDG-PET/CT angiography (PET/CTA) in the diagnosis of IE-CDI in adults with CHD and intravascular or intracardiac prosthetic material, in whom echocardiography (ECHO) and modified Duke Criteria (DC) have limitations because of the patients' complex anatomy. A prospective study was conducted in a referral center with multidisciplinary IE and CHD Units. PET/CTA and ECHO findings were compared in consecutive adult (≥18years) patients with CHD who have prosthetic material and suspected IE-CDI. The initial diagnosis using the DC and the diagnosis with the additional PET/CTA data (DC+PET/CTA) were compared with the final diagnostic consensus established by an expert team at three months. Between November-2012 and April-2017, 25 patients (15 men; median age 40years) were included. Cases were initially classified as definite in 8 (32%), possible in 14 (56%) and rejected in 3 (12%). DC+PET/CTA allowed reclassification of 12/14 (86%) cases initially identified as possible IE. The sensitivity, specificity, PPV, NPV, and accuracy of DC at IE suspicion were 39.1%/83.3%/90.4%/25.5%/61.2%, respectively. The diagnostic performance increased significantly with addition of PET/CTA data: 87%/83.3%/95.4%/61.5%/85.1%, respectively. PET/CTA also provided an alternative diagnosis in 3 patients with rejected IE, and detected pulmonary embolisms in 3 patients. PET/CTA was a useful diagnostic tool in the complex group of adult patients with CHD who have cardiac or intravascular prosthetic material and suspected IE or CDI, providing added diagnostic value to the modified DC (increased sensitivity) and improving case classification. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  8. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  9. Congenital Hypothyroidism

    Science.gov (United States)

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

  10. The diagnosis and treatment of congenital microphthalmos with orbital cyst%先天性小眼球合并眼眶囊肿诊断与治疗

    Institute of Scientific and Technical Information of China (English)

    黄冠南; 张虹; 汪东; 宋国祥

    2012-01-01

    Objective To investigate the clinical diagnosis and treatment of congenital microphthalmos with orbital cyst. Methods Choosing 19 patients (20 eyes) with congenital microphthalmos with orbital cyst,retrospective analyzed their clinical manifestations,imaging data,surgical treatment and postoperative effects.The clinical diagnosis and treatment were studied. Results Through imaging examinations (B ultrasound,CT and MRI etc.),the abnormal small eye and orbital cystic mass in congenital eye with orbital cyst,and the relationship between them were found.Removal of small eyes and cysts,and implanting hydroxyapatite orbital combined in 10 patients,improved the appearance and did not affect the orbital bone development.Three cases of simple removal of cysts were less impact on the appearance because of small eyes filled,and the eye balls might be developed continually.Two cases of blepharophimosis postoperative sutured were looked affected.Two patients using cyst fluid aspiration were reoccurred. Conclusions Congenital microphthalmos with orbital cyst can be diagnosed and confirmed by characteristic clinical and imaging examination (a small eye and cyst communication).Surgical treatment is removal of the cyst and a small eye combined with hydroxyapatite orbital implants.A small well-developed eye is advised to choose a simple removal of the cyst with eve repaired.%目的 探讨先天性小眼球合并眼眶囊肿的临床、影像诊断及治疗方法.方法 回顾分析19例(20只眼)先天性小眼球合并眼眶囊肿的临床表现、影像学资料、手术治疗过程及术后效果,研究该病的临床、影像诊断及治疗方法.结果 通过B超、彩超、CT及MRI等影像学检查,可发现先天性小眼球合并眼眶囊肿中发育异常的小眼球、眼眶内囊性肿物,典型病例两者之间存在沟通.10例患者同时摘除小眼球与囊肿并植入羟基磷灰石义眼台,有效改善外观,未影响眶骨发育.3例单纯摘除囊肿患者,

  11. CT and MRI Diagnosis of Congenital Pineal Cyst%松果体先天性囊肿的CT与MRI诊断

    Institute of Scientific and Technical Information of China (English)

    刘智惠; 林超; 李静伟; 王永奇

    2001-01-01

    目的 探讨松果体先天性囊肿的CT与MRI表现和特征。 材料与方法 搜集38例松果体先天性囊肿,回顾性对照分析其CT与MRI表现。 结果 38例松果体先天性囊肿均表现为囊性病变,有完整光滑均匀的囊壁且无异常强化,囊壁信号强度变化或CT值类似于灰质;囊液为长T1长T2水样信号,CT值与脑脊液近似。 结论 MRI是诊断松果体先天性囊肿的有效方法。%Objective To study CT and MRI signs and features of congenitalpineal cyst. Materials and Methods CT and MRI findings in 38 cases with congenital pineal cyst were retrospectively analyzed. Results The lesion in all cases presented as a cystic mass with an intact, smooth and sharp cystic wall which showed no abnormal enhancement. The signal intensity and CT value of the cyst wall were similar to those of gray matter of the brain. The cystic fluid displayed water signal intensity of long T1 and long T2, with its CT value similar to CSF. Conclusion MRI is an effective method for the diagnosis of congenital pineal cyst.

  12. 椎管内先天性肿瘤的诊断与治疗%Diagnosis and treatment of intraspinal congenital tumors

    Institute of Scientific and Technical Information of China (English)

    董月青; 张远征; 张赛; 尚爱加; 李建国

    2011-01-01

    目的 分析椎管内先天性肿瘤的临床特点、诊断及治疗方法.方法 回顾分析了2002年1月至2006年4月间在我院手术治疗的68例椎管内先天性肿瘤患者的临床资料,所有患者均行显微手术治疗,随访54例.结果 肿瘤全切18例,大部分切除40例,部分切除10例.表皮样囊肿22例,脂肪瘤20例,畸胎瘤14例,皮样囊肿8例,肠源性囊肿4例.随访2~6年,平均4.3年,症状明显改善42例,没有变化10例,恶化2例,无患者死亡.结论 先天性肿瘤多为良性病变,好发于青少年.术前MRI及CT分析和显微手术是治疗的关键.%Objective To investigate clinical characteristics, diagnosis and microsurgical treatment of intraspinal congenital tumors. Methods A total of 68 patients with intraspinal congenital tumors who were performed surgery from January 2002 to April 2006 were analyzed retrospectively. All patients received the microsurgical treatment and 54 patients were followed up. Results Gross total removal of tumors was achieved in 18 cases, subtotal removal in 40 cases, and partial removal in 10 cases. There were 22 cases of epidermoid cyst, 20 cases of lipoma, 14 cases of teratoma, 8 cases of dermoid cyst and 4 cases of enterogenous cyst. Post-operative neurological symptoms were improved in 42 patients, remained unchanged in 10 cases, and deterioated in 2 cases during follow-up of 2 ~ 6 years (average, 4.3 years). No dead case occurred. Conclusion The most congenital intraspinal cannal tumors are the benign ones. Pre-operative MR1 and CT and microsurgical treatment play a key role in the treatment of tumors.

  13. [Congenital bilateral absence of vas deferens: From diagnosis to assisted reproductive techniques - the experience of three centers].

    Science.gov (United States)

    Beauvillard, D; Perrin, A; Drapier, H; Ravel, C; Fréour, T; Férec, C; De Braekeleer, M; Amice, V

    2015-05-01

    To review the management with assisted reproductive technologies (ART) of men with congenital bilateral absence of vas deferens (CBAVD), associated with cystic fibrosis or not, after surgical retrieval [epididymal aspiration (MESA) or testicular biopsy (TESE)]. Multicenter retrospective study made of 2 groups: CBAVD and cystic fibrosis (CF) or CBAVD only (CF-RD). Two centers performed MESA (Brest and Nantes) and one TESE (Rennes). Sperm numeration, motility, vitality, morphology and nuclear maturity were measured in both centers performing MESA. Fertilization rate (TF) and cumulated progressive pregnancy rate by retrieved oocyte (TGC) were compared between centers following ART. Ninety patients underwent surgical retrieval between January 1996 and March 2013, 30 in the CF group and 60 in the CF-RD group. Semen parameters were comparable between groups and centers. Fifty-eight (22 in the CF group and 36 in the CF-RD group) patients received ART between April 1996 and October 2014. TF was 50% and 52% and TGC 26% and 32% in the CF group and CF-RD groups, respectively. The results did not differ between groups but TGC was higher in Rennes than in the other two centers. Both semen parameters and ART results are comparable and similar to those reported in the literature. As shown by the results obtained in Rennes, TESE seems to be more effective. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  14. 先天性右位心及合并畸形的超声心动图诊断%Echocardiographic diagnosis of congenital dextrocardia and cardiovascular anomaly

    Institute of Scientific and Technical Information of China (English)

    李玉珍; 金琪

    2009-01-01

    Objective To observe the echocardiographic diagnosis value of congenital dextrocardia and cardiovascular anomaly. Methods Seven-six patients with dextrocardia were classified according to Van Praagh's method. The cardiovascular anomalies were diagnosed by eehocardiography combined with operation results. Results Fourty-seven cases were mirror-image dextrecardia. 57.4 % of the 47 cases had concordant segmental connection, mostly with simple anomalies, including ASD and VSD with PH. Other patients with disconcordant segnental cormec tion were complicated with complex anomalies, including DORV, TGA, SV +PS or PAA. 23 cases were dextroversion, mostly with disconcordant segmental connection and complex anomalies, including DORV, SV, C-TGA and TGA + PS. 2 cases were left isomerism and 4 were right isomerism and these 6 cases presented with complex anomalies. Compared with the operation results, echocardiography could accurately detect congenital dextrocardia and cardiovas-cular anomalies, but there is still limitation for diagnosis of some anomalies. Conclusion Echocardiography can be the first choice for diagnosis of congenital dextrocardia.%目的 探讨经胸超声心动图对先天性右位心及合并畸形的诊断价值.方法 经胸超声心动图检查,按Van Praagh节段分析法对76例先天性右位心的结构进行诊断,并与手术对照分析.结果 76例先天性右位心患者中,镜像右位心47例,27例心室连接一致,大部分合并简单畸形,如房间隔缺损、室间隔缺损,多数伴有肺动脉高压;各节段连接不一致的均伴有复杂畸形,主要为右心室双出口、完全型大动脉转位、单心室伴肺动脉狭窄或肺动脉瓣闭锁.右旋心23例,21例伴有复杂畸形,主要为右心室双出口、单心室、矫正型大动脉转位、完全型大动脉转位合并肺动脉狭窄.左心房异构右位心2例,右心房异构4例,均合并复杂畸形.与手术对照,超声心动图能准确评估先天性右位

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

    Science.gov (United States)

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

    2013-09-01

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

  16. Imaging Diagnosis of Congenital Intestinal Membranous Atresia%先天性小肠膜式闭锁的影像学诊断

    Institute of Scientific and Technical Information of China (English)

    徐慧; 唐文伟; 张新荣

    2013-01-01

    目的:探讨影像学检查对先天性小肠膜式闭锁的诊断价值,提高对本病的认识.方法:回顾性分析17例2011年后收集经手术病理证实的先天性小肠膜式闭锁患儿的影像学资料.4例行腹部X线检查;3例行腹部CT加GI;8例行腹部X线加GI;1例行腹部X线、CT;1例行腹部X线、CT及GI.结果:主要X线检查示单泡征2例,双泡征7例,三泡征2例,多个小液平面3例;闭锁端呈盲袋样8例;肠旋转不良1例;主要CT表现:闭锁处呈截断样5例,门静脉及肠壁积气1例.手术结果示十二指肠降段闭锁7例,水平段起始部闭锁2例,十二指肠与空肠交界处闭锁2例,空肠闭锁5例,回肠闭锁1例;伴肠旋转不良2例.有孔隔膜4例.结论:腹部X线检查对本病诊断有重要价值,CT可作为补充检查手段.%Purpose:To study the value of different imaging examinations in diagnosis of congenital intestinal membranous atresia,and to improve the understand of this disease.Methods:Seventeen cases of congenital intestinal membrane atresia,which were confirmed by operation and pathology results,were analyzed retrospectively.Of all these cases,4 were undergone abdominal X-ray examination; 3 were undergone abdominal CT and GI; 8 were undergone abdominal X-ray and GI; 1 was undergone abdominal X-ray and CT; 1 was undergone abdominal X-ray,CT and GI.Results:The X-ray examination results showed that:2 cases were with single bubble sign; 7 cases with double bubble sign; 2 cases with three bubble sign;3 cases with multiple small fluid level; 8 cases with latching end like a blind punch; 1 case with intestinal malrotation.The CT examination results showed that:5 cases were with truncated atresia,1 case with pneumatosis of bowel wall and portal vein gas.Operation result showed that:7 cases were with descending duodenum atresia; 2 cases with atresia at the duodenal atresia horizontal section,2 cases with atresia at the junction of duodenum and jejunum,5 cases with

  17. 儿童先天性肠旋转不良的超声诊断价值%Value of ultrasound diagnosis in children with congenital intestinal malrotation

    Institute of Scientific and Technical Information of China (English)

    胡烈榛; 夏焙; 林洲; 于红奎; 王娟

    2013-01-01

    Objective To investigate the value of ultrasound diagnosis in children with congenital intestinal malrotation.Methods We analysis the ultrasound feature of 73 patients with congenital intestinal malrotation retrospectively,and evaluate the sensitivity and specificity of the ultrasound diagnosis.Results Ultrasound feature were including:(1) gastric,duodenal dilatation in 70 cases (95.89%) ; (2) small intestine of lower digestive tracts were empty,with no liquid or gas in 70 cases (79.45%) ; (3) mesenteric vessels had "spiral" sign in 52 cases (71.23%) ; (4) superior mesenteric artery (SMA) and superior mesenteric vein (SMV) malposition in 14 cases (19.18%) ; (5) thick-walled cystic mass in 8 cases(10.96%) ; (6) intestine invagination in 2 cases(2.74%).The "helical winding" of mesenteric vascular was the characteristical ultrasound diagnosis of midgut volvulus,of which the sensitivity and specificity were 87.72% and 87.50% respectively,and the positive predictive value was 96.15%.Conclusions The ultrasound feature of midgnt volvulus are characteristically.The relationship of ultrasound findings and pathologic types of intestinal malrotation are important to preoperative diagnosis and need more forward study.%目的 探讨儿童先天性肠旋转不良的超声诊断价值.方法 回顾分析73例先天性肠旋转不良患儿的术前声像图表现,评价超声诊断的敏感性和特异性.结果 声像图表现为:(1)胃、十二指肠扩张70例(95.89%);(2)下消化道肠管呈塌瘪状58例(79.45%);(3)肠系膜血管呈螺旋状盘曲52例(71.23%);(4)肠系膜上动脉(SMA)与肠系膜上静脉(SMV)位置关系异常14例(19.18%);(5)肠管囊性团块8例(10.96%);(6)肠套叠2例(2.74%).声像图显示肠系膜血管呈螺旋状盘曲对诊断中肠扭转的敏感性为87.72%、特异性为87.50%,对中肠扭转的阳性预测价值为96.15%.结论 中肠扭转的声像图表现具有特征性.肠旋转不良的声

  18. B型超声波诊断先天性肥厚性幽门狭窄%Diagnosis of Congenital Hypertrophic Pyloric Stenosis by Real Time Sonography

    Institute of Scientific and Technical Information of China (English)

    陈博渊; 韩湘珍; 唐伟椿; 孙建芳; 孟晓敏

    1988-01-01

    本文报道B超诊断先天性肥厚性幽门狭窄的方法,其影像特点为:胃内容呈涡流和滞留现象,肥厚幽门为椭园形暗区,大小为≥19×13mm,幽门壁厚5mm.作者认为B超优于钡餐X线检查,可以作为新生儿吐奶的筛选检查方法.%Real time sonography was performed for identification of congenital hypertrophic pyloric stenosis(CHPS)in 21 patients(19 males and 2 females)from June 1985 to July 1987.Their diagnosis was proved at operation in all cases.50-100 ml of sugar water was fed during sonographic examination.The characteristic image of CHPS includes:1.gastric reflux from the antrum backward and the possible simultaneous clinical vomiting;2.stasis of gastric content lasting over 30 minutes;3.hypertrophic pyloric mass which can be seen and measured about 19×13 mm;4.a thin thread-like shaddow passing through the center of the pylorus demonstrating its hypertrophied muscular wall which can be seen and measured around 5 mm in thickness.It is also discussed in this article that real time sonography can be utilized to differentiate stomach volvulus,pyloric web,pyloric spasm,and other functional vomiting.

  19. Comparison of 128-Slice Low-Dose Prospective ECG-Gated CT Scanning and Trans-Thoracic Echocardiography for the Diagnosis of Complex Congenital Heart Disease

    Science.gov (United States)

    Bu, Guilin; Miao, Ying; Bin, Jingwen; Deng, Sheng; Liu, Taowen; Jiang, Hongchun; Chen, Weiping

    2016-01-01

    Objective To compare prospective ECG-gated multi-slice computed tomography (MSCT) and trans-thoracic echocardiography (TTE) in the diagnosis of complex congenital heart disease (CHD). Methods This was a prospective study of consecutive patients with complex CHD (age ECG-gated 128-slice spiral CT in the week before surgery. Effective radiation dose (ED) was calculated from volume CT dose index (CTDIvol) and dose length product (DLP). Image quality (5-point scale) was assessed independently by two radiologists. Using surgical findings as the reference, the diagnostic capabilities of MSCT and TTE were compared. Results Thirty-five patients (19 males) aged 1.59±1.58 years (range, 3 days to 74 months) were included. CTDIvol, DLP and ED were 0.90±0.24 mGy, 12.9±4.7 mGy∙cm and 0.64±0.21 mSv (range, 0.358–1.196 mSv), respectively. Image quality score was 4.3±0.5, and all images met the diagnostic requirements. The sensitivity, specificity, positive predictive value, and negative predictive value for diagnosing CHD were 97.2%, 99.8%, 99.0%, and 99.5%, respectively, for MSCT, and 90.6%, 99.8%, 99.0%, and 98.4%, respectively, for TTE. MSCT not only had a higher sensitivity than TTE overall (97.2% vs. 90.6%; PECG-gated CT scanning has important clinical value in the diagnosis of complex CHD in children, complementing and extending the findings of TTE. PMID:27788237

  20. Methodological study on real-time three-dimensional echocardiography and its application in the diagnosis of complex congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    CHEN Guo-zhen; HUANG Guo-ying; LIANG Xue-cun; MA Xiao-jing; CHEN Wei-da; TAO Zi-yu; LIN Qi-shan

    2006-01-01

    Background Real-time three-dimensional echocardiography (RT-3DE) has made revolutionized improvements of cardiac imaging during the past few years. However, there is no standard examination method for RT-3DE so far. This study aimed to establish the diagnostic method of RT-3DE and evaluate its application in the diagnosis of complex congenital heart diseases (CHD).Methods Fifty patients with complex CHD were examined by RT-3DE with modes of Live 3DE and Full Volume. A series of novel volumetric views combined with Van Praagh sequential segmental approach were introduced to reveal the pathological morphology of the hearts, which were compared with the findings of two-dimensional echocardiography (2DE), angiography and cardiac surgery.Results In 50 patients, 190 image acquisitions of Full Volume were performed at several acoustic windows including subcostal, apical and parasternal regions. Among them, 94.2% (179/190) of image acquisitions were successful. Most sectional volumetric views could be clearly displayed in 92.6% of the successful image acquisitions. However, sectional volumetric views could not be clearly displayed in 7.4%, which was mainly due to poor perspective conditions of examination location, improper instrument multi-parameter setting and insufficient information of whole heart captured in Full Volume acquisitions. As compared with surgical findings and angiography, RT-3DE made correction to the diagnoses in 2 cases including 1 with corrected transposition of the great arteries and the other with single atrium and mitral cleft. The diagnoses initially made by 2DE for these 2 patients were double outlet right ventricle with transposition of the great arteries and complete atrio-ventricular septal defect.Conclusions RT-3DE can clearly display the pathological morphology of complex CHD by a series of novel volumetric views combined with sequential segmental approach through providing more spatial informative cardiovascular structures, which provides a

  1. Interest of nuclear medicine in the diagnosis of congenital and childhood hypothyroidism; Apports de la medecine nucleaire au diagnostic des hypothyroidies congenitales et de l'enfant

    Energy Technology Data Exchange (ETDEWEB)

    Clerc, J. [Hopital Necker, Medecine Nucleaire, 75 - Paris (France)

    2002-08-01

    The paediatric thyroid scan (PTS) remains a cornerstone test in guiding the etiological diagnosis of congenital hypothyroidism (CH). In hypothyroid babies, thyroxine therapy must be started immediately. A reliable PTS can be obtained in the following days even under T4 therapy. {sup 123}I is the isotope of choice since it provides quantitated images and a clinically relevant grading of dys-hormonal-genetic disorders. The dosimetry of {sup 123}I is lower than usually considered because iodine uptake is absent or low in most cases of CH and because the energy deposited within the colloid has no expected radiobiological detriment. PTS is a highly contributive, sensitive and reproducible test in identifying thyroid dysgenesis the most frequent etiology (70%) of permanent CH. Since agenesis requires a very careful T4 therapy monitoring, PTS is also of therapeutic interest. PTS can distinguish 3 types of dys-hormonal-genetic disorders (10%). In type 1, low uptake indicates a defective R-TSH or a NIS defect when {sup 123}I gastric uptake is absent. Type 2 - high uptake, goiter and positive perchlorate discharge test (PDT) - refers to organification defects (TPO, THOX1,2, Pendrin). Type 3 (goiter, high uptake, negative PDT) includes coupling defects, thyroglobulin abnormalities and dehalogenase deficiency. Main transient aetiologies (20%) of CH are iodine overload and blocking anti hR-TSH antibodies, while thyroiditis and dietary iodine overload are more frequent thereafter The molecular understanding of the defects involved in CH rapidly develops. However, precocious diagnosis, appropriate T4 therapy and sorting out the etiology are the most relevant parameters which determine the final clinical prognosis. (author)

  2. 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.

  3. 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.

  4. Congenital pachygyria

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    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  5. The performance of four molecular methods for the laboratory diagnosis of congenital toxoplasmosis in amniotic fluid samples

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    Leandro Emidio Teixeira

    2013-10-01

    Full Text Available Introduction Toxoplasmosis may be life-threatening in fetuses and in immune-deficient patients. Conventional laboratory diagnosis of toxoplasmosis is based on the presence of IgM and IgG anti-Toxoplasma gondii antibodies; however, molecular techniques have emerged as alternative tools due to their increased sensitivity. The aim of this study was to compare the performance of 4 PCR-based methods for the laboratory diagnosis of toxoplasmosis. One hundred pregnant women who seroconverted during pregnancy were included in the study. The definition of cases was based on a 12-month follow-up of the infants. Methods Amniotic fluid samples were submitted to DNA extraction and amplification by the following 4 Toxoplasma techniques performed with parasite B1 gene primers: conventional PCR, nested-PCR, multiplex-nested-PCR, and real-time PCR. Seven parameters were analyzed, sensitivity (Se, specificity (Sp, positive predictive value (PPV, negative predictive value (NPV, positive likelihood ratio (PLR, negative likelihood ratio (NLR and efficiency (Ef. Results Fifty-nine of the 100 infants had toxoplasmosis; 42 (71.2% had IgM antibodies at birth but were asymptomatic, and the remaining 17 cases had non-detectable IgM antibodies but high IgG antibody titers that were associated with retinochoroiditis in 8 (13.5% cases, abnormal cranial ultrasound in 5 (8.5% cases, and signs/symptoms suggestive of infection in 4 (6.8% cases. The conventional PCR assay detected 50 cases (9 false-negatives, nested-PCR detected 58 cases (1 false-negative and 4 false-positives, multiplex-nested-PCR detected 57 cases (2 false-negatives, and real-time-PCR detected 58 cases (1 false-negative. Conclusions The real-time PCR assay was the best-performing technique based on the parameters of Se (98.3%, Sp (100%, PPV (100%, NPV (97.6%, PLR (∞, NLR (0.017, and Ef (99%.

  6. 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.

  7. Congenital Syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-06-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  8. 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

  9. A Patient with a Right Atrium Mass and Congenital Heart Disease: A Challenging Diagnosis of a Stubborn Disease

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    Wenyan Wang

    2016-01-01

    Full Text Available Cardiac lymphoma is extremely rare. An intracardiac mass has rarely been reported to be the cardiac involvement of extranodal lymphoma. It is difficult to establish a final diagnosis via routine examinations. The ability of an echocardiogram to characterize tissue is limited; systemic (18F-FDG PET/CT scans provide important information for both staging and response assessment in patients with lymphoma. A 68-year-old Chinese male with a second patent foramen ovale (PFO and an interventricular septal defect presented at our institute with persistent fever, shortness of breath, repeated paroxysmal supraventricular tachycardia (PSVT attack, and rapidly progressing superior vena cava syndrome. The patient also presented with a mass located in the upper right atrium and superior vena cava which was detected by echocardiogram. (18F-FDG PET/CT scan revealed a pathological increase of (18F-FDG uptake in the atrial mass and several other extracardiac lymph nodes. Lymph node biopsy was positive for large B-cell lymphoma. Immunohistochemistry revealed intense and diffuse expression of CD20, CD10, BCL-6, and Ki-67. The patient died without any chemotherapy 18 days after hospital discharge.

  10. 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.

  11. A systematic review of trends and patterns of congenital heart ...

    African Journals Online (AJOL)

    lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and .... diagnosis, number of cases of congenital heart diseases ..... of 6% increase in the burden of VSD for every time pe-.

  12. 婴幼儿呕吐及先天性肥厚性幽门狭窄诊断分析%Analysis of diagnosis of infantile vomiting and congenital hypertrophic pyloric stenosis

    Institute of Scientific and Technical Information of China (English)

    王丽静; 赵海; 赵宏然; 宫术娟

    2015-01-01

    Objective:To analyze the causes of infant vomiting, congenital hypertrophic pyloric stenosis diagnosis. Methods:analyzed the clinical data of 2009. 1-2014. 2 in our hospital 185 cases of vomiting in infants, the retrospective analysis of diagnosis of congenital hypertrophic pyloric stenosis in children, and summarize the diagnosis anddifferential diagnosis. Results:among the 149 cases of vomiting caused bygastrointestinal and respiratory diseases;18 cases of intussusception;congenital hypertrophic pyloric stenosis in 12 cases;in oth-er 6 cases. Conclusion:The causes of infant vomiting is complicated, through the analysis of disease by imaging examination, could reduce or avoid misdiagnosis, missed diagnosis.%目的::分析婴幼儿呕吐原因,探讨先天性肥厚性幽门狭窄诊断要点。方法:分析2009年1月~2014年2月在我院就诊185例呕吐婴幼儿的临床资料,对确诊先天性肥厚性幽门狭窄的患儿回顾性分析,总结其诊断及鉴别诊断要点。结果:其中胃肠炎及呼吸道疾病所致呕吐149例;肠套叠18例;先天性肥厚性幽门狭窄12例;其它6例。结论:婴幼儿呕吐原因繁杂,通过分析病情借助影像学检查,可以降低或避免误诊、漏诊。

  13. 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.)

  14. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  15. Congenital alopecia universalis

    Directory of Open Access Journals (Sweden)

    Vicente de Jesús Alvarez Yabor

    2015-11-01

    Full Text Available Congenital alopecia universalis is a type of infrequent recessive autosomal alopecia caused by genetic mutations; it is characterized by the total or localized absence of hair due to any birth disorder. This is a case of a 4-year-old female patient born with total absence of hair, both her scalp and whole body; she received medical treatment without satisfactory results. All the investigations were within normal limits, the differential diagnosis was ruled out through the analysis of family medical history and not showing alterations in bone or teeth structure, as well as normal sweating; the final diagnosis was confirmed through a scalp biopsy that revealed dermis with rudimentary sebaceous glands, immature and scarce hair follicles and corneous plugs compatible with congenital alopecia universalis without associated defects. The patient is treated and followed in dermatology and psychology consultations. The clinical situation has not been resolved to the moment.

  16. The Value of Color Doppler Ultrasound in Diagnosis of Children with Congenital Heart Disease%彩色多普勒超声在小儿先天性心脏病中的诊断价值

    Institute of Scientific and Technical Information of China (English)

    陆燕; 向慧娟; 范建华

    2013-01-01

    Objective:To investigate the value of color doppler ultrasound (CDFI) in diagnosis of children with congenital heart disease. Methods:785 children suspected congenital heart disease were examined by CDFI, and 56 cases were detected out children with congenital heart disease. Results:The CDFI examination showed that the 3 first of 56 children with congenital heart disease cases in turn were the 18 cases of ventricular septal defect (32.1%), 15 cases of patent ductus arteriosus (26.8%) and 10 cases of atrial septal defect (17.9%), other types were three tricuspid atresia, three tricuspid valve down, complete endocardial cushion defect, pulmonary valve stenosis, tetralogy of fallot. Conclusion:The examination of CDFI in children with congenital heart disease had some advantages, such as non-invasive, safe, reliable and intuitive. It could significantly improve the diagnosis rate and positive rate of infantile congenital heart disease.%目的:探讨彩色多普勒超声(CDFI)在小儿先天性心脏病中的诊断价值。方法:采用CDFI对785例临床疑诊先天性心脏病患儿进行检查,共检出先天性心脏病患儿56例。结果:CDFI检查示56例小儿先天性心脏病病例中构成比前3位依次为室间隔缺损18例(32.1%),动脉导管未闭15例(26.8%)和房间隔缺损10例(17.9%),其他类型为三尖瓣闭锁、三尖瓣下移、完全性心内膜垫缺损、肺动脉瓣狭窄、法洛四联症等。结论:CDFI检查小儿先天性心脏病具有无创伤性、安全可靠和直观性等优点,可明显提高小儿先天性心脏病的诊断率和检出率。

  17. 儿童先天性脑积水的诊治探讨%Diagnosis and treatment of congenital hydrocephalus in children

    Institute of Scientific and Technical Information of China (English)

    刘智强; 刘水源; 林志雄; 梅文忠; 龚清永; 何理盛; 康德智; 吴喜跃

    2013-01-01

    目的 探讨并总结儿童先天性脑积水的诊治经验. 方法 回顾性分析福建医科大学附属第一医院神经外科自2007年6月至2011年6月收治的29例儿童先天性脑积水患者的临床资料,其中合并神经系统畸形27例,包括胼胝体缺如或发育不全6例、导水管狭窄5例、脑膜膨出3例、脊膜膨出3例、Dandy-Walker畸形2例、Chiari 1型畸形1例、脑灰质异位并脑裂畸形1例、脑发育不全1例、脑裂畸形1例、神经纤维瘤病1型1例、第四脑室囊肿1例、枕大池囊肿1例、透明隔囊肿1例;伴其他脏器畸形4例,包括胸7半椎体脊柱侧弯并右足马蹄内翻足1例、乳糜漏1例、腹股沟斜疝1例、脐疝1例.26例患者行脑室腹腔分流术,3例行囊肿腹腔分流术,均应用可调压分流管. 结果 29例患者中有效26例,疗效不佳3例.术后出现并发症13例,其中分流管感染3例,分流管近端堵塞或引流不畅3例,分流管腹腔端堵塞或引流不畅3例,硬膜下积液1例,硬膜下积液并硬膜下血肿1例,腹腔囊肿1例,分流管人右侧阴囊并阴囊肿胀1例. 结论 儿童先天性脑积水常合并脏器发育畸形,应注意相关检查以明确,并针对性治疗,以改善预后.%Objective To summarize the diagnosis and treatment experience of congenital hydrocephalus in children.Methods The clinical data of 29 children with congenital hydrocephalus,admitted to our hospital from June 2007 to June 2011,were analyzed retrospectively; in these patients,27 had combined nervous system malformations,including corpus callosum agenesis or hypoplasia in 6,aqueduct stenosis in 5,meningocele in 3,spinal meningocele in 3,Dandy-Walker malformation in 2,Chiaril malformation in 1,Heterotopic gray matter combined with schizencephaly in 1,atelencephalia in 1,schizencephaly in 1,neurofibromatosis type 1 in 1,fourth ventricle cysts in 1,arachnoid cyst in cerebello-medullary cistern in 1 and septum pellucidum cysts in 1; 4 was

  18. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

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

  19. Congenital Myopathy

    Science.gov (United States)

    ... evaluate the electrical activity of the muscle, a muscle biopsy, and genetic testing. There are currently seven distinct types of congenital myopathy, with some variation in symptoms, complications, treatment options, and outlook. Nemaline ...

  20. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  1. 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.)

  2. 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.

  3. A microplate reader-based method to quantify NADH-cytochrome b5 reductase activity for diagnosis of recessive congenital methaemoglobinemia.

    Science.gov (United States)

    Kedar, Prabhakar; Desai, Anand; Warang, Prashant; Colah, Roshan

    2017-05-01

    Congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 (CYB5R3) deficiencies is an autosomal recessive disorder that occurs sporadically worldwide, A sensitive, accurate, and rapid analysis of NADH-CYB5R enzyme concentrations is necessary for the diagnosis of RCM. Here we present an alternative microplate method that is based on a standard 96-well microplate format and microplate reader that simplify the quantification of NADH-CYB5R activity. TECAN (Infinite 200 PRO series) microplate reader with Tecan's proven Magellan™ software measured the NADH-CYB5R enzyme activity in 250 normal controls and previously diagnosed 25 cases of RCM due to NADH-CYB5R deficiency in the Indian population using 96-well microplates using 200 μl of total reaction mixture and also compared with standard spectrophotometric assay. We have also studied stability of the hemolysate stored at 4 and -20°C temperature. Enzyme activity in all 25 samples ranged from 6.09 to 10.07 IU/g Hb (mean ± SD: 8.08 ± 1.99 IU/g Hb) where as normal control ranged (n = 250) between 13.42 and 21.58 IU/g Hb) (mean ± SD: 17.5 ± 4.08 IU/g of Hb). Data obtained from the microplate reader were compared with standard spectrophotometer method and found 100% concordance using both methods. Microplate method allows differentiating between normal, deficient and intermediate enzyme activity. It was observed that samples had significant loss of activity when stored at 4°C and retained stable activity at -20°C for 1 week time. Our new method, incorporating a whole process of enzyme assay into a microplate format is readily applicable and allows rapid monitoring of enzyme assay. It is readily applicable to quantitative assay on pediatric sample as well as large number of samples for population screening.

  4. Congenital Plasmodium falciparum Malaria in Washington, DC.

    Science.gov (United States)

    Del Castillo, Melissa; Szymanski, Ann Marie; Slovin, Ariella; Wong, Edward C C; DeBiasi, Roberta L

    2017-01-11

    Congenital malaria is rare in the United States, but is an important diagnosis to consider when evaluating febrile infants. Herein, we describe a case of congenital Plasmodium falciparum malaria in a 2-week-old infant born in the United States to a mother who had emigrated from Nigeria 3 months before delivery. © The American Society of Tropical Medicine and Hygiene.

  5. 彩色多普勒超声在新生儿先天性心脏病诊断中的应用%Application of color doppler ultrasound in diagnosis of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    王刚强

    2011-01-01

    目的 探讨彩色多普勒超声诊断新生儿先天性心脏病的应用.方法 对有心脏杂音、胸片提示心影增大以及不明原因发绀等可疑先天性心脏病病例予彩色多普勒超声心动图检查,利用彩色多普勒血流显像仪,观察心脏各切面结构和彩色血流特征.结果 先天性心脏病中房间隔缺损45例(占50.56%),动脉导管未闭26例,室间隔缺损11例,三尖瓣下移畸形1例,心内膜垫缺损2例,先天性肺动脉扩张1例.结论 新生儿先天性心脏病的诊断主要依据是超声二维图及彩色多普勒血流图,新生儿的先心病中以房间隔缺损最常见.%Objective To explore the application of color doppler ultrasound diagnosis of congenital heart disease . Methods Using color Doppler flow imaging instrument to observe the heart of the section structure and color flow characteristics. Results Atrial septal defect with congenital heart disease in 45 cases (accounting for 50. 56% ), 26 cases of patent ductus arteriosus, ventricular septal defect in 11 cases, 1 case of Ebstein malformation, 2 cases of endocardial cushion defect, congenital pulmonary expansion 1 case. Conclusions The diagnosis of congenital heart disease is based on two - dimensional ultrasound and Color Doppler flow imaging, in congenital heart disease of the newborn the most common case is atrial septal defect.

  6. Clinical value of prenatal echocardiography in diagnosis of fetal congenital heart disease%产前超声心动图诊断胎儿先天性心脏病的临床价值

    Institute of Scientific and Technical Information of China (English)

    聂娅; 黄惠甜; 李秦莉; 李玲; 刘柳燕; 许裕珠; 丘玲

    2011-01-01

    目的:探讨产前超声心动图对胎儿先天性心脏病的诊断价值.方法:对2005年12月~2009年12月在佛山市顺德区妇幼保健院产前超声系统检查的孕20周~36周胎儿28 670例,对疑有先天性心脏病的胎儿,在四腔心切面、双流出道切面、三血管平面、主动脉弓切面进行胎儿超声心动图检查,最后确诊70例先天性心脏病胎儿,并对检查结果进行追踪和随访.结果:产前超声心动图诊断胎儿先天性心脏病70例,经引产后尸检及产后新生儿超声心动图检查证实,漏诊3例室间隔缺损,2例原发孔型房间隔缺损.以上切面对胎儿先天性心脏病敏感性95.8%,特异性为99.9%.70例中,胎儿单纯心脏畸形23例,占32.8%,复杂性畸形47例,占67.1%.结论:产前超声心动图对胎儿先天性心脏病有很高的诊断价值.%Objective: To explore the value of prenatal echocardiography in diagnosis of fetal congenital heart disease. Methods; 28 670 fetuses during 20 ~ 36 gestational weeks who received prenatal systematic inspection of ultrasound in the hospital from December 2005 to December 2009 were selected, for the fetuses suspected of congenital heart disease, fetal echocardiography was conducted on four - chamber view, double - outflow view, three - vein view and aortic ductus arch view, at last, 70 fetuses were diagnosed with congenital heart disease definitely, and the results were followed up. Results: 70 fetuses were diagnosed with congenital heart disease definitely by fetal echocardiography, then they were confirmed by autopsy after induced abortion and postpartum neonatal echocardiography, 3 fetuses with ventricular septal defect and 2 fetuses with primary atrial septal defect were missed diagnosed. The sensitivity and specificity of the above - mentioned views in diagnosis of congenital heart disease were 95. 8% and 99. 9% , respectively. Among 70 fetuses with congenital heart disease, 23 fetuses were diagnosed with simple

  7. SNP array用于先天性心脏病胎儿的产前诊断%Prenatal diagnosis of fetuses with congenital heart disease by SNP array

    Institute of Scientific and Technical Information of China (English)

    王艳; 张菁菁; 刘翠云; 胡平; 刘安; 许争峰

    2015-01-01

    目的:探讨单核苷酸多态性基因芯片( SNP array)在先天性心脏病( CHD)胎儿产前诊断中的临床应用价值。方法:选取102例产前超声诊断为CHD而核型分析未见异常并排除22 q11.2微缺失综合征的胎儿,采用SNP array技术进行遗传学检测。将102例胎儿分为单纯CHD胎儿组(66例)和合并心外结构异常CHD胎儿组(36例),对两组胎儿检出的基因组拷贝数变异( CNⅤs)性质按致病性CNⅤs、临床意义不明确的拷贝数变异(ⅤOUS)及良性CNⅤs进行分类。结果:102例CHD 胎儿中,良性 CNⅤs 的检出率为21.6%(22/102)、ⅤOUS的检出率为2.9%(3/102)、致病性CNⅤs的检出率为9.8%(10/102)。单纯CHD胎儿组和合并心外结构异常CHD胎儿组的致病性CNⅤs检出率分别为12.1%(8/66)和5.6%(2/36)。结论:SNP array技术具有高分辨率、准确等优点,对染色体核型分析结果正常的CHD胎儿进行SNP array检测,能额外发现部分致病性CNⅤs,在先天性心脏病胎儿的产前诊断中具有较强的临床应用价值。%Objective:To explore the clinical value of single nucleotide polymorphism (SNP array) performed in prenatal diagnosis of fetuses with congenital heart disease(CHD). Methods:SNP array was performed in 102 fetuses sonographically diagnosed with CHD, who have normal karyotype and negative results for 22q11. 2 deletion syndrome. The 102 fetuses were divided into two groups:isolated CHD (66) and CHD with extra cardiac structural abnor-malities ( 36 ) . Copy number variations ( CNⅤs ) were classified into three categories:benign CNⅤs,variant of uncertain significance (ⅤOUS) and pathogenic CNⅤs. Results:Benign CNⅤs were detected in 22/102 (21. 6%) cases.ⅤOUS were detected in 3/102 (2. 9%) cases. Path-ogenic CNⅤs were detected in 10/102 (9. 8%) cases. The detection rates of pathogenic CNⅤs for isolated CHD and CHD with extra cardiac structural abnormalities were 12 . 1%( 8/66 ) and 5. 6%(2/36),respectively

  8. 小儿先天性主动脉瓣上狭窄的超声诊断%Echocardiographic diagnosis of congenital supravalvular aortic stenosis in children

    Institute of Scientific and Technical Information of China (English)

    钱晶晶; 蒋国平; 何瑾; 叶菁菁

    2008-01-01

    目的 探讨小儿先天性主动脉瓣上狭窄(SVAS)的超声心动图特点及其诊断价值.方法 超声心动图在多个切面上检查诊断为主动脉瓣上狭窄的31例息儿,与心导管、手术及基因检测相对照.超声重点观察主动脉瓣、瓣上、主动脉弓降部、肺动脉瓣、主肺动脉及其左右分支、冠状动脉的超声改变.结果 沙漏样环形狭窄26例,全段管型狭窄4例,隔膜型狭窄1例.极轻度狭窄[狭窄处的最大瞬时压差(△P)75 mm Hg)4例.19例患儿基因检测诊断为Williams综合征.合并主动脉瓣狭窄3例,其中1例首次检查时漏诊.合并肺动脉狭窄10例,占32.26%.其中肺动脉瓣狭窄6例,左、右肺动脉狭窄3例,左右肺动脉分叉处狭窄1例.合并冠状动脉扩张6例.结论 胸骨旁及心尖五腔切面为诊断SVAS较好的切面,SVAS好发于Williams综合征的患儿,32.26%的患儿伴有肺动脉狭窄.对于SVAS患儿需常规检查冠状动脉的改变.%Objective To study the echocardiographic characteristics and its diagnosis value on congenital supravalvular aortic stenosis (SVAS) in children. Methods Thirty-one patients with SVAS diagnosed by multiplane echocardiography were enrolled in the study. Their echocardiographic characteristics were compared with cardiac catheterization, operation, and gene detection results. Echocardiographic changes were mainly observed in aortic valve, supravalve, descending aortic arch, pulmonary artery valve, main pulmonary artery and its branches,and coronary artery. Results Of the 31 patients,26 had hourglass type SVAS,4 hypoplastic type,and 1 membranous type; 2 patients had extremely mild stenosis (defined as a Doppler gradient 75 mm Hg) ones. Nineteen patients were diagnosed with Williams syndrome by gene detection. Three patients were associated with aortic valve stenosis including one missed at the initial diagnosis; 10(32.26%) patients with pulmonary stenosis, including pulmonary valve stenosis in 6, left and

  9. Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease

    Science.gov (United States)

    Jacques, ZANEVELD; Feng, WANG; Xia, WANG; Rui, CHEN

    2013-01-01

    Personalized medicine aims to utilize genomic information about patients to tailor treatment. Gene replacement therapy for rare genetic disorders is perhaps the most extreme form of personalized medicine, in that the patients’ genome wholly determines their treatment regimen. Gene therapy for retinal disorders is poised to become a clinical reality. The eye is an optimal site for gene therapy due to the relative ease of precise vector delivery, immune system isolation, and availability for monitoring of any potential damage or side effects. Due to these advantages, clinical trials for gene therapy of retinal diseases are currently underway. A necessary precursor to such gene therapies is accurate molecular diagnosis of the mutation(s) underlying disease. In this review, we discuss the application of Next Generation Sequencing (NGS) to obtain such a diagnosis and identify disease causing genes, using retinal disorders as a case study. After reviewing ocular gene therapy, we discuss the application of NGS to the identification of novel Mendelian disease genes. We then compare current, array based mutation detection methods against next NGS-based methods in three retinal diseases: Leber’s Congenital Amaurosis, Retinitis Pigmentosa, and Stargardt’s disease. We conclude that next-generation sequencing based diagnosis offers several advantages over array based methods, including a higher rate of successful diagnosis and the ability to more deeply and efficiently assay a broad spectrum of mutations. However, the relative difficulty of interpreting sequence results and the development of standardized, reliable bioinformatic tools remain outstanding concerns. In this review, recent advances NGS based molecular diagnoses are discussed, as well as their implications for the development of personalized medicine. PMID:23393028

  10. 四维彩超检查在胎儿先心病诊断中的临床应用%Clinical Application of Four-dimensional Color Doppler Ultrasonography in the Diagnosis of Fetal Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    谢广平; 贾立娟; 杜学谦

    2016-01-01

    ABSTRACT:Objective To analyze the application value of four-dimensional color Doppler ultrasonography in the diagnosis of fetal congenital heart disease, and to provide a reliable reference for clinical practice. Methods The research subjects in this study were 90 cases of fetus,whose gestational age were 25 to 40 weeks. All subjects were examined by four-dimensional color Doppler ultrasound. The results of four-dimensional color Doppler ultrasound examination of these studies subjects were retrospective analyzed,such as fetal heart rate, the four chamber view, the lfow of the chamber, etc..At the same time, the results of follow-up were retrospectively analyzed. The follow-up results and contrast the four-dimensional color Doppler ultrasound examination results were compared.The accuracy of the four-dimensional color Doppler ultrasound examination for diagnosis of fetal congenital heart disease were calculated ,in order to investigate the application value of four-dimensional color Doppler ultrasonography in the diagnosis of fetal congenital heart disease. Results In the study, 6 cases were diagnosed as congenital heart disease by four-dimensional color Doppler ultrasonography. Follow up results showed that 8 cases were eventually diagnosed as congenital heart disease in the study. By comparing the four-dimensional color Doppler ultrasound examination results and follow-up results, the diagnosis rate of four-dimensional color Doppler ultrasound examination was 75%, 1 cases was misdiagnosis, 1 cases was missed diagnosis. Conclusion Prenatal four-dimensional color Doppler ultrasound examination can improve the diagnostic rate of fetal congenital heart disease, and provide a reliable reference for the early intervention of congenital heart disease. Four-dimensional color Doppler ultrasound examination can be widely used in the diagnosis of fetal congenital heart disease, can provide referenc e for the early diagnosis and intervention of congenital heart disease

  11. Current Situation of Screening of Color Doppler Ultrasound in Diagnosis of Fetal Congenital Heart Disease%彩色多普勒超声对胎儿先天性心脏病的筛查现状

    Institute of Scientific and Technical Information of China (English)

    王玲红; 吴钟瑜

    2014-01-01

    先天性心脏病是一种常见的出生缺陷,居人类先天缺陷的首位,给家庭和社会带来了沉重负担,因此对其进行产前诊断极其重要。目前先天性心脏病的产前诊断主要通过两种途径,即超声检查及遗传学检查。超声检查的方法主要通过对胎儿早孕期及中晚孕期的筛查完成,从而判断胎儿是否存在先天性心脏病的可能。在孕期筛查包括:测量胎儿颈项透明层(nuchal translucency,NT)厚度、采集静脉导管血流频谱、三尖瓣反流、心脏结构扫查、时间-空间关联成像(STIC)技术的应用;中晚孕期筛查包括:腹部横切面、四腔心切面、左右室流出道长轴切面、三血管-气管切面、大动脉短轴切面、上下腔静脉长轴切面、主动脉弓长轴切面、动脉导管长轴切面等切面进行扫查。现就目前胎儿先天性心脏病的产前诊断在超声方面的开展现状情况作一综述,使胎儿先天性心脏病得到更有效的诊断,对产前优生选择、产后新生儿得到及时救治及提高人口出生素质等具有非常重要的意义。%Congenital heart disease is a common birth defects in human congenital defects, first, it brings a heavy burden to family and society, so it is extremely important for prenatal diagnosis. The prenatal diagnosis of congenital heart disease mainly through two ways, namely, ultrasonography and genetic testing. The main method of ultrasonic inspection is accomplished by screening for fetal early or middle-late pregnancy, so as to determine fetal congenital heart disease. During the screening includes:measurement of fetal nuchal translucency (nuchal translucency, NT) thickness, collecting venous duct lfow spectrum, tricuspid regurgitation, cardiac structure and scanning, the application of STIC technology;including middle-late pregnancy screening:the abdominal transverse section view, four chamber view, left and right ventricular

  12. 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.

  13. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

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

  14. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

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

  15. Congenital oesophageal hiatal hernia in a pug

    OpenAIRE

    Keeley B; Puggioni A; Pratschke K

    2008-01-01

    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 t...

  16. Computed tomography of common congenital lesions of the temporal bone

    Energy Technology Data Exchange (ETDEWEB)

    Yuen, H.Y. E-mail: drhyyuen@doctors.org.uk; Ahuja, A.T.; Wong, K.T.; Yue, V.; Hasselt, A.C. van

    2003-09-01

    This pictorial review describes the application of high-resolution computed tomography to the investigation and pre-operative work-up of the common lesions of congenital hearing loss, including congenital aural dysplasia, various congenital ossicular anomalies, inner ear dysmorphology, large vestibular aqueduct syndrome, and congenital absence of cochlear nerve and labyrinthitis ossificans from previous infection. The aim is to help radiologists to provide a more accurate diagnosis of underlying aetiology and assist in surgical planning.

  17. 婴幼儿先天性声门下血管瘤的诊断和治疗%Diagnosis and treatment of infantile congenital subglottic hemangioma

    Institute of Scientific and Technical Information of China (English)

    程岚; 黄琦; 吴皓; 杨军; 陈立; 张治华

    2009-01-01

    目的:探讨婴幼儿先天性声门下血管瘤的诊断和治疗.方法:9例患儿,反复喉喘鸣、喂哺困难及喉梗阻发作,电子支气管镜检查确诊为先天性声门下血管瘤.7例为声门下单侧病变,2例为双侧病变.其中8例采用气管切开后血管瘤内平阳霉素注射法进行治疗,术后患儿带金属气管套管出院,2周后门诊随访电子支气管镜复查,如果肿瘤未消失,再次行平阳霉素注射,直至肿瘤完全消失后进行堵管及拔管;1例单侧声门下血管瘤行瘤体吸割术,未行气管切开.结果:平阳霉素治疗的6例声门下单侧病变患者经过1次治疗后血管瘤完全消失,2例双侧病变患者经过2次治疗后血管瘤完全消失, 8例均顺利堵管及拔管.1例行声门下血管瘤吸割术患者,术后2周复查黏膜光滑,完全修复.结论:对于体积较大,阻塞声门下腔范围较广的血管瘤,采用气管切开后血管瘤内平阳霉素注射法,能迅速解除气道梗阻,缩短自然病程,且戴管时间短,无术后声门下狭窄,是一种安全有效的治疗措施.对于体积较小的声门下血管瘤,在麻醉配合良好的情况下,行吸割术并给予良好止血,可避免气管切开,起到微创效果.%Objective: To discuss the diagnosis and treatment of infantile congenital subglottic hemangioma. Method:Nine patients with recurrent stridor,feeding difficulties and laryngeal obstruction were diagnosed as con-genital subglottic hemangioma with bronchia endoscopy. The lesions were unilateral in 7 cases and bilateral in 2 ca-ses. Eight cases were treated by intralesional Pingyangmycin injection after tracheotomy. Patients were discharged with metal trachea and were followed up endoscopically 2 weeks thereafter. A second treatment would be required if the tumor reduced in size but not disappeared completely. Plugging tubes and extubation would be done when the tumor disappeared completely. One case with unilateral lesion underwent power

  18. [Congenital epulis].

    Science.gov (United States)

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

    2009-01-01

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

  19. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

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

  20. 超声诊断胎儿先天性心脏病的临床特点分析%Clinical characteristics analysis of ultrasound diagnosis of fetal congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    郭建红

    2014-01-01

    Objective To investigate the application value and characteristics of ultrasound in the diagnosis of congenital heart disease.Methods From April 2010 to April 2013,80 cases of congenital heart disease in the inpatient and outpatient of our hospital underwent prenatal fetal ultrasound were randomly selected.Prenatal echocardiographic and postpartum or induced labor autopsy results were compared.Theapplication value and characteristics of ultrasound in the diagnosis of congenital heart disease was analyzed.Results Forty-six cases (6.39‰) were prenatally diagnosed with congenital cyanotic heart disease,34 cases(4.72 ‰) were diagnosed with non-cyanotic heart disease; 47 cases(6.53‰) were diagnosed with congenital cyanotic heart disease by postnatal ultrasound,60 cases (8.33‰) were diagnosed with non-cyanotic heart disease.For diagnosis of non-cyanotic congenital heart diseases,the postpartum detection rate was higher,the prenatal detection rate and postpartum detection rate had significant difference (P < 0.05).For diagnosis of cyanotic congenital heart diseases,the prenatal detection rate and postpartum detection rate had no significant difference (P > 0.05).Conclusions Ultrasonography is a simple examination that can dynamically observe,non-invasive,non-radiation auxiliary diagnostic measures.In the diagnosis course of fetal congenital heart disease,congenital cyanotic heart disease has higher detection rate by prenatal ultrasound,so it has higher clinical application value.Although the detection rate of non-cyanotic heart disease is low,and the clinical application value is low,but the disease can be cured by surgery postpartum.%目的 探讨超声在胎儿先天性心脏病诊断中的应用价值及其特点.方法 随机选取中牟县人民医院2010年4月至2013年4月住院及门诊进行胎儿产前超声检查,经产后超声或尸检证实患先天性心脏病的患儿80例,将产前超声心动图与产后或引产尸检结果

  1. Diagnostic value of echocardiography in the diagnosis of congenital heart disease in fetus%超声心动图诊断胎儿先天性心脏病的应用价值

    Institute of Scientific and Technical Information of China (English)

    王方

    2012-01-01

      目的探讨产前胎儿超声心动图对先天性心脏病的诊断价值.方法2009年1月~2012年1月在我院行产前超声检查的孕妇,采用七切面顺序分段法对胎儿进行心脏检查,以产后新生儿超声心动图或尸检结果为诊断先天性心脏病的金标准.分析产前胎儿超声心动图对先心病的诊断的准确性.结果3095例胎儿中,产前诊断先心病36例,金标准诊断出40例,产前胎儿超声心动图诊断先心病的敏感性、特异性、阳性预测值和阴性预测值分别为87.5%、99.9%、97.2%和99.8%.结论产前胎儿超声心动图是诊断胎儿先天性心脏病准确和安全的方法.%  Objective To explore the value of fetal echocardiography in the diagnosis of congenital heart disease. Methods Fetal echocardiography were applyed on pregnant women who visited in our hospital from Jan 2009 to Jan 2012. Sev-en sequential segmental approach were performed to detect the heart of fetus. Echocardiography results of neonate and autopsy was considered as gold standard. Results Thirty six and forty congenital heart disease among 3 095 fetus were detected by e-chocardiography and gold standard respectively. Fetal echocardiography had a sensitivity of 87.5%,specificity of 99.9%,positive predictive value of 97.2% and negative predictive value of 97.2% to identify fetus with congenital heart disease. Conclusion Fetal echocardiography is safety and accurate in the diagnosis of congenital heart disease.

  2. Application of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations%螺旋CT在儿童漏斗胸合并其它先天性畸形中的应用价值

    Institute of Scientific and Technical Information of China (English)

    沈杰; 彭芸; 曾骐; 张祺丰; 曾津津

    2011-01-01

    Objective: To evaluate the value of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations. Methods: The clinical and imaging materials of 283 patients having pectus excavatum were retrospectively analyzed. The varieties and distribution of associated congenital malformations were recorded. Results :Of the 283 patients with pectus excavatum,47 patients (16.61 % ) associated with congenital malformations. Scoliosis was the most common malformation and accounted for 4.95%. According to the body systcms,the incidence rates were listed as follows : skeletal and muscular system (8.48 % ) , respiratory system (5.65 % ) , cardiovascular system ( 1.77 % ) , urinary system (1.06%) , respectively. Conclusion: Detailed anatomical information for the diagnosis of pectus excavatum associated with congenital malformation could be assessed on spiral CT,which provided important and accurate information for operation planning.%目的:探讨螺旋CT在漏斗胸合并其它先天性畸形中的应用价值.方法:回顾性分析283例手术前行螺旋CT检查并采用螺旋CT重组技术的漏斗胸患儿临床及影像资料,分类记录漏斗胸患儿合并各种其它先天性畸形的种类及分布比例.结果:本组漏斗胸病例中合并其它先天性畸形47例,占16.61%.其中合并脊柱侧弯的比例最大(4.95%).按系统的分类发病率依次为骨骼与肌肉系统(8.48%)、呼吸系统(5.65%)、心血管系统(1.77%)、泌尿系统(1.06%).结论:螺旋CT可为漏斗胸患儿提供术前的全面分析和综合评估,有助于发现漏斗胸合并其它畸形,可为手术方案的制定提供重要依据.

  3. 新生儿先天性梅毒的诊断与治疗%The Diagnosis and Treatment of the Neonatal Congenital Syphilis

    Institute of Scientific and Technical Information of China (English)

    雷巧玲

    2010-01-01

    @@ 近年来,先天性梅毒(congenital syphilis,CS)发病率在我国呈上升趋势[1].先天性梅毒又称胎传梅毒,是梅毒螺旋体(Treponema pallidum,TP)由母体经胎盘进入胎儿血循环所致的感染性疾病.

  4. Congenital erythropoietic porphyria

    Directory of Open Access Journals (Sweden)

    Wen-Hao Lee

    2012-06-01

    Full Text Available Congenital erythropoietic porphyria (CEP, or “Günther disease”, is a rare variant of porphyria. It is an autosomal recessive disease caused by deficient uroporphyrinogen III synthase (URO-III-synthase, the fourth enzyme in the heme biosynthetic pathway. We herein report a case of a man with the typical clinical presentations of hyper- and hypo-pigmentation and blister formation over sun-exposed areas, mutilation of the fingers, dark-purple urine, and erythrodontia with pinkish fluorescence under a Wood’s lamp. The diagnosis was confirmed by decreased activity of URO-III-synthase in red blood cells (RBC and a porphyrin profile compatible with CEP.

  5. Clinical significance of cardiac axis determination in the diagnosis of fetal congenital heart disease%超声心脏轴测定在筛查胎儿先天性心脏病中的临床意义

    Institute of Scientific and Technical Information of China (English)

    王焕侠

    2014-01-01

    Objective To investigate the clinical significance of cardiac axis determined by echocardiography in the diagnosis of fetal congenital heart disease (CHD).Methods 528 high risk fetuses for CHD were examined by echocardiography.Cardiac axis was measured on four chamber view and fetal cardic anatomical structure was examined in multiple views to determine CHD.Re-sults 29 cases of fetal congenital heart disease and 499 cases of normal fetus were detected by four chamber view in 528 cases of congenital heart disease risk in the fetus pure.However,43 cases of fetal congenital heart disease and 485 cases of normal fetus were detected by combination of four Chamber view and cardiac axis determination in 528 cases of congenital heart disease risk in the fetus pure(P <0.01).Finally,46 cases of fetal congenital heart diseas were diagnosed through perinatal autopsy,newborn ultrasound examination or the results after diagnosis.Sensitivity of CHD diag-nosed by four chamber view alone was 63.04%.However,it was elevated to 93.48% by combina-tion of four Chamber view and cardiac axis determination (P <0.05).Conclusion Cardiac axis plays a key role in fetal echocardiographic screening for CHD.%目的:探讨超声心动图测定在胎儿先天性心脏病产前超声诊断中的临床效果。方法采用 LOGIQ 7超声诊断仪检查528例先心病高危胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果在528例先心病高危胎儿中,单纯四腔观检测有先天性心脏病胎儿29例,正常胎儿499例;而心脏超声四腔观加心脏轴测定共检测有先天性心脏病胎儿43例,正常胎儿485例,差异有统计学意义(P <0.01)。经过引产儿尸体解剖、新生儿超声检查以及随访手术结果确诊后,确诊胎儿先天性心脏病者46例,单纯四腔观检测胎儿先心病的敏感性为63.04%(29/46),应用心

  6. [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.

  7. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

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

  8. 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.

  9. 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.)

  10. [Congenital ranula].

    Science.gov (United States)

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

    2010-01-01

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

  11. Congenital dacryocystocele: prenatal MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Yazici, Zeynep [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Uludag University, Department of Radiology, Faculty of Medicine, Bursa (Turkey); Kline-Fath, Beth M.; Rubio, Eva I.; Calvo-Garcia, Maria A.; Linam, Leann E. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Cincinnati, OH (United States); Yazici, Bulent [Uludag University, Department of Ophthalmology, Faculty of Medicine, Bursa (Turkey)

    2010-12-15

    Congenital dacryocystocele can be diagnosed prenatally by imaging. Prenatal MRI is increasingly utilized for fetal diagnosis. To present the radiological and clinical features of seven fetuses with congenital dacryocystocele diagnosed with prenatal MRI. The institutional database of 1,028 consecutive prenatal MR examinations performed during a period of 4 years was reviewed retrospectively. The cases of congenital dacryocystocele were identified by reading the report of each MRI study. The incidence of dacryocystocele diagnosed with prenatal MRI was 0.7% (n=7/1,028). The dacryocystocele was bilateral in three fetuses. Mean gestational age at the time of diagnosis was 31 weeks. The indication for prenatal MRI was the presence or the suspicion of central nervous system abnormality in six fetuses and diaphragmatic hernia in one. Dacryocystocele was associated with an intranasal cyst in six of ten eyes. Prenatal sonography revealed dacryocystocele in only two of seven fetuses. Of eight eyes with postnatal follow-up, four did not have any lacrimal symptoms. Prenatal MRI can delineate congenital dacryocystocele more clearly and in a more detailed fashion than ultrasonography. Presence of dacryocystocele was symptomatic in only 50% of our patients, supporting that prenatal diagnosis of dacryocystocele might follow a benign course. (orig.)

  12. Recent advances in early-onset severe retinal degeneration: more than just basic research?

    DEFF Research Database (Denmark)

    Preising, M. N.; Heegaard, S.

    2004-01-01

    ophthalmology, Leber's congenital amaurosis, phenotype, gene therapy, retina, degeneration, rewiew......ophthalmology, Leber's congenital amaurosis, phenotype, gene therapy, retina, degeneration, rewiew...

  13. Atresia brônquica congênita: relato de dois casos. Contribuição da tomografia computadorizada ao diagnóstico Congenital bronchial atresia: report of two cases. Contribution of CT scan to diagnosis

    Directory of Open Access Journals (Sweden)

    ALECSANDRA CALIL MOYSES FAURE

    2000-06-01

    Full Text Available Atresia brônquica congênita é uma anomalia rara, caracterizada pela presença de broncocele com hiperinsuflação distal. Relatam-se dois casos dessa anomalia e descrevem-se os achados clínicos e radiológicos que suportam o seu diagnóstico sem a necessidade de uso de métodos invasivos ou cirúrgicos.Bronchial atresia is a rare, congenital anomaly characterized by the presence of bronchocele with distal hyperinflation. The authors report two cases of segmental bronchial atresia and describe the clinical and roentgenographic findings supporting the diagnosis in the absence of other invasive diagnostic modalities or surgical exploration.

  14. 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.)

  15. 漏斗胸合并肺部疾病的诊断和治疗%The diagnosis and treatment of pectus excavatum associated with congenital pulmonary disease in children

    Institute of Scientific and Technical Information of China (English)

    张娜; 曾骐; 陈诚豪; 于洁

    2011-01-01

    Objective To summarize the experience of diagnosis and treatment of pectus excavatum associated with congenital pulmonary disease in children.Methods The data of 91 patients with pectus excavatum associated with congenital pulmonary disease was collected from July 2002 to August 2010 in Beijing Children's Hospital.There were 64 males and 27 females.30 patients with pectus excavatum associated with congenital pulmonary cyst,congenital cystic adenomatoid malformation,pulmonary sequestration,and some severe cases of congenital lobar emphysema received the Nuss surgery and lobectomy simultaneously.Results 30 cases with pectus excavatum asseeiated with congenital pulmonary disease received simultaneous Nuss procedure and lobectomy.All cases were confirmed by pathology and recovered uneventfully.Conclusion Chest CT scan is an effective way to evaluate pectus excavatum associated with pulmonary diseases.Whether surgery is needed for the pulmonary disease depend on the specific types of disease,age and other various factors.Simultaneous surgery for pectus excavatum and pulmonary disease can lower the risk of the multiple operations,and reduce the financial burden of famihes.%目的 回顾先天性漏斗胸合并肺部疾病的病例,探讨诊断方法及治疗原则.方法 2002年7月至2011年8月回顾性分析91例合并肺部疾病漏斗胸患儿的临床资料.其中男64例,女27例.术前常规行胸部X线平片和CT检查,其中影像学证实的漏斗胸同时合并先天性肺囊肿、先天性肺囊性腺瘤样畸形、肺隔离症、肺大疱及部分较严重的肺气肿患儿30例,均同期行漏斗胸Nuss手术和开胸肺叶切除手术.结果 30例病例均顺利完成同期漏斗胸Nuss手术及肺叶切除手术,且最终均通过病理诊断证实.术后随访效果良好.结论 胸部CT扫描检查是诊断先天性漏斗胸合并肺部疾病的有效方法.微创Nuss手术给同期行肺叶切除手术带来了可能.同期手术减少了患儿多

  16. Accuracy and reproducibility of transvaginal three-dimensional ultrasonography in diagnosis of congenital uterine anomalies%经阴道三维超声诊断子宫发育异常的准确性及可重复性

    Institute of Scientific and Technical Information of China (English)

    王睿丽; 朱兆领; 张喜君; 袁建军

    2013-01-01

    目的 评价经阴道三维超声(TV3DUS)诊断子宫发育异常的价值及测量宫腔的可重复性.方法 随机选择接受TV3DUS检查的30例子宫正常及49例子宫发育异常的患者进行分析,测量其中39例发育异常子宫的宫腔底部宽度、宫底内膜面向宫腔凸起高度或纵隔长度、宫腔长度.由2名医师在双盲情况下分别独立完成图像的分析、测量和诊断,对诊断结果和测量数据进行一致性检验.结果 2名医师诊断子宫发育异常具有高度一致性(Kappa=0.932,P<0.01).对39例发育异常子宫宫腔径线的测量结果显示,观察者内及观察者间均有高度一致性,组内相关系数均高于0.8.结论 TV3DUS可准确诊断子宫发育异常,其测量宫腔径线的可重复性良好.%Objective To observe the diagnostic value of transvaginal three-dimensional ultrasound (TV3DUS) for congenital uterine anomalies, as well as its reproducibility in the measurement of uterine cavity dimensions. Methods Thirty normal uterine and 49 abnormal uterine were examined with TV3DUS. The assessment of uterine morphology was performed in the standardized coronal plane. For 39 congenital uterine anomalies, the width of the uterine cavity (W) , septum length (SL) and the length of the uterine cavity (CL) were measured. The measurements were done by two independent operators with double blind method. The intraobserver and interobserver variabilities were evaluated. Results The agreement of diagnosis in two operators was good (.Kappa - 0. 932, P0. 8, P< 0.001). Conclusion TV3DUS is a reproducible sensitive method for diagnosis of congenital uterine anomalies and measurement of uterine cavity dimensions.

  17. 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.

  18. [Orthopedic aspects of congenital insensitivity to pain].

    Science.gov (United States)

    Bronfen, C; Bensahel, H; Teule, J G

    1985-01-01

    The congenital insensitivity to pain regroups some rare diseases which are mainly 5: congenital insensitivity to pain; congenital sensitive neuropathies; distal sensitive neuropathies; Riley-Day syndrome or hereditary dysautonomia; at last, miscellaneous troubles. Three different cases are reported in children: true congenital insensitivity to pain; hereditary dysautonomia or Riley-Day syndrome; congenital insensitivity to pain localised to a lower limb joined to amniotic disease and abnormality of this limb. The orthopedic symptoms (osteomyelitis, arthropathies as Charcot type, dislocations, fractures) lead often to diagnosis and they are an important step of the prognosis. Scoliosis seems to be frequent in this disease. The orthopedic and surgical treatment, according to each localization, is difficult and must emphasize the prevention of bones and joints injuries.

  19. Congenital Chagas disease: an update.

    Science.gov (United States)

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

    2015-05-01

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

  20. 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.

  1. Imaging diagnosis of congenital absence of the internal carotid artery%先天性颈内动脉缺如患者的影像学诊断

    Institute of Scientific and Technical Information of China (English)

    张鹏; 郑雪平; 付伟伟; 刘学军; 冯卫华; 陈海松; 徐文坚

    2016-01-01

    Objective To discuss the clinical and radiological features of congenital absence of the internal carotid artery.Methods Four patients of the congenital absence of the internal carotid artery were reported and the clinical and radiological features were summarized by a review of the literature.Results Four patients were shown subarachnoid hemorrhage ( SAH) , transient ischemic attack ( TIA) , epilepsy and headache, respectively.All of the four patients presented the absence of unilateral or bilateral carotid arteries in cervical computed tomography angiography ( CTA) or magnetic resonance angiography ( MRA).Carotid canal was absent in all the patients in CT base of skull and multiple intracranial vascular dysplasia was shown in all the patients.Basilar or posterior communicating artery was presented as dolichoectasia in 3 patients.There were 2 patients who suffered aneurysm.Conclusions The onset of the congenital absence of the internal carotid artery can be presented in any age.Sudden severe headache as initial symptom caused by SAH is showed more common in children and adolescents.TIA is commonly seen in the elderly.CT shows carotid canals are absent in the base of skull.Unilateral or bilateral carotid arteries are shown absent in CTA or MRA.Multiple intracranial vascular dysplasia is shown in CTA or MRA.Carotid artery CTA has been considered as the optimal imaging method of showing the congenital absence of the internal carotid artery.%目的:探讨先天性颈内动脉缺如的就诊原因与影像学特点。方法报道4例先天性颈内动脉缺如患者并对以往相关文献总结分析。结果4例患者发病年龄35~53岁,中位发病年龄43.5岁。其中男性1例,女性3例,就诊原因分别为蛛网膜下腔出血( SAH)1例,短暂性脑缺血发作(TIA)1例,痫性发作1例,头晕并头痛1例。4例患者颈动脉血管造影均示单侧或双侧颈动脉未显影,颈内动脉管缺如并颅内血管发育异常,其

  2. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  3. Congenital diseases of the gastrointestinal tract.

    Science.gov (United States)

    Lentze, M

    2014-05-01

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

  4. Congenital Scaphoid Megalourethra: A Case Report

    Directory of Open Access Journals (Sweden)

    Kenji Obara

    2017-09-01

    Full Text Available A congenital megalourethra is an enlargement of the pendulous urethra without evidence of distal obstruction. A 1-month-old boy presented to us with complaint of weak stream, ballooning of the penis before and during voiding and post voiding dribbling, since birth. Physical examination and cystourethroscope confirmed the diagnosis of congenital scaphoid megalourethra. He underwent reduction urethroplasty. During postoperative follow up, he had normal looking penis with good urinary stream.

  5. 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.

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

    Science.gov (United States)

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

    1988-02-01

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

  7. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    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...... 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...

  8. 产前超声诊断胎儿肺部异常及预后评估%Prenatal Diagnosis of Fetal Congenital Disease of Lung and Clinical Prognosis by Ultrasound

    Institute of Scientific and Technical Information of China (English)

    陆冰; 姜小力; 殷林亮; 邓学东

    2015-01-01

    Objective To describe the antenatalfi ndings and outcome of fetuses with congenital lung disease. MethodsA total of 147 cases of fetal congenital disease of lung were diagnosed and the data was retrospectively analyzed.Results 1. Among the 147 fetuses of congenital lung disease, there were 89 lung lesion; 59 cases of pleural effusion (PE), 4 case of echogenic lung; 1 case of pulmonary hypopasia with ribs malformation and 1 case of pulmonary agenesis (PA); 2. 49 patients with other pulmonary abnormalities, including: fetal edema, lymph hydroma, congenital heart malformation, skeletal deformities, hepatic cyst, heart shift, Bilateral hydronephrosis, single umbilical artery and amnioticfl uid; 3. Fetal outcome: a total of 97 cases of fetus performed induced abortion, 10 cases of disease spontaneous regression before labor, 40 cases of lesions persist and choose to continue pregnancy.ConclusionPrenatal ultrasonography has a high accuracy rate for the diagnosis and classification of fetal congenital lung disease. For different types of pulmonary lesions need to be carefully identifi ed. With detailed observation of the fetus and prenatal follow-up, ultrasonography is helpful to predict the clinical outcome of the fetus.%目的:探讨胎儿肺部异常的产前超声特征及评估临床预后价值。方法对147例产前超声诊断有胎儿肺部异常的胎儿声像图进行回顾性分析。结果①147例肺部异常的胎儿中产前检出89例团块样病变;检出胸腔积液共59例,检出4例肺回声弥漫性增强;1例肺发育不良伴有肋骨畸形;1例肺缺如。②49例伴发其他肺部异常,包括:胎儿水肿、淋巴水囊瘤、心脏畸形、骨骼畸形、肝囊肿、心脏移位、双肾积水、单脐动脉、羊水过多;③胎儿临床结局:147例共有97例胎儿选择引产,10例病变产前自行消退,40例病灶持续存在并选择继续妊娠。结论对于肺部病灶的不同类型诊断需要谨慎鉴别,

  9. 荧光原位杂交技术在先天性心脏病产前诊断中的应用%Application of FISH in the prenatal diagnosis of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    赵婧; 黄湘; 李红艳; 梁少霞

    2015-01-01

    目的:探讨采用荧光原位杂交技术(FISH)检查法对先天性心脏病胎儿进行染色体22q11微缺失产前诊断的临床应用。方法应用常规染色体核型分析及 FISH 检查法,对2012年3月至2014年10月中山市博爱医院收治的52例疑似妊娠22q11微缺失胎儿的孕妇进行产前22q11微缺失检查并跟踪随访。结果所有胎儿染色体核型分析均无异常,FISH 检查结果显示3例呈阳性。结论染色体核型分析无法检测22q11微缺失综合征,因此对有22q11微缺失先天性心脏病风险的胎儿产前诊断应用 FISH 检查法,可提高检测的准确性。%Objective To investigate the detection of 22q11 micro‐deletion by FISH in the prenatal diagnosis of congenital heart disease .Methods 52 pregnant women admitted to Boai Hospital of Zhongshan City during March 2012 to October 2014 who were suspected pregnancy 22q11 micro‐deletion fetuses were received conventional chro‐mosome karyotyping and FISH test for prenatal diagnosis about 22q11 micro‐deletion ,then were followed up . Results None of the karyotype analysis results showed abnormal ,while there were 3 positive cases tested by FISH . Conclusion Karyotype analysis cannot detect 22q11 micro‐deletion syndrome ,hence FISH should be used in the pre‐natal diagnosis for fetuses with the risk of congenital heart disease caused by 22q11 micro‐deletion ,which can improve the accuracy of detection .

  10. 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

  11. Novel mutations in two Saudi patients with congenital retinal dystrophy

    Directory of Open Access Journals (Sweden)

    Leen Abu Safieh

    2016-01-01

    Full Text Available To report novel mutations in two Saudi children with clinical features of Leber congenital amaurosis (LCA and Alström syndrome. Case reports. Case 1 was a child with phenotypic features of LCA including oculodigital sign, bilateral enophthalmos, nystagmus, pale disc, and retinal changes. Direct sequencing of the coding sequence of GUCY2D revealed a missense mutation affecting highly conserved position (c. 743C > T; p.S248 L. Case 2 describes a girl with marked nystagmus, photophobia, and retinal changes in both eyes with short and stubby fingers tapering at the distal phalanges. The electroretinograms were nonrecordable in each eye. She had a hearing aid in the left ear, mid-facial hypoplasia, bilateral enophthalmos, and insulin dependent diabetes. Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814*. Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies

  12. Congenital hypopituitarism and renal failure

    Directory of Open Access Journals (Sweden)

    Gaurav Atreja

    2011-01-01

    Full Text Available Congenital hypopituitarism is potentially fatal in the newborn period but treatable if the diagnosis is made early. We report a neonate who presented with hypothermia and severe hypoglycemia. He also had undescended testis and micropenis. Initial screening revealed panhypopituitarism, which was corrected promptly. He developed renal failure due to initial cardiovascular compromise related to hypotension but recovered quickly with standard management. Magnetic resonance imaging revealed absent stalk of anterior pituitary.

  13. CONGENITAL PSEUDARTHROSIS OF THE CLAVICLE

    OpenAIRE

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

    2015-01-01

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

  14. 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

  15. 先天性三尖瓣口无功能的超声心动图诊断%Diagnosis of congenitally unguarded tricuspid valve orifice by echocardiography

    Institute of Scientific and Technical Information of China (English)

    吴力军; 张玉奇; 陈亚青; 陈丽君; 张志芳

    2016-01-01

    目的 分析先天性三尖瓣口无功能(congenitally unguarded tricuspid valve orifice,CUTVO)的超声心动图特征,评价超声心动图对CUTVO的诊断价值.方法 回顾性分析9例经心外科手术或尸解诊断为CUTVO患儿的超声心动图资料.结果 CUTVO声像图特征主要表现为三尖瓣叶完全或部分缺如,三尖瓣腱索及乳头肌缺如或发育不良,三尖瓣环及房室连接关系正常;三尖瓣口严重反流,右心房、右心室明显增大.本组单纯性CUTVO2例,合并其他心血管系统畸形7例,其中肺动脉闭锁伴室间隔完整5例,房间隔缺损及动脉导管未闭1例,肌部室间隔缺损1例.9例患儿中,超声诊断符合7例,误诊2例(22.2%),其中1例误诊为三尖瓣下移畸形,1例误诊为Uhl's病.结论 超声心动图技术可以准确诊断CUTVO,但需与三尖瓣下移畸形及Uhl's病鉴别.%Objective To review the imaging characteristics and evaluate the diagnostic value of echocardiography for congenitally unguarded tricuspid valve orifice (CUTVO).Methods Doppler echocardiography was performed and these images were compared with operative and necropsy findings in 9 children with CUTVO.Results CUTVO was characterized by the absence of the tricuspid valvar leaflets with normal atrioventricular junction and tricuspid annulus,severe tricuspid regurgitation,and dilated right atrium and right ventricles.The associated malformations included pulmonary atresia with intact ventricular septum (5 cases),patent ductus arteriosus and atrial septal defect (1 case),and muscular ventricular septal defect (1 case).Seven of 9 cases were diagnosed correctly,and other 2 cases were miss-diagnosed,in which 1 case misdiagnosed as Ebstein anomaly,and 1 case misdiagnosed as Uhl's disease.Conclusions Congenitally unguarded tricuspid valve orifice can be diagnosed accurately by Doppler echocardiography.This malformation should be distinguished from Ebstein anomaly and Uhl's disease.

  16. 超声助显剂在诊断新生儿先天性幽门肥厚中的应用价值%Application Value of Ultrasound Assistant in the Diagnosis of Congenital Hypertrophy in Newborns

    Institute of Scientific and Technical Information of China (English)

    刘皎然; 韩志勤; 田庆波; 魏杰; 彭龙; 张徽; 刘宏; 张荣心; 刘芳

    2016-01-01

    Objective To explore the application value of ultrasound assistant in the diagnosis of congenital hyper-trophic pyloric ( CHP) . Methods Application of ultrasound was performed in 45 cases of clinically suspected CHP of newbo-rns in the first direct examination of the stomach, and then ultrasound assistant were taken for recheck. The length, diameter, and thickness of the muscle layer were measured. Results 25 patients (55. 56%) were, after taking ultrasonic contrast a-gent, diagnosed with CHP and confirmed by operation, among whom, 22 patients were diagnosed with CHP by fasting direct ultrasound examination, and ultrasonography with the help of ultrasound assistant supported the diagnosis;3 cases of direct ex-amination of fasting did not confirm the diagnosis of CHP, and ultrasound assistant in ultrasonography supported the diagnosis of CHP. Ultrasound and other imaging examinations helped in diagnosis of 5 other neonatal congenital diseases and some func-tional diseases. Conclusion Ultrasonography with the help of ultrasound assistant in the diagnosis of CHP of newborns is bet-ter than the fasting ultrasound with good safety.%目的:探讨超声助显剂在诊断新生儿先天性幽门肥厚中的应用价值。方法对临床疑诊先天性幽门肥厚的45例先行空腹彩色多普勒超声(彩超)检查,服用超声助显剂后再行彩超检查,2次均测量幽门长度、直径及幽门肌层厚度。结果本组25例(55.56%)经服用超声助显剂后明确诊断并经手术证实为先天性幽门肥厚,其中22例经空腹直接超声检查诊断为先天性幽门肥厚,服用超声助显剂后再次超声检查支持诊断;3例空腹检查时未明确诊断先天性幽门肥厚,而服用超声助显剂后再次超声检查即明确诊断。另外,本组经超声及其他影像学检查诊断出其他6种新生儿先天性疾病及部分功能性疾病。结论应用超声助显剂行超声检查诊断新生儿先天性幽门肥厚优于空腹超声检查,且安全性好。

  17. 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.

  18. [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.

  19. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    Science.gov (United States)

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

  20. Early diagnosis and prevention and treatment of congenital syphilis%先天性梅毒的早期诊断及防治

    Institute of Scientific and Technical Information of China (English)

    陈超

    2004-01-01

    近年我国大部分地区均有梅毒发生,且发生率呈上升趋势随着育龄妇女梅毒发生率的增加,先天性梅毒(congenital syphms)发生率亦明显增加。先天性梅毒又称胎传梅毒,是梅毒螺旋体(treponema pallidum)经胎盘直接侵入胎儿所致。患梅毒的孕妇在孕期可经胎盘将本病传播给胎儿,但一般认为16孕周前螺旋体被胎盘绒毛膜的郎罕层阻断,较难进入胎儿体内,16孕周后郎罕层逐渐萎缩,胎儿易被感染。

  1. SEUDOARTROSIS CONGÉNITA DE CLAVÍCULA PATOLOGÍA DE ALTA CONFUSIÓN DIAGNÓSTICA CONGENITAL PSEUDARTHROSIS OF CLAVICLE, DIFFERENTIAL DIAGNOSIS PATHOLOGY

    Directory of Open Access Journals (Sweden)

    Enrique Vergara Amador

    2006-07-01

    Full Text Available La seudoartrosis congénita de clavícula es una entidad rara, casi siempre aparece sin asociación a otras patologías y generalmente no ocasiona limitaciones importantes en los niños. Puede confundirse con otras entidades como la fractura de clavícula de origen traumático. La mayoría de los pacientes consultan por defecto estético y pocas veces por dolor. Generalmente el tratamiento es quirúrgico; pero existe controversia sobre la necesidad de realizar cirugía. Presentamos dos casos clínicos con seudoar según los últimos parámetros o leyes y trosis de la clavícula derecha que recibieron tratamiento quirúrgico con resultados satisfactorios.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 seudoartrosis of the right clavicle that they received surgical treatment with satisfac­tory results.

  2. Prenatal diagnosis of mosaic trisomy 16 associated with congenital diaphragmatic hernia and elevated maternal serum alpha-fetoprotein and human chorionic gonadotrophin.

    Science.gov (United States)

    Chen, Chih-Ping; Shih, Jin-Chung; Chern, Schu-Rern; Lee, Chen-Chi; Wang, Wayseen

    2004-01-01

    To present the clinical, cytogenetic, and molecular findings of prenatally diagnosed mosaic trisomy 16. A 30-year-old gravida 2, para 1 woman was referred for amniocentesis because of a positive maternal serum screen result with elevated maternal serum alpha-fetoprotein (MSAFP) and maternal serum free beta-human chorionic gonadotrophin (MSfreebeta-hCG). Cytogenetic analysis of amniotic fluid at 21 weeks' gestation revealed mosaicism for trisomy 16, 47,XX,+16[3]/46,XX[15]. Ultrasonography demonstrated right diaphragmatic hernia and agenesis of left umbilical artery. The pregnancy was terminated subsequently. The karyotype of the cord blood was 46,XX. Cytogenetic analyses of the multiple sampled tissue specimens showed a karyotype of 47,XX,+16 in the placenta and 47,XX,+16/46,XX with various levels of trisomy 16 in the umbilical cord and skin. Molecular studies showed that the trisomy 16 in the placenta was likely to have resulted from a maternal meiosis II nondisjunction error. Partial dosage increase of an extra maternal allele was noted in the skin and umbilical cord. Fetuses with mosaic trisomy 16 may be associated with congenital diaphragmatic hernia and elevated MSAFP and MShCG. Fetal blood sampling is of a limited value in confirming mosaic trisomy 16 ascertained through amniocentesis. Copyright 2004 John Wiley & Sons, Ltd.

  3. 胎儿先天性心脏病的超声诊断及漏诊探析%Diagnosis of Ultrasound and Analysis of Misdiagnosis in Fetal Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    卢祥章

    2015-01-01

    Objective:To analyze the effect of ultrasound diagnosis and misdiagnosis in fetal congenital heart disease.Method:2000 pregnant women admitted in our hospital maternity clinic were selected,gestational ages were about 20-40 weeks, the implementation of color Doppler ultrasound examination of fetal heart five transverse section and the analysis of the fetal heart structure form,the examination results were compared respectively with autopsy results and the results ofechocardiography.Result:The detection rate of fetal congenital heart disease diagnosed by color Doppler ultrasound examination was 1.3%,there were 10 cases were heart malformation fetus,24 cases were stopped pregnancy with induced labor,2 cases were normal childbirth,2 cases of pulmonary artery stenosis with right ventricular dysplasia were not checked out in autopsy results,and other ultrasound results were agreed with the autopsy,4 cases were diagnosed congenital heart disease with the echocardiography.Conclusion:Ultrasound diagnosis is a kind of effective method of diagnosing heart disease,the diagnosis accuracyare affected by fetal position,type of heart disease,type of image quality, resolution,and heart disease.%目的:探析胎儿先天性心脏病的超声诊断及漏诊情况。方法:随机选取笔者所在医院产科门诊收治的孕妇2000例,孕周20~40周,实施彩色多普勒超声检查胎儿心脏五横切面检查及胎儿心脏结构形态分析,检查结果分别与尸检结果、超声心动图检查结果进行对比。结果:2000例经胎儿心脏彩色多普勒超声检查胎儿,先天性心脏病的检出率为1.3%,并发心外畸形胎儿10例,24例引产终止妊娠,正常分娩2例,尸检结果中仅2例表现为肺动脉狭窄合并有右室发育不良而未检出,其他超声结果与尸检结果一致,经超声心动图检查结果确诊为先天性心脏病4例。结论:超声诊断为一种有效的诊断心脏病的方法,其诊断准

  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. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)

    2007-01-15

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  6. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

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

  7. Congenital dislocation of the patella - clinical case

    Directory of Open Access Journals (Sweden)

    Pedro Miguel Sá

    2016-02-01

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

  8. Congenital Heart Disease in Adults

    Science.gov (United States)

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

  9. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    Science.gov (United States)

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

  10. A congenital mucocele of the anterior dorsal tongue

    NARCIS (Netherlands)

    Wong Chung, J.E.; Ensink, R.J.H.; Thijs, H.F.; Hoogen, F.J.A. van den

    2014-01-01

    We report on a new-born with a congenital mucocele on the anterior dorsal side of the tongue. The presentation as well as the differential diagnosis of congenital oral swellings is discussed. Because of breastfeeding problems the mucinous swelling was incised and drained two days after birth. Immedi

  11. Congenital self-healing reticulohistiocytosis - an important diagnostic challenge

    DEFF Research Database (Denmark)

    Jensen, Marie Louise Slott; Bygum, Anette; Clemmensen, Ole

    2011-01-01

    , multidisciplinary assessment and follow up are essential. Conclusion:  Our data document how easily the diagnosis congenital self-healing reticulocytosis may be missed and emphasize the importance and value of instant clinical photographing at the neonatal unit and the use of teledermatology whenever congenital...

  12. Neurotized congenital melanocytic nevus resembling a pigmented neurofibroma

    Directory of Open Access Journals (Sweden)

    Nidhi Singh

    2015-01-01

    Full Text Available Neurotized congenital melanocytic nevus and pigmented neurofibroma (PNF are close mimics and pose a clinicopathological challenge. We present a case of pigmented hypertrichotic plaque over lumbosacral region and discuss the differential diagnosis and its clinical, histopathological and immunohistochemistry features which may aid in differentiation. We highlight the difficulties faced in differentiating neurotized congenital melanocytic nevus from pigmented neurofibroma.

  13. A case of congenital syphilis with Hutchinson′s triad

    Directory of Open Access Journals (Sweden)

    Priyanka Singhal

    2011-01-01

    Full Text Available Late congenital syphilis is a rare entity and its early diagnosis and treatment is essential to prevent significant morbidity. We are reporting a case of late congenital syphilis presenting with Hutchinson′s triad at an age of 14 years.

  14. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

    Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

  15. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

    Directory of Open Access Journals (Sweden)

    Marta Corton

    Full Text Available Retinal dystrophies (RD are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian trait. Pathogenic mutations can occur in any of the 100 or more disease genes identified so far, making molecular diagnosis a rather laborious process. In this work we explored the use of whole exome sequencing (WES as a tool for identification of RD mutations, with the aim of assessing its applicability in a diagnostic context.We ascertained 12 Spanish families with seemingly recessive RD. All of the index patients underwent mutational pre-screening by chip-based sequence hybridization and resulted to be negative for known RD mutations. With the exception of one pedigree, to simulate a standard diagnostic scenario we processed by WES only the DNA from the index patient of each family, followed by in silico data analysis. We successfully identified causative mutations in patients from 10 different families, which were later verified by Sanger sequencing and co-segregation analyses. Specifically, we detected pathogenic DNA variants (∼50% novel mutations in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases.Despite the absence of genetic information from other family members that could help excluding nonpathogenic DNA variants, we could detect causative mutations in a variety of genes known to represent a wide spectrum of clinical phenotypes in 83% of the patients analyzed. Considering the constant drop in costs for human exome sequencing and the relative simplicity of the analyses made, this technique could represent a valuable tool for molecular diagnostics or genetic research, even in cases for which no genotypes from family members are available.

  16. Congenital platelet function defects

    Science.gov (United States)

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  17. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  18. Why prevent, diagnose and treat congenital toxoplasmosis?

    Directory of Open Access Journals (Sweden)

    Rima McLeod

    2009-03-01

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

  19. Estimation of children's radiation dose from cardiac catheterisations, performed for the diagnosis or the treatment of a congenital heart disease using TLD dosimetry and Monte Carlo simulation

    Energy Technology Data Exchange (ETDEWEB)

    Yakoumakis, E N; Gialousis, G I; Papadopoulou, Despina; Makri, Triantafillia; Pappouli, Zografia; Yakoumakis, Nikolaos; Papagiannis, Panayotis; Georgiou, Evangelos [Medical Physics Department, University of Athens, 75 Mikras Asias Street, Athens 11527 (Greece)], E-mail: gialousis@med.uoa.gr

    2009-06-15

    Entrance surface radiation doses were measured with thermoluminescent dosimeters for 98 children who were referred to a cardiology department for the diagnosis or the treatment of a congenital heart disease. Additionally, all the radiographic parameters were recorded and Monte Carlo simulations were performed for the estimation of entrance surface dose to effective dose conversion factors, in order to further calculate the effective dose for each child. For diagnostic catheterisations the values ranged from 0.16 to 14.44 mSv, with average 3.71 mSv, and for therapeutic catheterisations the values ranged from 0.38 to 25.01 mSv, with average value 5 mSv. Effective doses were estimated for diagnostic procedures and interventional procedures performed for the treatment of five different heart diseases: (a) atrial septal defect (ASD), (b) ventricular septal defect (VSD), (c) patent ductus arteriosus (PDA), (d) aorta coarctation and (e) pulmonary stenosis. The high levels of radiation exposure are, however, balanced with the advantages of cardiac catheterisations such as the avoidance of surgical closure and the necessity of shorter or even no hospitalisation.

  20. 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.

  1. 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.

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

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    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.

  3. Rastreamento e diagnóstico ecocardiográfico das arritmias e cardiopatias congênitas fetais Screening and echocardiographic diagnosis of arrhythmias and congenital heart diseases in the fetus

    Directory of Open Access Journals (Sweden)

    Sandra Regina Marques Carvalho

    2006-05-01

    program of arrhythmias and congenital heart disease in a reference hospital and the relevance of early diagnosis in the fetal and neonate evolution. METHODS: cardiac evaluation of 1159 fetuses was done in two different levels. Level I: by morphological ultrasound examination with the objective to detect the existence of either arrhythmias or structural cardiac malformations. Level II: by fetal echocardiography to establish the differential diagnosis. The results of level I in the arrhythmia group were compared with those of level II, and in the group with malformations the results of both levels were confronted with the neonate echocardiogram or necropsy. The kappa index was calculated to evaluate the concordance between the two levels. RESULTS: all detected arrhythmias in level I were confirmed in level II, there were no false negative cases and five patients with severe arrhythmia required pharmacological therapy. The diagnosis of structural malformation by level I had sensitivity of 72% and specificity of 98% and there were 28% of false-positive cases. In level II, the sensitivity and specificity of the diagnosis of congenital heart disease were 100 and 99%, respectively. The kappa index was 57% and indicated a moderate degree of concordance between the two levels. Fifty-one percent of the fetuses with diagnosis of cardiac malformations required pharmacological or invasive intervention immediately after birth. CONCLUSION: morphological ultrasound examination is a important tool in the screening of arrhythmias and congenital heart defects during fetal life. The sensitivity and specificity of the fetal echocardiogram were very high and the early diagnosis made it possible to treat the fetus with severe cardiac disease either during pregnancy or immediately after birth.

  4. Ultrasonographic diagnosis and clinical prognosis of fetal congenital diseases of the lung%胎儿肺部病变产前超声表现与临床预后

    Institute of Scientific and Technical Information of China (English)

    姜小力; 邓学东; 凌晨; 唐亚奇; 梁泓

    2012-01-01

    examination is a reliable method for the diagnosis of fetal congenital lung disease , and enable the prediction of clinical prognosis of the affected fetuses. If the fetus had heart and mediustinum displacement , hydrops or chromosomal abnormalities , termination should be considered.%目的 探讨胎儿肺部病变超声声像图特征及临床预后与转归.方法 对49例肺部病变胎儿的产前超声声像图特征及临床随访资料进行回顾性分析.结果 49例肺部病变胎儿产前超声表现及临床结局:(1)先天性肺囊腺瘤畸形21例(42.9%,21/49),超声表现为混合性回声内见多个大小不等的无回声区或增强回声团块.其中15例引产后病理证实为先天性肺囊腺瘤畸形,1例出生后新生儿死亡,5例于孕37周前肺部肿块消失.(2)隔离肺12例(24.5%,12/49),超声主要表现为胎儿胸腔内均质增强回声的楔形包块.其中3例引产后病理证实为隔离肺;3例于孕36周前肺部肿块消失;6例活产后经MRI或手术病理证实病灶仍存在.(3)先天性膈疝9例(18.4%,9/49),超声表现为胸腔内见腹腔脏器.其中7例引产(1例合并18-三体),1例出生后新生儿死亡,1例活产,产后手术存活.(4)胸腔积液5例(10.2%,5/49),超声表现为胸腔内无回声区,其中4例引产(分别合并有21-三体、胎儿水肿、Turner综合征、大量腹腔积液),1例于孕34周时胸腔积液消失.(5)肺缺如2例(4.1%,2/49),超声表现为肺叶缺失,其中左、右肺叶缺如各1例,均选择引产.结论 超声检查是检出胎儿肺部病变的可靠方法,可从超声观察角度预测肺内病变胎儿的临床预后与转归;胎儿纵隔和心脏移位、胎儿水肿或合并染色体异常是终止妊娠的指征.

  5. Congenital multifocal osteomyelitis at 24 weeks' gestation

    Energy Technology Data Exchange (ETDEWEB)

    Raupp, Peter; Shubbar, Adil; Baichoo, Vijaymani; Samson, Gregory [Al Corniche Hospital, Department of Neonatology, P.O. Box 3788, Abu Dhabi (United Arab Emirates)

    2007-12-15

    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. Congenital myotonia in related kittens.

    Science.gov (United States)

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

    1998-06-01

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

  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 syphilis: The continuing scourge.

    Science.gov (United States)

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

    2014-01-01

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

  9. 儿童梨状窝瘘的临床及影像学分析%The causes and imaging diagnosis of congenital pyriform sinus fistula in children

    Institute of Scientific and Technical Information of China (English)

    尹传高; 史自锋; 齐炜炜

    2015-01-01

    Objective To probe the cause,clinical and imaging findings of children's congenital pyriform sinus fistula (CPSF). Methods Clinical and radiographic data in 23 patients with children’s CPSF were analyzed retrospectively which were confirmed by pathology.Results 1 6 patients represented repeated swelling and pain in left anterior neck,6 of whom were misdiagnosed as thyroid abscess and suffered surgery.7 patients represented masses in left anterior neck.Ultrasound showed all patients with diffuse en-larged thyroid gland with uneven mass and separated liquid dark space or infection in deep neck soft tissue,and no CPSF was identi-fied.The subsequent esophageal barium meal confirmed the fistula in 8 patients,and other patients underwent further CT scan with image post-processing.CT showed clear fistula in 4,suspicious fistula in 7 and no fistula in 4,All fistulas were confirmed by the pa-thology.Conclusion The combination of ultrasound,esophagogram and CT with image post-processing can improve the diagnostic sensitivity and accuracy of CPSF.%目的:分析儿童先天性梨状窝瘘(CPSF)的成因、临床及影像学表现,提高对其的认识。方法回顾性分析23例经术后病理证实 CPSF 患儿的临床和影像学资料。结果23例患儿中16例以左颈前反复肿痛就诊,其中6例曾误诊为甲状腺脓肿并手术;7例以颈前肿块入院。全部患儿超声显示患侧甲状腺弥漫性肿大伴不均匀占位,部分合并分隔性液性暗区,或颈深部软组织感染,无确诊梨状窝瘘者;食管钡餐造影直接确诊瘘管8例;未明确看到瘘管者行 CT 扫描及图像后处理,明确诊断4例,可能性7例,未考虑者4例,后全部经病理证实。结论超声、食管吞钡造影和 CT 扫描的综合运用可提高儿童梨状窝瘘诊断的敏感性和正确率。

  10. Diagnosis of Gestational, Congenital, and Placental Malaria in Colombia: Comparison of the Efficacy of Microscopy, Nested Polymerase Chain Reaction, and Histopathology

    Science.gov (United States)

    Campos, Ivón M.; Uribe, Mary L.; Cuesta, Carolina; Franco-Gallego, Alexander; Carmona-Fonseca, Jaime; Maestre, Amanda

    2011-01-01

    The technical capability of different methods to diagnose Plasmodium in maternal peripheral blood, placenta, and umbilical cord blood has not been assessed in Colombia and seldom explored in other malaria-endemic regions. We designed a study to compare the technical and the operational-economical performances of light microscopy (LM), nested polymerase chain reaction (nPCR), and histopathology (HP). In maternal blood, LM had 41% sensitivity and 100% specificity and in placental blood, 35% and 100%, respectively, compared with nPCR. In placental tissue, LM had 33% sensitivity and 95% specificity; and nPCR 47% and 77%, respectively; compared with HP. Light microscopy had the best operational-economical qualification. We concluded that nPCR and HP performed better compared with LM, but field implementation of these two techniques remains a problem. Therefore, LM is recommended as the gold standard for diagnosis of gestational malaria and placental blood infection in the field. PMID:21633030

  11. 颞骨先天性胆脂瘤并发周围性面瘫的诊治%Diagnosis and Treatment of Congenital Cholesteatoma in Temporal Bone with Facial Paralysis

    Institute of Scientific and Technical Information of China (English)

    马慧敏; 陈智斌; 周涵; 赵晓埝; 李芳丽; 邢光前

    2014-01-01

    Objective To study the diagnosis and the treatment of temporal bone congenital cholesteatoma with facial paralysis. Methods The clinical data of 7 patients treated in our department between April 2001 and April 2014 were re-viewed. Results All the 7 patients recovered well without postoperative complications. There is no sign of recurrence of cho-lesteatoma during the 2 months to 14 years follow-up. Facial nerve function was completely recovered in 3 patients, partially improved in 2 patients, and showed no obvious improvement in 2 patients. As for hearing function, 5 patients ended up with total deafness in the affected ear, of whom 3 were diagnosed with dead labyrinth before surgery and 2 received partial labyrin-thectomy due to inner ear invasion of cholesteatoma. In the other 2 patients, hearing improved by 15 dB in 1 patient and re-mained unchangeable in the other postoperatively. Conclusions Early detection is the key to lower incidence of facial paraly-sis in temporal bone congenital cholesteatoma and to obtain satisfactory postoperative outcomes.%目的:探讨合并面瘫的颞骨先天性胆脂瘤的诊断及治疗。方法对2001年4月至2014年4月间在我科手术治疗的7例患者的临床资料进行回顾分析。结果所有病例术后恢复良好,无并发症,随访2月-14年胆脂瘤无复发。面瘫完全恢复者3例,好转者2例,无改善2例。术后患耳全聋者5例,3例为就诊时已确诊全聋,另2例为因胆脂瘤侵入内耳而行迷路部分切除术;1例听力提高15dB;1例无变化。结论早期诊断是降低先天性胆脂瘤面瘫发生率及获得良好术后效果的重要保障。

  12. 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.

  13. 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.

  14. [Congenital cataract: general review].

    Science.gov (United States)

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

    2006-04-01

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

  15. 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.

  16. 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...

  17. 数字化X线摄影在先天性心脏病诊断中的应用价值%Value of Digital X-Ray Photography in Diagnosis of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    侯建新; 李光民

    2011-01-01

    Objective To explore the value of digital X - ray photography in diagnosing congenital heart disease. Methods Clinical and imaging data of 97 cases of suhsequently confirmed congenital heart disease with positive digital X -ray manifestations from our hospital from January 1st to October 31st 2009 were collected and analyzed retrospectively. Results Of the 97 cases, 46 ( 47.4% ) were atrioseptal defection, 17 ( 17.5% ) were cases of patent ductus arteriosus, 13 ( 13.4% )suffered interventricular septal defection, 5 ( 5.2% ) were cases of Tetralogy of Fallot, 3 ( 3.1% ) were subvalvular pulmonic stenosis cases, 4 ( 4.1% ) were cases of cardianastrophe by mirror plane, 7 ( 7.2% ) suffered right sided aortic arch and the other 2 ( 2.1% ) showed complicated deformity. These cases shared the X - ray manifestations of increased or decreased pulmonary blood flow as well as an abnormal heart shadow. Conclusion Digital X - ray photography is a simple, safe, shortcut technique with few contraindications and a complete view of both the heart and the lungs. It is also important in the postoperative follow-up and still provide unique and valuable information for the diagnosis of congenital heart disease till now.%目的 探讨数字化X线摄影在先天性心脏病诊断中的应用价值.方法 收集我院2009-01-01-10-31经数字化X线摄影检查阳性并经临床随访或手术证实的先天性心脏病患者97例,对其临床及影像学资料进行回顾性分析.结果 97例患者中,房间隔缺损46例(47.4%),动脉导管未闭17例(17.5%),室间隔缺损13例(13.4%),法洛四联症5例(5.2%),肺动脉瓣狭窄3例(3.1%),镜面右位心4例(4.1%),右位主动脉弓7例(7.2%),其他复杂畸形2例(2.1%).X线表现为:肺血增多、肺血减少及心影形态失常.结论 数字化X线摄影准备简单、安全、快捷,禁忌证少,整体感强,同时还是术后随访的重要检查手段,目前仍然能够为先天性心脏病的诊断提供独特和有价值的信息.

  18. Esophageal duplication and congenital esophageal stenosis.

    Science.gov (United States)

    Trappey, A Francois; Hirose, Shinjiro

    2017-04-01

    Esophageal duplication and congenital esophageal stenosis (CES) may represent diseases with common embryologic etiologies, namely, faulty tracheoesophageal separation and differentiation. Here, we will re-enforce definitions for these diseases as well as review their embryology, diagnosis, and treatment. Copyright © 2017. Published by Elsevier Inc.

  19. 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.)

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

    Science.gov (United States)

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

    2015-01-01

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

  1. Congenital syphilis in a two-month-old infant

    Directory of Open Access Journals (Sweden)

    Daniele Serranti

    2011-06-01

    Full Text Available This report describes a rare case of congenital syphilis in a two-month-old Romanian infant. Diagnosis was possible when the baby showed decrease in the left upper limb movements and a papular rash. Her father had been infected and transmitted the infection to the mother, who had two non-treponemal serological tests during pregnancy, both with negative results. Congenital syphilis was confirmed by serological tests and the newborn was successfully treated. A global overview on diagnosis and treatment of children with suspected congenital syphilis is presented.

  2. 先天性胆总管囊肿穿孔诊断及手术现状%The status quo of the diagnosis and surgery of congenital bile duct cysts perforation

    Institute of Scientific and Technical Information of China (English)

    陈思(综述); 张明满(审校)

    2016-01-01

    先天性胆总管囊肿穿孔是胆总管囊肿的严重并发症,是小儿急性腹膜炎的重要原因,除一般临床症状,全身中毒症状重,引起严重后果。由于临床症状缺乏特异性,常致漏诊、误诊发生。常用辅助检查包括腹腔穿刺抽液,B超、C T等。目前常用治疗手段为手术,1期根治术:胆总管囊肿切除加胆道重建术,即胆总管-空肠R-Y吻合术;分期手术:1期行引流术,3~6个月后再行2期根治术;使用腹腔镜Ⅰ期行引流术,可为二期根治术创造更好解剖条件。%Congenital bile duct cysts perforation is a common bile duct cyst of serious complications, is the important reason of children acute peritonitis. Due to the lack of specific clinical symptoms often cause of missed diagnosis and misdiagnosis. Commonly used auxiliary examination include:abdominal puncture pumping fluid, B ultrasonic, CT, etc. At present commonly used treatment for surgery. 1 radical prostatectomy:common bile duct cyst resection with biliary revascularization. Drainage, staging surgery:1 line again 2) 3~6 months after radical prostatectomy. Using laparoscopic drainage, can create better for the second phase of radical dissection.

  3. Idiopathic erythermalgia: a congenital disorder.

    Science.gov (United States)

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

    1989-11-01

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

  4. [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.

  5. Radiologic imaging of congenital gastrointestinal anomalies in infants

    Directory of Open Access Journals (Sweden)

    Leny Zabidi

    2014-11-01

    Full Text Available Background Congenital gastrointestinal anomalies may manifest signs or symptoms in the first few days of life, most commonly in the form of obstructions. Radiologic imaging plays an important role in diagnosis confirmation and surgical correction plans. Most cases may be diagnosed by plain radiographs alone, but CT scans and MRI may be needed to make accurate diagnoses, especially in difficult cases. Objective To report radiologic imaging findings in infants with congenital gastrointestinal anomalies. Methods For this retrospective, cross-sectional study we took secondary data from medical records of infants with congenital gastrointestinal anomalies in Dr. Kariadi Hospital, Semarang, Indonesia from January 2010 – June 2011. Diagnosis of congenital anomalies was confirmed by clinical manifestation and radiologic imaging. Radiologic findings were reviewed by a single radiologist on duty at that time. Data is presented in the form of frequency distribution. Results Subjects consisted of 50 males and 23 females. The most common complaints were vomiting in 14 subjects (19%, abdominal distension in 31 subjects (43%, and fecal passage dysfunction in 28 subjects (38%. Radiologic imaging of subjects with congenital gastrointestinal anomalies revealed the following conditions: anal atresia in 28 subjects (38%, congenital megacolon in 21 subjects (29%, esophageal atresia in 14 subjects (19%, duodenal atresia in 9 subjects (12%, and pyloric atresia in 1 subject (2%. Conclusion Using radiologic imaging of infants with congenital gastrointestinal anomalies, the most to least common conditions found were anal atresia, congenital megacolon, esophageal atresia, duodenal atresia, and pyloric atresia.

  6. Congenital right hemidiaphragmatic agenesis

    OpenAIRE

    Bilal Mirza; Zahid Bashir; Afzal Sheikh

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right...

  7. 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...

  8. Evaluation of the value for prenatal ultrasound applied in diagnosis and identification of congenital pulmonary sequestration%产前超声检查在胎儿隔离肺诊断与鉴别中的价值

    Institute of Scientific and Technical Information of China (English)

    王渝洲; 肖咸英

    2012-01-01

    目的 探讨产前超声检查在胎儿隔离肺诊断与鉴别中的价值,以提高隔离肺的产前诊断率.方法 应用超声检查对15例疑诊胎儿隔离肺孕妇行中晚期系统胎儿畸形筛查,重点扫查胎儿双侧肺,观察病灶的二维超声图像特征,并用CDFI探查病灶的血供来源及内部血流情况,同时注意是否合并其他胎儿结构异常,随访临床影像或病理检查结果.结果 13例胎儿产后病理或影像学检查证实为隔离肺,产前超声诊断的准确率为86.7%(13/15例);2例肺囊腺瘤(13.3%)误诊.胎儿隔离肺典型二维超声图像特征是:胎儿胸腔内或腹腔内强回声或稍强回声团块、呈三角形或叶状、内部回声均匀、边界清.与肺囊腺瘤鉴别诊断的关键是隔离肺供血动脉来自体循环动脉或其分支.结论 产前超声是胎儿隔离肺畸形诊断与鉴别诊断较准确、可靠的方法,具有重要的临床应用价值.%Objective To evaluate the value for prenatal ultrasound applied in diagnosis and identification of congenital pulmonary sequestration. Methods 15 cases of pregnant women suspected fetal PS were examined in the late systemic fetal malformation screening, focus scanning for the fetus with bilateral lung observed lesions of the two dimensional ultrasound images feature, and the blood flow of the blood supply and internal lesions CDFI probe. Also note that a merger of other fetal structural abnormalities, follow up clinical and imaging or pathological examination. Results 13 cases patients with PS were confirmed by the postpartum fetal pathology or imaging studies, the coincidence rate was approximately 86. 7% (13/15),There were 2 cases patients who belonged to missed diagnosis as pulmonary cystadenoma. The PS is characterized by a typical two dimensional ultrasound image of chest or abdominal fetal echogenic mass or slightly stronger echo, triangular or leaf, the internal echo uniform,border clearance. The key to the

  9. Congenital Diaphragmatic Hernia

    Science.gov (United States)

    2012-01-01

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

  10. Congenital Progressive Mutilating Hemangioma

    Directory of Open Access Journals (Sweden)

    Anastasiya Chokoeva

    2017-06-01

    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  11. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

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

  12. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  13. 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.

  14. 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.

  15. Arthrogryposis Multiplex Congenita: Multiple Congenital Joint Contractures

    Directory of Open Access Journals (Sweden)

    Hamza Sucuoglu

    2015-01-01

    Full Text Available Arthrogryposis multiplex congenita (AMC is a syndrome characterized by nonprogressive multiple congenital joint contractures. The etiology of disease is multifactorial; it is most commonly suspected from absent fetal movements and genetic defects. AMC affects mainly limbs; also it might present with other organs involvement. It is crucial that the diagnosis of AMC should be kept in mind by musculoskeletal physicians in newborns with multiple joint contractures and patients must begin rehabilitation in early stage after accurate diagnosis in terms of functional independence. We present the diagnosis, types, clinical features, and treatment approaches of this disease in our case with literature reviews.

  16. [Congenital malformations: care or predict?].

    Science.gov (United States)

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  17. 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.

  18. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

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

    2017-01-01

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

  19. 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

  20. The diagnosis and therapy of septic shock after congenital heart operation%先天性心脏病术后感染性休克的诊疗特点

    Institute of Scientific and Technical Information of China (English)

    贺彦; 王旭; 黄飞琼; 杨菊先

    2008-01-01

    目的 总结婴幼儿先天性心脏病术后感染性休克的诊治特点.方法 对中国医学科学院阜外心血管病医院小儿心脏外科监护室在2006年6月至10月收治的422例心脏病术后病例进行回顾性研究.治疗方法 包括:(1) 液体快速扩容(5~10ml/kg),30min泵入,积极纠正酸中毒;(2) 常规应用多巴胺、多巴酚丁胺和米力农或硝酸甘油,必要时应用肾上腺素[0.05~0.5μg/(kg·min)];(3) 经上述处理,仍不能维持满意的血压时,加用去甲肾上腺素[0.2~0.5μg/(kg·min)],同时继续扩容;(4) 上述治疗1~2h仍不能纠正低血压或组织灌注不足时,加用垂体后叶素0.1~0.8U/h静脉泵入;(5) 继续输液:5~10ml/(kg·h),维持4~8h.结果 按照我中心自主提出的心脏体外循环术后感染性休克的诊断标准,14例患儿术后发生感染性休克.经过治疗,所有患儿的血压和组织灌注指标均明显好转.存活10例,死亡的4例患儿全部有外科原因.结论 先天性心脏病术后感染性休克的诊断有自身特点,结合心脏病特点抗休克治疗可取得较好效果,决定预后的关键是原发病的治疗情况.%Objective To analyse the characteristics of the diagnosis and managements of septic shock after congenital heart operation.Methods From June to October in 2006,we successively observed 422 patients under cardiac operation.Our diagnostic criterion of septic shock after congenital heart operation was below:(1) body temperature above 38.5℃ after 72 hours post-operatively,or after a period of normal temperature;(2) low blood pressure and/or obvious low organs perfusion not related to the operation,or inexplicably hemodynamic changes which had not been resolved after operation;(3) focus of infection;(4) WBC count>20×109/L or85%,Hb and PLT decreased sharply;(6) CRP increased rapidly;(7) PCT increased rapidly;(8) positive culture.If the patient showed (1),(2) and one of (3)~(8),we should diagnose him/her septic shock

  1. Evaluation of congenital heart disease by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Roos, A. de; Roest, A.A.W. [Department of Radiology, Leiden University Medical Center (Netherlands)

    2000-01-01

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

  2. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  3. [Ultrasonic diagnosis of congenital uterine abnormalities].

    Science.gov (United States)

    Funk, A; Fendel, H

    1988-01-01

    1-2% of women has abnormal uterine development due to nonunification of the Müllerian ducts in the embryonal period. At the RWTH Aachen, in the department of gynaecology and obstetrics, between January and June 1987, we had searched systematically for maldevelopment of the uterus in 2299 echosonografies. In 13 cases we found maldevelopment of internal genital; 5 of these cases were diagnosed by an echosonografic routine-examination. The echografic criteria of the different grades of uterine malformations have been determined, systematized and discussed in relation to the symptoms. The most frequent malformations as uterus subseptus, uterus septus, uterus bicornis and uterus duplex are subject of a detailed discussion. This work demonstrates that echosonografic is a very efficient instrument to diagnose uterine malformations and gives us a very exact anatomic interpretation of malformations.

  4. [Congenital prenatal hemangioma: diagnosis and treatment].

    Science.gov (United States)

    Bourdelat, D; Melki, E; Mazzola, C; Marreel, A

    2010-04-01

    An echogenic tumor (22 x 22 mm) isolated from the anterior part of the left leg at 27 WA of pregnancy suggested an angiomatous structure. This mass appeared to be well vascularized on Doppler examination. Three-dimensional imaging showed connections with adjacent tissues. The limbs were mobile. Delivery of a 3990-g-boy occurred normally. On the anterior part of the left leg, there was a plate-shaped mass with a pink hole at the superior part. Excision under general anesthesia was performed at the first month because of the risk of rupture and bleeding. The dissection was easy with the deep plane. Healing was complete 10 days after the surgical procedure and the aesthetic aspect was good 1 year later. Histological findings of the suspect mass emphasize the vascular aspect of the tumor. A hemangioma capillary with venous structures in the dermal hypodermic area was found.

  5. 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

  6. 染色体核型分析在诊断先天性心脏病的临床应用%Chromosomal analyses for the diagnosis of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    梁春荣; 卢俊娴; 李春华

    2014-01-01

    Objective:To determine the clinical significance of chromosomal analyses for the diagnosis of congenital heart disease ( CHD ) . Methods: A total of 100 patients with CHD ( observation group ) and 100 healthy children (control group) were recruited between February 2009 and January 2009 in Wuyi Hospital of Traditional Chinese Medicine for sampling of umbilical cord blood to conduct chromosomal analyses. Results:Of the 95 cases detected as having abnormal chromosomes in the observation group, 33 had Down? syndrome, 30 balanced translocation, 10 Turner syndrome and 2 other diseases. In control group, of the 5 abnormal cases, 2 had Down syndrome, 1 Rett syndrome and one 18 trisomy syndrome. Conclusion:Chromosomal analyses possess a high diagnostic value for CHD and merits combination with other diagnostic tools to improve the detection rate.%目的:探讨染色体核型分析在先天性心脏病的临床诊断意义。方法:选择2009年2月至2013年1月五邑中医院收治的100例先天性心脏病患儿作为观察组,同期100例健康儿童作为对照组,采集脐血进行染色体核型分析。结果:观察组患儿染色体分析检出异常95例(阳性检出率95.0%),其中Down综合征33例、平衡易位30例、Turner综合征10例、其他2例。而对照组染色体分析检出异常5例(阳性检出率5.0%),其中Down综合征2例、Rett综合征1例、18 三体综合征1例。结论:染色体分析对先天性心脏病的临床诊断具有较好价值,但仍需与其他诊断方法相结合,以提高检出率。

  7. Molecular genetics of congenital nuclear cataract.

    Science.gov (United States)

    Deng, Hao; Yuan, Lamei

    2014-02-01

    A cataract is defined as opacification of the normally transparent crystalline lens. Congenital cataract (CC) is a type of cataract that presents at birth or during early childhood. CC is one of the most common causes of visual impairment or blindness in children worldwide. Approximately 50% of all CC cases may have a genetic cause which is quite heterogeneous. CC occurs in a variety of morphologic configurations, including polar/subcapsular, nuclear, lamellar, sutural, cortical, membranous/capsular and complete. Nuclear cataract refers to the opacification limited to the embryonic and/or fetal nuclei of the lens. Although congenital nuclear cataract can be caused by multiple factors, genetic mutation remains to be the most common cause. It can be inherited in one of the three patterns: autosomal dominant, autosomal recessive, or X-linked transmission. Autosomal dominant inheritance is the most frequent mode with high penetrance. There may be no obvious correlation between the genotype and phenotype of congenital nuclear cataract. Animal models have been established to study the pathogenesis of congenital nuclear cataract and to identify candidate genes. In this review, we highlight identified genetic mutations that account for congenital nuclear cataract. Our review may be helpful for genetic counseling and prenatal diagnosis.

  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. Evaluation on the virtual CT endotoscope for the diagnosis of ossicular chain lesions accompanied with congenital aural deformity%虚拟CT耳镜对先天性耳畸形听骨链病变的诊断价值

    Institute of Scientific and Technical Information of China (English)

    蒋立新; 涂博; 罗冬

    2011-01-01

    目的 通过虚拟CT耳镜观察,探讨其对先天性耳畸形听骨链病变的诊断价值.方法 对30例(43耳)先天性耳畸形患者,高分辨率CT扫描获取病变部位的原始图像数据,经三维重建后,以虚拟CT耳镜方式观察听骨链病变情况,然后与手术探查结果对比分析.结果 虚拟CT耳镜清楚显示发育不全的听小骨及畸形听骨链状态,其中外耳道闭锁21例(30耳),包括锤骨发育不全18耳,砧骨发育不全13耳,锤砧骨缺如3耳,镫骨畸形13耳,镫骨缺如4耳,锤砧关节畸形融合20耳,砧镫关节畸形融合7耳,砧镫关节软组织连接2耳;9例(13耳)单纯性中耳畸形,其中锤骨头与砧骨体包埋在上鼓室内上壁2耳,锤骨头与上鼓室壁骨性连接3耳,锤骨柄远端与鼓环骨性连接1耳,砧骨长脚发育不全4耳,镫骨异位1耳,镫上结构缺如3耳,其中前庭窗闭锁1耳,镫上结构畸形2耳.31耳行手术治疗,术前虚拟CT耳镜观察与术中探查听骨链异常基本符合.结论 虚拟CT耳镜清楚显示先天性耳畸形听骨链异常结构,为术前明确诊断和确立手术方式提供可靠的影像学依据.%Objective To investigate the value of virtual CT endotoscope for the diagnosis of ossicular chain lesions accompanied with congenital aural deformity. Methods Thirty cases (43 ears) with congenital aural deformity were undergone high resolution CT scanning to collect the original image data from the focus in middle ear, followed by 3-dimensional reconstruction to process these images for evaluating the possibly presented lesions with the ossicular chain. Then, a comparative analysis was made on the virtual CT endotoscopic findings in a correlative consideration with that actually found during the operation on the ossicular chain lesions. Results 30 ears were aural atresia which contained malleus hypoplasia in 18 ears, incus hypoplasia in 13 ears, malleus and incus absence in 3 ears, stapes abnormity in 13 ears, stapes absence in

  10. 先天性虹膜-脉络膜缺损患者14例临床诊疗分析%Analysis of 14 cases of congenital coloboma of iris and choroid:from diagnosis to treatment

    Institute of Scientific and Technical Information of China (English)

    张丽娟; 张琰; 刘巨平; 李筱荣

    2012-01-01

    Objective To summarize the clinical characteristics,symptoms,diagnosis , treatment and prognosis of congenital coloboma of iris and choroid for better guidance of clinical practice. Methods The clinical data were collected from the patients diagnosed as congenital coloboma of iris and choroid in our hospital from 2008 to 2010. The ophthalmic examinations, pathological characteristics, treatment and prognosis of these patients were summarized. Results Twenty-four eye in 14 cases all exhibited typical inferior coloboma of iris. The choroidal coloboma was a large fan-shaped defect spanning 4 to 6 o' clock below optic disc. The coloboma was with similar size. The main complications of these patients included microphthalmia, small corneal,strabismus ,nystagmus,amblyopia,refractive error,low vision,age-related cataract,glaucoma and retinal detachment. Age-related cataract(7 cases) ,retinal detachment(5 cases) and open-angle glaucoma(2 cases) were the main reasons to be admitted to the hospital. One year after phacoemulsification and intraocular lens implantation,the visual acuity in operated eyes of these patients was from 0.5 to 1.0, which improved more than six lines. After vitrectomy combined with intraocular photocoagulation and silicone oil tam ponade,one year following the surgery the visual acuity in operated eyes was from 0. 05 to 0. 3 ,and the retinal re-attached rate was 100% . After composite trabeculectomy ,the visual acuity decreased slightly one year,but was still between counting fingers/30 cm and 0.4. Conclusion Comprehensive eye examination should be performed for the patients with congenital coloboma of iris and choroid in clinical practice, so that the main vision-threatening complications can be detected and treated as early as possible.%目的 总结先天性虹膜-脉络膜缺损患者的病变特征、伴随症状、诊疗及其预后,以便更好地指导临床实践.方法 收集我院2008年至2010年住院患者中发现的先天性虹膜-脉

  11. 超声在不同时期先天性肌性斜颈患儿中的诊断价值%Value of ultrasonography in diagnosis of children with congenital muscular torticollis in different stages

    Institute of Scientific and Technical Information of China (English)

    王磊; 邱逦; 于雷

    2012-01-01

    目的 探讨超声对不同时期先天性肌性斜颈(CMT)患儿的诊断价值.方法 回顾性分析50例经临床或手术证实为CMT患儿的声像图特点,包括病变区域边界、胸锁乳突肌(SCM)厚度、回声强度及彩色多普勒血流表现,比较﹤1岁患儿和≥1岁患儿超声表现的差异性.结果 50例患儿中,超声诊断CMT患儿46例,诊断准确率92.0%.28例﹤1岁患儿超声表现为患侧SCM局限性增厚,彩色多普勒血流成像(CDFI)示部分病变内部或周边点线状血流信号;18例≥1岁患儿超声表现为患侧SCM厚度多变薄,肌层回声可弥漫性增强或肌层内出现条带状强回声,CDFI未见明显血流信号.两组患儿受累SCM的超声特征比较差异有统计学意义(P﹤0.05).结论 不同时期CMT患儿的二维及彩色多普勒超声表现具有特异性,可指导临床医师选择合适的治疗方式.%Objective To explore the value of ultrasonography in diagnosis of children with congenital muscular torticollis (CMT) in different stages. Methods The sonographic features of 50 patients with CMT proved by the clinical diagnosis and operation were analyzed retrospectively, including the boundary, sternocleidomastoid muscle (SCM) thickness,echo intensity and color Doppler flow imaging of the lesion. The sonographic features of CMT between the children < 1 year old(n=28) and = 1 year old(n=18) were compared. Results Forty-six cases of 50 patients were diagnosed as CMT by ultrasonography, the diagnostic ac-curacy rate was 92.0%. There were significant differences between the children < 1 year old and =1 year old (P < 0.05 ). The ul-trasonographic appearances of the children < 1 year old included local thickening of SCM and point or linear blood flow signals in-side or around the lesions, while those of the children = 1 year old included thinning of the affected SCM, diffusely increased echo signals, or cord-like hyperechoic signals inside the muscle layer and no significant blood flow

  12. Transvaginal Three-dimensional Ultrasound Uterine Angiography in the Diagnosis of Congenital Uterine Malformation%经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值

    Institute of Scientific and Technical Information of China (English)

    张忠德; 赖胜坤

    2016-01-01

    目的::对经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值进行评价分析,为收治的疑似子宫畸形患者39例,进行宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,为临床诊断工作提供有价值的参考信息。方法:选择2013年1月~2015年6月间某院收治的疑似子宫畸形患者39例,对其展开宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,并以宫腔镜、腹腔镜检查结果为依据进行对照分析。结果:本组患者有7例患者确诊为完全纵膈子宫,有21例患者确诊为不完全纵膈子宫,9例患者确诊为双角子宫,2例患者确诊为单角子宫,经三维超声宫腔造影检对阴道查子宫畸形诊断的准确率为100%。结论:经阴道三维超声宫腔造影检查可准确判断子宫畸形及其类型,操作简单易行,临床价值显著值得关注并推广使用。%Objective:To analyze and evaluate transvaginal three-dimensional ultrasound uterine angiog-raphy in the diagnosis of congenital uterine malformation.Receive 39 patients with suspected uterine malfor-mation and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline,aiming to offer to offer valuable reference for clinical diagnosis.Methods:Select 39 patients with suspected uterine malformation treated in a hospital from January 2013 to June 2015 and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline.finally compare the resulats checked by hysteroscopy and laparoscopy.Results:Among the pa-tients,7 were diagnosed mediastinum uterus completely,21 patients diagnosed with incomplete mediastinum uterus,9 cases diagnosed with double angle of uterus,2 patients diagnosed with single angle uterus.Uterine cavity imaging by three-dimensional ultrasound screening for vaginal uterine malformation diagnostic accura-cy was 100

  13. Prenatal findings in congenital leukemia: a case report.

    OpenAIRE

    2011-01-01

    We here describe a case of congenital leukemia that ended in intrauterine fetal demise at 30 weeks of gestation. Acute enlargement of the fetal trunk, elevated pulsatility index of the umbilical artery with concomitant decline of pulsatility index of the middle cerebral artery, pleural effusion, and polyhydramnios preceded the fetal death. Diagnosis of congenital myeloid leukemia was suggested by microscopic examination of the placental tissue, revealing immature myeloid precursors filling th...

  14. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    OpenAIRE

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang; Spiess, Alexander M.

    2016-01-01

    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and managemen...

  15. Congenital Osteofibrous dysplasia, Involving the tibia of a neonate

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Sang Yoon; Lee, Sang Hoon [Dept. of Radiology and Research Institute of Radiology, University of Ulsan College of Medicine, Asan Medical Center, Seoul (Korea, Republic of)

    2015-11-15

    Osteofibrous dysplasia (OFD) is a benign fibro-osseous lesion found in long bones, and congenital OFD in neonates is very rare. The diagnosis of OFD in neonates is difficult, and it is sometimes misidentified as any of a number of other congenital tumors or tumor-like lesions, in which case biopsies are often necessary. After a histological confirmation of OFD, non-surgical or delayed surgical treatment is generally recommended. We present image findings from the radiographs and magnetic resonance images in the case of a 7-day-old female infant with pathologically confirmed congenital OFD.

  16. Congenital rickets presenting as refractory respiratory distress at birth.

    Science.gov (United States)

    Tiwari, Soumya; Kumar, Rajesh; Singla, Shilpy; Dudeja, Ajay; Nangia, Sushma; Saili, Arvind

    2014-08-01

    Congenital rickets is a very rare entity in the spectrum of metabolic bone disease in children. The authors report an as yet unreported case of congenital rickets presenting with respiratory distress at birth. The radiographs of long bones and wrist showed generalized osteopenia with cupping and fraying of epiphyseal ends in the second week of life. The patient was managed with very high doses of vitamin D which led to clinico-radiological and biochemical improvement. More than being interesting for its extreme rarity, this report assumes importance as it brings forth the possibility of congenital rickets being a differential diagnosis for a newborn with respiratory distress.

  17. A congenital mucocele of the anterior dorsal tongue.

    Science.gov (United States)

    Wong Chung, J E R E; Ensink, R J H; Thijs, H F H; van den Hoogen, F J A

    2014-07-01

    We report on a new-born with a congenital mucocele on the anterior dorsal side of the tongue. The presentation as well as the differential diagnosis of congenital oral swellings is discussed. Because of breastfeeding problems the mucinous swelling was incised and drained two days after birth. Immediately after drainage the swelling disappeared. Congenital oral swellings are rare. Most of them are mucoceles. Post-partum treatment is surgically, but spontaneous remission has been described. High incidence of recurrence should be taken into account when (micro-)marsupialization or incision as sole treatment is performed. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  18. Septo-optic dysplasia with bilateral congenital corneal anesthesia.

    Science.gov (United States)

    Chow, Clement C; Kapur, Rashmi; Wood, Michael G; Setabutr, Pete; Tu, Elmer Y

    2009-10-01

    Septo-optic dysplasia, or de Morsier syndrome, is characterized by optic nerve hypoplasia with an absent septum pellucidum and/or pituitary abnormalities. Congenital corneal anesthesia is a rare disorder that has been associated with many neurological disorders. Here we present a patient with both conditions who was successfully treated with permanent lateral tarsorrhaphy and aggressive lubrication. To our knowledge, congenital corneal anesthesia has not been reported in association with septo-optic dysplasia. The purpose of this report is to make pediatric ophthalmologists aware of a potential association since the diagnosis of congenital corneal anesthesia is often difficult and delayed.

  19. Familial isolated congenital asplenia: case report and literature review.

    Science.gov (United States)

    Ahmed, Syed Ather; Zengeya, Stanley; Kini, Usha; Pollard, Andrew J

    2010-03-01

    Congenital asplenia is a rare life-threatening condition, often presenting with pneumococcal sepsis. It may arise as part of situs abnormalities or result from an unrelated specific defect of spleen development. The mode of inheritance is usually autosomal dominant, though sporadic cases are also reported. In affected individuals, the use of appropriate antibiotic prophylaxis and immunisations could save lives. In our report, we describe a family of three siblings with isolated congenital asplenia and unaffected parents, suggestive of recessive inheritance. The diagnosis in the proband was made post mortem following overwhelming pneumococcal sepsis. We also review the literature and compare the eight families previously reported with congenital isolated asplenia.

  20. Diagnosis and treatment of protein plugs of the common channel in children with congenital biliary dilatation%先天性胆管扩张症合并共同管内蛋白栓的诊断和处理

    Institute of Scientific and Technical Information of China (English)

    李龙; 张金山; 孙海林; 袁新宇; 刘树立; 刁美; 张军

    2009-01-01

    目的 探讨先天性胆管扩张症合并共同管蛋白栓的诊断和清除方法.方法 2001年6月至2009年1月,在收治的先天性胆管扩张症203例患儿中,经手术前超声、CT、MRCP和术中胆道造影检查发现22例合并胰胆合流异常患儿的共同管内有蛋白栓存在,年龄1岁8个月至12岁,平均6.1岁.对其临床表现、影像学特点及手术中蛋白栓的清除方法进行分析,并对其术后症状、生化检测和胆道改变进行随访.结果 22例患儿均以腹痛症状为主,并发呕吐,其中13例患儿合并黄疸,2例囊肿穿孔.19例患儿腹痛的发作期,血和尿中的胰淀粉酶升高.术中胆道造影22例均发现共同管内充盈缺损和扩张,胰管显影,其中9例合并胰管扩张.采用插管和尿道镜冲洗清除后,共同管的直径回缩,胰管不再显影.蛋白栓非常脆软,很容易被水流的冲力破碎成较小的颗粒.经再次共同管造影证实,蛋白栓清除干净.其中8例经小儿尿道镜直视下证实蛋白栓清除干净.患儿随访3个月至8年,22例患儿经血生化和超声检查,无胰淀粉酶升高和再发共同管和胰管内结石者.结论 1岁以上先天性胆管扩张症患儿,以腹痛为主,发作时血和尿中的胰淀粉酶升高,影像学共同管充盈缺损和扩张者,应怀疑共同管内蛋白栓.术中胆道造影是可靠的诊断方法.插管冲洗或尿道镜下清除蚩白栓安全有效,远期预后好.%Objective To investigate the method of diagnosis and removal for protein plugs in the common channel in children with congenital biliary dilatation.Methods The clinical presentation,radiological features and surgical treatment of 22 cases with congenital biliary dilatation(CBD) with protein plugs of the common channel were analyzed.The postoperative symptoms,laboratory examination and bile duct changes were evaluated during follow-up term.Results The 22 children had an average age of 6.1 years,ranging from 1 year 8 months to 12

  1. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

  2. Congenital short pancreas

    Institute of Scientific and Technical Information of China (English)

    DU Juan; XU Guo-qiang; XU Ping; JIN En-yun; LIU Qiong; LI You-ming

    2007-01-01

    @@ Congenital short pancreas, also known as partial agenesis or hypoplasia of the dorsal pancreas1 is a rare congenital abnormality consisting of the parenchyma and ductal system restricted to the head with some residual dorsal tapering and arborizing ducts communicating with the minor papill.2 Complete pancreatic agenesis is fatal, and only nine possible examples of partial agenesis have been previously reported in adults in the literature.3-10 Three of them were polysplenia syndrome associated with short pancreas,and only six patients with congenital short pancreas with normal situs. Here we present a new case associated with steatorrhoea.

  3. 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...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  4. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

    Science.gov (United States)

    Fujino, Hisanori; Doisaki, Sayoko; Park, Young-Dong; Hama, Asahito; Muramatsu, Hideki; Kojima, Seiji; Sumimoto, Shinichi

    2013-05-01

    The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

  5. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  6. Congenital pancreatic pseudocyst presenting as neonatal ascites

    Directory of Open Access Journals (Sweden)

    M. Alzaiem

    2016-08-01

    Full Text Available Congenital pancreatic pseudocysts are extremely rare in infants and very few cases have been reported in the literature. We are reporting a case of 2-month-old infant with pancreatic pseudocyst. He presented with progressive abdominal distension and large bilateral hydrocele. The diagnosis was based on the operative findings and further confirmed by histopathological examination of the wall of pseudocyst. Later on the patient was operated by laparoscopic assisted transgastric cystogastrostomy technique.

  7. Congenital Diarrheal Disorders: An Updated Diagnostic Approach

    Directory of Open Access Journals (Sweden)

    Giuseppe Castaldo

    2012-03-01

    Full Text Available Congenital diarrheal disorders (CDDs are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

  8. 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.

  9. Congenital Adrenal Hyperplasia

    National Research Council Canada - National Science Library

    Speiser, Phyllis W

    2015-01-01

    Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group...

  10. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Acharya K

    1996-01-01

    Full Text Available A 16 days old male baby had congenital cutis laxa without family history. He had redundant and lax skin all over the body with slanting of the palpebral fissures medially and broad nasal root.

  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 tracheobiliary fistula.

    NARCIS (Netherlands)

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van

    2010-01-01

    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  13. 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 ...

  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. Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

    Energy Technology Data Exchange (ETDEWEB)

    Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

    2015-05-01

    Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

  16. 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...... 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...

  17. Congenital chylothorax in newborn with trisomy 21.

    Science.gov (United States)

    Lomauri, Kh

    2014-11-01

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

  18. NonClassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Azziz Ricardo

    2010-05-01

    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.

  19. 先天性内耳道狭窄的多层螺旋CT和MRI表现%CT and MRI diagnosis of congenital stenosis of the internal auditory canal

    Institute of Scientific and Technical Information of China (English)

    王林省; 张丽红; 李晓瑜; 陈月芹; 李娴; 孙占国; 王皆欢; 张谷青; 刘平

    2011-01-01

    Objective To investigate multiple slice computed tomography ( MSCT) and magnetic resonance imaging( MRI) features of congenital stenosis of the internal auditory canal (CSIAC) and improve the ability for diagnosis.Method Thirteen cases with fifteen ears were studied.In all cases a MSCT and MRI was performed.Results Eleven cases were unilateral,and 2 cases were bilateral.MSCT could show the narrowness of IAC.Three cases were isolated,but the others were combined with inner ear malformations.One ear had inner,middle and outer ear malformations.One ear had inner,middle,and outer ear malformations with a frontal bone malformation.MRI demonstrated that all of the vestibulocochlear nerves were hypoplastic.The cochlear nerve in seven ears was not present,in seven ears the nerve was thinner,and in the last case it was poorly visualized.The facial nerve in two ears was hypoplastic.Volume rendering( VR) could present the degree of the narrowed internal auditory canals,combined with other inner ear anomalies.Conclusion MSCT will show the degree of the narrow internal auditory canals and combined anomalies,while the MRI can further demonstrate the nerves' development.%目的 总结先天性内耳道狭窄的多层螺旋CT(multiple slices CT,MSCT)和MRI影像学特点,提高对该病的认识.方法 回顾性分析13例(15耳)先天性内耳道狭窄患者MSCT和MRI检查的影像资料.结果 先天性内耳道狭窄单侧11例,双侧2例.MSCT显示内耳道管腔不同程度狭窄.孤立性内耳道狭窄3耳,合并其他畸形12耳,其中10耳仅合并内耳畸形,1耳同时合并内、中、外耳畸形,另1耳同时合并内、中、外耳畸形及额骨发育畸形.MRI检查15耳均显示前庭蜗神经发育细小;其中7耳蜗神经未显示,7耳蜗神经发育细小,1耳蜗神经显示不清;其中2耳面神经发育细小.容积再现(volume rendering,VR)图像可立体显示内耳道狭窄程度及伴发的内耳畸形.结论 MSCT 可显示内耳道狭窄的程度

  20. Imaging of congenital diaphragmatic hernias

    Energy Technology Data Exchange (ETDEWEB)

    Taylor, George A.; Estroff, Judy A. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); Atalabi, Omolola M. [Harvard Medical School, Department of Radiology, Children' s Hospital Boston, Boston, MA (United States); The College of Medicine/University College Hospital, Ibadan (Nigeria)

    2009-01-15

    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.)

  1. Four-dimentional reconstruction by inversion mode of spatio-temporal image in prenatal diagnosis of congenital heart diseases%四维超声反转重建诊断胎儿先天性心脏病的临床研究

    Institute of Scientific and Technical Information of China (English)

    章鸣; 周启昌; 彭清海; 田蕾琪; 周嘉炜

    2011-01-01

    目的:探讨时间-空间相关成像(STIC)的反转模式重建诊断胎儿先天性心脏病的临床价值.方法:用STIC技术分别对30例正常胎儿和22例先天性心脏病胎儿进行图像采集,再用反转模式对采集的客积图像进行四维重建.结果:30例正常胎儿及22例先天性心脏病胎儿分别获取53(53/60)和38(38/44)个合格的容积图像,所有合格客积图像均成功地进行反转重建,重建图像能清楚、直观地显示心血管正常或异常的空间位置关系.结论:STIC四维反转重建的胎儿心脏与大血管的容积图像清晰直观,可用于胎儿先天性心脏病的产前诊断.%Objective To investigate the value of 4-dimensional reconstruction by inversion mode of spatio-temporal image correlation (STIC) in prenatal diagnosis of congenital heart diseases.Methods Cardiac volume images of 30 normal fetuses and 22 fetuses with congenital heart diseases were obtained by STIC gray-scale 2-dimensional imaging technique.Under the guidance of crosssectional display, the images were collected by inversion mode.Results A total of 53 and 38 qualifted volume images were obtained in the 30 normal fetuses and 22 fetuses with congenital heart diseases respectively.All volume images were inverted successfully and showed the spacial position of the heart and blood vessel directly.Conclusion Four-dimensional reconstruction by inversion mode of STIC is feasible.This new method can provide more morphologic information, and may be used for prenatal diagnosis of congenital heart diseases.

  2. B-flow显像与时间-空间相关成像联合诊断胎儿先天性心脏病的应用研究%Combination of B-flow imaging and spatio-temporal image correlation in prenatal diagnosis of congenital heart diseases

    Institute of Scientific and Technical Information of China (English)

    章鸣; 周启昌; 彭清海; 田蕾琪; 蒲大容

    2009-01-01

    目的 探讨B-flow显像与时间-空间相关成像联合诊断胎儿先天性心脏病的临床价值.方法 用B-flow显像分别对50例正常胎儿和14例先天性心脏病胎儿进行时间-空间相关成像(STIC)采集,再用表面模式对采集的容积图像进行四维重建.结果 50例正常胎儿及14例先天性心脏病胎儿在B-flow显像方式下进行STIC采集,分别成功地采集到63(63/71)、26(26/29)个合格的容积图像,四维重建的容积图像能清楚显示心血管正常或异常的空间位置关系.其中主、肺动脉等大血管的"数字铸型"、三至四条肺静脉同时显示等是二维超声所无法观察到的.结论 联合应用B-flow显像与STIC技术采集的胎儿心脏与大血管的容积图像清晰直观,并可获取二维超声心动图所无法提供的某些胎儿心脏解剖及病理特点的信息.%Objective To investigate the value of combination of B-flow imaging and spatio-temporal image correlation in prenatal diagnosis of congenital heart diseases. Methods Volume images of 50 normal fetuses and 14 fetuses with congenital heart diseases were recruited in the study. Surface mode was used to reconstruct the volume images. Results Sixty-three and twenty-six qualified volume images were obtained in 50 normal fetuses and 14 fetuses with congenital heart diseases respectively. All volume images were reconstructed successfully and showed the spacial relationship of cardiac blood vessel directly. Conclusions The combination of B-flow imaging and spatio-temporal image correlation was feasible and useful in prenatal diagnosis of congenital heart diseases.

  3. Lymphoscintigraphy patterns in newborns and children with congenital lymphatic dysplasia.

    Science.gov (United States)

    Bellini, C; Villa, G; Sambuceti, G; Traggiai, C; Campisi, C; Bellini, T; Morcaldi, G; Massocco, D; Bonioli, E; Boccardo, F

    2014-03-01

    We performed lymphoscintigraphy on 31 patients (newborns and children) affected by congenital lymphatic dysplasia according to our previously published protocol. Congenital lymphatic dysplasia may present with various degrees of clinical severity, ranging from nonimmune hydrops fetalis with visceral effusions to lymphedema alone. We recommend that lymphoscintigraphy should be strongly considered in all patients with signs of lymphatic dysplasia, including those with minimal and initial signs of lymphatic impairment, in order to obtain a very early diagnosis and to start treatment. Lymphoscintigraphy is safe and useful in the diagnosis of lymphatic dysplasia in the newborn and children. Moreover, it is well tolerated by patients and well accepted by their parents.

  4. [Congenital broncho-biliary fistula: a case report].

    Science.gov (United States)

    Pérez, Cinthia G; Reusmann, Aixa

    2016-10-01

    Congenital tracheo-or-bronchobiliary fistula or congenital he-patopulmonary fistula is a rare malformation with high morbidity and mortality if the diagnosis is not made early. The tracheo-or-bronchobiliary fistula is a communication between the respiratory (trachea or bronchus) and biliary tract. To date, only 35 cases have been published worldwide. We report a case of a neonate with right pneumonia and bilious fluid in the endotracheal tube. Diagnosis was made using bronchoscopy with fluoroscopy. Videothoracoscopy was used to remove the bronchobiliary fistula. Subsequently, a left he-patectomy with Roux-en-Y biliary-digestive anastomosis was performed as bile ductus hypoplasia was present.

  5. 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. © 2016 S. Karger AG, Basel.

  6. Congenital methemoglobinemia. Report of a case

    Directory of Open Access Journals (Sweden)

    Zárate Aspiros Romeo

    2014-07-01

    Full Text Available Methemoglobinemia is a condition in which there are high blood levels of methemoglobin. It may be congenital or acquired. The congenital form (which is rare is the result of a defect in the methemoglobin reductase enzyme, dependent of the nicotinamide adenine dinucleotide phosphate reduced (NADPH; it is also caused by hemoglobinopathies. Congenital methemoglobinemia type 2 constitutes 10% of all cases and is usually fatal in early life. Its main feature is progressive neurological deterioration associa- ted with mental retardation, microcephaly, opisthotonos, athetotic movements, and generalized hypertonia. We report the case of a newborn with cyanosis from birth in whom perinatal hypoxia, pulmonary disease, heart failure and sepsis were ruled out, hence methemoglobin levels were requested, which led to the diagnosis of congenital methemoglobinemia based on a methemoglobin of 29.6%. Methemoglobin values were investigated in his 2 years old brother, who was cyanotic and showed progressive psychomotor retardation from birth; his methemoglobin was 30%. We concluded that both patients had type 2 hereditary methemoglobinemia in view of the severe neu- rological disorders of the older brother. Treatment with ascorbic acid was initiated in both siblings, resulting in the disappearance of cyanosis in the newborn.

  7. Diagnosis of congenital bicuspid aortic valve with color Doppler ultrasonography%彩色多普勒超声诊断先天性二叶式主动脉瓣

    Institute of Scientific and Technical Information of China (English)

    秦良; 秦迎

    2010-01-01

    @@ 先天性二叶式主动脉瓣(congenital bicuspid aortic valve, CBAV)是一种常见的先天性瓣膜畸形,尸检发生率约1%~2%,男多于女~([1]).该病临床易误诊、漏诊,而超声对其可迅速、准确做出诊断.

  8. Congenital toxoplasmosis in a reference center of Paraná, Southern Brazil.

    Science.gov (United States)

    Capobiango, Jaqueline Dario; Breganó, Regina Mitsuka; Navarro, Italmar Teodorico; Rezende Neto, Claudio Pereira; Casella, Antônio Marcelo Barbante; Mori, Fabiana Maria Ruiz Lopes; Pagliari, Sthefany; Inoue, Inácio Teruo; Reiche, Edna Maria Vissoci

    2014-01-01

    This study describes the characteristics of 31 children with congenital toxoplasmosis children admitted to the University Hospital of Londrina, Southern Brazil, from 2000 to 2010. In total, 23 (85.2%) of the mothers received prenatal care but only four (13.0%) were treated for toxoplasmosis. Birth weight was diagnosis and treatment of toxoplasmosis during pregnancy to reduce congenital toxoplasmosis and its consequences.

  9. Familial congenital hepatic fibrosis: report of a family with three affected children.

    Directory of Open Access Journals (Sweden)

    Fatemeh Farahmand

    2013-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. Herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (CHF. Prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affected patients.

  10. [Acute retention of urine secondary to a congenital diverticulum of the bladder].

    Science.gov (United States)

    Azahouani, A; Hida, M; Lasseri, A; Lahfaoui, M; Zaari, N; Belahcen, M; Elazzouzi, D; Benhaddou, H

    2016-10-01

    Bladder diverticula in children are mostly congenital, frequently associated with vesicoureteral reflux. Their positive diagnosis is based primarily on retrograde urethrocystography. One complication of this condition is acute urinary retention. We report the case of a 4-month-old infant who presented acute retention of urine secondary to bilateral congenital bladder diverticulum and review the literature on this subject.

  11. Genetics of Congenital Cataract.

    Science.gov (United States)

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

    2016-01-01

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

  12. Congenital Unilateral Corneal Anaesthesia with Microphthalmos: A Case Report

    Directory of Open Access Journals (Sweden)

    George Voyatzis

    2012-01-01

    Full Text Available Congenital corneal anaesthesia (CCA is an uncommon condition difficult to diagnose. We report the case of a 20-month-old boy who presented with unilateral congenital corneal anaesthesia. The child was referred with a persistent corneal epithelial defect, unresponsive to symptomatic local treatment for over 10 months. Intensive topical treatment and strict corneal protection led to quick corneal healing. Congenital corneal anaesthesia occurs either alone or in association with neurological diseases or systemic congenital abnormalities. It is important to search for corneal anaesthesia in children with chronic ulcerations of the cornea and self-inflicted injuries. Early diagnosis and treatment are important due to the risk of poor visual prognosis. Management of CCA should aim for the prevention of epithelial defects and is a life-long process.

  13. Adults with Congenital Heart Defects

    Science.gov (United States)

    ... Disease Venous Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Aug 29,2017 ... the list below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with ...

  14. Congenital and infantile cataract: aetiology and management.

    Science.gov (United States)

    Chan, Wai H; Biswas, Susmito; Ashworth, Jane L; Lloyd, I Christopher

    2012-04-01

    Congenital cataract is the commonest worldwide cause of lifelong visual loss in children. Although congenital cataracts have a diverse aetiology, in many children, a cause is not identified; however, autosomal dominant inheritance is commonly seen. Early diagnosis either on the post-natal ward or in the community is important because appropriate intervention can result in good levels of visual function. However, visual outcome is largely dependent on the timing of surgery when dense cataracts are present. Good outcomes have been reported in children undergoing surgery before 6 weeks of age in children with unilateral cataract and before 10 weeks of age in bilateral cases. Placement of an artificial intraocular lens implant after removal of the cataract has become established practice in children over 2 years of age. There remains debate over the safety and predictability of intraocular lens implantation in infants. Despite early surgery and aggressive optical rehabilitation, children may still develop deprivation amblyopia, nystagmus, strabismus, and glaucoma. The diagnosis and management of congenital cataracts has improved substantially over the past 30 years with a concurrent improvement in outcomes for affected children. Many aspects of the pre-, intra-, and postoperative management of these patients continue to be refined, highlighting the need for good quality data and prospective collaborative studies in this field.

  15. Congenital granular cell epulis of a newborn

    Directory of Open Access Journals (Sweden)

    Kshitij O Bang

    2012-01-01

    Full Text Available The congenital granular cell epulis (CGCE is a rare tumor, which is apparent at birth. The histogenesis is still uncertain, but several theories, including origin from epithelial, undifferentiated mesenchymal cells, pericytes, fibroblasts, smooth muscle cells, and nerve-related cells have been proposed. This case report describes management of a 2-day-old baby girl having a large, round, soft, single 3 × 4 cm, pedunculated swelling, on the lower anterior ridge, which was causing difficulty in feeding. Clinical diagnosis of congenital epulis (CE was made and lesion was excised under conscious sedation. A vessel running over the surface of the lesion was continuous on the alveolar ridge. To reduce intra-operative hemorrhage transfixion suture was passed around the vessel on the alveolar ridge. Then the lesion was excised from the base of peduncle with a scalpel. Histopathologically, the diagnosis of a congenital granular cell lesion of the jaw was given. Follow up of 3 months shows no signs of recurrence. CGCE may interfere with feeding, requiring a conservative excision as soon as the child is fit to undergo surgery. Tendency for recurrence and malignant transformation has not been documented.

  16. 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.

  17. 小儿先天性肺不发育和发育不良的X线诊断(附13例X线分析)%An Analyses of X-ray Diagnosis of 13 Cases of Congenital Pulmonary Agenesis and Hypoplasia in Children

    Institute of Scientific and Technical Information of China (English)

    陈豹; 顾海滨; 赵晨

    2001-01-01

    Objective:To evaluate the efficacy of imaging diagnisis of congenital pulmonary agenesis and hypoplasia in children.Methods:The 13 cases of congenital pulmonary agenesis and hypoplasia were veritfied by bronchcscopy and operation or pathology the characteristics of the X-ray,CT and bronchography were analysed.Results:the X-ray features included:(1)capacity decreased and density increased of diseased lung;(2)small hilar pulmonis;(3)mediastinum shifted to the affected side.Conclusion:Radiography is a good procedure in diagnosis of the most cases of congenital pulmonary agenesis and hypoplasia.%目的:评价X线检查对小儿先天性肺不发育和发育不良的诊断作用。方法:对13例先天性肺不发育和发育不良经支气管镜检、手术或病理证实的X线平片、CT扫描、支气管造影分析其影像学表现。结果:本病X线检查的影像特征为:(1)患肺容积小、密度增高;(2)小肺门;(3)纵隔移向患侧。结论:X线检查对先天性肺不发育和发育不良是一很好的诊断方法。

  18. 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. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Congenital right hemidiaphragmatic agenesis

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  20. Congenital right hemidiaphragmatic agenesis.

    Science.gov (United States)

    Mirza, Bilal; Bashir, Zahid; Sheikh, Afzal

    2012-01-01

    Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  1. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft;

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  2. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  3. Congenital cystic neck masses: embryology and imaging appearances, with clinicopathological correlation.

    Science.gov (United States)

    Gaddikeri, Santhosh; Vattoth, Surjith; Gaddikeri, Ramya S; Stuart, Royal; Harrison, Keith; Young, Daniel; Bhargava, Puneet

    2014-01-01

    Congenital cystic masses of the neck are uncommon and can present in any age group. Diagnosis of these lesions can be sometimes challenging. Many of these have characteristic locations and imaging findings. The most common of all congenital cystic neck masses is the thyroglossal duct cyst. The other congenital cystic neck masses are branchial cleft cyst, cystic hygroma (lymphangioma), cervical thymic and bronchogenic cysts, and the floor of the mouth lesions including dermoid and epidermoid cysts. In this review, we illustrate the common congenital cystic neck masses including embryology, clinical findings, imaging features, and histopathological findings.

  4. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  5. Congenital Toxoplasmosis: A Review.

    Science.gov (United States)

    Hampton, Marissa Martinez

    2015-01-01

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

  6. 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.

  7. 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.

  8. 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.

  9. Congenital mandibular epulis – A rare oral lesion in a newborn

    Directory of Open Access Journals (Sweden)

    Nurhani Yasmin Abdul Rahman

    2015-11-01

    Conclusion: Even though it is a rare case, congenital epulis should be considered as one of differential diagnosis of an oral mass. A multi-disciplinary team management is important in view of possibility of upper airway obstruction post delivery.

  10. Imaging techniques for visualizing and phenotyping congenital heart defects in murine models.

    Science.gov (United States)

    Liu, Xiaoqin; Tobita, Kimimasa; Francis, Richard J B; Lo, Cecilia W

    2013-06-01

    Mouse model is ideal for investigating the genetic and developmental etiology of congenital heart disease. However, cardiovascular phenotyping for the precise diagnosis of structural heart defects in mice remain challenging. With rapid advances in imaging techniques, there are now high throughput phenotyping tools available for the diagnosis of structural heart defects. In this review, we discuss the efficacy of four different imaging modalities for congenital heart disease diagnosis in fetal/neonatal mice, including noninvasive fetal echocardiography, micro-computed tomography (micro-CT), micro-magnetic resonance imaging (micro-MRI), and episcopic fluorescence image capture (EFIC) histopathology. The experience we have gained in the use of these imaging modalities in a large-scale mouse mutagenesis screen have validated their efficacy for congenital heart defect diagnosis in the tiny hearts of fetal and newborn mice. These cutting edge phenotyping tools will be invaluable for furthering our understanding of the developmental etiology of congenital heart disease.

  11. 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.

  12. 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.

  13. Congenital osteofibrous dysplasia Campanacci: spontaneous postbioptic regression.

    Science.gov (United States)

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

    2014-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Sang Yun Hwang

    2015-01-01

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

  15. Congenital malignant melanoma: a case report with cytogenetic studies.

    Science.gov (United States)

    Singh, Krishna; Moore, Stephen; Sandoval, Marina; Balzer, Bonnie; Frishberg, David; Lewin, Sheryl; Schreck, Rhona; Raffel, Leslie

    2013-12-01

    Although rare, congenital malignant melanoma (CMM) should be considered in the differential diagnosis of congenital skin lesions. We report a case of CMM in a 4-month-old infant presenting with an enlarging scalp mass, initially thought to be a hemangioma. Incisional biopsy of the lesion showed a compound congenital nevus with atypical cells suggestive of a proliferative nodule versus malignancy on histopathology. Subsequent excisional biopsy revealed malignant melanoma, and further workup confirmed extensive disease with distant metastases. Cytogenetic analysis of both the tumor sites showed highly abnormal karyotypes including pseudotetraploidy, telomere associations, and evidence of gene amplification, all consistent with malignancy. Fluorescence in situ hybridization demonstrated amplification of the MYC gene, with no copy number changes in CDKN2A (INK4/ARF), PTEN, or Cyclin D1. Our report details the cytogenetic and molecular studies of CMM, which provide insight into the biologic behavior of the lesions and may confirm diagnosis when histopathology is not determinant.

  16. Frequency of the Congenital Transmission of Trypanosoma cruzi: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Howard, Elizabeth J.; Xiong, Xu; Carlier, Yves; Sosa-Estani, Sergio; Buekens, Pierre

    2014-01-01

    Background Chagas disease is caused by the parasite Trypanosoma cruzi and endemic in much of Latin America. With increased globalization and immigration, it is a risk in any country due in part to congenital transmission. The frequency of congenital transmission is unclear. Objective To assess the frequency of congenital transmission of T. cruzi. Search Strategy PubMed, Journals@Ovid Full Text, EMBASE, CINAHL, Fuente Academica and BIREME databases were searched using seven search terms related to Chagas disease or Trypanosoma cruzi and congenital transmission. Selection Criteria The inclusion criteria were the following: Dutch, English, French, Portuguese or Spanish language; case report, case series or observational study; original data on congenital T. cruzi infection in humans; congenital infection rate reported or it could be derived. This systematic review included 13 case reports/series and 51 observational studies. Data Collection and Analysis Two investigators independently collected data on study characteristics, diagnosis and congenital infection rate. The principal summary measure – the congenital transmission rate – is defined as the number of congenitally infected infants divided by the number of infants born to infected mothers. A random effects model was utilized. Main Results The pooled congenital transmission rate was 4.7% (95% confidence interval: 3.9–5.6%). Endemic countries had a higher rate of congenital transmission compared to non-endemic (5.0% vs. 2.7%). Conclusions Congenital transmission of Chagas disease is a global problem. Overall risk of congenital infection in infants born to infected mothers is about 5%. The congenital mode of transmission requires targeted screening to prevent future cases of Chagas disease. PMID:23924273

  17. Congenital long QT syndrome in children

    Directory of Open Access Journals (Sweden)

    Cerović Ivana

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

  18. Diagnosis and Treatment by Laparoscopy for Congenital Duodenal Obstruction in Newborn Infants%腹腔镜诊治新生儿先天性十二指肠梗阻

    Institute of Scientific and Technical Information of China (English)

    耿娜; 李索林; 李英超; 时保军; 于增文; 马亚贞

    2011-01-01

    目的 评价腹腔镜诊断和治疗新生儿先天性十二指肠梗阻(CDO)的可行性和疗效.方法 回顾性分析2002年7月-2010年10月新生儿CDO患儿21例行腹腔镜手术的临床资料,腹腔镜下探查病因,并依据其病理类型予以相应手术矫治.结果 21例患儿均在腹腔镜下明确诊断,并顺利完成手术,肠旋转不良13例实施Ladd手术,十二指肠狭窄4例腔镜下纵行切开其前壁横行缝合,十二指肠闭锁2例和环状胰腺2例成功进行空肠十二指肠菱形吻合术.手术时间(73.0±21.3) min (45~135 min),除1例术后发生暂时性吻合口漏,给予禁食水及肠外营养处理自愈外,无术中并发症出现.术后上消化道造影检查吻合口通畅,术后7~12 d痊愈出院.随访(31.3±4.8)个月,患儿生长发育正常.仅1例术后2个月出现肠黏连梗阻,予手术松解治愈.结论 腹腔镜诊治新生儿CDO是一种安全有效的方法,具有创伤小、进食早、恢复快、美观等特点.但新生儿期腹腔镜手术对麻醉及围术期管理要求更高.%Objective To evaluate the feasibility and availability of laparoscopy in diagnosis and treatment for newborn infants with congenital duodenal obstruction(CDO). Methods Twenty - one neonates with CDO who underwent laparoscopic surgery were analyzed retrospectively from Jul. 2002 to Oct. 2010. Under the laparoscopic vision ,the cause of CDO was explored and the CDO was treated proportionally according to corresponding pathological types. Results All procedures were successfully performed and the etiology was identified. A standard Ladd's procedure was carried out in 13 newborns with intestinal nalrotation. Four cases with duodenal diaphragmatic stenosis underwent a partial excision of the diaphragm after vertical incision of the anterior part in the duodenum followed by a transverse suture. A diamond - shaped side - to - side duodenal anastomosis was completed in 2 cases of duodenal atresia and 2 cases of annular

  19. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  20. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses....

  1. Congenital Erythropoietic Porphyria (CEP)

    Science.gov (United States)

    ... gov Website: http://www2.niddk.nih.gov/ References JOURNAL ARTICLES Christiansen AL, Aagaard L, Krag A, Rasmussen ... homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic ... a Doctor Clinical Studies Porphyria featured Television and Other Media AIP ...

  2. Congenital cutis laxa

    Directory of Open Access Journals (Sweden)

    Pavithran K

    1992-01-01

    Full Text Available A case of congenital cutis laxa is reported in a male infant. Heavy wrinkles on the forehead, ectropion of the lower eyelids and sagging of the skin of the cheeks and chin gave the appearance of ar, old man. In spite of extensive skin involvement, the general health of the child remained unaffected.

  3. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

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

    2015-01-01

    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...

  4. 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

  5. Congenital contractural arachnodactyly.

    Science.gov (United States)

    Bjerkreim, I; Skogland, L B; Trygstad, O

    1976-06-01

    Five cases of congenital contractural arachnodactyly (CCA) are reported. Three belong to the one family. CCA has often been mistaken for Marfan's disease and arthrogrypois multiplex. Because CCA has a more favourable prognosis, it is very important to be able to recognize this syndrome.

  6. 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-

  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. 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

  9. Congenital anomalies of the pulmonary arteries: spectrum of findings on computed tomography.

    Science.gov (United States)

    Bueno, J; Flors, L; Mejía, M

    Congenital anomalies of the pulmonary arteries are uncommon. They can occur in isolation or in association with congenital heart defects. Isolated congenital anomalies remain undiscovered until they are reported as incidental findings on imaging tests, usually not until adolescence. We review the embryological development and normal anatomy of the pulmonary arteries as well as the spectrum of computed tomography findings for various congenital anomalies: unilateral interruption of the pulmonary artery, anomalous origin of the left pulmonary artery (pulmonary artery sling), idiopathic aneurysm of the pulmonary artery, and other anomalies associated with congenital heart defects. Congenital anomalies of the pulmonary arteries represent a diagnostic challenge for clinicians and radiologists. Computed tomography is useful for their diagnosis, and general radiologists need to be familiar with their imaging appearance because they are often discovered incidentally. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Congenital nasal piriform aperture stenosis with vestibular abnormality

    Energy Technology Data Exchange (ETDEWEB)

    Rajaram, Smitha; Raghavan, Ashok [Sheffield Children' s Hospital, Department of Paediatric Radiology, Sheffield (United Kingdom); Bateman, Neil [Sheffield Children' s Hospital, ENT Department, Sheffield (United Kingdom)

    2008-10-15

    We present a neonate with congenital nasal piriform aperture stenosis associated with an abnormal vestibular aperture. Radiological evaluation with CT is essential to confirm the diagnosis and delineate the anatomy for surgical planning. Extension of the scan field of view to include the petrous temporal bone is essential to identify associated abnormalities of the vestibule. (orig.)

  11. Non-congenital heart disease associated pediatric pulmonary arterial hypertension

    OpenAIRE

    Ivy, D D; Feinstein, J. A.; Humpl, T; Rosenzweig, E. B.

    2009-01-01

    Recognition of causes of pulmonary hypertension other than congenital heart disease is increasing in children. Diagnosis and treatment of any underlying cause of pulmonary hypertension is crucial for optimal management of pulmonary hypertension. This article discusses the available knowledge regarding several disorders associated with pulmonary hypertension in children: idiopathic pulmonary arterial hypertension (IPAH), pulmonary capillary hemangiomatosis, pulmonary veno-occlusive disease, he...

  12. Congenital Agenesis of the Left Lung: A Rare Case

    Directory of Open Access Journals (Sweden)

    Tülin Durgun Yetim

    2011-01-01

    Full Text Available Pulmonary agenesis is a rare congenital anomaly, the etiology of which is not clearly known. Other systemic comorbidities such as cardiovascular, gastrointestinal, musculoskeletal, and urogenital system anomalies can be observed in more than half of the patients. It is usually diagnosed during childhood. Diagnosis in adulthood is very rare. We present a case of pulmonary agenesis diagnosed in an adult.

  13. Bilateral congenital pseudoarthrosis of the clavicles in a newborn

    Science.gov (United States)

    Kalagiri, Ram R.; Hemingway, Martha; Beeram, Madhava R.

    2016-01-01

    Bilateral congenital pseudoarthrosis of the clavicles is extremely rare. We report a case of this entity presenting in the neonatal period. We highlight the importance of the differential diagnosis when clavicular fracture shows no evidence of healing or occurs bilaterally. PMID:27695169

  14. [Different congenital forms of Steinert's myopathy: contribution of EMG].

    Science.gov (United States)

    Parain, D; Senant, J; Tron, P; Reigner, R

    1984-04-01

    The study of two families with myotonic dystrophy enables us to recall the existence of two congenital forms: one severe form with important neonatal hypotonia and one mild form with talipes equinovarus and intellectual deficiency. In both forms EMG detection is very often of the myogenic type. It confirms the diagnosis of myopathic disorder.

  15. New non-renal congenital disorders associated with medullary sponge kidney (MSK) support the pathogenic role of GDNF and point to the diagnosis of MSK in recurrent stone formers.

    Science.gov (United States)

    Ria, Paolo; Fabris, Antonia; Dalla Gassa, Alessandra; Zaza, Gianluigi; Lupo, Antonio; Gambaro, Giovanni

    2016-08-29

    Medullary sponge kidney (MSK) is a congenital renal disorder. Its association with several developmental abnormalities in other organs hints at the likelihood of some shared step(s) in the embryogenesis of the kidney and other organs. It has been suggested that the REarranged during Transfection (RET) proto-oncogene and the Glial cell line-Derived Neurotrophic Factor (GDNF) gene are defective in patients with MSK, and both RET and GDNF are known to have a role in the development of the central nervous system, heart, and craniofacial skeleton. Among a cohort of 143 MSK patients being followed up for nephrolithiasis and chronic kidney disease at our institution, we found six with one or more associated non-renal anomalies: one patient probably has congenital hemihyperplasia and hypertrophic cardiomyopathy with adipose metaplasia and mitral valve prolapse; one has Marfan syndrome; and the other four have novel associations between MSK and nerve and skeleton abnormalities described here for the first time. The discovery of disorders involving the central nervous system, cardiovascular system and craniofacial skeleton in MSK patients supports the hypothesis of a genetic alteration on the RET-GDNF axis having a pivotal role in the pathogenesis of MSK, in a subset of patients at least. MSK seems more and more to be a systemic disease, and the identification of extrarenal developmental defects could be important in arousing the suspicion of MSK in recurrent stone formers.

  16. Pulmonary hypertension in children with congenital heart disease (PAH-CHD, PPHVD-CHD). Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.

    Science.gov (United States)

    Kozlik-Feldmann, Rainer; Hansmann, Georg; Bonnet, Damien; Schranz, Dietmar; Apitz, Christian; Michel-Behnke, Ina

    2016-05-01

    Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a complex disease that presents with a broad spectrum of morphological and haemodynamic findings of varying severity. Recently, the aspect of paediatric pulmonary hypertensive vascular disease (PPHVD) has been introduced to expand the understanding of the full spectrum of pulmonary hypertension and increased pulmonary vascular resistance. Evaluation and treatment of PAH-CHD/PPHVD-CHD can be divided into in different topics. First, defining criteria for operability and initiation of advanced therapies preoperatively and postoperatively is an unresolved issue. Second, management of Eisenmenger syndrome is still an important question, with recent evidence on the severity of the disease and a more rapidly progressive course than previously described. Third, the Fontan circulation with no subpulmonary ventricle requires a distinct discussion, definition and classification since even a mild rise in pulmonary vascular resistance may lead to the so-called failing Fontan situation. Patients with CHD and single-ventricle physiology (Fontan/total cavopulmonary anastomosis) require a particularly stepwise and individualised approach. This consensus statement is on the current evidence for the most accurate evaluation and treatment of increased pulmonary artery pressure and resistance, as well as ventricular dysfunction, in children with congenital heart defects, and provides according practical recommendations. To optimise preoperative and postoperative management in patients with PAH-CHD, diagnostic and treatment algorithms are provided.

  17. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene

    Science.gov (United States)

    Aguirre, Geoffrey K.; Butt, Omar H.; Datta, Ritobrato; Roman, Alejandro J.; Sumaroka, Alexander; Schwartz, Sharon B.; Cideciyan, Artur V.; Jacobson, Samuel G.

    2017-01-01

    Purpose To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA). Methods Six GUCY2D-LCA patients (ages 20–46) were studied with optical coherence tomography of the retina and multimodal magnetic resonance imaging (MRI) of the brain. Measurements from this group were compared to those obtained from populations of normally sighted controls and people with congenital blindness of a variety of causes. Results Patients with GUCY2D-LCA had preservation of the photoreceptors, ganglion cells, and nerve fiber layer. Despite this, visual function in these patients ranged from 20/160 acuity to no light perception, and functional MRI responses to light stimulation were attenuated and restricted. This severe visual impairment was reflected in substantial thickening of the gray matter layer of area V1, accompanied by an alteration of resting-state correlations within the occipital lobe, similar to a comparison group of congenitally blind people with structural damage to the retina. In contrast to the comparison blind population, however, the GUCY2D-LCA group had preservation of the size of the optic chiasm, and the fractional anisotropy of the optic radiations as measured with diffusion tensor imaging was also normal. Conclusions These results identify dissociable effects of blindness upon the visual pathway. Further, the relatively intact postgeniculate white matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of visual function with gene augmentation therapy.

  18. Postretinal Structure and Function in Severe Congenital Photoreceptor Blindness Caused by Mutations in the GUCY2D Gene.

    Science.gov (United States)

    Aguirre, Geoffrey K; Butt, Omar H; Datta, Ritobrato; Roman, Alejandro J; Sumaroka, Alexander; Schwartz, Sharon B; Cideciyan, Artur V; Jacobson, Samuel G

    2017-02-01

    To examine how severe congenital blindness resulting from mutations of the GUCY2D gene alters brain structure and function, and to relate these findings to the notable preservation of retinal architecture in this form of Leber congenital amaurosis (LCA). Six GUCY2D-LCA patients (ages 20-46) were studied with optical coherence tomography of the retina and multimodal magnetic resonance imaging (MRI) of the brain. Measurements from this group were compared to those obtained from populations of normally sighted controls and people with congenital blindness of a variety of causes. Patients with GUCY2D-LCA had preservation of the photoreceptors, ganglion cells, and nerve fiber layer. Despite this, visual function in these patients ranged from 20/160 acuity to no light perception, and functional MRI responses to light stimulation were attenuated and restricted. This severe visual impairment was reflected in substantial thickening of the gray matter layer of area V1, accompanied by an alteration of resting-state correlations within the occipital lobe, similar to a comparison group of congenitally blind people with structural damage to the retina. In contrast to the comparison blind population, however, the GUCY2D-LCA group had preservation of the size of the optic chiasm, and the fractional anisotropy of the optic radiations as measured with diffusion tensor imaging was also normal. These results identify dissociable effects of blindness upon the visual pathway. Further, the relatively intact postgeniculate white matter pathway in GUCY2D-LCA is encouraging for the prospect of recovery of visual function with gene augmentation therapy.

  19. Congenital Granular Cell Tumor – A Rare Entity

    Directory of Open Access Journals (Sweden)

    Monal Yuwanati

    2015-03-01

    Full Text Available Congenital granular cell tumor is a rare benign neoplastic growth affecting the gingival mucosa of neonates. Prenatal ultrasound diagnosis has recently come to focus and in spite of several reports on immune-histochemical and other advanced marker studies, the cause and origin of the lesion remains debatable till date. Review of literature on prenatal diagnosis and histopathology along with immunohistochemistry is discussed.

  20. Evaluation of swallowing in infants with congenital heart defect.

    Science.gov (United States)

    Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle

    2015-01-01

    Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.