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Sample records for well-defined congenital ichthyosis

  1. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

    DEFF Research Database (Denmark)

    Bygum, Anette; Westermark, Per; Brandrup, Flemming

    2008-01-01

    Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately aft...

  2. Vitamin D: A New Promising Therapy for Congenital Ichthyosis.

    Science.gov (United States)

    Sethuraman, Gomathy; Marwaha, Raman K; Challa, Apoorva; Yenamandra, Vamsi K; Ramakrishnan, Lakshmy; Thulkar, Sanjay; Sharma, Vinod K

    2016-01-01

    Severe vitamin D deficiency and rickets are highly prevalent among children with congenital ichthyosis. We report an incidental observation of a dramatic and excellent clinical response with regard to skin scaling and stiffness in children with congenital ichthyosis after short-term high-dose vitamin D supplementation that has not been previously described. Seven children with congenital ichthyosis (5 with autosomal recessive congenital ichthyosis; 2 with epidermolytic ichthyosis) and severe vitamin D deficiency (and/or rickets) were given 60,000 IU of oral cholecalciferol daily for 10 days under supervision. All children were subsequently put on recommended daily allowance of 400 to 600 IU of cholecalciferol. The main outcome measures observed and studied were reduction in skin scaling and stiffness of the extremities. All cases had severe vitamin D deficiency (serum 25-hydroxyvitamin D children. Supplementation with high-dose vitamin D followed by recommended daily allowance appears to be an effective form of therapy in the management of congenital ichthyosis with vitamin D deficiency. Copyright © 2016 by the American Academy of Pediatrics.

  3. Congenital Ichthyosis in a Nigerian preterm neonate: A case report ...

    African Journals Online (AJOL)

    Congenital ichthyoses are relatively uncommon skin disorder s wi th worldwide occurrence. The ichthyoses are heterogenous disorders of keratinisation characterised by scaling of the skin of varying severity. This report describes a case of congenital ichthyosis in a preterm, male Hausa infant which happened to be the first ...

  4. Ichthyin (NIPAL4-autosomal recessive congenital ichthyosis with atopic diathesis: Case report and literature review

    Directory of Open Access Journals (Sweden)

    Yousef Binamer

    2016-01-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI, is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4 gene mutation is identified in about 18% of cases. In addition to the usual ichthyosis phenotype we are presenting a new association between ARCI and atopic diathesis with multiple allergies. To the best of our knowledge this is the second case to report such an association between ARCI and atopic diathesis.

  5. More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities.

    Science.gov (United States)

    Small, Katherine; Ginsburg, Howard; Greco, M Alba; Sarita-Reyes, Carmen; Kupchik, Gabriel; Blei, Francine

    2008-01-01

    Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.

  6. Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

    Science.gov (United States)

    Torkamani, Niloufar; Phal, Pramit; Savarirayan, Ravi; Simm, Peter; Varigos, George; Wark, John

    2016-01-01

    Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma. Lamellar ichthyosis, which is inherited in an autosomal recessive pattern, shows genetic heterogeneity with the most severe type being due to mutations in the transglutaminase-1 gene. This condition presents with skin changes at birth and cases are referred to as collodion babies. Initially, the stratum corneum is smooth and appears as though it is covered with cellophane. This layer is discarded a few days after birth, leaving a generalized inflamed and scaly appearance. The skin is tight at this stage and may cause ectropion, and difficulties in feeding and temperature regulation. Lamellar ichthyosis is characterized by plate-like scales that last for life and can significantly impact the patient's quality of life (2). We report here a case of multiple extraspinal hyperostoses concomitant with marked osteoporosis and vitamin D deficiency in a patient taking acitretin for 20 years due to severe congenital lamellar ichthyosis.

  7. Identification of Mutations in SDR9C7 in 6 Families with Autosomal Recessive Congenital Ichthyosis

    DEFF Research Database (Denmark)

    Hotz, A; Fagerberg, C; Vahlquist, A

    2017-01-01

    Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization. To date, ARCI has been associated with following genes: ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, NIPAL4, TGM1, PNPLA1 and recently SDR9C7 and SULT2B1.(1-6) Furthermore, seven patients from...... patients who carried five previously unreported mutations in SDR9C7. This article is protected by copyright. All rights reserved....

  8. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

    DEFF Research Database (Denmark)

    Hellström Pigg, Maritta; Bygum, Anette; Gånemo, Agneta

    2016-01-01

    -100%). A scoring (0-4) of ichthyosis/ery-thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27...... ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth......, a collodion membrane or similar severe hyperkeratosis was reported in almost all patients with HI and LI, and in nearly half of patients with CIE and PI. Persistent ectropion was more common in HI (85%) and LI (57%), than in CIE (35%) and PI (5%). Anhidrosis was a frequent problem in all 4 groups (58...

  9. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

    OpenAIRE

    Casal, Margret L.; Wang, Ping; Mauldin, Elizabeth A.; Lin, Gloria; Henthorn, Paula S.

    2017-01-01

    Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del), the 157th base (cytosine) in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshif...

  10. THE CASE OF HERPETIC ECZEMA IN A CHILD WITH CONGENITAL ICHTHYOSIS AND ATOPIC DERMATITIS

    Directory of Open Access Journals (Sweden)

    A. S. Stadnikova

    2017-01-01

    Full Text Available The case of the development of herpetic eczema (Kaposi's eczema is presented against the background of congenital ichthyosis and atopic dermatitis. It has been shown that the presence of atopic diseases such as allergic rhinitis and pollinosis, sensitization to many common allergens, and a positive family history of atopic dermatitis are factors of a more severe course of Kaposi's eczema. The presented clinical observation of the child with Kaposi's eczema showed that early diagnosis and timely initiated complex  therapy are the determining factors of a favorable prognosis of the disease.

  11. Congenital Ichthyosis in a Nigerian preterm neonate: A case report ...

    African Journals Online (AJOL)

    2016-01-12

    Jan 12, 2016 ... stringent thermoregulation, optimal hydration, use of topical emollient and antibiotics. Although, the skin disorder resolved within fifteen days of ... anicteric, acrocyanosed, cold (35.9oc) but not. Introduction. Congenital Ichthyoses are a rare heterogenous group of skin disorders characterized by excessive ...

  12. A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs.

    Directory of Open Access Journals (Sweden)

    Margret L Casal

    Full Text Available Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single base deletion (CanFam3.1 canine reference genome sequence NC_06586.3 g.52737379del, the 157th base (cytosine in exon 6 of NIPAL4 as the most likely causative variant in affected dogs. This frameshift deletion results in a premature stop codon producing a truncated and defective NIPAL4 (ichthyin protein of 248 amino acids instead of the wild-type length of 404. Obligate carriers were confirmed to be heterozygous for this variant, and 150 clinically non-affected dogs of other breeds were homozygous for the wild-type gene. Among 800 American bulldogs tested, 34% of clinically healthy dogs were discovered to be heterozygous for the defective allele. More importantly, the development of this canine model of autosomal recessive congenital ichthyosis will provide insight into the development of new treatments across species.

  13. A systematic review of clinical trials of treatments for the congenital ichthyoses, excluding ichthyosis vulgaris.

    Science.gov (United States)

    Hernández-Martin, Angela; Aranegui, Beatriz; Martin-Santiago, Ana; Garcia-Doval, Ignacio

    2013-10-01

    The ichthyoses comprise a group of inherited disorders of keratinization. Because of the need for lifelong treatment, it is important that therapies are beneficial, safe, and well tolerated. We sought to review the evidence on existing treatments for the congenital ichthyoses, excluding ichthyosis vulgaris. We undertook a systematic review using the methodology of the Cochrane Collaboration. Articles published in MEDLINE, EMBASE, and CENTRAL and registered clinical trials were screened. Randomized controlled trials involving patients with the inherited ichthyoses, either syndromic or nonsyndromic but excluding ichthyosis vulgaris, were considered. Six trials met the inclusion criteria. Topical treatments including 5% urea, 20% propylene glycol alone or in combination with 5% lactic acid, calcipotriol ointment, and liarozole 5% cream showed therapeutic benefit. Oral liarozole, a retinoic acid metabolism blocking agent, showed no advantage over oral acitretin. Most studies were performed on a small sample of patients and lacked methodological and reporting quality. The small number of trials and the nearly constant positive results make publication bias likely. The absence of standardization of outcome measures precluded the comparison of studies. Topical treatments including emollients, calcipotriol ointment, and liarozole cream seem to have therapeutic benefit and a good safety profile, although the use of topical calcipotriol is limited by a maximum weekly dose of 100 g. The advantage of oral liarozole over acitretin is uncertain. Multicenter trials comparing oral and topical interventions and evaluation of long-term outcomes are needed. Copyright © 2013 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  14. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

    Directory of Open Access Journals (Sweden)

    Franz P W Radner

    2013-06-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3 and abolishes a sequence for a long non-coding RNA (FLJ42289. Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3 and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

  15. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

    Science.gov (United States)

    Ullah, Rahim; Ansar, Muhammad; Durrani, Zaka Ullah; Lee, Kwanghyuk; Santos-Cortez, Regie Lyn P.; Muhammad, Dost; Ali, Mahboob; Zia, Muhammad; Ayub, Muhammad; Khan, Suliman; Smith, Josh D.; Nickerson, Deborah A.; Shendure, Jay; Bamshad, Michael; Leal, Suzanne M.; Ahmad, Wasim

    2016-01-01

    Background Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. Methods The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method. Results Genome-wide linkage analysis established linkage in family A to TGM1 gene on chromosome 14q11 and in families B and C to ALOXE3 gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in TGM1 (family A); a nonsense variant p.Arg140* in ALOXE3 (family B); and a complex rearrangement in ALOXE3 (family C). Conclusion The present study further extends the spectrum of mutations in the two genes involved in causing ARCI. Characterizing the clinical spectrum resulting from mutations in the TGM1 and ALOXE3 genes will improve diagnosis and may direct clinical care of the family members. PMID:26578203

  16. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.

    Science.gov (United States)

    Heinz, Lisa; Kim, Gwang-Jin; Marrakchi, Slaheddine; Christiansen, Julie; Turki, Hamida; Rauschendorf, Marc-Alexander; Lathrop, Mark; Hausser, Ingrid; Zimmer, Andreas D; Fischer, Judith

    2017-06-01

    Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for ARCI have been discovered to date. Using whole-exome sequencing (WES) and multigene panel screening, we identified 6 ARCI-affected individuals from three unrelated families with mutations in Sulfotransferase family 2B member 1 (SULT2B1), showing their causative association with ARCI. Cytosolic sulfotransferases form a large family of enzymes that are involved in the synthesis and metabolism of several steroids in humans. We identified four distinct mutations including missense, nonsense, and splice site mutations. We demonstrated the loss of SULT2B1 expression at RNA and protein levels in keratinocytes from individuals with ARCI by functional analyses. Furthermore, we succeeded in reconstructing the morphologic skin alterations in a 3D organotypic tissue culture model with SULT2B1-deficient keratinocytes and fibroblasts. By thin layer chromatography (TLC) of extracts from these organotypic cultures, we could show the absence of cholesterol sulfate, the metabolite of SULT2B1, and an increased level of cholesterol, indicating a disturbed cholesterol metabolism of the skin upon loss-of-function mutation in SULT2B1. In conclusion, our study reveals an essential role for SULT2B1 in the proper development of healthy human skin. Mutation in SULT2B1 leads to an ARCI phenotype via increased proliferation of human keratinocytes, thickening of epithelial layers, and altered epidermal cholesterol metabolism. Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  17. Inherited ichthyosis: Non-syndromic forms.

    Science.gov (United States)

    Takeichi, Takuya; Akiyama, Masashi

    2016-03-01

    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Non-syndromic ichthyoses are characterized by the phenotypic expression of the disorder being seen only in the skin. Non-syndromic ichthyoses include ichthyosis vulgaris, recessive X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. This review focuses on updates for each type of non-syndromic ichthyosis, highlighting molecular mechanisms and phenotype/genotype correlations. Included in autosomal recessive congenital ichthyosis are three of the major phenotypes (harlequin ichthyosis, lamellar ichthyosis and congenital ichthyosiform erythroderma) and three of the minor subtypes (self-healing collodion baby, acral self-healing collodion baby and bathing suit ichthyosis). Keratinopathic ichthyosis is proposed as an umbrella term for ichthyoses caused by mutations in keratin genes. Next-generation sequencing technologies have become powerful tools for the diagnosis of inherited ichthyoses and the discovery of their genetic causes. This article reviews the current understanding of molecular pathomechanisms for non-syndromic ichthyoses and explores future perspectives. © 2016 Japanese Dermatological Association.

  18. Ichthyosis vulgaris

    DEFF Research Database (Denmark)

    Thyssen, J P; Godoy-Gijon, E; Elias, P M

    2013-01-01

    Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented in this r......Ichthyosis vulgaris is caused by loss-of-function mutations in the filaggrin gene (FLG) and is characterized clinically by xerosis, scaling, keratosis pilaris, palmar and plantar hyperlinearity, and a strong association with atopic disorders. According to the published studies presented...... or irritants. Moreover, with our current knowledge, individuals with ichthyosis vulgaris should be protected against neonatal exposure to cats to prevent atopic dermatitis and should abstain from smoking to prevent asthma. Finally, they should be advised against excessive exposure to factors that decrease skin...

  19. Ichthyosis: clinical manifestations and practical treatment options.

    Science.gov (United States)

    Oji, Vinzenz; Traupe, Heiko

    2009-01-01

    Ichthyoses constitute a large group of cornification disorders that affect the entire integument. The skin is characterized by visible scaling and in many cases by inflammation, for example, in bullous/keratinopathic ichthyosis or Netherton syndrome. From the viewpoint of classification it is useful to distinguish non-syndromic from syndromic types of ichthyosis. Ichthyosis vulgaris and recessive X-linked ichthyosis are common disorders - often of delayed onset, in contrast to congenital ichthyoses, which belong to the group of rare diseases and present at birth with either the features of collodion membrane or congenital ichthyosiform erythroderma. The diagnostic steps are based on clinical data, analyses such as the steroid sulfatase activity test, skin biopsies, and genetic results. However, the dramatic increase in knowledge about the pathophysiology of these conditions has not led to a curative therapy so far. The therapeutic management is multidisciplinary and involves ichthyosis patient organizations in many countries. The mainstay of treatment remains with moisturizing creams containing, for example, urea, lactic acid and other humectants and keratolytics, regular bathing, and mechanical scale removal. Patients with lamellar ichthyosis or ichthyosiform erythroderma in particular profit from oral therapy with retinoids or retinoic acid metabolism-blocking agents.

  20. Ichthyosis in the Neonatal Setting.

    Science.gov (United States)

    Ivich, Johanna M

    2015-08-01

    There exists a group of rare, inherited scaly skin disorders, generally termed ichthyosis, that can be evident in the infant at the time of birth. Phenotypes for this disorder span the gamut of severity and may pose complex challenges to the healthcare provider. This article explores the 3 most common nonsyndromic forms of ichthyosis seen in neonates as follows: X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma. Moreover, harlequin ichthyosis, a lamellar subtype, is highlighted for being the most severe, clinically problematic, and often lethal form of the disorder. A description of each of these types and their incidence is included, followed by an explanation of the genetic mutations causing them. The phenotypes and natural history are reviewed, as is expected management of the disorder throughout the patient's lifetime. Considerations for the neonatal nurse practitioner charged with caring for these patients, including specific recommendations for care in the clinical setting, are discussed. Additionally, genetic counseling and the risks of reoccurrence are explored. Given the rare nature of this disorder, further research is warranted so that healthcare providers are prepared to provide optimal care to these fragile patients.

  1. Refractory Trichophyton rubrum infection in lamellar ichthyosis.

    Science.gov (United States)

    Scheers, Christel; Andre, Josette; Thompson, Curtis; Rebuffat, Elisabeth; Harag, Saadia; Kolivras, Athanassios

    2013-01-01

    A 10-month-old boy with congenital lamellar ichthyosis presented with a chronic Trichophyton rubrum infection. There was no history of atopy or immunosuppression, and examination revealed high total immunoglobulin E (IgE) with a positive specific IgE for T. rubrum. Multiple treatments with fluconazole were necessary to control the infection. T. rubrum is present worldwide and is responsible for the vast majority of chronic dermatophytosis. Lamellar ichthyosis is a risk factor for chronic dermatophytosis because of excessive keratin and the barrier defect. A delayed-type hypersensitivity reaction to T. rubrum is associated with cure, whereas immediate hypersensitivity and IgE are not protective and may lead to chronic infection. Atopy and the Th2 profile therefore seem to be associated with chronic dermatophytosis. The association between ichthyosis and atopy is well documented. T. rubrum also has an interesting ability to evade immunity, which helps explain the chronic infection. Finally, in ichthyosis, it is likely that fluconazole has difficulty penetrating the acanthotic stratum corneum, which explains treatment failure. We report this case to alert clinicians to the possible association between lamellar ichthyosis and chronic dermatophytosis and to report the difficulties of management. © 2013 Wiley Periodicals, Inc.

  2. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

    NARCIS (Netherlands)

    Bolling, M. C.; Bladergroen, R. S.; van Steensel, M. A. M.; Willemsen, M.; Jonkman, M. F.; van Geel, M.

    P>Background Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins 1 and 10. Classical EI is clinically

  3. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

    Science.gov (United States)

    Hotz, Alrun; Oji, Vinzenz; Bourrat, Emmanuelle; Jonca, Nathalie; Mazereeuw-Hautier, Juliette; Betz, Regina C; Blume-Peytavi, Ulrike; Stieler, Karola; Morice-Picard, Fanny; Schönbuchner, Ines; Markus, Susanne; Schlipf, Nina; Fischer, Judith

    2016-05-01

    Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied. Epidermolytic ichthyosis is caused by mutations in the genes KRT1 or KRT10, mutations in the gene KRT2 lead to superficial epidermolytic ichthyosis, and congenital reticular ichthyosiform erythroderma is caused by frameshift mutations in the genes KRT10 or KRT1, which lead to the phenomenon of revertant mosaicism. In this study mutations were found in KRT1, KRT2 and KRT10, including 8 mutations that are novel pathogenic variants. We report here the first case of a patient with congenital reticular ichthyosiform erythroderma carrying a mutation in KRT10 that does not lead to an arginine-rich reading frame. Novel clinical features found in patients with congenital reticular ichthyosiform erythroderma are described, such as mental retardation, spasticity, facial dysmorphisms, symblepharon and malposition of the 4th toe.

  4. PREPARATION OF CHEMICALLY WELL-DEFINED CARBOHYDRATE DENDRIMER CONJUGATES

    DEFF Research Database (Denmark)

    2004-01-01

    A method for the synthesis of dendrimer conjugates having a well-defined chemical structure, comprising one or more carbohydrate moieties and one or more immunomodulating substances coupled to a dendrimer, is presented. First, the carbohydrate is bound to the dendrimer in a chemoselective manner....... Subsequently, the immunomodulating substance is also bound in a chemoselective manner, to give a dendrimer conjugate with a well-defined structure and connectivity and containing a precise, pre-determined ratio of carbohydrate to immunomodulating substance. The invention also relates to novel dendrimer...

  5. Well-defined transition metal hydrides in catalytic isomerizations.

    Science.gov (United States)

    Larionov, Evgeny; Li, Houhua; Mazet, Clément

    2014-09-07

    This Feature Article intends to provide an overview of a variety of catalytic isomerization reactions that have been performed using well-defined transition metal hydride precatalysts. A particular emphasis is placed on the underlying mechanistic features of the transformations discussed. These have been categorized depending upon the nature of the substrate and in most cases discussed following a chronological order.

  6. Well-defined side-chain liquid-crystalline polysiloxanes

    NARCIS (Netherlands)

    Hempenius, Mark A.; Lammertink, Rob G.H.; Vancso, Gyula J.

    1996-01-01

    A route to well-defined side-chain liquid-crystalline polysiloxanes (ratio of weight-to number-average molar masses Mw/Mn < 1.2 is reported. Anionic ring-opening polymerization of pentamethylvinylcyclotrisiloxane yielded a poly(dimethylsiloxane-co-methylvinylsiloxane) backbone. A flexible disiloxane

  7. A generic synthesis algorithm for well-defined parametric design

    NARCIS (Netherlands)

    Schotborgh, W.O.; Kokkeler, Frans; Tragter, Hendrik; Bomhoff, M.J.; van Houten, Frederikus J.A.M.; van Houten, F.J.A.M.; Miedema, J.; Lutters, D.

    2008-01-01

    This paper aims to improve the way synthesis tools can be built by formalizing: 1) the design artefact, 2) related knowledge and 3) an algorithm to generate solutions. This paper focuses on well-defined parametric engineering design, ranging from machine elements to industrial products. A design

  8. Presentación de un caso de hemidisplasia congénita con ictiosis eritrodérmica Report of a congenital hemidysplasia with erythrodermic ichthyosis

    Directory of Open Access Journals (Sweden)

    Andrés A. Morilla Guzmán

    2008-09-01

    Full Text Available La hemidisplasia congénita con ictiosis y defectos de las extremidades es una enfermedad infrecuente, hereditaria, monogénica, que se transmite como un rasgo dominante ligado al cromosoma X. Se presenta el caso de una paciente con este diagnóstico clínico neonatal, que presentaba eritrodermia ictiosiforme en el hemicuerpo derecho, acompañada de hipomelia del miembro superior e inferior derechos, defectos óseos en miembros afectados y columna vertebral, agenesia renal unilateral, cardiopatía congénita de tipo comunicación interventricular conoventricular y arteria umbilical única. Se realizaron las interconsultas necesarias, estudios sonográficos y radiológicos para completar el diagnóstico y se ofreció asesoramiento genético y seguimiento del caso según las complicaciones reportadas en la literatura médica y los hallazgos clínicos de la paciente.Congenital hemidysplasia with icthyosis and limb defects is a hereditary, monogenic and infrequent disease transmitted as a dominant trait linked to the X chromosome. The case of a female patient with this neonatal clinical diagnosis showing ichthyosiform erythroderma on the right hemibody, accompanied with hypomelia of the right upper and lower limbs, bone defects in the affected limbs and spinal column, unilateral renal agenesia, congenital heart disease with inter- and conoventricular communication, and a unique umbilical artery was reported. The necessary inter-consultations were arranged and sonographic and radiological studies were conducted to complete the diagnosis. Genetic counselling was given and the case was followed up according to the complications reported in medical literature, and to the clinical findings of the patient.

  9. Genetics Home Reference: harlequin ichthyosis

    Science.gov (United States)

    ... Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov;126(11):2408-13. Epub 2006 Aug 10. ... Features What are genome editing and CRISPR-Cas9? What is direct-to-consumer ...

  10. Well-defined (co)polypeptides bearing pendant alkyne groups

    KAUST Repository

    Zhao, Wei

    2016-03-18

    A novel metal-free strategy, using hydrogen-bonding catalytic ring opening polymerization of acetylene-functionalized N-carboxy anhydrites of α-amino acids, was developed for the synthesis of well-defined polypeptides bearing pendant alkyne groups. This method provides an efficient way to synthesize novel alkyne-functionalized homopolypeptides (A) and copolypeptides, such as AB diblock (B: non-functionalized), ABA triblock and star-AB diblock, as well as linear and star random copolypeptides, precursors of a plethora complex macromolecular architectures by click chemistry.

  11. Epidermolytic Ichthyosis Sine Epidermolysis.

    Science.gov (United States)

    Eskin-Schwartz, Marina; Drozhdina, Marianna; Sarig, Ofer; Gat, Andrea; Jackman, Tomer; Isakov, Ofer; Shomron, Noam; Samuelov, Liat; Malchin, Natalia; Peled, Alon; Vodo, Dan; Hovnanian, Alain; Ruzicka, Thomas; Koshkin, Sergei; Harmon, Robert M; Koetsier, Jennifer L; Green, Kathleen J; Paller, Amy S; Sprecher, Eli

    2017-06-01

    Epidermolytic ichthyosis (EI) is a rare disorder of cornification caused by mutations in KRT1 and KRT10, encoding two suprabasal epidermal keratins. Because of the variable clinical features and severity of the disease, histopathology is often required to correctly direct the molecular analysis. EI is characterized by hyperkeratosis and vacuolar degeneration of the upper epidermis, also known as epidermolytic hyperkeratosis, hence the name of the disease. In the current report, the authors describe members of 2 families presenting with clinical features consistent with EI. The patients were shown to carry classical mutations in KRT1 or KRT10, but did not display epidermolytic changes on histology. These observations underscore the need to remain aware of the limitations of pathological features when considering a diagnosis of EI.

  12. Blau syndrome presenting with ichthyosis.

    Science.gov (United States)

    Masel, Grant; Halbert, Anne

    2005-02-01

    A 12-year-old girl presented with uveitis, joint disease and ichthyosis resembling ichthyosis vulgaris. A biopsy taken from the affected lower leg demonstrated sarcoidal-type granulomas. Synovial biopsy from the knee also showed granulomas. There was a family history of similar clinical features in the patient's younger sister. There were no other systemic features present to suggest a diagnosis of sarcoidosis or other granulomatous disease such as Crohn's disease or tuberculosis. The familial nature of the condition also made these diagnoses less likely. A clinical diagnosis of Blau syndrome was made. Blau syndrome is an uncommon sarcoidosis-like multisystem autosomal-dominant granulomatous disorder caused by mutations in the CARD15 gene. This gene has also recently been found to be a factor in the development of psoriatic arthritis and Crohn's disease. Although many forms of skin involvement have been described in Blau syndrome, this is the first case described of ichthyosis as the primary skin manifestation.

  13. Supramolecular Diblock Copolymers Featuring Well-defined Telechelic Building Blocks.

    Science.gov (United States)

    Elacqua, Elizabeth; Croom, Anna; Manning, Kylie B; Pomarico, Scott K; Lye, Diane; Young, Lauren; Weck, Marcus

    2016-12-19

    We report supramolecular AB diblock copolymers comprised of well-defined telechelic building blocks. Helical motifs, formed via reversible addition-fragmentation chain-transfer (RAFT) or anionic polymerization, are assembled with coil-forming and sheet-featuring blocks obtained via atom-transfer radical polymerization (ATRP) or ring-opening metathesis polymerization (ROMP). Interpolymer hydrogen bonding or metal-coordination achieves dynamic diblock architectures featuring hybrid topologies of coils, helices, and/or π-stacked sheets that, on a basic level, mimic protein structural motifs in fully synthetic systems. The intrinsic properties of each block (e.g., circular dichroism and fluorescence) remain unaffected in the wake of self-assembly. This strategy to develop complex synthetic polymer scaffolds from functional building blocks is significant in a field striving to produce architectures reminiscent of biosynthesis, yet fully synthetic in nature. This is the first plug-and-play approach to fabricate hybrid π-sheet/helix, π-sheet/coil, and helix/coil architectures via directional self-assembly. © 2016 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.

    Science.gov (United States)

    Jeong, Haneol S; Funari, Tara; Gordon, Katherine; Richard, Gabriele; Agim, Nnenna G

    2017-09-01

    We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c.439C>T (p.R147C) in conjunction with a single nonsense mutation in the FLG gene (p.R501X) in both sisters. These individuals highlight the clinical variability of Conradi-Hunermann-Happle syndrome, illustrate the possibility of co-occurrence of rare and common forms of ichthyosis, and demonstrate the utility of multigene analysis. © 2017 Wiley Periodicals, Inc.

  15. X-linked ichthyosis without STS deficiency: Clinical, genetical, and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Robledo, R.; Melis, P.; Schillinger, E.; Siniscalco, M. [Istituto di Genetica Molecolare del, Trieste (Italy)] [and others

    1995-11-06

    We report on a Sardinian pedigree with congenital ichthyosis associated with normal levels of steroid sulfatase and a normal molecular pattern, as detectable with a cDNA probe for the steroid sulfatase (STS) gene. Though the pattern of transmission of the disease is consistent with X-linked recessive inheritance, this form of ichthyosis was found to segregate independently of genetic polymorphisms detected by probes of the region Xp22.3, where the STS locus has been mapped. The search for close genetic linkages with other polymorphic markers scattered along the entire X chromosome has so far been fruitless. For the time being, the main conclusion derived from these data is that STS deficiency is not a sine qua non for X-linked ichthyosis which may also result from a mutational event at an X-chromosomal site genetically unlinked to the STS locus. 16 refs., 4 figs.

  16. Ichthyosis with confetti: clinics, molecular genetics and management.

    Science.gov (United States)

    Guerra, Liliana; Diociaiuti, Andrea; El Hachem, May; Castiglia, Daniele; Zambruno, Giovanna

    2015-09-17

    Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichthyosiform erythroderma or with a collodion baby picture. The erythrodermic and ichthyotic phenotype persists during life and its severity may modify. However, the hallmark of the disease is the appearance, in childhood or later in life, of healthy skin confetti-like spots, which increase in number and size with time. IWC is a very rare genodermatosis, with a prevalence KRT10 and KRT1 genes, encoding for keratins 10 and keratin 1, respectively. In this context, healthy skin confetti-like spots represent "repaired" skin due to independent events of reversion of keratin gene mutations via mitotic recombination. In most cases, IWC clinical suspicion is delayed until the detection of white skin spots. Clinical features, which may represent hint to the diagnosis of IWC even before appearance of confetti-like spots, include ear and mammillae hypoplasia, the progressive development of hypertrichosis and, in some patients, of adherent verrucous plaques of hyperkeratosis. Altogether the histopathological finding of keratinocyte vacuolization and the nuclear staining for keratin 10 and keratin 1 by immunofluorescence are pathognomonic. Nevertheless, mutational analysis of KRT10 or KRT1 genes is at present the gold standard to confirm the diagnosis. IWC has to be differentiated mainly from congenital ichthyosiform erythroderma. Differential diagnosis also includes syndromic ichthyoses, in particular Netherton syndrome, and the keratinopathic ichthyoses. Most of reported IWC cases are sporadic, but familial cases with autosomal dominant mode of inheritance have been also described. Therefore, knowledge of the mutation is the only way to properly counsel the couples. No specific and satisfactory therapy is currently available for IWC. Like for other congenital ichthyoses

  17. Genetics Home Reference: ichthyosis with confetti

    Science.gov (United States)

    ... AJ, Bree A, Milstone LM, Lifton RP. Mitotic recombination in patients with ichthyosis causes reversion of dominant ... 36-9. Review. Citation on PubMed More from Genetics Home Reference Bulletins Rare Disease Day 2018 Darwin ...

  18. X-linked recessive ichthyosis.

    Science.gov (United States)

    Hazan, Carole; Orlow, Seth J; Schaffer, Julie V

    2005-12-30

    A 13-year-old boy presented with a lifelong history of tightly-adherent, brown, polygonal scales that covered the extensor surfaces of the extremities, lateral aspects of the trunk, and neck. The clinical presentation and the history of a similar skin condition in the patient's male maternal relatives helped establish the diagnosis of X-linked recessive ichthyosis (XLI). Systemic manifestations of the steroid sulfatase (STS) deficiency underlying XLI include cryptorchidism, asymptomatic corneal opacities, and maternal failure to progress during labor. Most cases of XLI are caused by deletions of the STS gene, and contiguous gene syndromes may occur when the deletions extend to neighboring genes on the distal short arm of the X chromosome.

  19. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    DEFF Research Database (Denmark)

    Koppelhus, Uffe; Tranebjaerg, L; Esberg, G

    2011-01-01

    Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap junction protein connexin 26. The commonest mutation is the p.Asp50Asn mutation, and only a few other mutations have been described to date....

  20. Ichthyosis

    Science.gov (United States)

    ... Language Publications Portal en espanol Community Outreach Initiative Menu Menu Close Arthritis and Rheumatic Diseases Muscle and ... Media Moderation Policy FOIA Privacy Statement Accessibility Disclaimer Digital Strategy Open Source Data Public Data Listing NIH... ...

  1. [Hereditary ichthyosis in Tunisia: epidemiological study of 60 cases].

    Science.gov (United States)

    Kharfi, Monia; El Fekih, Nadia; Ammar, Donia; Khaled, Aida; Fazaa, Bécima; Ridha Kamoun, Mohamed

    2008-11-01

    Ichthyosis are a group of inherited keratinizing disorders. The cutaneous abnormalities may be isolated or associated with extra-cutaneous symptoms. To report the epidemiological and clinical profiles of patients with these genodermatoses from a hospital tunisian study. A retrospective study of all cases of ichthyosis referred during a period of 5 years to the department of dermatology of Charles Nicole's hospital of Tunis. Sixty cases of hereditary ichthyosis were seen. The sex-ratio was of 0.5. Parental consanguinity was noted in 36 patients (60%). Seventeen patients (25.7%) had a positive familial history of ichthyosis. The clinical form of ichthyosis was determined in 52 cases. The nonbullous ichthyosiform erythroderma was observed in 25 patients (41.6%). Sixty patients presented an ichthyosis vulgaris (26.6%). The other forms of ichthyosis were rarely observed : 4 cases of X-linked recessive ichthyosis, 2 cases of lamellar ichthyosis and 2 cases of bullous ichthyosiform erythroderma. Two patients were born with collodion-like membranes. Two cases presented a complex syndrome. The NBIE, commonly considered as a rare form of ichthyosis, was the most frequently form seen in our study (41.6%), probably because of the high frequency of consanguineous marriages in Tunisia. The IV represents the most frequent form reported in the literature and was observed in 25% of our patients. The classification of some ichthyosis associated with other extracutaneous abnormalities (found in 2 of our patients) remains difficult.

  2. Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

    DEFF Research Database (Denmark)

    Vahlquist, Anders; Bygum, Anette; Gånemo, Agneta

    2009-01-01

    Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding. However, some babies show a nearly normal underlying skin after several weeks, a phenotype called "self-healing...... collodion baby" (SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been implicated in the etiology of SHCB, but the full genotypic spectrum remains to be determined. DNA sequencing in 11 Swedish and 4 Danish SHCB patients showed ALOX12B mutations in eight cases, ALOXE3 mutations in three...

  3. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients

    DEFF Research Database (Denmark)

    Vahlquist, Anders; Bygum, Anette; Gånemo, Agneta

    2010-01-01

    Infants born with autosomal recessive congenital ichthyosis (ARCI) are often encapsulated in a collodion membrane, which shows a lamellar or erythrodermic type of ichthyosis upon shedding. However, some babies show a nearly normal underlying skin after several weeks, a phenotype called "self-healing...... collodion baby" (SHCB). Mutations in two genes, TGM1 and ALOX12B, have previously been implicated in the etiology of SHCB, but the full genotypic spectrum remains to be determined. DNA sequencing in 11 Swedish and 4 Danish SHCB patients showed ALOX12B mutations in eight cases, ALOXE3 mutations in three...

  4. Generalized and Naevoid Epidermolytic Ichthyosis in Denmark

    DEFF Research Database (Denmark)

    Bygum, Anette; Virtanen, Marie; Brandrup, Flemming

    2012-01-01

    families had mutations in K10. Nine patients had been treated with systemic retinoids (etretinate, acitretin, isotretinoin or alitretinoin), but only 3 patients had acceptable treatment responses and chose to continue therapy. In conclusion epidermolytic ichthyosis is a rare disease with a prevalence...

  5. [Ichthyosis and social stigma in Burkina Faso].

    Science.gov (United States)

    Korsaga/Somé, N; Salissou, L; Tapsoba, G P; Ouédraogo, M S; Traoré, F; Doulla, M; Barro/Traoré, F; Niamba, P; Traoré, A

    2016-01-01

    Through the story of two families presenting ichthyosis, we report the support and social integration difficulties inherent in these genetic diseases. Family No. 1: a 38-year-old shepherd and his wife of 25 years both had lamellar ichthyosis that had been present continually since childhood. They had had 2 stillborn infants as well as a live newborn that were all presenting lamellar ichthyosis. Family No. 2: a 45-year-old housewife was seen at our consultation with her 3 youngest children aged 8 years, 6 years and 18 months. According to the mother, at birth, all 3 children were covered with a membrane resembling plastic that crackled during movement, and they had red eyes. Examination of the 3 children revealed a clinical picture of lamellar ichthyosis with ectropion, malformed ears and brachydactyly. Although they presented delayed growth and weight development, psychomotor development was normal. There was no consanguinity between the parents. In both families, the visible nature of the dermatosis resulted in discrimination and ostracism. The precarious living conditions of the parents and the high cost of treatment in an African setting resulted in degradation of quality of life with exacerbation of the difficulties of social integration, resulting in a lack of schooling and a bleak future for these children. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. Progressive symmetric exfoliative ichthyosis | Al Aboud | Sudanese ...

    African Journals Online (AJOL)

    ... defined ichthyosiform patches on extremities. There is a history of similar condition in her cousin. We believe that this case represent a new autosomal recessive disorder of cornification that may be better refer to it as ''progressive symmetric exfoliative ichthyosis''. Sudanese Journal of Dermatology Vol. 3(3) 2005: 137-140 ...

  7. Efficient Construction of Well-Defined Multicompartment Porous Systems in a Modular and Chemically Orthogonal Fashion.

    Science.gov (United States)

    Gao, Ning; Tian, Tian; Cui, Jiecheng; Zhang, Wanlin; Yin, Xianpeng; Wang, Shiqiang; Ji, Jingwei; Li, Guangtao

    2017-03-27

    A microfluidic assembly approach was developed for efficiently producing hydrogel spheres with reactive multidomains that can be employed as an advantageous platform to create spherical porous networks in a facile manner with well-defined multicompartments and spatiotemporally controlled functions. This strategy allows for not only large scale fabrication of various robust hydrogel microspheres with controlled size and porosity, but also the domains embedded in hydrogel network could be introduced in a modular manner. Additionally, the number of different domains and their ratio could be widely variable on demand. More importantly, the reactive groups distributed in individual domains could be used as anchor sites to further incorporate functional units in an orthogonal fashion, leading to well-defined multicompartment systems. The strategy provides a new and efficient route to construct well-defined functional multicompartment systems with great flexibility and extendibility. © 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  8. One-pot synthesis of well-defined oligo- butadiynylene-naphthalene diimides.

    Science.gov (United States)

    Yue, Wan; Zhen, Yonggang; Li, Yan; Jiang, Wei; Lv, Aifeng; Wang, Zhaohui

    2010-08-06

    A homogeneous series of well-defined oligo-butadiynylene-NDIs containing up to five naphthalene diimides (NDIs) moieties have been efficiently synthesized in one pot by oxidative homocoupling of 1,6-di((trimethylsilyl)ethynyl)naphthalene diimides in good yields.

  9. [Hereditary ichthyosis: A diagnostic and therapeutic challenge].

    Science.gov (United States)

    Vega Almendra, Nadia; Aranibar Duran, Ligia

    2016-01-01

    Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. The diagnosis is mainly based on clinical features, since genetic studies are not available in our setting. Treatment is symptomatic and management should be performed by a multidisciplinary team. In this article, the diagnostic and therapeutic aspects of different types of ichthyosis are reviewed, taking into account the nomenclature and modifications presented in the new classification. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  10. Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.

    Science.gov (United States)

    Dalamón, Viviana Karina; Buonfiglio, Paula; Larralde, Margarita; Craig, Patricio; Lotersztein, Vanesa; Choate, Keith; Pallares, Norma; Diamante, Vicente; Elgoyhen, Ana Belén

    2016-05-04

    Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described. We studied a 2 year-old boy with bilateral congenital sensorineural deafness with dry skin over the entire body, hypotrichosis of the scalp, thin and light-blond hair. Analysis of the GJB2 gene nucleotide sequence revealed the substitution of guanine-148 by adenine predicted to result in an Asp50Asn amino acid substitution. This is the first KID report in a patient from Argentina. This de novo mutation proved to be the cause of keratitis-ichthyosis-deafness syndrome (KID-syndrome) in the patient, and has implications in medical genetic practice.

  11. Synthesis of well-defined catechol polymers for surface functionalization of magnetic nanoparticles

    OpenAIRE

    Zhang, Qiang; Nurumbetov, Gabit; Simula, Alexandre; Zhu, Chongyu; Li, Muxiu; Wilson, Paul; Kempe, Kristian; Yang, Bin; tao, lei; Haddleton, David M.

    2016-01-01

    In order to obtain dual-modal fluorescent magnetic nanoparticles, well-defined fluorescent functional polymers with terminal catechol groups were synthesized by single electron transfer living radical polymerization (SET-LRP) under aqueous conditions for “grafting to” modification of iron oxide nanoparticles. Acrylamide, N-isopropylacrylamide, poly(ethylene glycol) methyl ether acrylate, 2-hydroxyethyl acrylate, glycomonomer and rhodamine B piperazine acrylamide were homo-polymerized or block...

  12. Pengaruh Pendekatan Pengajaran dan Tipe Masalah Terhadap Kemampuan Pemecahan Masalah Tipe ILL dan WELL-DEFINED

    OpenAIRE

    Demitra Demitra

    2016-01-01

    This study focuses on examining the effects of teaching approaches (problem-based learning v.s. regular) and types of problem (ill defined v.s. well defined) on Matematical problem solving abilities. This quasi-experimental study involved 107 elementary school students, who had been randomly selected from 635 clustered students. MANCOVA analysis of pretest and posttest result indicates that there is an interactional effect of teaching approaches and types of problem on problem solving abiliti...

  13. Pengaruh Pendekatan Pengajaran dan Tipe Masalah terhadap Kemampuan Pemecahan Masalah Tipe ILL dan WELL-DEFINED

    OpenAIRE

    Demitra, Demitra

    2006-01-01

    This study focuses on examining the effects of teaching approaches (problem-based learning v.s. regular) and types of problem (ill defined v.s. well defined) on Matematical problem solving abilities. This quasi-experimental study involved 107 elementary school students, who had been randomly selected from 635 clustered students. MANCOVA analysis of pretest and posttest result indicates that there is an interactional effect of teaching approaches and types of problem on problem solving abiliti...

  14. Well-defined polyethylene molecular brushes by polyhomologation and ring opening metathesis polymerization

    KAUST Repository

    Zhang, Hefeng

    2014-01-01

    A novel strategy using polyhomologation and ring opening metathesis polymerization (ROMP) has been developed for the synthesis of well-defined polyethylene (PE) molecular brushes. Polyhomologation was used to afford an OH-terminated PE, which after transformation to the norbornyl PE macromonomer was subjected to ROMP. Kinetics of ROMP of the PE macromonomer was studied by in situ1H NMR monitoring. The brush structure was proved from HT-GPC, 1H NMR and DSC results.

  15. Living Polycondensation: Synthesis of Well-Defined Aromatic Polyamide-Based Polymeric Materials

    KAUST Repository

    Alyami, Mram Z.

    2016-11-01

    Chain growth condensation polymerization is a powerful tool towards the synthesis of well-defined polyamides. This thesis focuses on one hand, on the synthesis of well-defined aromatic polyamides with different aminoalkyl pendant groups with low polydispersity and controlled molecular weights, and on the other hand, on studying their thermal properties. In the first project, well-defined poly (N-octyl-p-aminobenzoate) and poly (N-butyl-p-aminobenzoate) were synthesized, and for the first time, their thermal properties were studied. In the second project, ethyl4-aminobenzoate, ethyl 4-octyl aminobenzoate and 4-(hydroxymethyl) benzoic acid were used as novel efficient initiators of ε-caprolactone with t-BuP2 as a catalyst. Macroinitiator and Macromonomer of poly (ε-caprolactone) were synthesized with ethyl 4-octyl aminobenzoate and ethyl 4-aminobenzoate as initiators to afford polyamide-block-poly (ε-caprolactone) and polyamide-graft-poly (ε-caprolactone) by chain growth condensation polymerization (CGCP). In the third project, a new study has been done on chain growth condensation polymerization to discover the probability to synthesize new polymers and studied their thermal properties. For this purpose, poly (N-cyclohexyl-p-aminobenzoate) and poly (N-hexyl-p-aminobenzoate) were synthesized with low polydispersity and controlled molecular weights.

  16. X-linked Ichthyosis Presenting as Erythroderma: A Rare Case.

    Science.gov (United States)

    Das, Anirban; Mishra, Vivek; Shome, Kaushik; Sen, Arpita

    2015-01-01

    X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma.

  17. X-linked ichthyosis presenting as erythroderma: A rare case

    OpenAIRE

    Anirban Das; Vivek Mishra; Kaushik Shome; Arpita Sen

    2015-01-01

    X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma.

  18. X-linked ichthyosis presenting as erythroderma: A rare case

    Directory of Open Access Journals (Sweden)

    Anirban Das

    2015-01-01

    Full Text Available X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma.

  19. Well-defined silica-supported zirconium–imido complexes mediated heterogeneous imine metathesis

    KAUST Repository

    Hamzaoui, Bilel

    2016-02-15

    Upon prolonged thermal exposure under vacuum, a well-defined single-site surface species [(≡Si-O-)Zr(NEt2)3] (1) evolves into an ethylimido complex [(≡Si-O-)Zr(=NEt)NEt2] (2). Reactions of 2 with an imine substrate result in imido/imine (=NRi, R: Et, Ph) exchange (metathesis) with the formation of [(≡Si-O-)Zr(=NPh)NEt2] (3). Compounds 2 and 3 effectively catalyze imine/imine cross-metathesis and are thus considered as the first heterogeneous catalysts active for imine metathesis. © The Royal Society of Chemistry 2016.

  20. Well-Defined Copper(I) Fluoroalkoxide Complexes for Trifluoroethoxylation of Aryl and Heteroaryl Bromides

    KAUST Repository

    Huang, Ronglu

    2015-03-17

    © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim. Copper(I) fluoroalkoxide complexes bearing dinitrogen ligands were synthesized and the structure and reactivity of the complexes toward trifluoroethoxylation, pentafluoropropoxylation, and tetrafluoropropoxylation of aryl and heteroaryl bromides were investigated. Efficiency drive: A series of copper(I) fluoroalkoxide complexes bearing N,N ligands have been prepared and structurally characterized. These well-defined complexes serve as efficient reagents for the fluoroalkoxylation of aryl and heteroaryl bromides to produce a wide range of trifluoroethyl, pentafluoropropyl, and tetrafluoropropyl (hetero)aryl ethers in good to excellent yields.

  1. Dichotomous Well-defined Nanostructure with Weakly Arranged Ion Packing Explains the Solvency of Pyrrolidinium Acetate.

    Science.gov (United States)

    Jiang, Haihui Joy; Imberti, Silvia; Atkin, Rob; Warr, Gregory G

    2017-07-13

    Pyrrolidinium ionic liquids, especially pyrrolidinium acetate (PyrrAc), have demonstrated outstanding capacity for extracting lignin from biomass, as electrolytes for fuel cells and lithium ion batteries and as solvents for acid-catalyzed reactions. In this work we show that the unusual liquid nanostructure of PyrrAc is the key to its versatility as a solvent compared to other ionic liquids. Neutron diffraction with multiple H/D isotopic substitutions reveals that the bulk nanostructure of PyrrAc is a bicontinuous network of interpenetrating polar and apolar domains. However, the arrangement of groups in both domains is strikingly different from that found in other ionic liquids. In the apolar regions, the pyrrolidinium rings are highly intercalated and disordered, with no preferred alignment between adjacent pyrrolidinium rings, which distinguishes it from both π-π stacking seen in imidazolium or pyridinium ionic liquids, and the tail-tail bilayer-like arrangements in linear alkylammonium ionic liquids. The H-bond network within the polar domain extends only to form finite clusters, with long bent H-bonds to accommodate electrostatics. Therefore, while PyrrAc unquestionably has well-defined amphiphilic nanostructure, the disordered arrangement of groups in the polar and apolar domains enables it to accommodate a wide variety of solutes. The combination of well-defined polar/apolar nanostructure, but disordered arrangements of groups within domains, is therefore the origin of PyrrAc's capacity for lignin extraction and as an electrolyte.

  2. Large and well-defined Rabi splitting in a semiconductor nanogap cavity.

    Science.gov (United States)

    Uemoto, Mitsuharu; Ajiki, Hiroshi

    2014-09-22

    We propose a nanogap structure composed of semiconductor nanoparticles forming an optical cavity. The resonant excitation of excitons in the nanoparticles can generate a localized strong light field in the gap region, also called "hot spot". The spectral width of the hot spot is significantly narrow because of the small exciton damping and the dephasing at low temperature, so the semiconductor nanogap structure acts as a high-Q cavity. In addition, the interaction between light and matter at the nanogap is significantly larger than that in a conventional microcavity, because the former has a small cavity-mode volume beyond the diffraction limit. We theoretically demonstrate the large and well-defined vacuum-Rabi splitting of a two-level emitter placed inside the semiconductor nanogap cavity: the Rabi splitting energy of 1.7 meV for the transition dipole moment of the emitter (25 Debye) is about 6.3 times larger than the spectral width. An optical cavity providing such a large and well-defined Rabi splitting is highly suited for studying characteristic features of the cavity quantum electrodynamics and for the development of new applications.

  3. Challenging nature's monopoly on the creation of well-defined nanoparticles.

    Science.gov (United States)

    Jeong, Wonhee; Napier, Mary E; DeSimone, Joseph M

    2010-06-01

    Nature has selected and fine-tuned the physical and chemical properties of natural objects, such as size, shape, mechanical properties and surface chemistry, at the molecular level in order to modulate biological functions. A new particle fabrication process, particle replication in nonwetting templates (PRINT), has recently begun to attempt to emulate nature's ability to control those physical and chemical traits. The PRINT technology, which combines modern soft lithography with the unique properties of perfluoropolyether molds, enables the production of nanoparticles with unprecedented control of size, shape, chemical composition, deformability and surface functionality. This scalable 'top-down' fabrication process allows for the generation of well-defined nanostructures without the need for molecular assembly. The ability to flexibly engineer various matrix materials offers unique opportunities for the development of nanomedicines with desired functionality. The strength and versatility of PRINT makes it a powerful platform in nanomedicine for elucidating the role of physical and chemical properties of nanodelivery vehicles on the behavior and fate at the cellular, tissue and whole organism level. Utilizing the PRINT technology, we are generating well-defined nanomedicines with tailored properties for preclinical studies against a variety of human diseases.

  4. Well-defined and biocompatible hydrogels with toughening and reversible photoresponsive properties.

    Science.gov (United States)

    Sun, Zhiqiang; Liu, Shunli; Li, Kewen; Tan, Linhua; Cen, Lian; Fu, Guodong

    2016-02-21

    In the present study, novel hydrogels with extremely high strength, reversible photoresponsive and excellent biocompatible properties were prepared. The functional hydrogels were synthesized from a well-defined poly (ethylene glycol) polymer with spiropyran groups at a given position (PEG-SP) via a Cu(i)-catalyst Azide-Alkyne Cycloaddition (CuAAC) reaction. The molecular structures of the sequential intermediates for PEG-SP hydrogel preparation were verified by (1)HNMR and FT-IR. The mechanical property, swelling ratio, compression strength, surface hydrophilicity, and biocompatibility of the resulting hydrogel were characterized. Since spiropyran is pivotal to the switch in hydrophilicity on the hydrogel surface, the swelling ratio of PEG-SP hydrogel under Vis irradiation has a major decrease (155%). Before and after UV light irradiation, the contact angle of the hydrogel has a change of 13.8°. The photoresponsive property of this hydrogel was thus demonstrated, and such a property was also shown to be reversible. The well-defined PEG-SP hydrogel can also sustain a compressive stress of 49.8 MPa without any macro- or micro-damage, indicating its outstanding mechanical performance. Furthermore, it possessed excellent biocompatibility as demonstrated by its performance in an in vivo porcine subcutaneous implantation environment. No inflammation was observed and it got along well with the adjacent tissue. The above features indicate that PEG-SP hydrogels are promising as an implantable matrix for potential applications in biomaterial.

  5. Amphiphilic conjunct of methyl cellulose and well-defined polyvinyl acetate.

    Science.gov (United States)

    Xiao, Congming; Xia, Cunping

    2013-01-01

    Tailor-made conjunct of methyl cellulose (MC) and polyvinyl acetate (PVAc) was synthesized through the combination of reversible addition-fragmentation chain transfer (RAFT) polymerization and thiol-ene click reaction. MC was firstly transferred into unsaturated MC (UMC), and then covalently connected with well-defined PVAc obtained by RAFT polymerization of vinyl acetate. The structure of the conjunct polymer (MCV) was confirmed with Fourier transform infrared spectra (FTIR) and proton nuclear magnetic resonance ((1)H NMR). Well-defined MCV was amphiphilic and able to self-assemble into size controllable micelles, which was verified with transmission electron microscopy (TEM) and size distribution analysis. It was found that the mean diameters of the micelles in aqueous solution were 105.6, 96.0 and 75.9 nm when the number average molecular weights of PVAc segments of MCV were 49,300, 32,500 and 18,200, respectively. Copyright © 2012 Elsevier B.V. All rights reserved.

  6. Formation and stability of small well-defined Cu- and Ni oxide particles

    Energy Technology Data Exchange (ETDEWEB)

    Thalinger, Ramona [Institute of Physical Chemistry, University of Innsbruck, A-6020 Innsbruck (Austria); Heggen, Marc; Stroppa, Daniel G. [Ernst Ruska Zentrum und Peter Grünberg Institut, Forschungszentrum Jülich GmbH, 52425 Jülich (Germany); Stöger-Pollach, Michael [University Service Facility for Transmission Electron Microscopy (USTEM), Vienna University of Technology, A-1040 Vienna (Austria); Klötzer, Bernhard [Institute of Physical Chemistry, University of Innsbruck, A-6020 Innsbruck (Austria); Penner, Simon, E-mail: simon.penner@uibk.ac.at [Institute of Physical Chemistry, University of Innsbruck, A-6020 Innsbruck (Austria)

    2013-12-16

    Well-defined and -structured Cu/Cu{sub 2}O and Ni/NiO composite nanoparticles have been prepared by physical-vapor deposition on vacuum-cleaved NaCl(001) single crystal facets. Epitaxial growth has been observed due to the close crystallographic matching of the respective cubic crystal lattices. Distinct particle morphologies have only been obtained for the Ni/NiO particles, comprising truncated half-octahedral, rhombohedral- and pentagonal-shaped outlines. Oxidation of the particles in the temperature range 473–673 K in both cases led to the formation of well-defined CuO and NiO particles with distinct morphologies. Whereas CuO possibly adopts its thermodynamical equilibrium shape, NiO formation is accompanied by entering a Kirkendall-like state, that is, a hollow core–shell structure is obtained. The difference in the formation of the oxides is also reflected by their stability under reducing conditions. CuO transforms back to a polycrystalline mixture of Cu metal, Cu{sub 2}O and CuO after reduction in hydrogen at 673 K. In contrast, as expected from theoretical stability considerations, the formation of the hollow NiO structure is reversed upon annealing in hydrogen at 673 K and moreover results in the formation of a Ni-rich silicide structure Ni{sub 3}Si{sub 2}. The discussed systems present a convenient way to tackle and investigate various problems in nanotechnology or catalysis, including phase transformations, establishing structure/activity relationships or monitoring intermetallic particles, starting from well-defined and simple models. - Highlights: • Preparation of epitaxial Cu/Cu{sub 2}O and Ni/NiO composite nanoparticles on NaCl(001). • Distinct Ni/NiO particle morphologies. • Formation of well-shaped CuO and NiO particles upon oxidation. • Reversal of Kirkendall-NiO-state upon reduction/annealing in hydrogen.

  7. Well-Defined Cyclic Triblock Terpolymers: A Missing Piece of the Morphology Puzzle

    KAUST Repository

    Polymeropoulos, George

    2016-10-27

    Two well-defined cyclic triblock terpolymers, missing pieces of the terpolymer morphology puzzle, consisting of poly(isoprene), polystyrene, and poly(2-vinylpyridine), were synthesized by combining the Glaser coupling reaction with anionic polymerization. An α,ω-dihydroxy linear triblock terpolymer (OH-PI1,4-b-PS-b-P2VP-OH) was first synthesized followed by transformation of the OH to alkyne groups by esterification with pentynoic acid and cyclization by Glaser coupling. The size exclusion chromatography (SEC) trace of the linear terpolymer precursor was shifted to lower elution time after cyclization, indicating the successful synthesis of the cyclic terpolymer. Additionally, the SEC trace of the cyclic terpolymer produced, after cleavage of the ester groups, shifted again practically to the position corresponding to the linear precursor. The first exploratory results on morphology showed the tremendous influence of the cyclic structure on the morphology of terpolymers. © 2016 American Chemical Society.

  8. Well-defined Cationic Shell Crosslinked Nanoparticles for Efficient Delivery of DNA or Peptide Nucleic Acids

    Science.gov (United States)

    Zhang, Ke; Fang, Huafeng; Shen, Gang; Taylor, John-Stephen A.; Wooley, Karen L.

    2009-01-01

    This mini-review highlights developments that have been made over the past year to advance the construction of well-defined nanoscale objects to serve as devices for cell transfection. Design of the nanoscale objects originated from biomimicry concepts, using histones as the model, to afford cationic shell crosslinked knedel-like (cSCK) nanoparticles. Packaging and delivery of plasmid DNA, oligonucleotides, and peptide nucleic acids were studied by dynamic light scattering, transmission electron microscopy, gel electrophoresis, biological activity assays, RT-PCR measurements, flow cytometry, and confocal fluorescence microscopy. With the demonstration of more efficient cell transfection in vitro than that achieved using commercially-available transfection agents, together with the other features offered by the robust nanostructural framework, work continues toward the application of these cSCKs for in vivo molecular recognition of genetic material, for imaging and therapy targeted specifically to pulmonary injury and disease. PMID:19687218

  9. A Green function approach to graphene-superconductor junctions with well-defined edges

    Energy Technology Data Exchange (ETDEWEB)

    Herrera, William J [Departamento de Fisica, Universidad Nacional de Colombia, Bogota (Colombia); Burset, P; Levy Yeyati, A [Departamento de Fisica Teorica de la Materia Condensada C-V, Facultad de Ciencias, Universidad Autonoma de Madrid, E-28049 Madrid (Spain)

    2010-07-14

    This work presents a novel approach to describing spectral properties of graphene layers with well-defined edges. We microscopically analyze the boundary problem for the continuous Bogoliubov-de Gennes-Dirac equations and derive the Green functions for normal and superconducting graphene layers. Importing the idea used in tight-binding models of a microscopic hopping that couples different regions, we are able to set up and solve an algebraic Dyson equation describing a graphene-superconductor junction. For this coupled system we analytically derive the Green functions and use them to calculate the local density of states and the spatial variation of the induced pairing correlations in the normal region. Signatures of specular Andreev reflections are identified.

  10. A Green function approach to graphene-superconductor junctions with well-defined edges.

    Science.gov (United States)

    Herrera, William J; Burset, P; Levy Yeyati, A

    2010-07-14

    This work presents a novel approach to describing spectral properties of graphene layers with well-defined edges. We microscopically analyze the boundary problem for the continuous Bogoliubov-de Gennes-Dirac equations and derive the Green functions for normal and superconducting graphene layers. Importing the idea used in tight-binding models of a microscopic hopping that couples different regions, we are able to set up and solve an algebraic Dyson equation describing a graphene-superconductor junction. For this coupled system we analytically derive the Green functions and use them to calculate the local density of states and the spatial variation of the induced pairing correlations in the normal region. Signatures of specular Andreev reflections are identified.

  11. Well-defined porous membranes for robust omniphobic surfaces via microfluidic emulsion templating

    Science.gov (United States)

    Zhu, Pingan; Kong, Tiantian; Tang, Xin; Wang, Liqiu

    2017-06-01

    Durability is a long-standing challenge in designing liquid-repellent surfaces. A high-performance omniphobic surface must robustly repel liquids, while maintaining mechanical/chemical stability. However, liquid repellency and mechanical durability are generally mutually exclusive properties for many omniphobic surfaces--improving one performance inevitably results in decreased performance in another. Here we report well-defined porous membranes for durable omniphobic surfaces inspired by the springtail cuticle. The omniphobicity is shown via an amphiphilic material micro-textured with re-entrant surface morphology; the mechanical durability arises from the interconnected microstructures. The innovative fabrication method--termed microfluidic emulsion templating--is facile, cost-effective, scalable and can precisely engineer the structural topographies. The robust omniphobic surface is expected to open up new avenues for diverse applications due to its mechanical and chemical robustness, transparency, reversible Cassie-Wenzel transition, transferability, flexibility and stretchability.

  12. CO-OCCURRENCE OF PRIMARY MICROCEPHALY CAUSED BY A NOVEL HOMOZYGOUS ASPM MUTATION ALONG WITH X-LINKED ICHTHYOSIS IN THE SAME PATIENT.

    Science.gov (United States)

    Abdel-Hamid, M S; Ismail, M F; Darwish, H A; Effat, L K; Zaki, M S; Abdel-Salam, G M H

    2016-01-01

    Autosomal recessive primary microcephaly is a heterogeneous genetic disorder caused by genes that affect neurogenesis. This form of microcephaly has not been associated with other congenital anomalies. ASPM mutations have been identified as the major cause implicated in autosomal recessive primary microcephaly. X-linked recessive ichthyosis, is an inborn error of steroid sulfatase metabolism characterized by dark and adhesive scaly skin. Here, we examined an Egyptian boy presenting with microcephaly and simplified gyral pattern. Additionally, he had ichthyosis that goes with the X-linked type. Mutation analyses of the ASPM gene for autosomal recessive primary microcephaly and STS gene of X-linked recessive ichthyosis were conducted revealing a co-occurrence of a novel homozygous splice site mutation of ASPM gene (c.2936+1G>A) and a partial deletion of STS spanning from exon 7-10. We propose that the phenotype of our patient results from the combined effects of mutations in both ASPM and STS that account for the neurological signs and skin manifestations, respectively. The association of isolated X-linked recessive ichthyosis and autosomal recessive primary microcephaly has never been reported in the literature. Careful clinical and genetic assessment of patients with atypical clinical phenotypes is crucial for detecting such rare double mutations and thus proper genetic counseling.

  13. A Case Report of Ichthyosis Lamellar Syndrome

    Directory of Open Access Journals (Sweden)

    Gh. Eshghi

    2014-04-01

    Full Text Available Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was associated with ectropion and eclabion and hypoplasia of auricular cartilages. She had scarring alopecia because of taut skin (specially at the periphery of scalp. She also had palmoplantar keratoderma and secondary nail dystrophy and thanked nails. Her parents also gave us the history of heat intolerance and it is because of interaepi-dermal constriction of sweat ducts. Our patient had the history of recurrent ear infections and it is because of accumulation of scales in the external ear. Conclusion: Our patient underwent a biopsy and based on our clinical findings her diagnosis was lamellar ichthyosis. (Sci J Hamadan Univ Med Sci 2014; 21 (1:76-79

  14. X-linked ichthyosis: an oculocutaneous genodermatosis.

    Science.gov (United States)

    Fernandes, Neil F; Janniger, Camila K; Schwartz, Robert A

    2010-03-01

    X-linked ichthyosis (XLI) is an X-linked recessive disorder of cutaneous keratinization with possible extracutaneous manifestations. It was first described as a distinct type of ichthyosis in 1965. XLI is caused by a deficiency in steroid sulfatase activity, which results in abnormal desquamation and a retention hyperkeratosis. XLI is usually evident during the first few weeks of life as polygonal, loosely adherent translucent scales in a generalized distribution that desquamate widely. These are quickly replaced by large, dark brown, tightly adherent scales occurring primarily symmetrically on the extensor surfaces and the side of the trunk. In addition, extracutaneous manifestations such as corneal opacities, cryptorchidism, and abnormalities related to contiguous gene syndromes may be observed. Diagnosis of XLI is usually made clinically, as the histopathology is nonspecific, but confirmation may be obtained through either biochemical or genetic analysis. Treatment should focus on cutaneous hydration, lubrication, and keratolysis and includes topical moisturizers and topical retinoids. Copyright 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  15. Well-Defined Silica Supported Aluminum Hydride: Another Step Towards the Utopian Single Site Dream?

    KAUST Repository

    Werghi, Baraa

    2015-07-17

    Reaction of triisobutylaluminum with SBA15700 at room temperature occurs by two parallel pathways involving either silanol or siloxane bridges. It leads to the formation of a well-defined bipodal [(≡SiO)2Al-CH2CH(CH3)2] 1a, silicon isobutyl [≡Si-CH2CH(CH3)2] 1b and a silicon hydride [≡Si-H] 1c. Their structural identity was characterized by FT-IR and advance solid-state NMR spectroscopies (1H, 13C, 29Si, 27Al and 2D multiple quantum), elemental and gas phase analysis, and DFT calculations. The reaction involves the formation of a highly reactive monopodal intermediate: [≡SiO-Al-[CH2CH(CH3)2]2], with evolution of isobutane. This intermediate undergoes two parallel routes: Transfer of either one isobutyl fragment or of one hydride to an adjacent silicon atom. Both processes occur by opening of a strained siloxane bridge, ≡Si-O-Si≡ but with two different mechanisms, showing that the reality of “single site” catalyst may be an utopia: DFT calculations indicate that isobutyl transfer occurs via a simple metathesis between the Al-isobutyl and O-Si bonds, while hydride transfer occurs via a two steps mechanism, the first one is a ß-H elimination to Al with elimination of isobutene, whereas the second is a metathesis step between the formed Al-H bond and a O-Si bond. Thermal treatment of 1a (at 250 °C) under high vacuum (10-5 mbar) generates Al-H through a ß-H elimination of isobutyl fragment. These supported well-defined Al-H which are highly stable with time, are tetra, penta and octa coordinated as demonstrated by IR and 27Al–1H J-HMQC NMR spectroscopy. All these observations indicate that surfaces atoms around the site of grafting play a considerable role in the reactivity of a single site system.

  16. Malignant transformation of non-neoplastic Barrett's epithelial cells through well-defined genetic manipulations.

    Directory of Open Access Journals (Sweden)

    Xi Zhang

    2010-09-01

    Full Text Available Human Barrett's cancer cell lines have numerous, poorly-characterized genetic abnormalities and, consequently, those lines have limited utility as models for studying the early molecular events in carcinogenesis. Cell lines with well-defined genetic lesions that recapitulate various stages of neoplastic progression in Barrett's esophagus would be most useful for such studies.To develop such model cell lines, we started with telomerase-immortalized, non-neoplastic Barrett's epithelial (BAR-T cells, which are spontaneously deficient in p16, and proceeded to knock down p53 using RNAi, to activate Ras by introducing oncogenic H-Ras(G12V, or both. BAR-T cells infected with either p53 RNAi or oncogenic H-Ras(G12V alone maintained cell-to-cell contact inhibition and did not exhibit anchorage-independent growth in soft agar. In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice.Through these experiments, we have generated a number of transformed and non-transformed cell lines with well-characterized genetic abnormalities recapitulating various stages of carcinogenesis in Barrett's esophagus. These lines should be useful models for the study of carcinogenesis in Barrett's esophagus, and for testing the efficacy of chemopreventive and chemotherapeutic agents.

  17. Synthesis and Complexation of Well-Defined Labeled Poly(N,N-dimethylaminoethyl methacrylates (PDMAEMA

    Directory of Open Access Journals (Sweden)

    Mark Billing

    2015-11-01

    Full Text Available We present the synthesis and characterization of well-defined polycationic copolymers containing thiazole dyes in the side chain. Atom transfer radical polymerization (ATRP was used for the copolymerization of 3-azidopropyl methacrylate (AzPMA and N,N-dimethylaminoethyl methacrylate (DMAEMA of different composition. Thiazole-based alkyne-functionalized dyes (e.g., 5-methyl-4-(prop-2-yn-1-yloxy-2-(pyridin-2-ylthiazole, (MPPT were afterwards covalently attached using copper catalyzed azide alkyne cycloadditions (CuAAC reaching contents of up to 9 mol % dye. Subsequent quaternization of the tertiary nitrogen of DMAEMA with strong methylation agents (e.g., methyl iodide led to permanently charged polyelectrolytes. The materials were characterized by size exclusion chromatography, as well as NMR- and UV/VIS-spectroscopy. Particular attention is paid to the spectroscopic properties of the dyes in the side chain upon environmental changes such as pH and salinity. We anticipate the application of such precisely functionalized polyelectrolytes as temperature- and pH-responsive sensors in biomedical applications, e.g., within interpolyelectrolyte complexes. Concerning the latter, first complex formation results are demonstrated.

  18. Synthesis, characterization and self-assembly of well-defined linear heptablock quaterpolymers

    KAUST Repository

    Ntaras, Christos

    2016-05-17

    Two well-defined heptablock quaterpolymers of the ABCDCBA type [Α: polystyrene (PS), B: poly(butadiene) with ∼90% 1,4-microstructure (PB1,4), C: poly(isoprene) with ∼55% 3,4-microstructure (PI3,4) and D: poly(dimethylsiloxane) (PDMS)] were synthesized by combining anionic polymerization high vacuum techniques and hydrosilylation/chlorosilane chemistry. All intermediates and final products were characterized by size exclusion chromatography, membrane osmometry, and proton nuclear magnetic resonance spectroscopy. Fourier transform infrared spectroscopy was used to further verify the chemical modification reaction of the difunctional PDMS. The self-assembly in bulk of these novel heptablock quarterpolymers, studied by transmission electron microscopy and small angle X-ray scattering, revealed 3-phase 4-layer alternating lamellae morphology of PS, PB1,4, and mixed PI3,4/PDMS domains. Differential scanning calorimetry was used to further confirm the miscibility of PI3,4 and PDMS blocks. It is the first time that PDMS is the central segment in such multiblock polymers (≥3 chemically different blocks). © 2016 Wiley Periodicals, Inc. J. Polym. Sci., Part B: Polym. Phys. 2016, 54, 1443–1449. © 2016 Wiley Periodicals, Inc.

  19. Comparative Evaluation of the Chemical Stability of 4 Well-Defined Immunoglobulin G1-Fc Glycoforms.

    Science.gov (United States)

    Mozziconacci, Olivier; Okbazghi, Solomon; More, Apurva S; Volkin, David B; Tolbert, Thomas; Schöneich, Christian

    2016-02-01

    As part of a series of articles in this special issue evaluating model IgG1-Fc glycoforms for biosimilarity analysis, 3 well-defined IgG1-Fc glycoforms (high mannose-Fc, Man5-Fc, and N-acetylglucosamine-Fc) and a nonglycosylated Fc protein (N297Q-Fc) were examined in this work to elucidate chemical degradation pathways. The 4 proteins underwent a combination of accelerated thermal stability studies and 4 independent forced degradation studies (UV light, metal-catalyzed oxidation, peroxyl radicals, and hydrogen peroxide) at pH 6.0. Our results highlight chemical degradations at Asn315, Met428, Trp277, and Trp313. A cross-comparison of the different Fc glycoforms, stress conditions, and the observed chemical reactions revealed that both the deamidation of Asn315 and the transformation of Trp277 into glycine hydroperoxide were glycan dependent during incubation for 3 months at 40 °C. Our data will show that different glycans not only affect chemical degradation differently but also do lead to different impurity profiles, which can affect chemical degradation. Copyright © 2016 American Pharmacists Association®. Published by Elsevier Inc. All rights reserved.

  20. Well-Defined Polyethylene-Based Random, Block, and Bilayered Molecular Cobrushes

    KAUST Repository

    Zhang, Hefeng

    2015-06-09

    Novel well-defined polyethylene-based random, block, and bilayered molecular cobrushes were synthesized through the macromonomer strategy. Two steps were involved in this approach: (i) synthesis of norbornyl-terminated macromonomers of polyethylene (PE), polycaprolactone (PCL), poly(ethylene oxide) (PEO), and polystyrene (PS), as well as polyethylene-b-polycaprolactone (PE-b-PCL), by esterification of the hydroxyl-terminated precursors (PE, PCL, PEO, PS, and PE-b-PCL) with 5-norbornene-2-carboxylic acid and (ii) ring-opening metathesis (co)polymerization of the resulting macromonomers to afford the PE-based molecular cobrushes. The PE-macromonomers were synthesized by polyhomologation of dimethylsulfoxonium methylide, while the others by anionic polymerization. Proton nuclear magnetic resonance spectroscopy (1H NMR) and high-temperature gel permeation chromatography (HT-GPC) were used to imprint the molecular characteristics of all macromonomers and molecular brushes and differential scanning calorimetry (DSC) for the thermal properties. The bilayered molecular cobrushes of P(PE-b-PCL) adopt a wormlike morphology on silica wafer as visualized by atomic force microscopy (AFM). © 2015 American Chemical Society.

  1. Co-aggregation of two anionic azo dyestuffs at a well-defined stoichiometry.

    Science.gov (United States)

    Michels, Rolf; Sinemus, Thomas; Hoffmann, Jan; Brutschy, Bernhard; Huber, Klaus

    2013-07-18

    The present work investigates the formation of well-defined heteroaggregates from a binary mixture of a red and a yellow azo-dyestuff in the presence of Mg(2+) ions. Combined static and dynamic light scattering together with laser induced liquid bead ion desorption mass spectrometry (LILBID-MS) has been applied to characterize the states of the pure red dye and the pure yellow dye as well as of their mixture in aqueous solution without Mg(2+). These experiments indicated that a structural reorganization on a molecular scale takes place as soon as the two dyes are combined. Solutions of the combined red and yellow dye contain micelle-like mixed entities with a size of a few tenths of nanometers. Upon the addition of Mg(2+), these micelles vanish in favor of elongated heteroaggregates, which grow by a stepwise addition of smaller building units. As unraveled by UV/vis spectroscopy, the heteroaggregates that are formed from the red and yellow azo dye in the presence of Mg(2+) obey a stoichiometric ratio of the two components of 1:1. A new multiangle scattering instrument allowed us for the first time to follow this aggregation process at the stoichiometric ratio by time-resolved combined static and dynamic light scattering, thereby providing further aspects of the worm-like nature of the growing heteroaggregates.

  2. Health-related quality of life among patients with ichthyosis.

    Science.gov (United States)

    Gånemo, Agneta; Sjöden, Per-Olow; Johansson, Eva; Vahlquist, Anders; Lindberg, Magnus

    2004-01-01

    Ichthyosis encompasses a heterogeneous group of hereditary skin disorders, which can be present at birth or develop in childhood. The aim of the present study was to investigate the Health related quality of life (HRQoL) of patients with ichthyosis. Two questionnaires (Dermatology Life Quality Index [DLQI], and the generic Short Form [SF] - 36) and a subjective measure of disease activity employing a visual analogue scale (VAS) were mailed to 144 patients. 122 patients aged 17-78 years responded. The median for DLQI was 5.0, which was significantly higher (worse) for Lamellar ichthyosis than for X-linked recessive ichthyosis. The SF-36 showed significantly lower (worse) scores for the study group in four of the eight dimensions compared to age- and gender-adjusted Swedish norm scores. No differences in SF-36 were found between men and women or between the different groups of ichthyosis. The results demonstrate that ichthyosis has an adverse effect on HRQoL. Copyright John Libbey Eurotext 2003.

  3. Catalysis by Design: Well-Defined Single-Site Heterogeneous Catalysts.

    Science.gov (United States)

    Pelletier, Jérémie D A; Basset, Jean-Marie

    2016-04-19

    Heterogeneous catalysis, a field important industrially and scientifically, is increasingly seeking and refining strategies to render itself more predictable. The main issue is due to the nature and the population of catalytically active sites. Their number is generally low to very low, their "acid strengths" or " redox properties" are not homogeneous, and the material may display related yet inactive sites on the same material. In many heterogeneous catalysts, the discovery of a structure-activity reationship is at best challenging. One possible solution is to generate single-site catalysts in which most, if not all, of the sites are structurally identical. Within this context and using the right tools, the catalyst structure can be designed and well-defined, to reach a molecular understanding. It is then feasible to understand the structure-activity relationship and to develop predictable heterogeneous catalysis. Single-site well-defined heterogeneous catalysts can be prepared using concepts and tools of surface organometallic chemistry (SOMC). This approach operates by reacting organometallic compounds with surfaces of highly divided oxides (or of metal nanoparticles). This strategy has a solid track record to reveal structure-activity relationship to the extent that it is becoming now quite predictable. Almost all elements of the periodical table have been grafted on surfaces of oxides (from simple oxides such as silica or alumina to more sophisticated materials regarding composition or porosity). Considering catalytic hydrocarbon transformations, heterogeneous catalysis outcome may now be predicted based on existing mechanistic proposals and the rules of molecular chemistry (organometallic, organic) associated with some concepts of surface sciences. A thorough characterization of the grafted metal centers must be carried out using tools spanning from molecular organometallic or surface chemistry. By selection of the metal, its ligand set, and the support taken

  4. Catalysis by Design: Well-Defined Single-Site Heterogeneous Catalysts

    KAUST Repository

    Pelletier, Jeremie

    2016-03-09

    ConspectusHeterogeneous catalysis, a field important industrially and scientifically, is increasingly seeking and refining strategies to render itself more predictable. The main issue is due to the nature and the population of catalytically active sites. Their number is generally low to very low, their "acid strengths" or " redox properties" are not homogeneous, and the material may display related yet inactive sites on the same material. In many heterogeneous catalysts, the discovery of a structure-activity reationship is at best challenging. One possible solution is to generate single-site catalysts in which most, if not all, of the sites are structurally identical. Within this context and using the right tools, the catalyst structure can be designed and well-defined, to reach a molecular understanding. It is then feasible to understand the structure-activity relationship and to develop predictable heterogeneous catalysis. Single-site well-defined heterogeneous catalysts can be prepared using concepts and tools of surface organometallic chemistry (SOMC). This approach operates by reacting organometallic compounds with surfaces of highly divided oxides (or of metal nanoparticles). This strategy has a solid track record to reveal structure-activity relationship to the extent that it is becoming now quite predictable. Almost all elements of the periodical table have been grafted on surfaces of oxides (from simple oxides such as silica or alumina to more sophisticated materials regarding composition or porosity).Considering catalytic hydrocarbon transformations, heterogeneous catalysis outcome may now be predicted based on existing mechanistic proposals and the rules of molecular chemistry (organometallic, organic) associated with some concepts of surface sciences. A thorough characterization of the grafted metal centers must be carried out using tools spanning from molecular organometallic or surface chemistry. By selection of the metal, its ligand set, and the

  5. Sorption and diffusion of phenols onto well-defined ordered nanoporous monolithic silicas.

    Science.gov (United States)

    El-Safty, S A

    2003-04-01

    The sorption of phenol, and o-, m-, and p-aminophenol (o-, m-, and p-AP) onto highly ordered mesoporous silicas (HOM) with cubic Im3m (HOM-1), hexagonal H(I) (HOM-2), 3-D hexagonal p6(3)/mmc (HOM-3), cubic Ia3d (HOM-5), lamellar L( infinity ) (HOM-6), and solid phase S (HOM-8) materials has been investigated kinetically. Nanostructured silica molecular sieves have been prepared at 25 and 60 degrees C with lyotropic liquid-crystalline phases of the nonionic surfactant (Brij 76) that was used as a structure-directing agent. Such nanostructured silicas have been studied by 29Si nuclear magnetic resonance (29Si NMR), powder X-ray diffraction (XRD), the Brunauer-Emmett-Teller (BET) method for nitrogen adsorption and surface area measurements, and transmission electron microscopy (TEM) techniques after synthesis and sorption. It was found that all materials exhibit well-defined long-range porous architectures without significant loss of the ordered texture during phenol sorption. The kinetics of phenol sorption has been studied spectrophotometrically at different temperatures (25-40 degrees C; +/-0.1 range). The sorption rate is zero order in all phenols sorbed, and increases directly in the pattern P >m-AP > o-AP > p-AP, which reflects the mobility of the phenol compounds on the particle pores. The isothermal sorption and the kinetic parameters were discussed and it was established that a diffusion-controlled process characterizes phenol sorption. Furthermore, the mechanism of phenol sorption was deduced to be predominantly particle diffusion. The diffusion coefficients were determined using Fick's equation. The trend of diffusion of all phenols onto nanoporous silica was HOM-8 > HOM-2 > HOM-6 > HOM-5 > HOM-1 > HOM-3, reflecting the effect of the uniform pore size distribution and the internal surface area of the nanostructured silicas on the diffusion process.

  6. A Well-Defined Osmium-Cupin Complex: Hyperstable Artificial Osmium Peroxygenase.

    Science.gov (United States)

    Fujieda, Nobutaka; Nakano, Takumi; Taniguchi, Yuki; Ichihashi, Haruna; Sugimoto, Hideki; Morimoto, Yuma; Nishikawa, Yosuke; Kurisu, Genji; Itoh, Shinobu

    2017-04-03

    Thermally stable TM1459 cupin superfamily protein from Thermotoga maritima was repurposed as an osmium (Os) peroxygenase by metal-substitution strategy employing the metal-binding promiscuity. This novel artificial metalloenzyme bears a datively bound Os ion supported by the 4-histidine motif. The well-defined Os center is responsible for not only the catalytic activity but also the thermodynamic stability of the protein folding, leading to the robust biocatalyst (Tm ≈ 120 °C). The spectroscopic analysis and atomic resolution X-ray crystal structures of Os-bound TM1459 revealed two types of donor sets to Os center with octahedral coordination geometry. One includes trans-dioxide, OH, and mer-three histidine imidazoles (O3N3 donor set), whereas another one has four histidine imidazoles plus OH and water molecule in a cis position (O2N4 donor set). The Os-bound TM1459 having the latter donor set (O2N4 donor set) was evaluated as a peroxygenase, which was able to catalyze cis-dihydroxylation of several alkenes efficiently. With the low catalyst loading (0.01% mol), up to 9100 turnover number was achieved for the dihydroxylation of 2-methoxy-6-vinyl-naphthalene (50 mM) using an equivalent of H2O2 as oxidant at 70 °C for 12 h. When octene isomers were dihydroxylated in a preparative scale for 5 h (2% mol cat.), the terminal alkene octene isomers was converted to the corresponding diols in a higher yield as compared with the internal alkenes. The result indicates that the protein scaffold can control the regioselectivity by the steric hindrance. This protein scaffold enhances the efficiency of the reaction by suppressing disproportionation of H2O2 on Os reaction center. Moreover, upon a simple site-directed mutagenesis, the catalytic activity was enhanced by about 3-fold, indicating that Os-TM1459 is evolvable nascent osmium peroxygenase.

  7. Physics and chemistry on well-defined semiconductor and oxide surfaces

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Peijun

    1992-12-31

    High resolution electron energy loss spectroscopy (HREELS) and other surface spectroscopic techniques have been employed to investigate the following two classes of surface/interface phenomena on well-defined semiconductor and oxide surfaces: (i) the fundamental physical and chemical processes involved in gas-solid interaction on silicon single crystal surfaces, and (ii) the physical and chemical properties of metal-oxide interfaces. The particular systems reported in this dissertation are: NH{sub 3}, PH{sub 3} and B{sub 10}H{sub 14} on Si(111)-(7 x 7); NH{sub 3} on Si(100)-(2 x 1); atomic H on Si(111)-(7 x 7) and boron-modified Si(111); Al on Al{sub 2}O{sub 3} and Sn on SiO{sub 2}. On silicon surfaces, the surface dangling bonds function as the primary adsorption sites where surface chemical processes take place. The unambiguous identification of surface species by vibrational spectroscopy allow the elementary steps involved in these surface chemical processes to be followed on a molecular level. For adsorbate such as NH{sub 3} and PH{sub 3}, the nature of the initial low temperature (100-300 K) adsorption is found to be dissociative, while that for B{sub 10}H{sub 14} is non-dissociative. This has been deduced based upon the presence (or absence) of specific characteristic vibrational mode(s) on surface. By following the evolution of surface species as a function of temperature, the elementary steps leading to silicon nitride thin film growth and doping of silicon are elucidated. In the case of NH{sub 3} on Si(111)-(7 x7) and Si(100)-(2 x 1), a detailed understanding on the role of substrate surface structure is controlling the surface reactivity has been gained on the basis of a Si adatom backbond-strain relief mechanism on the Si(111)-(7 x 7). The electronic modification to Si(111) surface by subsurface boron doping has been shown to quench its surface chemistry, even for the most aggressive atomic H.

  8. Management of Epidermolytic Ichthyosis in the Newborn.

    Science.gov (United States)

    Avril, Mondell; Riley, Cheryl

    2016-01-01

    Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder. Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.

  9. Burn injury and wound healing in X-linked ichthyosis.

    Science.gov (United States)

    Yancon, Andrea R; Wahl, Wendy L

    2010-01-01

    X-linked ichthyosis is a skin condition of decreased keratin degradation and hyperkeratosis resulting from a deficiency of steroid sulfatase causing scaly skin. Burns in these patients may require skin grafting and harvesting from diseased donor sites. No descriptions of the outcomes of attempted grafting, donor site healing, and burn recovery in patients with X-linked ichthyosis exist. The authors describe split-thickness skin grafting in one patient with X-linked ichthyosis who sustained a burn with crush injury to his bilateral lower extremities. Although he developed cellulitis, there is no evidence that patients with ichthyosis have higher rates of infection. The patient exhibited rapid healing at postgrafting clinic visits with a much flatter texture than expected early after meshed skin grafting. This could be a benefit of the excess keratin state. Wound healing was not impaired by the ichthyosis. Concerns over skin harvest were alleviated by aggressive topical emollients, which did not negatively impact harvest of donor skin or primary burn site healing.

  10. X-linked ichthyosis along with epidermolysis bullosa

    Directory of Open Access Journals (Sweden)

    Shambulingappa Pallagatti

    2012-01-01

    Full Text Available Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis.Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation.In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

  11. X-linked ichthyosis along with epidermolysis bullosa.

    Science.gov (United States)

    Pallagatti, Shambulingappa; Sheikh, Soheyl; Kaur, Anupreet; Aggarwal, Amit; Singh, Ravinder

    2012-04-01

    Ichthyoses are a heterogenous group of hereditary keratinization disorders that share in common the accumulation & shedding of large amounts of hyperkeratotic epidermis. Early reports of ichthyosis in the Indian and Chinese literature date back to several hundred years. X-linked recessive ichthyosis (XLI) is a common disorder of keratinization and affects males who inherit an X-chromosome having a steroid sulphatase genetic mutation. In the present communication we report a case of XLI and dystrophic epidermolysis bullosa in the same patient. To the best of our knowledge it has been reported only once before.

  12. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.

    Science.gov (United States)

    Mégarbané, Hala; Mégarbané, André

    2011-05-21

    The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above the surface of the skin, decreased or absent sebaceous glands, and decreased desmosomes in number and size. The disorder results from mutations in the MBTPS2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. Cardiopulmonary complications remain the major cause of death.

  13. Ichthyosis follicularis, alopecia, and photophobia (IFAP syndrome

    Directory of Open Access Journals (Sweden)

    Mégarbané André

    2011-05-01

    Full Text Available Abstract The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features such as short stature, intellectual disability, and seizures may develop in the first few years of life. Skin histopathology is non-specific and consists of dilated hair follicles with keratin plugs extending above the surface of the skin, decreased or absent sebaceous glands, and decreased desmosomes in number and size. The disorder results from mutations in the MBTPS2 gene that impairs cholesterol homeostasis and the ability to cope with endoplasmic reticulum stress. Follicular hyperkeratosis can be treated using topical keratolytics, emollients and urea preparations. A moderate response to acitretin therapy has been noted in some patients. Intensive lubrication of the ocular surface is essential. Life expectancy in patients with IFAP syndrome can vary from death in the neonatal period to normal surviving. Cardiopulmonary complications remain the major cause of death.

  14. HARLEQUIN ICHTHYOSIS IN AN AFRICAN CHILD: CASE REPORT

    African Journals Online (AJOL)

    East African Journal Vol. 87 No. 9 September 2010. HARLEQUIN ICHTHYOSIS IN AN AFRICAN CHILD: CASE REPORT. A. N. Migowa, MBChB and C. W. Murungi, MBChB, Aga khan University Hospital, P. O. Box 30270 - 00100, Nairobi,. B. W. Gatinu, MBChB, MMed (Paed), Meru District Hospital, J. Mbithe, MBChB, ...

  15. Corneal manifestations of X-linked ichthyosis in two brothers.

    Science.gov (United States)

    Haritoglou, C; Ugele, B; Kenyon, K R; Kampik, A

    2000-11-01

    To report the unusual manifestation of X-linked ichthyosis in two brothers. Leukocyte separation and sterylsulfatase assay are performed to show the deficiency of sterylsulfatase. Two brothers presented in our clinic with cutaneous alterations consistent with X-linked ichthyosis. Ocular examination disclosed fine, flour-like, punctate, evenly, and diffusely distributed opacities of the posterior corneal stroma, close to Descemet membrane in both patients. In one patient, superficial, small, granular opacities were detected. They were gray in color and seemed to involve the epithelium and the subepithelial and anterior stromal layers. In both patients, the deficiency of sterylsulfatase could be shown and confirmed the diagnosis. Flour-like opacities in the posterior stroma have been shown to be a common manifestation of X-linked ichthyosis. Though the underlying biochemical defect in X-linked ichthyosis has been discovered, the question of how these opacities develop is still a subject of debate. Subepithelial stromal keratopathies or epithelial irregularities are uncommon and are rarely described in the literature. The superficial corneal changes seen in one of our patients are unusual and are not similar to those reported by other authors.

  16. STS gene in a pedigree with X-linked ichthyosis.

    Science.gov (United States)

    Liu, An; Xiao, Shengxiang; Tan, Shengshun; Lei, Xiaobing; Zhang, Jiang'an; Jiao, Ting; Liu, Yan

    2005-01-01

    To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.

  17. Congenital Toxoplasmosis

    Science.gov (United States)

    McAuley, James B.

    2014-01-01

    Toxoplasmosis is caused by infection with the parasite Toxoplasma gondii. It is one of the most common parasitic infections in humans and is most typically asymptomatic. However, primary infection in a pregnant woman can cause severe and disabling disease in the developing fetus. Recent developments have included increased understanding of the role of parasite genotype in determining infectivity and disease severity. Risk factors for acquisition of infection have been better defined, and the important role of foodborne transmission has been further delineated. In addition, strategies have emerged to decrease mother-to-child transmission through prompt identification of acutely infected pregnant women followed by appropriate treatment. Refined diagnostic tools, particularly the addition of immunoglobulin G avidity testing, allow for more accurate timing of maternal infection and hence better decision making during pregnancy. Congenitally infected children can be treated, beginning in utero and continuing through the first year of life, to ameliorate the severity of disease. However, despite these many advances in our understanding of congenital toxoplasmosis prevention and treatment, significant areas of study remain: we need better drugs, well defined strategies for screening of pregnant women, improved food safety, and improved diagnostic tests. PMID:25232475

  18. Structure of branching enzyme- and amylomaltase modified starch produced from well-defined amylose to amylopectin substrates

    DEFF Research Database (Denmark)

    Sorndecha, Waraporn; Sagnelli, Domenico; Meier, Sebastian

    2016-01-01

    constituent in starch and the effect of amylose on enzyme catalysis was investigated using amylose-only barley starch (AO) and waxy maize starch (WX) in well-defined ratios. All products were analysed for amylopectin chain length distribution, α-1,6 glucosidic linkages content, molar mass distribution...... and digestibility by using rat intestinal α-glucosidases. For each enzyme treatment series, increased AO content resulted in a higher rate of α-1,6 glucosidic linkage formation but as an effect of the very low initial branching of the AO, the final content of α-1,6 glucosidic linkages was slightly lower as compared...

  19. Efficient hydrogen liberation from formic acid catalyzed by a well-defined iron pincer complex under mild conditions.

    Science.gov (United States)

    Zell, Thomas; Butschke, Burkhard; Ben-David, Yehoshoa; Milstein, David

    2013-06-17

    Hydrogen liberation: An attractive approach to reversible hydrogen storage applications is based on the decomposition of formic acid. The efficient and selective hydrogen liberation from formic acid is catalyzed by an iron pincer complex in the presence of trialkylamine. Turnover frequencies up to 836 h⁻¹ and turnover numbers up to 100,000 were achieved at 40 °C. A mechanism including well-defined intermediates is suggested on the basis of experimental and computational data. Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  20. Ichthyosis follicularis with alopecia and photophobia (IFAP syndrome

    Directory of Open Access Journals (Sweden)

    Rai Vandana

    2006-01-01

    Full Text Available A 12-year-old boy born of a nonconsanguineous marriage presented with dry rough skin and photophobia since birth. His growth and developmental milestones were normal and there was no history of any neurological problem, hearing deficit or scarring around the hair follicles. Cutaneous examination revealed diffuse thinning of scalp hair with loss of eyebrows and eyelashes and a sandpapery texture of the skin all over the body, suggestive of ichthyosis follicularis with alopecia and photophobia syndrome.

  1. Physical degradation of proteins in well-defined fluid flows studied within a four-roll apparatus.

    Science.gov (United States)

    Simon, S; Krause, H J; Weber, C; Peukert, W

    2011-12-01

    In most applications of biotechnology and downstream processing proteins are exposed to fluid stresses in various flow configurations which often lead to the formation of unwanted protein aggregates. In this paper we present physical degradation experiments for proteins under well-defined flow conditions in a four-roll apparatus. The flow field was characterized numerically by computational fluid dynamics (CFD) and experimentally by particle image velocimetry (PIV). The local shear strain rate as well as the local shear and elongation rate was used to characterize the hydrodynamic stress environment acting on the proteins. Lysozyme was used as a model protein and subjected to well-defined fluid stresses in high and low stress environment. By using in situ turbidity measurements during stressing the aggregate formation was monitored directly in the fluid flow. An increase in absorbance at 350 nm was attributed to a higher content of visible particles (>1 µm). In addition to lysozyme, the formation of aggregates was confirmed for two larger proteins (bovine serum albumin and alcohol dehydrogenase). Thus, the presented experimental setup is a helpful tool to monitor flow-induced protein aggregation with high reproducibility. For instance, screening experiments for formulation development of biopharmaceuticals for fill and finish operations can be performed in the lab-scale in a short time-period if the stress distributions in the application are transferred and applied in the four-roll mill. Copyright © 2011 Wiley Periodicals, Inc.

  2. Synthesis and evaluation of a well-defined HPMA copolymer-dexamethasone conjugate for effective treatment of rheumatoid arthritis.

    Science.gov (United States)

    Liu, Xin-Ming; Quan, Ling-Dong; Tian, Jun; Alnouti, Yazen; Fu, Kai; Thiele, Geoffrey M; Wang, Dong

    2008-12-01

    To develop a pH-sensitive dexamethasone (Dex)-containing N-(2-hydroxypropyl)methacrylamide (HPMA) copolymer conjugate with well-defined structure for the improved treatment of rheumatoid arthritis (RA). A new pH-sensitive Dex-containing monomer (MA-Gly-Gly-NHN=Dex) was synthesized and copolymerized with HPMA using reversible addition-fragmentation transfer (RAFT) polymerization. The structure of the resulting HPMA copolymer-Dex conjugate (P-Dex) was analyzed and its therapeutic efficacy was evaluated on adjuvant-induced arthritis (AIA) rats. P-Dex was synthesized with controllable molecular weight and polydispersity index (PDI). The Dex content can be controlled by the feed-in ratio of MA-Gly-Gly-NHN=Dex. The P-Dex used for in vitro and in vivo evaluation has a average molecular weight (M (w)) of 34 kDa and a PDI of 1.34. The in vitro drug-release studies showed that the Dex release from the conjugate was triggered by low pH. Clinical measurements, endpoint bone mineral density (BMD) test and histology grading from the in vivo evaluation all suggest that newly synthesized P-Dex has strong and long-lasting anti-inflammatory and joint protection effects. A HPMA copolymer-dexamethasone conjugate with a well-defined structure has been synthesized and proved to be an effective anti-arthritis therapy. It may have a unique clinical application in the treatment of rheumatoid arthritis.

  3. In Situ SIMS and IR Spectroscopy of Well-Defined Surfaces Prepared by Soft Landing of Mass-Selected Ions

    Energy Technology Data Exchange (ETDEWEB)

    Johnson, Grant E.; Gunaratne, Kalupathirannehelage Don D.; Laskin, Julia

    2014-06-16

    Soft landing of mass-selected ions onto surfaces is a powerful approach for the highly-controlled preparation of materials that are inaccessible using conventional synthesis techniques. Coupling soft landing with in situ characterization using secondary ion mass spectrometry (SIMS) and infrared reflection absorption spectroscopy (IRRAS) enables analysis of well-defined surfaces under clean vacuum conditions. The capabilities of three soft-landing instruments constructed in our laboratory are illustrated for the representative system of surface-bound organometallics prepared by soft landing of mass-selected ruthenium tris(bipyridine) dications, [Ru(bpy)3]2+, onto carboxylic acid terminated self-assembled monolayer surfaces on gold (COOH-SAMs). In situ time-of-flight (TOF)-SIMS provides insight into the reactivity of the soft-landed ions. In addition, the kinetics of charge reduction, neutralization and desorption occurring on the COOH-SAM both during and after ion soft landing are studied using in situ Fourier transform ion cyclotron resonance (FT-ICR)-SIMS measurements. In situ IRRAS experiments provide insight into how the structure of organic ligands surrounding metal centers is perturbed through immobilization of organometallic ions on COOH-SAM surfaces by soft landing. Collectively, the three instruments provide complementary information about the chemical composition, reactivity and structure of well-defined species supported on surfaces.

  4. A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes.

    Science.gov (United States)

    Goodwin, Gregory; Hawley, Pamela P; Miller, David T

    2016-03-01

    Atypical presentations of complex multisystem disorders may elude diagnosis based on clinical findings only. Appropriate diagnostic tests may not be available or available tests may not provide appropriate coverage of relevant genomic regions for patients with complex phenotypes. Clinical whole-exome/-genome sequencing is often considered for complex patients lacking a definitive diagnosis. A boy who is now 7 years old presented as a newborn with congenital ichthyosis. At 6 weeks of age, he presented with failure to thrive and hypoparathyroidism. At 4 years of age, he was diagnosed with sensorineural hearing loss. Whole-genome sequencing identified novel mutations in GATA3, which causes HDR syndrome (hypoparathyroidism and deafness), and STS, which causes X -linked congenital ichthyosis. Whole-genome sequencing led to a definitive clinical diagnosis in a case where no other clinical test was available for GATA3, and no sequencing panel would have included both genes because they have disparate phenotypes. This case demonstrates the power of whole-genome (or exome) sequencing for patients with complex clinical presentations involving endocrine abnormalities.

  5. Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

    Science.gov (United States)

    Oeffner, Frank; Martinez, Francisco; Schaffer, Julie; Salhi, Aïcha; Monfort, Sandra; Oltra, Silvestre; Neidel, Ulrike; Bornholdt, Dorothea; van Bon, Bregje; König, Arne; Happle, Rudolf; Grzeschik, Karl-Heinz

    2011-05-01

    Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome is an X-linked genodermatosis with congenital atrichia being the most prominent feature. Recently, we have shown that functional deficiency of MBTPS2 (membrane-bound transcription factor protease site 2) - a zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response - causes the disease. Here, we present results obtained by analysing two intronic MBTPS2 mutations, c.671-9T>G and c.225-6T>A, using in silico and cell-based splicing assays. Accordingly, the c.225-6T>A transversion generated a new splice acceptor site, which caused extension of exon 3 by four bases and subsequently introduced a premature stop codon. Both, minigene experiments and RT-PCR analysis with patient-derived mRNA, demonstrated that the c.671-9T>G mutation resulted in skipping of exon 6, most likely because of disruption of the polypyrimidin tract or a putative intronic splicing enhancer (ISE). Our combined biocomputational and experimental analysis strongly suggested that both intronic alterations are disease-causing mutations. © 2011 John Wiley & Sons A/S.

  6. The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.

    Science.gov (United States)

    Hand, Jennifer L; Runke, Cassandra K; Hodge, Jennelle C

    2015-04-01

    Steroid sulfatase (STS) gene disruption causes X-linked ichthyosis (XLI). Interrogating the entire genome through chromosomal microarray (CMA), a test primarily used to screen patients with noncutaneous congenital anomalies, may detect STS deletions incidentally. We sought to determine the variability of skin features associated with STS deletions diagnosed through CMA and to compare these findings with XLI cases reported in the literature and recognized in a dermatology clinic. Male patients with an STS deletion were identified from 23,172 consecutive postnatal blood samples tested with CMA at Mayo Clinic. A comparison group of male patients with biochemically confirmed XLI was ascertained in the dermatology clinic. The available patient medical records, skin histopathology, and photographs were evaluated and a literature search of patients with XLI was conducted. Children whose diagnosis was made incidentally through CMA had milder skin phenotypes, including dryness or eczema, or both, and did not manifest the polygonal or "dirty" scale described as typical of XLI in the literature. The small sample size, limited clinical information, and assessment by nondermatologists in a subset of cases may have influenced the results. STS deletions may cause a milder skin phenotype than the typical presentation of XLI. Copyright © 2014 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  7. Well-Defined Molybdenum Oxo Alkyl Complex Supported on Silica by Surface Organometallic Chemistry: A Highly Active Olefin Metathesis Precatalyst

    KAUST Repository

    Merle, Nicolas

    2016-12-05

    The well-defined silica-supported molybdenum oxo alkyl species (SiO−)MoO(CH Bu) was selectively prepared by grafting of MoO(CH Bu)Cl onto partially dehydroxylated silica (silica) using the surface organometallic chemistry approach. This surface species was fully characterized by elemental analysis and DRIFT, solid-state NMR, and EXAFS spectroscopy. This new material is related to the active species of industrial supported MoO/SiO olefin metathesis catalysts. It displays very high activity in propene self-metathesis at mild (turnover number = 90 000 after 25 h). Remarkably, its catalytic performance outpaces those of the parent imido derivative and its tungsten oxo analogue.

  8. Preparation of well-defined erythromycin imprinted non-woven fabrics via radiation-induced RAFT-mediated grafting

    Science.gov (United States)

    Söylemez, Meshude Akbulut; Barsbay, Murat; Güven, Olgun

    2018-01-01

    Radiation-induced RAFT polymerization technique was applied to synthesize well-defined molecularly imprinted polymers (MIPs) of erythromycin (ERY). Methacrylic acid (MAA) was grafted onto porous polyethylene (PE)/polypropylene (PP) nonwoven fabrics, under γ-irradiation by employing 2-pheny-2-propyl benzodithioate as the RAFT agent and ethylene glycol dimethacrylate (EGDMA) as the crosslinker. MAA/erythromycin ratios of 2/1, 4/1, 6/1 were tested to optimize the synthesis of MIPs. The highest binding capacity was encountered at a MAA/ERY ratio of 4/1. Non-imprinted polymers (NIPs) were also synthesized in the absence of ERY. The MIPs synthesized by RAFT method presented a better binding capacity compared to those prepared by conventional method where no RAFT agent was employed.

  9. Well-Defined Molybdenum Oxo Alkyl Complex Supported on Silica by Surface Organometallic Chemistry: A Highly Active Olefin Metathesis Precatalyst.

    Science.gov (United States)

    Merle, Nicolas; Le Quéméner, Frédéric; Bouhoute, Yassine; Szeto, Kai C; De Mallmann, Aimery; Barman, Samir; Samantaray, Manoja K; Delevoye, Laurent; Gauvin, Régis M; Taoufik, Mostafa; Basset, Jean-Marie

    2017-02-15

    The well-defined silica-supported molybdenum oxo alkyl species (≡SiO-)MoO(CH2tBu)3 was selectively prepared by grafting of MoO(CH2tBu)3Cl onto partially dehydroxylated silica (silica700) using the surface organometallic chemistry approach. This surface species was fully characterized by elemental analysis and DRIFT, solid-state NMR, and EXAFS spectroscopy. This new material is related to the active species of industrial supported MoO3/SiO2 olefin metathesis catalysts. It displays very high activity in propene self-metathesis at mild (turnover number = 90 000 after 25 h). Remarkably, its catalytic performance outpaces those of the parent imido derivative and its tungsten oxo analogue.

  10. Acyclic Diene Metathesis (ADMET Polymerization for Precise Synthesis of Defect-Free Conjugated Polymers with Well-Defined Chain Ends

    Directory of Open Access Journals (Sweden)

    Tahmina Haque

    2015-03-01

    Full Text Available This accounts introduces unique characteristics by adopting the acyclic diene metathesis (ADMET polymerization for synthesis of conjugated polymers, poly(arylene vinylenes, known as promising molecular electronics. The method is more suitable than the other methods in terms of atom efficiency affording defect-free, stereo-regular (exclusive trans polymers with well-defined chain ends; the resultant polymers possess better property than those prepared by the conventional methods. The chain ends (vinyl group in the resultant polymer prepared by ruthenium-carbene catalyst(s can be modified by treating with molybdenum-alkylidene complex (olefin metathesis followed by addition of various aldehyde (Wittig type cleavage, affording the end-functionalized polymers exclusively. An introduction of initiating fragment, the other conjugated segment, and one-pot synthesis of end-functionalized block copolymers, star shape polymers can be achieved by adopting this methodology.

  11. Stable aqueous based Cu nanoparticle ink for printing well-defined highly conductive features on a plastic substrate.

    Science.gov (United States)

    Jeong, Sunho; Song, Hae Chun; Lee, Won Woo; Lee, Sun Sook; Choi, Youngmin; Son, Wonil; Kim, Eui Duk; Paik, Choon Hoon; Oh, Seok Heon; Ryu, Beyong-Hwan

    2011-03-15

    With the aim of inkjet printing highly conductive and well-defined Cu features on plastic substrates, aqueous based Cu ink is prepared for the first time using water-soluble Cu nanoparticles with a very thin surface oxide layer. Owing to the specific properties, high surface tension and low boiling point, of water, the aqueous based Cu ink endows a variety of advantages over conventional Cu inks based on organic solvents in printing narrow conductive patterns without irregular morphologies. It is demonstrated how the design of aqueous based ink affects the basic properties of printed conductive features such as surface morphology, microstructure, conductivity, and line width. The long-term stability of aqueous based Cu ink against oxidation is analyzed through an X-ray photoelectron spectroscopy (XPS) based investigation on the evolution of the surface oxide layer in the aqueous based ink.

  12. Self-assembly behavior of well-defined polymethylene-block-poly(ethylene glycol) copolymers in aqueous solution

    KAUST Repository

    Alkayal, Nazeeha

    2016-09-22

    A series of well-defined amphiphilic polymethylene-b-poly(ethylene glycol) (PM-b-PEG) diblock copolymers, with different hydrophobic chain length, were synthesized by combining Diels-Alder reaction with polyhomologation. The successful synthetic procedure was confirmed by size-exclusion chromatography (SEC) and 1H NMR spectroscopy. These block copolymers self-assembled into spherical micelles in aqueous solutions and exhibit low critical micelle concentration (CMC) of 2–4 mg/mL, as determined by fluorescence spectroscopy using pyrene as a probe. Measurements of the micelle hydrodynamic diameters, performed by dynamic light scattering (DLS), cryo-transmission electron microscopy (cryo-TEM) and atomic force microscopy (AFM), revealed a direct dependence of the micelle size from the polymethylene block length.

  13. Synthesis of Well-Defined Polybenzamide-block-Polystyrene by Combination of Chain-Growth Condensation Polymerization and RAFT Polymerization.

    Science.gov (United States)

    Masukawa, Tomohiro; Yokoyama, Akihiro; Yokozawa, Tsutomu

    2009-08-18

    Well-defined diblock copolymers composed of poly(N-octylbenzamide) and polystyrene were synthesized by reversible addition-fragmentation chain transfer (RAFT) polymerization of styrene with a polyamide chain transfer agent (CTA) prepared via chain-growth condensation polymerization. Synthesis of a dithioester-type macro-CTA possessing the polyamide segment as an activating group was unsatisfactory due to side reactions and incomplete introduction of the benzyl dithiocarbonyl unit. On the other hand, a dithiobenzoate-CTA containing poly(N-octylbenzamide) as a radical leaving group was easily synthesized, and the RAFT polymerization of styrene with this CTA afforded poly(N-octylbenzamide)-block-polystyrene with controlled molecular weight and narrow polydispersity. Copyright © 2009 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  14. Synthesis and Characterization of Well-Defined Regular Star Polyisoprenes with 3, 4, 6 and 8 Arms

    KAUST Repository

    Ratkanthwar, Kedar R.

    2013-01-01

    Three series of regular well-defined star polyisoprenes (PIs) with 3, 4 and 6 arms (each series: same arm molecular weight) have been synthesized by anionic polymerization high vacuum techniques and chlorosilane chemistry. In addition, three linear PIs with practically the double arm molecular weight of the corresponding series (2-arm star PIs) have been synthesized, as well as one 8-arm star PI. All intermediate (arms) and final (stars) products have been characterized by size exclusion chromatography (SEC), SEC-multi-angle laser light scattering (SEC-MALLS) and nuclear magnetic resonance (NMR) spectroscopy. The Tg of the star PIs was determined by differential scanning calorimetry. These model polymeric materials are essential for polymer physics and polymer physical chemistry in order to establish the structure/property relationships.

  15. Well-defined and high resolution Pt nanowire arrays for a high performance hydrogen sensor by a surface scattering phenomenon.

    Science.gov (United States)

    Yoo, Hae-Wook; Cho, Soo-Yeon; Jeon, Hwan-Jin; Jung, Hee-Tae

    2015-02-03

    Developing hydrogen (H2) sensors with a high sensitivity, rapid response, long-term stability, and high throughput is one of the critical issues in energy and environmental technology [Hübert et al. Sens. Actuators, B 2011, 157, 329]. To date, H2 sensors have been mainly developed using palladium (Pd) as the channel material because of its high selectivity and strong affinity to the H2 molecule [(Xu et al. Appl. Phys. Lett. 2005, 86, 203104), (Offermans et al. Appl. Phys. Lett. 2009, 94, 223110), (Yang et al. Nano Lett. 2009, 9, 2177), (Yang et al. ACS Nano 2010, 4, 5233), and (Zou et al. Chem. Commun. 2012, 48, 1033)]. Despite significant progress in this area, Pd based H2 sensors suffer from fractures on their structure due to hydrogen adsorption induced volumetric swelling during the α → β phase transition, leading to poor long-term stability and reliability [(Favier et al. Science 2001, 293, 2227), (Walter et al. Microelectron. Eng. 2002, 61–62, 555), and (Walter et al. Anal. Chem. 2002, 74, 1546)]. In this study, we developed a platinum (Pt) nanostructure based H2 sensor that avoids the stability limitations of Pd based sensors. This sensor exhibited an excellent sensing performance, low limit of detection (LOD, 1 ppm), reproducibility, and good recovery behavior at room temperature. This Pt based H2 sensor relies on a highly periodic, small cross sectional dimension (10–40 nm) and a well-defined configuration of Pt nanowire arrays over a large area. The resistance of the Pt nanowire arrays significantly decreased upon exposure to H2 due to reduced electron scattering in the cross section of the hydrogen adsorbed Pt nanowires, as compared to the oxygen terminated original state. Therefore, these well-defined Pt nanowire arrays prepared using advanced lithographic techniques can facilitate the production of high performance H2 sensors.

  16. Well-defined block copolymers for gene delivery to dendritic cells: probing the effect of polycation chain-length.

    Science.gov (United States)

    Tang, Rupei; Palumbo, R Noelle; Nagarajan, Lakshmi; Krogstad, Emily; Wang, Chun

    2010-03-03

    The development of safe and efficient polymer carriers for DNA vaccine delivery requires mechanistic understanding of structure-function relationship of the polymer carriers and their interaction with antigen-presenting cells. Here we have synthesized a series of diblock copolymers with well-defined chain-length using atom transfer radical polymerization and characterized the influence of polycation chain-length on the physico-chemical properties of the polymer/DNA complexes as well as the interaction with dendritic cells. The copolymers consist of a hydrophilic poly(ethylene glycol) block and a cationic poly(aminoethyl methacrylate) (PAEM) block. The average degree of polymerization (DP) of the PAEM block was varied among 19, 39, and 75, with nearly uniform distribution. With increasing PAEM chain-length, polyplexes formed by the diblock copolymers and plasmid DNA had smaller average particle size and showed higher stability against electrostatic destabilization by salt and heparin. The polymers were not toxic to mouse dendritic cells (DCs) and only displayed chain-length-dependent toxicity at a high concentration (1mg/mL). In vitro gene transfection efficiency and polyplex uptake in DCs were also found to correlate with chain-length of the PAEM block with the longer polymer chain favoring transfection and cellular uptake. The polyplexes induced a modest up-regulation of surface markers for DC maturation that was not significantly dependent on PAEM chain-length. Finally, the polyplex prepared from the longest PAEM block (DP of 75) achieved an average of 20% enhancement over non-condensed anionic dextran in terms of uptake by DCs in the draining lymph nodes 24h after subcutaneous injection into mice. Insights gained from studying such structurally well-defined polymer carriers and their interaction with dendritic cells may contribute to improved design of practically useful DNA vaccine delivery systems. Copyright 2009 Elsevier B.V. All rights reserved.

  17. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders.

    Science.gov (United States)

    Elias, Peter M; Williams, Mary L; Feingold, Kenneth R

    2012-01-01

    Ichthyoses, including inherited disorders of lipid metabolism, display a permeability barrier abnormality in which the severity of the clinical phenotype parallels the prominence of the barrier defect. The pathogenesis of the cutaneous phenotype represents the consequences of the mutation for epidermal function, coupled with a "best attempt" by affected epidermis to generate a competent barrier in a terrestrial environment. A compromised barrier in normal epidermis triggers a vigorous set of metabolic responses that rapidly normalizes function, but ichthyotic epidermis, which is inherently compromised, only partially succeeds in this effort. Unraveling mechanisms that account for barrier dysfunction in the ichthyoses has identified multiple, subcellular, and biochemical processes that contribute to the clinical phenotype. Current treatment of the ichthyoses remains largely symptomatic: directed toward reducing scale or corrective gene therapy. Reducing scale is often minimally effective. Gene therapy is impeded by multiple pitfalls, including difficulties in transcutaneous drug delivery, high costs, and discomfort of injections. We have begun to use information about disease pathogenesis to identify novel, pathogenesis-based therapeutic strategies for the ichthyoses. The clinical phenotype often reflects not only a deficiency of pathway end product due to reduced-function mutations in key synthetic enzymes but often also accumulation of proximal, potentially toxic metabolites. As a result, depending upon the identified pathomechanism(s) for each disorder, the accompanying ichthyosis can be treated by topical provision of pathway product (eg, cholesterol), with or without a proximal enzyme inhibitor (eg, simvastatin), to block metabolite production. Among the disorders of distal cholesterol metabolism, the cutaneous phenotype in Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome) and X-linked ichthyosis reflect metabolite

  18. Abnormal barrier function in the pathogenesis of ichthyosis: Therapeutic implications for lipid metabolic disorders☆

    Science.gov (United States)

    Elias, Peter M.; Williams, Mary L.; Feingold, Kenneth R.

    2013-01-01

    Ichthyoses, including inherited disorders of lipid metabolism, display a permeability barrier abnormality in which the severity of the clinical phenotype parallels the prominence of the barrier defect. The pathogenesis of the cutaneous phenotype represents the consequences of the mutation for epidermal function, coupled with a “best attempt” by affected epidermis to generate a competent barrier in a terrestrial environment. A compromised barrier in normal epidermis triggers a vigorous set of metabolic responses that rapidly normalizes function, but ichthyotic epidermis, which is inherently compromised, only partially succeeds in this effort. Unraveling mechanisms that account for barrier dysfunction in the ichthyoses has identified multiple, subcellular, and biochemical processes that contribute to the clinical phenotype. Current treatment of the ichthyoses remains largely symptomatic: directed toward reducing scale or corrective gene therapy. Reducing scale is often minimally effective. Gene therapy is impeded by multiple pitfalls, including difficulties in transcutaneous drug delivery, high costs, and discomfort of injections. We have begun to use information about disease pathogenesis to identify novel, pathogenesis-based therapeutic strategies for the ichthyoses. The clinical phenotype often reflects not only a deficiency of pathway end product due to reduced-function mutations in key synthetic enzymes but often also accumulation of proximal, potentially toxic metabolites. As a result, depending upon the identified pathomechanism(s) for each disorder, the accompanying ichthyosis can be treated by topical provision of pathway product (eg, cholesterol), with or without a proximal enzyme inhibitor (eg, simvastatin), to block metabolite production. Among the disorders of distal cholesterol metabolism, the cutaneous phenotype in Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD syndrome) and X-linked ichthyosis reflect metabolite

  19. Well-defined Polymethylene-Based Co/Terpolymers by Combining Anthracene/Maleimide Diels-Alder Reaction with Polyhomologation

    KAUST Repository

    Hadjichristidis, Nikolaos

    2015-05-26

    A novel strategy towards well-defined polymethylene-based co/terpolymers, by combining anthracene/maleimide Diels-Alder reaction with polyhomologation, is presented. For the synthesis of diblock copolymers the following approach was applied: a) synthesis of α-anthracene-ω-hydroxy- polymethylene by polyhomologation using tri (9-anthracene-methyl propyl ether) borane as initiator, b) synthesis of furan-protected-maleimide-terminated poly (ε-caprolactone) or polyethylene glycol and c). Diels-Alder reaction between the anthracene and maleimide-terminated polymers. In the case of triblock terpolymers the α-anthracene-ω-hydroxy-polymethylene was used as macroinitiator for the ring-opening polymerization of D, L-lactide to afford an anthracene-terminated PM-b-PLA copolymer, followed by Diels-Alder reaction with furan-protected maleimide-terminated poly (ε-caprolactone) or polyethylene glycol to give the triblock terpolymers. All intermediate and final products were characterized by SEC, 1H NMR, UV-VIS spectroscopy and DSC.

  20. Well-defined triblock copolymers of polyethylene with polycaprolactone or polystyrene using a novel difunctional polyhomologation initiator

    KAUST Repository

    Hadjichristidis, Nikolaos

    2017-08-04

    α,ω-Dihydroxy polyethylene was synthesized by polyhomologation of dimethylsulfoxonium methylide with 9-thexyl-9-BBN (9-BNN: 9-Borabicyclo[3.3.1]nonane), a novel difunctional initiator produced from 9-BBN and 2,3-dimethylbut-2-ene, with two active and one blocked sites, followed by hydrolysis/oxidation. The terminal hydroxy groups were either used directly as initiators, in the presence of 1-tert-butyl-2,2,4,4,4-pentakis(dimethylamino)-2λ5,4λ5-catenadi(phosphazene) (t-BuP2), for the ring opening polymerization of ɛ-caprolactone to afford polycaprolactone-b-polyethylene-b-polycaprolactone (PCL-b-PE-b-PCL) or after transformation to atom transfer radical polymerization initiating sites, for the polymerization of styrene to produce polystyrene-b-polyethylene-b-polystyrene (PSt-b-PE-b-PSt) triblock copolymers. Molecular characterization by 11B, 13C and 1H NMR as well as FTIR, and high temperature GPC (HT-GPC) confirmed the well-defined nature of the synthesized new difunctional initiator and triblock copolymers. Differential scanning calorimetry was used to determine the melting points of PE and PCL.

  1. A New Synthetic Route to Microporous Silica with Well-Defined Pores by Replication of a Metal-Organic Framework.

    Science.gov (United States)

    Kondo, Atsushi; Hall, Anthony Shoji; Mallouk, Thomas E; Maeda, Kazuyuki

    2015-08-17

    Microporous amorphous hydrophobic silica materials with well-defined pores were synthesized by replication of the metal-organic framework (MOF) [Cu3 (1,3,5-benzenetricarboxylate)2 ] (HKUST-1). The silica replicas were obtained by using tetramethoxysilane or tetraethoxysilane as silica precursors and have a micro-meso binary pore system. The BET surface area, the micropore volume, and the mesopore volume of the silica replica, obtained by means of hydrothermal treatment at 423 K with tetraethoxysilane, are 620 m(2) g(-1) , 0.18 mL g(-1) , and 0.55 mL g(-1) , respectively. Interestingly, the silica has micropores with a pore size of 0.55 nm that corresponds to the pore-wall thickness of the template MOF. The silica replica is hydrophobic, as confirmed by adsorption analyses, although the replica has a certain amount of silanol groups. This hydrophobicity is due to the unique condensation environment of the silica precursors in the template MOF. © 2015 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  2. Syntheses and Post-Polymerization Modifications of Well-Defined Styrenic Polymers Containing Three-Membered Heterocyclic Functionalities

    Science.gov (United States)

    McLeod, David Charles

    Macromolecules that contain electrophilic moieties, such as benzyl halides, activated esters, and epoxides, will readily undergo efficient nucleophilic substitution reactions with a wide variety of compounds under mild conditions, and are therefore ideally suited to act as "universal" precursors to functional materials. Epoxide-containing polymers derived from the radical polymerization of commercially-available glycidyl methacrylate are often employed in this role; however, methacrylic polymers suffer from certain limitations as a result of the incorporated ester groups, which are not stabile in the presence of strong nucleophiles, acids, bases, or esterase enzymes. Styrenic polymers that do not contain labile carbonyl moieties are usually the precursors of choice when high chemical stability is desired in the end product, but the production of functional materials from epoxide-containing styrenic polymers is relatively unexplored. In this dissertation, improved methods were developed for synthesizing 4-vinylphenyloxirane (4VPO) and 4-vinylphenyl glycidyl ether (4VPGE), two of the better-known epoxide-containing styrenic monomers, in high-yield and purity. Well-defined, epoxide-containing styrenic polymers with targeted molecular weights, narrow molecular weight distributions, and controlled architectures (specifically, linear and star-shaped homopolymers, as well as linear block copolymers with styrene) were produced from 4VPO and 4VPGE for the first time using reversible-deactivation radical polymerization techniques, such as low-catalyst-concentration atom transfer radical polymerization (LCC ATRP) and reversible addition-fragmentation chain-transfer (RAFT) polymerization. The robust nature and utility of poly4VPO and poly4VPGE were then demonstrated by the efficient, ring-opening modification of the pendant epoxide groups with a structurally- and functionally-diverse array of alcohols under acidic conditions at ambient temperature. The macromolecular

  3. Synthesis and characterization of well-defined hydrogel matrices and their application to intestinal stem cell and organoid culture.

    Science.gov (United States)

    Gjorevski, Nikolce; Lutolf, Matthias P

    2017-11-01

    Growing cells within an extracellular matrix-like 3D gel is required for, or can improve, the growth of many cell types ex vivo. Here, we describe a protocol for the generation of well-defined matrices for the culture of intestinal stem cells (ISCs) and intestinal organoids. These matrices comprise a poly(ethylene glycol) (PEG) hydrogel backbone functionalized with minimal adhesion cues including RGD (Arg-Gly-Asp), which is sufficient for ISC expansion, and laminin-111, which is required for organoid formation. As such, the hydrogels present a defined and reproducible, but also tunable, environment, allowing researches to manipulate physical and chemical parameters, and examine their influence on ISC and organoid growth. Hydrogels are formed by an enzymatic cross-linking reaction of multiarm PEG precursors bearing glutamine- and lysine-containing peptides. PEG precursors containing either stable or hydrolytically degradable moieties are used to produce mechanically softening hydrogels, which are used for the expansion of ISCs or the formation of organoids, respectively. We also provide protocols for immunofluorescence analysis of cellular structures grown within these matrices, as well as for their dissociation and retrieval of cells for downstream use. Hydrogel precursors can be produced and their mechanical properties characterized to ascertain stiffness within 5-7 d. Hydrogel formation for ISC expansion or organoid formation takes 1-2 h. The materials described here can be readily adapted for the culture of other types of normal or transformed organoid structures.

  4. Deletion of exons 1-5 of the STS gene causing X-linked ichthyosis.

    Science.gov (United States)

    Valdes-Flores, M; Kofman-Alfaro, S H; Vaca, A L; Cuevas-Covarrubias, S A

    2001-03-01

    X-linked ichthyosis is an inherited disorder due to steroid sulfatase deficiency. It is clinically characterized by dark, adhesive, and regular scales of the skin. Most X-linked ichthyosis patients present large deletions of the STS gene and flanking markers; a minority show a point mutation or partial deletion of the STS gene. In this study we analyzed the STS gene in a family with simultaneous occurrence of X-linked ichthyosis and ichthyosis vulgaris. X-linked ichthyosis diagnosis was confirmed through steroid sulfatase assay in leukocytes using 7-[3H]-dehydroepiandrosterone sulfate as a substrate. Exons 1, 2, 5, and 6-10, and the 5' flanking markers DXS1130, DXS1139, and DXS996 of the STS gene were analyzed by polymerase chain reaction. X-linked ichthyosis patients of the family (n = 4 males) had undetectable levels of STS activity (0.00 pmol per mg protein per h). The DNA analysis showed that only exons 6-10 and the 5' flanking markers of the STS gene were present. We report the first partial deletion of the STS gene spanning exons 1-5 in X-linked ichthyosis patients.

  5. Ichthyosis associated with rickets in two Indian children

    Directory of Open Access Journals (Sweden)

    Dimple Kothari

    2013-01-01

    Full Text Available We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with thickening and scaling of skin, suggestive of epidermolytic hyperkeratosis, and the second is of a 14-year-old female with thick, large, quadrilateral scales over the extremities and back clinically consistent with lamellar ichthyosis. Both showed improvement with parenteral vitamin D3 and oral calcium supplements in addition to topical emollients.

  6. Well-Defined Bilayered Molecular Cobrushes with Internal Polyethylene Blocks and ω-Hydroxyl-Functionalized Polyethylene Homobrushes

    KAUST Repository

    Zhang, Hefeng

    2016-02-15

    Novel well-defined bilayered molecular cobrushes with internal polyethylene blocks, P(PEcore-b-PScorona) (PE: polyethylene; PS: polystyrene), and ω-hydroxyl-functionalized polyethylene homobrushes, P(PE-OH), were synthesized through the macromonomer strategy. Two main steps were involved in the synthesis of the P(PEcore-b-PScorona) bilayered cobrushes: (i) formation of norbornyl-terminated macromonomer (Nor-PE-b-PS) by esterification of PS-b-PE-OH (combination of anionic polymerization, hydroboration, and polyhomologation) with 5-norbornene-2-carboxylic acid and (ii) ring-opening metathesis polymerization (ROMP) of Nor-PE-b-PS. The synthesis of P(PE-OH) was achieved by (i) hydroboration of tert-butyldimethylsilyl-protected allyl alcohol, followed by polyhomologation of dimethylsulfoxoniun methylide with the formed tri[3-(tert-butyldimethylsilyloxyl)propyl]borane initiator, oxidation/hydrolysis, and esterification of the TBDMS-O-PE-OH with 5-norbornene-2-carboxylic acid to afford the macromonomer TBDMS-O-PE-Nor, and (ii) ROMP of TBDMS-O-PE-Nor, followed by deprotection. Nuclear magnetic resonance spectroscopy (1H and 13C NMR) and high temperature gel permeation chromatography (HT-GPC) were used to characterize all macromonomers/molecular brushes and differential scanning calorimetry (DSC) to study the thermal properties. The molecular brush P(PE-b-PS) showed lower melting point (Tm) and better solubility in toluene than the corresponding macromonomer PS-b-PE-Nor. In the case of homobrushes, the thermal properties were strongly affected by the presence of the PE end-groups. © 2016 American Chemical Society.

  7. Optimization of the alpha image reconstruction - an iterative CT-image reconstruction with well-defined image quality metrics.

    Science.gov (United States)

    Lebedev, Sergej; Sawall, Stefan; Knaup, Michael; Kachelrieß, Marc

    2017-09-01

    Optimization of the AIR-algorithm for improved convergence and performance. The AIR method is an iterative algorithm for CT image reconstruction. As a result of its linearity with respect to the basis images, the AIR algorithm possesses well defined, regular image quality metrics, e.g. point spread function (PSF) or modulation transfer function (MTF), unlike other iterative reconstruction algorithms. The AIR algorithm computes weighting images α to blend between a set of basis images that preferably have mutually exclusive properties, e.g. high spatial resolution or low noise. The optimized algorithm uses an approach that alternates between the optimization of rawdata fidelity using an OSSART like update and regularization using gradient descent, as opposed to the initially proposed AIR using a straightforward gradient descent implementation. A regularization strength for a given task is chosen by formulating a requirement for the noise reduction and checking whether it is fulfilled for different regularization strengths, while monitoring the spatial resolution using the voxel-wise defined modulation transfer function for the AIR image. The optimized algorithm computes similar images in a shorter time compared to the initial gradient descent implementation of AIR. The result can be influenced by multiple parameters that can be narrowed down to a relatively simple framework to compute high quality images. The AIR images, for instance, can have at least a 50% lower noise level compared to the sharpest basis image, while the spatial resolution is mostly maintained. The optimization improves performance by a factor of 6, while maintaining image quality. Furthermore, it was demonstrated that the spatial resolution for AIR can be determined using regular image quality metrics, given smooth weighting images. This is not possible for other iterative reconstructions as a result of their non linearity. A simple set of parameters for the algorithm is discussed that provides

  8. Optimization of the alpha image reconstruction. An iterative CT-image reconstruction with well-defined image quality metrics

    Energy Technology Data Exchange (ETDEWEB)

    Lebedev, Sergej; Sawall, Stefan; Knaup, Michael; Kachelriess, Marc [German Cancer Research Center, Heidelberg (Germany).

    2017-10-01

    Optimization of the AIR-algorithm for improved convergence and performance. TThe AIR method is an iterative algorithm for CT image reconstruction. As a result of its linearity with respect to the basis images, the AIR algorithm possesses well defined, regular image quality metrics, e.g. point spread function (PSF) or modulation transfer function (MTF), unlike other iterative reconstruction algorithms. The AIR algorithm computes weighting images α to blend between a set of basis images that preferably have mutually exclusive properties, e.g. high spatial resolution or low noise. The optimized algorithm uses an approach that alternates between the optimization of rawdata fidelity using an OSSART like update and regularization using gradient descent, as opposed to the initially proposed AIR using a straightforward gradient descent implementation. A regularization strength for a given task is chosen by formulating a requirement for the noise reduction and checking whether it is fulfilled for different regularization strengths, while monitoring the spatial resolution using the voxel-wise defined modulation transfer function for the AIR image. The optimized algorithm computes similar images in a shorter time compared to the initial gradient descent implementation of AIR. The result can be influenced by multiple parameters that can be narrowed down to a relatively simple framework to compute high quality images. The AIR images, for instance, can have at least a 50% lower noise level compared to the sharpest basis image, while the spatial resolution is mostly maintained. The optimization improves performance by a factor of 6, while maintaining image quality. Furthermore, it was demonstrated that the spatial resolution for AIR can be determined using regular image quality metrics, given smooth weighting images. This is not possible for other iterative reconstructions as a result of their non linearity. A simple set of parameters for the algorithm is discussed that provides

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

    Directory of Open Access Journals (Sweden)

    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.

  10. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples.

    Science.gov (United States)

    Vallespín, Elena; Palomares Bralo, María; Mori, M Ángeles; Martín, Rubén; García-Miñaúr, Sixto; Fernández, Luis; de Torres, M Luisa; García-Santiago, Fe; Mansilla, Elena; Santos, Fernando; M-Montaño, Victoria E; Crespo, M Carmen; Martín, Sol; Martínez-Glez, Victor; Delicado, Alicia; Lapunzina, Pablo; Nevado, Julián

    2013-08-01

    High-resolution array comparative genomic hybridization (aCGH) is a powerful molecular cytogenetic tool that is being adopted for diagnostic evaluation of genomic imbalances and study disease mechanisms and pathogenesis. We report on the design and use, of a custom whole-genome oligonucleotide-based array (called KaryoArray®v3.0; Agilent-based 8 × 60 K) for diagnostic setting, which was able to detect new and unexpected rearrangements in 11/63 (~17.5%) of previous known pathological cases associated with known genetic disorders, and in the second step it identified at least one causal genomic imbalance responsible of the phenotype in ~20% of patients with psychomotor development delay and/or intellectual disability. To validate the array, first; we blindly tested 120 samples; 63 genomic imbalances that had previously been detected by karyotyping, FISH and/or MLPA, and 57 sex-matched control samples from healthy individuals; secondly a prospective study of 540 patients with intellectual disabilities, autism spectrum disorder and multiple congenital anomalies were evaluated to confirm the utility of the tool. These data indicate that implementation of array technologies as the first-tier test may reveal that additional genomic imbalances could co-exist in patients with trisomies and classical del/dup syndromes, suggesting that aCGH may also be indicated in these individuals, at least when phenotype does not match completely with genotype. Copyright © 2013 Wiley Periodicals, Inc.

  11. Surface modification with well-defined biocompatible triblock copolymers Improvement of biointerfacial phenomena on a poly(dimethylsiloxane) surface.

    Science.gov (United States)

    Iwasaki, Yasuhiko; Takamiya, Mika; Iwata, Ryoko; Yusa, Shin-Ichi; Akiyoshi, Kazunari

    2007-06-15

    To improve interfacial phenomena of poly(dimethylsiloxane) (PDMS) as biomaterials, well-defined triblock copolymers were prepared as coating materials by reversible addition-fragmentation chain transfer (RAFT) controlled polymerization. Hydroxy-terminated poly(vinylmethylsiloxane-co-dimethylsiloxane) (HO-PV(l)D(m)MS-OH) was synthesized by ring-opening polymerization. The copolymerization ratio of vinylmethylsiloxane to dimethylsiloxane was 1/9. The molecular weight of HO-PV(l)D(m)MS-OH ranged from (1.43 to 4.44)x10(4), and their molecular weight distribution (M(w)/M(n)) as determined by size-exclusion chromatography equipped with multiangle laser light scattering (SEC-MALS) was 1.16. 4-Cyanopentanoic acid dithiobenzoate was reacted with HO-PV(l)D(m)MS-OH to obtain macromolecular chain transfer agents (macro-CTA). 2-Methacryloyloxyethyl phosphorylcholine (MPC) was polymerized with macro-CTAs. The gel-permeation chromatography (GPC) chart of synthesized polymers was a single peak and M(w)/M(n) was relatively narrow (1.3-1.6). Then the poly(MPC) (PMPC)-PV(l)D(m)MS-PMPC triblock copolymers were synthesized. The molecular weight of PMPC in a triblock copolymer was easily controllable by changing the polymerization time or the composition of the macro-CTA to a monomer in the feed. The synthesized block copolymers were slightly soluble in water and extremely soluble in ethanol and 2-propanol. Surface modification was performed via hydrosilylation. The block copolymer was coated on the PDMS film whose surface was pretreated with poly(hydromethylsiloxane). The surface wettability and lubrication of the PDMS film were effectively improved by immobilization with the block copolymers. In addition, the number of adherent platelets from human platelet-rich plasma (PRP) was dramatically reduced by surface modification. Particularly, the triblock copolymer having a high composition ratio of MPC units to silicone units was effective in improving the surface properties of PDMS. By

  12. Ichthyosis: the skin manifestation of multiple sulfatase deficiency.

    Science.gov (United States)

    Castaño Suárez, E; Segurado Rodríguez, A; Guerra Tapia, A; Simón de las Heras, R; López-Ríos, F; Coll Rosell, M J

    1997-01-01

    Juvenile sulfatidosis (Austin type) or multiple sulfatase deficiency is an extremely rare autosomal recessive disorder affecting the activity of many sulfatases: arylsulfatase A, several mucopolysaccharide sulfatases, and steroid sulfatase. Certain aspects of the clinical phenotype can be attributed mainly to a deficiency of one specific sulfatase. Most patients develop metachromatic leukodystrophy caused by arylsulfatase A deficiency, dysostosis multiplex by mucopolysaccharide sulfatase deficiency, and ichthyotic skin by steroid sulfatase deficiency. We describe a 7-year-old boy with developmental delay from 7 months of age, progressive spastic quadriparesis, and coarse facial features. By 27 months of age, an ichthyotic rash had developed on the limbs, trunk, and scalp. A skin biopsy specimen revealed hyperkeratosis with a normal granular layer. The diagnosis of multiple sulfatase deficiency was demonstrated by measuring sulfatase activities in fresh leukocytes: there were large deficiencies of arylsulfatase A and B plus reduced arylsulfatase C. The ichthyosis associated with multiple sulfatase deficiency has an autosomal recessive inheritance, is caused by steroid sulfatase deficiency, and the scaling is sometimes milder than in X-linked recessive ichthyosis. This could reflect the residual activity of steroid sulfatase in some cases.

  13. Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Kalinska-Bienias, Agnieszka; Pollak, Agnieszka; Kowalewski, Cezary; Lechowicz, Urszula; Stawinski, Piotr; Gergont, Aleksandra; Kosinska, Joanna; Pronicka, Ewa; Kowalski, Pawel; Wozniak, Katarzyna; Ploski, Rafal

    2017-09-25

    Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother. LHON causes frequent inherited blindness typically appearing during young adult life whose expression can be triggered by additional factors such as smoking or alcohol exposure. We speculate the effects of KRT10 and LHON mutations influence each other-skin inflammatory reaction due to severe ichthyosis might trigger the development of psychoneurological abnormalities whereas the mitochondrial mutation may reduce revertant mosaicism phenomenon resulting in the lack of confetti-like spots characteristic for IWC. However, based on a single case we should be cautious about attributing phenotypes to digenic mechanisms without functional data. © 2017 Wiley Periodicals, Inc.

  14. Clinical Observation of a Child with KID (Keratitis-Ichthyosis-Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    V.A. Klymenko

    2015-10-01

    Full Text Available A clinical case of keratitis-ichthyosis-deafness (KID syndrome in an infant is described. The article familia-rizes pediatricians and family doctors with difficulties in the diagnosis of this rare genetic disease in infants.

  15. X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

    Science.gov (United States)

    Malik, Amna; Amer, Ahmed Bait; Salama, Mohammed; Haddad, Bander; Alrifai, Muhammad T; Balwi, Mohammed Al; Davies, William; Eyaid, Wafaa

    2017-09-22

    X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). We report the case of an 11-year-old Saudi Arabian boy with X-linked ichthyosis associated with psychosis, mental retardation, autism spectrum disorder, inattentive attention deficit hyperactivity disorder, and epilepsy. Genetic analysis revealed a 1.68 Mb deletion encompassing STS in 95% of cells while biochemical analysis revealed correspondingly low steroid sulfatase activity consistent with a diagnosis of X-linked ichthyosis. The psychotic symptoms could be reasonably well controlled by administration of an atypical antipsychotic. This report describes a case of comorbid X-linked ichthyosis and psychosis (most closely corresponding to early-onset schizophrenia) for the first time, and suggests that deficiency for steroid sulfatase and contiguous genes may increase vulnerability to psychosis as well as other psychological disorders.

  16. The detection of steroid sulfatase gene deletion (STS) in Egyptian males with X-linked ichthyosis.

    Science.gov (United States)

    Abdel-Hamed, Mahmoud F; Hussein, Hassan A; Helmy, Nivine A; Elsaie, Mohamed L

    2010-10-01

    Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persistent scales resulting from abnormal epidermal differentiation or metabolism. The identification of steroid sulfatase (STS) as the cause of X-linked ichthyosis (XLI) points to the importance of this enzyme in skin desquamation. Fluorescent in situ hybridization (FISH) analysis is a good diagnostic technique with which to detect a common deletion of the STS gene. In this study, the authors set out to detect the X-linked type of ichthyosis, diagnosed by detection of STS gene deletions among Egyptian males. Egyptian males complaining of X-linked ichthyosis were clinically examined, evaluating pedigree analysis of the family, cytogenetic studies using G-banding technique and FISH using locus specific probe for steroid sulfatase (STS) gene which is located at chromosome Xp22.3. Of patients, 11.11 percent had nocturnal enuresis and 33.33 percent showed STS gene deletion by FISH analysis. This study underlines a difficulty in diagnosing X-linked ichthyosis on the clinical features or familial pedigree analysis in Egypt and the importance of cytogenetic and molecular cytogenetic studies for diagnosis. FISH analysis is a good, reliable and rapid diagnostic tool with which to detect STS gene deletion. Since FISH will not detect partial deletion or point mutations, the authors recommend further molecular studies to reach the proper diagnosis of X-linked ichthyosis.

  17. Macromolecular Engineering: New Routes Towards the Synthesis of Well-??Defined Polyethers/Polyesters Co/Terpolymers with Different Architectures

    KAUST Repository

    Alamri, Haleema

    2016-05-18

    The primary objective of this research was to develop a new and efficient pathway for well-defined multicomponent homo/co/terpolymers of cyclic esters/ethers using an organocatalytic approach with an emphasis on the macromolecular engineering aspects of the overall synthesis. Macromolecular engineering (as discussed in the first chapter) of homo/copolymers refers to the specific tailoring of these materials for achieving an easy and reproducible synthesis that results in precise molecular characteristics, i.e. molecular weight and polydispersity, as well as specific structure and end?group choices. Precise control of these molecular characteristics will provide access to new materials that can be used for pre-targeted purposes such as biomedical applications. Among the most commonly used engineering materials are polyesters (biocompatible and biodegradable) and polyethers (biocompatible), either as homopolymers or when or copolymers with linear structures. The ability to create non-linear structures, for example stars, will open new horizons in the applications of these important polymeric materials. The second part of this thesis describes the synthesis of aliphatic polyesters, particularly polycaprolactone and polylactide, using a metal-free initiator/catalyst system. A phosphazene base (t?BuP2) was used as the catalyst for the ring-opening copolymerization of ?-aprolactone (??CL) and L,Lactide (LLA) at room temperature with a variety of protic initiators in different solvents. These studies provided important information for the design of a metal-free route toward the synthesis of polyester?based (bio) materials. The third part of the thesis describes a novel route for the one?pot synthesis of polyether-b polyester block copolymers with either a linear or a specific macromolecular architecture. Poly (styrene oxide)?b?poly(caprolactone)?b?poly(L,lactide) was prepared using this method with the goal of synthesizing poly(styrene oxide)-based materials since this

  18. A Topic Diathesis In Hereditary Ichthyosis Patients Attending A Tertiary Health Care Center In Saudi Arabia

    Directory of Open Access Journals (Sweden)

    Al-Akloby Omar M Al-Amro

    2004-01-01

    Full Text Available The occurrence of atopic diathesis in hereditary ichthyosis (HI has not been documented in Saudi patients. The atopic manifestations in histopathologically confirmed HI patients attending the dermatology clinic of king Fahad Hospital of the University at Al-Khobar city, Saudi Arabia is discussed in this study. From the dermatology OPD logbook, all Saudi patients with confirmed HI seen between January 1990 to December 1995 were included in the study. The findings regarding atopic manifestations were extracted into data collection forms and analyzed. During the 5 year study period, 10,455 new cases were seen in our dermatology OPD. Of these, 61 had hereditary icthyosis, with 37 males and 24 females with a male to female ratio of 1.5:1. Thus, the frequency of HI among Saudi hospital attendees was 6 per 1000 new cases. The type of HI was ichthyosis vulgaris in 25 (41% patients, X-linked recessive ichthyosis in 11 (18%, lamellar ichthyosis in 4(7%, bullous ichthyosiform erythroderma in 2 (3% and nonbullous ichthyosiform erythroderma was seen in 19 (31%. Generalized pruritus was present in 49 (80% cases, atopic dermatitis in , elevated serum IgE level was noted in 27 and bronchial asthma in 3 cases. Dandruff was reported in 24 cases, keratosis pilaris in15, recurrent skin infection in 7. Combination of hereditary ichthyosis, generalized pruritus and high serum IGE level was reported in 27 (44.3% patient.

  19. Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.

    Science.gov (United States)

    Cuevas-Covarrubias, S A; Valdes-Flores, M; Orozco Orozco, E; Díaz-Zagoya, J C; Kofman-Alfaro, S H

    1999-03-01

    X-linked ichthyosis is an inherited disease with dark, regular and adherent scales as clinical characteristics. It is caused by a deficiency of the steroid sulphatase enzyme. Steroid sulphatase assay is a relative easy tool that enables correct diagnosis of X-linked ichthyosis patients and carriers. A large number of X-linked ichthyosis patients correspond to non-familial cases that seem to represent de novo mutations. In this study, we examined the X-linked ichthyosis carrier state of the mothers of 42 non-familial cases to determine whether their children corresponded to de novo mutations. To classify patients and carriers, a steroid sulphatase assay was performed in leukocytes using 7-[3H]-dehydroepiandrosterone sulphate as substrate. In 36 mothers (85%) we found steroid sulphatase activity compatible with the carrier state of X-linked ichthyosis. This data suggest that most of the mothers of these patients present the primary gene defect, excluding de novo mutations in the patients.

  20. Congenital Hypothyroidism

    Science.gov (United States)

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

  1. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  2. A well-defined silica-supported aluminium alkyl through an unprecedented, consecutive two-step protonolysis–alkyl transfer mechanism

    KAUST Repository

    Pelletier, Jérémie

    2011-01-01

    Impregnation of [(AliBu3)(Et2O)] on partially dehydroxylated SBA-15 affords a mesoporous material bearing the well-defined single site surface aluminium species [(≡SiO)2Al(iBu)(Et 2O)]. © The Royal Society of Chemistry.

  3. Detection of Steroid Sulfatase Gene Deletion

    African Journals Online (AJOL)

    rme

    Cytogenetics, Human Genetics and Genome Research Unit, National Research. Centre, Cairo, Egypt. Introduction: Ichthyosis is a ... major types, ichthyosis vulgaris, X-Linked ichthyosis, congenital recessive ichthyosis and lastly epidermolytic ... autosomal dominant ichthyosis vulgaris, clinical and histologic differences exist.

  4. Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2016-07-01

    Full Text Available Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect. Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.

  5. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis.

    Science.gov (United States)

    Liao, Haihui; Waters, Alex J; Goudie, David R; Aitken, David A; Graham, Gordon; Smith, Frances J D; Lewis-Jones, Sue; McLean, W H Irwin

    2007-12-01

    Mutations inactivating the STS gene cause X-linked ichthyosis (XLI), whereas null mutations in the FLG gene cause ichthyosis vulgaris. Two brothers presented with XLI. One had a typical fine scaling, and the other was much more severely affected. Both patients carried STS missense mutation T165I. Furthermore, the more severely affected patient also carried heterozygous FLG mutation R501X, which was absent from his mildly affected brother. These data suggest that disrupting epidermal differentiation via different pathways can increase phenotypic severity. Owing to the high population frequency of FLG mutations, filaggrin is a possible genetic modifier in other genodermatoses.

  6. Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.

    Science.gov (United States)

    Krishnamurthy, Sriram; Kapoor, Seema; Yadav, Sangeeta

    2007-04-01

    We describe a 10-year-old boy with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis who presented with nephrotic syndrome. DNA analysis revealed deletion of the Steroid Sulfatase (STS) gene. STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. Since the slit diaphragm of the glomerular epithelial cell is a modified adherens junction, the accumulation of cholesterol sulfate could interfere with the normal slit diaphragm function of the glomerular visceral epithelial cell, resulting in nephrotic range proteinuria. The child went into remission on oral prednisolone.

  7. Expanding the Mutation Spectrum of Ichthyosis with Confetti.

    Science.gov (United States)

    Lim, Young H; Choate, Keith A

    2016-10-01

    Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  8. Lamellar ichthyosis maps to chromosome 14q11

    Energy Technology Data Exchange (ETDEWEB)

    Russell, L.J.; Compton, J.G.; Bale, S.J. [and others

    1994-09-01

    Lamellar ichthyosis (LI) is a serious skin disorder inherited as an autosomal recessive trait and characterized by large, brown plate-like scales covering the body. Skin involvement is apparent at birth, often as a collodion membrane. Scarring alopecia, ectropion, and secondary hypohidrosis are frequent. We used a panel of candidates genes that are expressed in the epidermis to study seven multiplex Caucasian families in the U.S. and six inbred (multiplex and simplex) families in Egypt. We find no recombination (Z=9.11 at {theta}=0) in either set of families with transglutaminse 1 (TGM1), the gene encoding the enzyme responsible for cross-linking proteins to the cell envelope in the upper-most layer of the epidermis. In addition, striking homozygosity is observed in the inbred families for markers neighboring TGM1, defining a 9.3 cM candidate region which is bounded by MYH7 and D14S275. This is the first report of linkage in LI and suggests that further study of the TGM1 gene may identify the underlying pathogenesis of this severe, disfiguring disorder. Linkage-based genetic counseling and prenatal diagnosis is now available for informative at-risk families.

  9. A Simple and Universal Gel Permeation Chromatography Technique for Precise Molecular Weight Characterization of Well-Defined Poly(ionic liquid)s

    Energy Technology Data Exchange (ETDEWEB)

    He, Hongkun; Zhong, Mingjiang; Adzima, Brian; Luebke, David; Nulwala, Hunaid; Matyjaszewski, Krzysztof

    2013-03-20

    Poly(ionic liquid)s (PILs) are an important class of technologically relevant materials. However, characterization of well-defined polyionic materials remains a challenge. Herein, we have developed a simple and versatile gel permeation chromatography (GPC) methodology for molecular weight (MW) characterization of PILs with a variety of anions. PILs with narrow MW distributions were synthesized via atom transfer radical polymerization, and the MWs obtained from GPC were further confirmed via nuclear magnetic resonance end group analysis.

  10. PHEA-g-PMMA Well-Defined Graft Copolymer: ATRP Synthesis, Self-Assembly, and Synchronous Encapsulation of Both Hydrophobic and Hydrophilic Guest Molecules.

    Science.gov (United States)

    Ding, Aishun; Xu, Jie; Gu, Guangxin; Lu, Guolin; Huang, Xiaoyu

    2017-10-03

    A series of well-defined amphiphilic graft copolymer bearing a hydrophilic poly(2-hydroxyethyl acrylate) (PHEA) backbone and hydrophobic poly(methyl methacrylate) (PMMA) side chains was synthesized by successive reversible addition-fragmentation chain transfer (RAFT) polymerization and atom transfer radical polymerization (ATRP) through the grafting-from strategy. A well-defined PHEA-based backbone with Cl-containing ATRP initiating group in every repeated unit (M w /M n  = 1.08), poly(2-hydroxyethyl 2-((2-chloropropanoyloxy)methyl)acrylate) (PHECPMA), was first prepared by RAFT homopolymerization of 2-hydroxyethyl 2-((2-chloropropanoyloxy)methyl)acrylate (HECPMA), a Cl-containing trifunctional acrylate. ATRP of methyl methacrylate was subsequently initiated by PHECPMA homopolymer to afford the target well-defined poly(2-hydroxyethyl acrylate)-graft-poly(methyl methacrylate) (PHEA-g-PMMA) graft copolymers (M w /M n  ≤ 1.36) with 34 PMMA side chains and 34 pendant hydroxyls in PHEA backbone using CuCl/dHbpy as catalytic system. The critical micelle concentration (cmc) of the obtained graft copolymer was determined by fluorescence spectroscopy using N-phenyl-1-naphthylamine as probe while micellar morphologies in aqueous media were visualized by transmission electron microscopy. Interestingly, PHEA-g-PMMA graft copolymer could self-assemble into large compound micelles rather than common spherical micelles, which can encapsulate hydrophilic rhodamine 6 G and hydrophobic pyrene separately or simultaneously.

  11. Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.

    Science.gov (United States)

    Ferrari, Bruno; Morita, Lucila; Choate, Keith; Hu, Rong-Hua

    2017-02-15

    IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. We present a patient with characteristic clinical features and a mutation not previously reported.

  12. Skin barrier properties in patients with recessive X-linked ichthyosis

    DEFF Research Database (Denmark)

    Johansen, J D; Ramsing, D; Vejlsgaard, G

    1995-01-01

    Patients with X-linked recessive ichthyosis (RXLI) were studied as a model of the effect of disturbed epidermal lipid composition on skin barrier function. Thirteen patients with RXLI and 15 age- and sex-matched controls were patch-tested with sodium lauryl sulphate (SLS) 0.5% for 24 h. Basal ski...

  13. Short- and medium-term efficacy of specific hydrotherapy in inherited ichthyosis.

    Science.gov (United States)

    Bodemer, C; Bourrat, E; Mazereeuw-Hautier, J; Boralevi, F; Barbarot, S; Bessis, D; Blanchet-Bardon, C; Bourdon-Lanoy, E; Stalder, J-F; Ribet, V; Guerrero, D; Sibaud, V

    2011-11-01

    Management of inherited ichthyoses is symptomatic. Despite treatment, skin symptoms have a major impact on patients' quality of life (QoL). To assess the short- and medium-term efficacy of hydrotherapy on QoL and clinical symptoms of patients with inherited ichthyosis. In this 9-month prospective, open-label, multicentre study, 20 children and 24 adults with ichthyosis were enrolled in several French reference and competence centres, 2 months before undergoing a 3-week treatment with specific hydrotherapeutic management at Avène Hydrotherapy Centre. At baseline (2 months before hydrotherapy), beginning (D0) and end of hydrotherapy (D18), and 3 and 6 months later at the reference and competence centres, patients self-assessed QoL using the Dermatology Life Quality Index (DLQI) or its paediatric version (Children's DLQI), and investigators evaluated ichthyosis severity using a specific clinical ichthyosis score. The DLQI scores were significantly improved not only at the end of the hydrotherapy treatment (-56% vs. baseline; mean ± SD 3·59 ± 4·30 at D18 vs. 8·35 ± 5·71 at D0; P hydrotherapy (-26% vs. baseline; mean ± SD 5·21 ± 5·11 vs. 6·89 ± 5·38; P = 0·03) (primary criterion). Clinical symptoms were also significantly improved at all post-treatment visits, with a decrease of the mean clinical ichthyosis score by -38% between D0 and D18, by -30% at 3 months and by -31% at 6 months vs. baseline. A 3-week treatment at Avène Hydrotherapy Centre provided significant and persisting improvement of QoL and clinical symptoms in patients with inherited ichthyoses. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  14. A well-defined Pd hybrid material for the Z-selective semihydrogenation of alkynes characterized at the molecular level by DNP SENS.

    Science.gov (United States)

    Conley, Matthew P; Drost, Ruben M; Baffert, Mathieu; Gajan, David; Elsevier, Cornelis; Franks, W Trent; Oschkinat, Hartmut; Veyre, Laurent; Zagdoun, Alexandre; Rossini, Aaron; Lelli, Moreno; Lesage, Anne; Casano, Gilles; Ouari, Olivier; Tordo, Paul; Emsley, Lyndon; Copéret, Christophe; Thieuleux, Chloé

    2013-09-09

    Direct evidence of the conformation of a Pd-N heterocyclic carbene (NHC) moiety imbedded in a hybrid material and of the Pd-NHC bond were obtained by dynamic nuclear polarization surface-enhanced NMR spectroscopy (DNP SENS) at natural abundance in short experimental times (hours). Overall, this silica-based hybrid material containing well-defined Pd-NHC sites in a uniform environment displays high activity and selectivity in the semihydrogenation of alkynes into Z-alkenes (see figure). Copyright © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  15. A combined UHV-STM-flow cell set-up for electrochemical/electrocatalytic studies of structurally well-defined UHV prepared model electrodes

    DEFF Research Database (Denmark)

    Schnaidt, J.; Beckord, S.; Engstfeld, Albert Kilian

    2017-01-01

    We describe the construction and discuss the performance of a novel combined ultrahigh vacuum (UHV)-electrochemistry set-up, allowing the controlled preparation and structural characterization of complex nanostructured electrode surfaces by high resolution scanning tunnelling microscopy (STM) under...... collector electrode or by differential electrochemical mass spectrometry (DEMS). The potential of the set-up will be illustrated in two electrocatalytic reactions on complex, but structurally well-defined bimetallic electrode surfaces, O-2 reduction on PtxAg1-x/Pt(111) monolayer surface alloys and bulk CO...

  16. In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report

    National Research Council Canada - National Science Library

    Hui Shi; Xiao-feng Qi; Tao-tao Liu; Qian Hao; Xiao-hong Li; Ling-ling Liang; Yi-miao Wang; Zhi-hua Cui

    2017-01-01

    ...) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings...

  17. Unearthing a Well-Defined Highly Active Bimetallic W/Ti Precatalyst Anchored on a Single Silica Surface for Metathesis of Propane

    KAUST Repository

    Samantaray, Manoja

    2017-02-10

    Two compatible organometallic complexes, W(Me)(6) (1) and TiNp4 (2), were successively anchored on a highly dehydroxylated single silica support (SiO2-700) to synthesize the well-defined bimetallic precatalyst [(equivalent to Si-O-)W(Me)(5)(equivalent to Si-O-)Ti(Np)(3)] (4). Precatalyst 4 was characterized at the molecular level using advanced surface organometallic chemistry (SOMC) characterization techniques. The strong autocorrelation observed between methyl of W and Ti in H-1-H-1 multiple-quantum NMR spectra demonstrates that W and Ti species are in close proximity to each other. The bimetallic precatalyst 4, with a turnover number (TON) of 9784, proved to be significantly more efficient than the silica-supported monometallic catalyst [(equivalent to Si-O-)W(Me)(5)] (3), with a TON of 98, for propane metathesis at 150 degrees C in a flow reactor. The dramatic improvement in the activity signifies the cooperativity between Ti and W and indicates that the key step of alkane metathesis (C-H bond activation followed by beta-H elimination) occurs on Ti, followed by olefin metathesis, which occurs on W. We have demonstrated the influence and importance of proximity of Ti to W for achieving such a significantly high activity. This is the first report demonstrating the considerably high activity (TON = 9784) in propane metathesis at moderate temperature (150 degrees C) using a well-defined bimetallic system prepared via the SOMC approach.

  18. Unearthing a Well-Defined Highly Active Bimetallic W/Ti Precatalyst Anchored on a Single Silica Surface for Metathesis of Propane.

    Science.gov (United States)

    Samantaray, Manoja K; Kavitake, Santosh; Morlanés, Natalia; Abou-Hamad, Edy; Hamieh, Ali; Dey, Raju; Basset, Jean-Marie

    2017-03-08

    Two compatible organometallic complexes, W(Me)6 (1) and TiNp4 (2), were successively anchored on a highly dehydroxylated single silica support (SiO2-700) to synthesize the well-defined bimetallic precatalyst [(≡Si-O-)W(Me)5(≡Si-O-)Ti(Np)3] (4). Precatalyst 4 was characterized at the molecular level using advanced surface organometallic chemistry (SOMC) characterization techniques. The strong autocorrelation observed between methyl of W and Ti in (1)H-(1)H multiple-quantum NMR spectra demonstrates that W and Ti species are in close proximity to each other. The bimetallic precatalyst 4, with a turnover number (TON) of 9784, proved to be significantly more efficient than the silica-supported monometallic catalyst [(≡Si-O-)W(Me)5] (3), with a TON of 98, for propane metathesis at 150 °C in a flow reactor. The dramatic improvement in the activity signifies the cooperativity between Ti and W and indicates that the key step of alkane metathesis (C-H bond activation followed by β-H elimination) occurs on Ti, followed by olefin metathesis, which occurs on W. We have demonstrated the influence and importance of proximity of Ti to W for achieving such a significantly high activity. This is the first report demonstrating the considerably high activity (TON = 9784) in propane metathesis at moderate temperature (150 °C) using a well-defined bimetallic system prepared via the SOMC approach.

  19. Tailor-made starch-based conjugates containing well-defined poly(vinyl acetate and its derivative poly(vinyl alcohol

    Directory of Open Access Journals (Sweden)

    2011-06-01

    Full Text Available Reversible addition-fragmentation chain transfer (RAFT polymerization was adopted to synthesize starch-based conjugates that possessed controllable architecture and properties. Starch-based xanthate agent was prepared and applied as chain transfer agent to conduct the living/controlled polymerization (LCP of vinyl acetate, which generated tailor-made conjugates of starch and well-defined poly(vinyl acetate (SVAc. The relevant derivatives, conjugates of starch and chain length-controlled poly(vinyl alcohol (SVA, were obtained subsequently. Various characterizations such as Fourier transform infrared spectra (FTIR, ultraviolet-visible spectroscopy (UV, proton nuclear magnetic resonance (1H NMR, gel permeation chromatography (GPC, X-ray diffraction (XRD, Thermogravimetric analysis (TGA, and dynamic mechanical thermal analysis (DMTA were performed to examine the structure of intermediates and the starch-based conjugates. Static contact angle measurements revealed that the hydrophilic character of starch-based conjugates was tunable. Well-defined SVAc was amphiphilic and it was able to self-assemble into size controllable micelles, which was verified by contact angles, transmission electron microscopy (TEM and dynamic light scattering (DLS tests. SVA exhibited much higher capability to form physically cross-linked hydrogel than starch did. Both the characteristic of SVAc and SVA were chain length-dependent.

  20. Steroid sulfatase and filaggrin mutations in a boy with severe ichthyosis, elevated serum IgE level and moyamoya syndrome.

    Science.gov (United States)

    Zhang, Qian; Si, Nuo; Liu, Yaping; Zhang, Dong; Wang, Rong; Zhang, Yan; Wang, Shuo; Liu, Xingju; Deng, Xiaofeng; Ma, Yonggang; Ge, Peicong; Zhao, Jizong; Zhang, Xue

    2017-09-10

    X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation. The deletion is at least 1.6Mb in size in the proband, based on real-time quantitative polymerase chain reaction results. No other genetic mutations related to ichthyosis, moyamoya or hyper-immunoglobulin E syndrome were detected. Furthermore, his mother's brothers suffered from mild XLI and only had a deletion encompassing the STS. Additionally, his father and older sister suffered from mild ichthyosis vulgaris and had the p.K4022X FLG mutation. We report the first case of XLI with concurrent moyamoya syndrome. Moreover, an IgE-mediated immune response may have triggered the moyamoya signaling cascade in this patient with ichthyosis. Furthermore, our study strengthens the hypothesis that filaggrin defects can synergize with an STS deficiency to exacerbate the ichthyosis phenotype in an ethnically diverse population. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.

    Science.gov (United States)

    Bolling, M C; Bladergroen, R S; van Steensel, M A M; Willemsen, M; Jonkman, M F; van Geel, M

    2010-04-01

    Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins 1 and 10. Classical EI is clinically characterized by severe neonatal erythroderma, blistering and fragile skin in infancy, quickly subsiding with subsequent development of generalized scaling hyperkeratosis. We report three Dutch families with palmoplantar keratoderma and mild blistering, but without neonatal erythroderma and generalized scaling. A novel heterozygous missense mutation in the linker L12 domain of KRT1:c.1019A>G, p.Asp340Gly was found associated with this phenotype in these families. To investigate the effects of the novel KRT1:p.Asp340Gly and the one other previously reported KRT1:p.Asp340Val mutations on keratinocyte cytoskeleton formation and stress resistance. Wild-type and mutant pEGFP-KRT1 fusion constructs were transfected into HaCaT cells and exposed to hypo-osmotic shock. Haplotyping and genealogical studies were performed to investigate the possibility of a common founder for p.Asp340Gly. Cells transfected with either one of the keratin 1 L12 domain mutations showed significantly increased tonofilament aggregation. The haplotype around the KRT1 gene was shared in all affected family members of two families and a common founder was traced. Our study supports the pathogenicity of the keratin 1 L12 domain mutations in vitro. These mutations are associated with a milder EI phenotype with pronounced palmoplantar keratoderma, and without neonatal erythroderma and scaling. The KRT1:p.Asp340Gly mutation in the Dutch families is likely to have arisen from a common founder.

  2. Solid-State NMR and DFT Studies on the Formation of Well-Defined Silica-Supported Tantallaaziridines: From Synthesis to Catalytic Application

    KAUST Repository

    Hamzaoui, Bilel

    2016-01-27

    Single-site, well-defined, silica-supported tantallaaziridine intermediates [≡Si-O-Ta(η2-NRCH2)(NMe2)2] [R=Me (2), Ph (3)] were prepared from silica-supported tetrakis(dimethylamido)tantalum [≡Si-O-Ta(NMe2)4] (1) and fully characterized by FTIR spectroscopy, elemental analysis, and 1H,13C HETCOR and DQ TQ solid-state (SS) NMR spectroscopy. The formation mechanism, by β-H abstraction, was investigated by SS NMR spectroscopy and supported by DFT calculations. The C-H activation of the dimethylamide ligand is favored for R=Ph. The results from catalytic testing in the hydroaminoalkylation of alkenes were consistent with the N-alkyl aryl amine substrates being more efficient than N-dialkyl amines. © 2016 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  3. Well-defined silica supported bipodal molybdenum oxo alkyl complexes: a model of the active sites of industrial olefin metathesis catalysts

    KAUST Repository

    Merle, Nicolas

    2017-09-25

    A well-defined, silica-supported molybdenum oxo alkyl species, ([triple bond, length as m-dash]SiO-)2Mo([double bond, length as m-dash]O)(CH2tBu)2, was prepared by the selective grafting of Mo([double bond, length as m-dash]O)(CH2tBu)3Cl onto a silica partially dehydroxylated at 200 °C using a rigorous surface organometallic chemistry approach. The immobilized bipodal surface species, partly resembling the active species of industrial MoO3/SiO2 olefin metathesis catalysts, exhibited excellent functional group tolerance in conjunction with its high activity in homocoupling, self and ring closing olefin metathesis.

  4. A Rare Case of Primary Intrapulmonary Neurilemmoma Diagnosed in a 43-Year-Old Asymptomatic Man with a Well-defined Intrapulmonary Mass.

    Science.gov (United States)

    Chrysikos, Serafeim; Kaponi, Maria; Triantafillidou, Christina; Karampitsakos, Theodoros; Tzouvelekis, Argyrios; Anyfanti, Maria; Marossis, Konstantinos; Konstantinou, Marios; Tringidou, Rodoula; Bouros, Demosthenes; Dimakou, Katerina

    2018-01-01

    Neurilemmoma (NL), also termed schwannoma, presents as a well-circumscribed and encapsulated mass in the human body and is almost always solitary. CT scan of a patient with NL shows a round, ovoid, or lobulated well-demarcated solid mass of soft tissue density. Primary intrathoracic neurogenic tumors location varies. However, the development of such tumors is by far more common in the costovertebral angle of the posterior mediastinum. Here, we report a rare case of a 43-year-old patient, never smoker and previously healthy, who presented with a mass adjacent to the right pulmonary hilum. This was an incidental finding on a chest X-ray after annual checkup at his workplace. The diagnosis was primary intrapulmonary NL. Primary intrapulmonary NL is an extremely rare tumor. However, based on the above, chest CT findings of a well-defined solid mass in an asymptomatic patient should raise the suspicion of NL, irrespective of the tumor localization.

  5. Well-defined silica supported bipodal molybdenum oxo alkyl complexes: a model of the active sites of industrial olefin metathesis catalysts.

    Science.gov (United States)

    Merle, Nicolas; Le Quéméner, Frédéric; Barman, Samir; Samantaray, Manoja K; Szeto, Kai C; De Mallmann, Aimery; Taoufik, Mostafa; Basset, Jean-Marie

    2017-10-12

    A well-defined, silica-supported molybdenum oxo alkyl species, ([triple bond, length as m-dash]SiO-)2Mo([double bond, length as m-dash]O)(CH2(t)Bu)2, was prepared by the selective grafting of Mo([double bond, length as m-dash]O)(CH2(t)Bu)3Cl onto a silica partially dehydroxylated at 200 °C using a rigorous surface organometallic chemistry approach. The immobilized bipodal surface species, partly resembling the active species of industrial MoO3/SiO2 olefin metathesis catalysts, exhibited excellent functional group tolerance in conjunction with its high activity in homocoupling, self and ring closing olefin metathesis.

  6. Meibomian gland dysfunction in a case of ichthyosis follicularis with alopecia and photophobia syndrome

    Directory of Open Access Journals (Sweden)

    Tarannum Fatima

    2014-01-01

    Full Text Available We are reporting an interesting case of ichthyosis follicularis with alopecia and photophobia syndrome in a daughter and father from the Indian subcontinent associated with Meibomian gland dysfunction. A three-year-old female child presented with pain, redness and severe photophobia in both eyes since one month. Cutaneous examination revealed ichthyosis, absence of hair all over the body including eyebrows, scalp and angular cheilosis. Ocular examination revealed bilateral severe meibomianitis, multiple superficial punctate keratitides in right eye and corneal epithelial defect in the left eye. Other systemic features were prominent high forehead and large ears. Her father had similar symptoms. Her symptoms improved after adequate treatment of meibomian gland dysfunction. She is asymptomatic at present.

  7. End-stage renal failure in a child with X-linked ichthyosis.

    Science.gov (United States)

    Matsukura, Hiro; Fuchizawa, Tatsuya; Ohtsuki, Akio; Higashiyama, Hiroyuki; Higuchi, Osamu; Higuchi, Akira; Miyawaki, Toshio

    2003-03-01

    We describe an 8-year-old boy who presented with steroid-resistant nephrotic syndrome (SRNS) associated with X-linked ichthyosis (XLI). At birth, the patient exhibited scaly skin, cryptorchidism, and steroid sulfatase (STS) deficiency. DNA analysis showed deletion of exons 1-10 of the STS gene. Proteinuria developed at 6 years and was resistant to steroid therapy. Kidney biopsy findings prior to steroid therapy were compatible with minimal change nephrotic syndrome. By immunofluorescence, glomerular basement membranes exhibited diffuse linear staining for the alpha5 chain of collagen IV, making X-linked Alport syndrome an unlikely explanation for the association of SRNS and ichthyosis. Despite immunosuppressive therapy together with oral prednisolone, no clinical response was achieved. He rapidly reached end-stage renal failure and finally underwent renal transplantation. We propose that SRNS should be considered as one of the highly variable phenotypes associated with XLI.

  8. Recessive X-linked ichthyosis associated with hypertrophic pyloric stenosis: a chance occurrence?

    Science.gov (United States)

    Bruno, L; Bocanegra, O; Magnelli, N

    2003-01-01

    The association of recessive X-linked ichthyosis (RXLI) and hypertrophic pyloric stenosis (HPS) has been considered to be due to a probable contiguous gene defect. However, there are several reports of patients with large deletions on both sides of the steroid sulphatase gene (responsible for RXL1) that show no signs of HPS. We report the third pedigree wherein RXL1 was associated with HPS. Apart from the proband, both diseases showed themselves as independent events in the family tree with ichthyosis present in two other individuals and HPS in three other relatives. We calculated the probability that both diseases occurred simultaneously in the index case as a chance occurrence as 1 : 40 (using the Independence principle of probability). We conclude that in our pedigree it is likely that these two rare diseases show an accidental and not a true genetic association.

  9. Mutations in X-linked ichthyosis disrupt the active site structure of estrone/DHEA sulfatase.

    Science.gov (United States)

    Ghosh, Debashis

    2004-12-24

    X-linked ichthyosis is an inherited genetic disorder of the skin that results from steroid sulfatase (STS) deficiency. Seven critical point mutations have been previously reported for the STS gene, six leading to amino acid substitutions and one to a premature termination of the polypeptide chain. The three-dimensional structure of the full-length human enzyme has been recently determined. Amino acid substitutions due to point mutations in X-linked ichthyosis are mapped onto the three-dimensional structure of human STS. In each case, the substitution appears to cause disruption of the active site architecture or to interfere with the enzyme's putative membrane-associating motifs crucial to the integrity of the catalytic cleft, thereby providing an explanation for the loss of STS activity.

  10. A KRT1 gene mutation related to epidermolytic ichthyosis in a Chinese family.

    Science.gov (United States)

    Ji, Y Z; Bai, Y; Wang, S; Li, F Q

    2015-12-01

    We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI. We analysed all exons and flanking sequences of the KRT1 and KRT10 genes using PCR, and found that the proband and his mother had a G>C transition at nucleotide position 1432 in exon 7 of KRT1, resulting in an amino acid substitution of glutamate (GAA) to glutamine (CAA) at codon 478 (E478Q). The KRT10 gene had no mutations. © 2015 British Association of Dermatologists.

  11. Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10.

    Science.gov (United States)

    Abdul-Wahab, A; Takeichi, T; Liu, L; Stephens, C; Akiyama, M; McGrath, J A

    2016-04-01

    Mutations in the keratin 10 gene (KRT10) have been shown to underlie several forms of epidermolytic ichthyosis (EI), including generalized, annular and naevoid variants. We investigated an autosomal dominant pedigree with ichthyosis in which there was intrafamilial clinical heterogeneity, with the affected individual family members presenting with features of either erythrokeratoderma progressiva, annular EI, localized or superficial EI, or more generalized EI. Sanger sequencing identified a new heterozygous missense mutation (c.457C>A; p.Leu153Met) in KRT10 in all affected individuals. No additional mutations were identified in the genes for keratin 1 (KRT1) keratin 2 (KRT2), connexin 31 (GJB3) or connexin 30.3 (GJB4) that might account for the clinical heterogeneity seen in this family. Our findings illustrate the intrafamilial variability in phenotype and diverse clinical presentations that can occur in EI resulting from a single mutation in KRT10. © 2015 British Association of Dermatologists.

  12. A de novo variant in the ASPRV1 gene in a dog with ichthyosis

    Science.gov (United States)

    Bauer, Anina; Galichet, Arnaud; Jagannathan, Vidhya; Sayar, Beyza S.; Wiener, Dominique J.; Müller, Eliane J.; Roosje, Petra; Welle, Monika M.

    2017-01-01

    Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer. We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding “aspartic peptidase, retroviral-like 1”, which is also known as skin aspartic protease (SASPase). The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro). ASPRV1 encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. By immunofluorescence staining we showed that the filaggrin expression pattern was altered in the affected dog. Thus, our findings provide strong evidence that the identified de novo variant is causative for the ichthyosis in the affected dog and that ASPRV1 plays an essential role in skin barrier formation. ASPRV1 is thus a novel candidate gene for unexplained human forms of ichthyoses. PMID:28249031

  13. A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

    Directory of Open Access Journals (Sweden)

    Anina Bauer

    2017-03-01

    Full Text Available Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer. We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase. The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro. ASPRV1 encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. By immunofluorescence staining we showed that the filaggrin expression pattern was altered in the affected dog. Thus, our findings provide strong evidence that the identified de novo variant is causative for the ichthyosis in the affected dog and that ASPRV1 plays an essential role in skin barrier formation. ASPRV1 is thus a novel candidate gene for unexplained human forms of ichthyoses.

  14. A de novo variant in the ASPRV1 gene in a dog with ichthyosis.

    Science.gov (United States)

    Bauer, Anina; Waluk, Dominik P; Galichet, Arnaud; Timm, Katrin; Jagannathan, Vidhya; Sayar, Beyza S; Wiener, Dominique J; Dietschi, Elisabeth; Müller, Eliane J; Roosje, Petra; Welle, Monika M; Leeb, Tosso

    2017-03-01

    Ichthyoses are a heterogeneous group of inherited cornification disorders characterized by generalized dry skin, scaling and/or hyperkeratosis. Ichthyosis vulgaris is the most common form of ichthyosis in humans and caused by genetic variants in the FLG gene encoding filaggrin. Filaggrin is a key player in the formation of the stratum corneum, the uppermost layer of the epidermis and therefore crucial for barrier function. During terminal differentiation of keratinocytes, the precursor profilaggrin is cleaved by several proteases into filaggrin monomers and eventually processed into free amino acids contributing to the hydration of the cornified layer. We studied a German Shepherd dog with a novel form of ichthyosis. Comparing the genome sequence of the affected dog with 288 genomes from genetically diverse non-affected dogs we identified a private heterozygous variant in the ASPRV1 gene encoding "aspartic peptidase, retroviral-like 1", which is also known as skin aspartic protease (SASPase). The variant was absent in both parents and therefore due to a de novo mutation event. It was a missense variant, c.1052T>C, affecting a conserved residue close to an autoprocessing cleavage site, p.(Leu351Pro). ASPRV1 encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. By immunofluorescence staining we showed that the filaggrin expression pattern was altered in the affected dog. Thus, our findings provide strong evidence that the identified de novo variant is causative for the ichthyosis in the affected dog and that ASPRV1 plays an essential role in skin barrier formation. ASPRV1 is thus a novel candidate gene for unexplained human forms of ichthyoses.

  15. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

    OpenAIRE

    Keith A. Choate; Lu, Yin; Zhou, Jing; Elias, Peter M.; Zaidi, Samir; Paller, Amy S; Farhi, Anita; Nelson-Williams, Carol; Crumrine, Debra; Milstone, Leonard M.; Lifton, Richard P

    2015-01-01

    Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected s...

  16. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  17. Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

    Science.gov (United States)

    Epstein, E H; Leventhal, M E

    1981-01-01

    Patients with recessive X-linked ichthyosis, one of the inherited types of excessive stratum corneum cohesion, have deficient steroid sulfatase in fibroblasts grown from their dermis. Because of the expense and long period required to grow such cells, we have assayed this enzyme in peripheral blood leukocytes and found it to be undetectable in those from patients with this type of ichthyosis, but normal in those from patients with other hereditary or acquired types of ichthyosis. In addition, steroid sulfatase activity is less in leukocytes from women who are carriers of this disease than normal women, and this assay can be used to detect such carriers. Despite previous studies demonstrating that the gene for this enzyme escapes the inactivation of other x-chromosome genes, normal women have leukocyte steroid sulfatase activity only 1.3 times that of normal men, suggesting that some gene dosage compensation occurs. Normal human epidermis, the tissue most affected clinically, also expresses steroid sulfatase activity. The epidermal enzyme is similar in its subcellular localization, its molecular size, and kinetically to that of placenta, leukocytes, and fibroblasts. PMID:6939689

  18. A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier.

    Science.gov (United States)

    Todorova, A; Litvinenko, I; Todorov, T; Tincheva, R; Avdjieva, D; Tincheva, S; Mitev, V

    2014-03-01

    The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene (STS) cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG)n repeat expansion in the FMR1 gene is associated with fragile X syndrome. We report on a family with two affected boys, the elder diagnosed with fragile X syndrome, the younger with DMD, and both suffering from severe ichthyosis. The family was analyzed by polymerase chain reaction, multiplex ligation-dependent probe amplification and haplotype analysis. The mother proved to be an asymptomatic carrier of all three non-contiguous mutation events, involving the STS gene, the DMD gene and a FMR1 expansion. To the best of our knowledge, this is the first description of an asymptomatic carrier of three different X-linked disorders, involving severe genetic rearrangements on both long and short arms of the X chromosomes. The boy with fragile X syndrome has inherited a triple recombinant maternal X chromosome, this way inheriting the FMR1 expansion and ichthyosis, originating most probably from different maternal Xes and excluding the DMD gene deletion. The transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Novel MBTPS2 missense mutation in the N-terminus transmembrane domain in a patient with ichthyosis follicularis, alopecia, and photophobia syndrome.

    Science.gov (United States)

    Izumi, Kosuke; Wilkens, Alisha; Treat, James R; Pride, Howard B; Krantz, Ian D

    2013-01-01

    Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is an X-linked dominant condition characterized by the triad of ichthyosis follicularis, alopecia, and photophobia caused by mutations in the MBTPS2 gene. Herein we describe a proband with IFAP syndrome with mild cutaneous manifestations and a novel MBTPS2 mutation in the N-terminal transmembrane domain. © 2013 Wiley Periodicals, Inc.

  20. Congenital Scoliosis.

    Science.gov (United States)

    Moramarco, M; Weiss, H R

    2015-11-17

    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found , this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology [5]. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.

  1. Controllable assembly of well-defined monodisperse Au nanoparticles on hierarchical ZnO microspheres for enhanced visible-light-driven photocatalytic and antibacterial activity.

    Science.gov (United States)

    Wang, Yuan; Fang, Hua-Bin; Zheng, Yan-Zhen; Ye, Rongqin; Tao, Xia; Chen, Jian-Feng

    2015-12-07

    A high-efficiency visible-light-driven photocatalyst composed of homogeneously distributed Au nanoparticles (AuNPs) well-defined on hierarchical ZnO microspheres (ZMS) via a controllable layer-by-layer self-assembly technique is demonstrated. The gradual growth of the characteristic absorption bands of Au loaded on ZnO in the visible light region with an increasing number of assemblies indicates the enhancement of the light harvesting ability of the ZMS/Au composites as well as the reproducibility and controllability of the entire assembly process. Results on the photoelectrochemical performance characterized by EIS and transient photocurrent response spectra indicate that the ZMS/Au composites possess increased photoinduced charge separation and transfer efficiency compared to the pure ZMS film. As a result, the hybrid composites exhibited enhanced decomposition activity for methylene blue and salicylic acid as well as antibacterial activity in killing S. aureus and E. coli under visible light irradiation. It can be noted that well-distributed Au components even at a rather low Au/ZnO weight ratio of ∼1.2% also exhibited extraordinary photocatalysis. Such a facile and controllable self-assembly approach may be viable for preparing high-performance visible-light-driven ZMS/Au photocatalysts in a simple and controllable way, and consequently, the technology may extend to other plasmon-enhanced heterostructures made of nanostructured semiconductors and noble metals for great potential application in environmental protection.

  2. Understanding the Hydro-metathesis Reaction of 1-decene by Using Well-defined Silica Supported W, Mo, Ta Carbene/Carbyne Complexes

    KAUST Repository

    Saidi, Aya

    2017-12-21

    Direct conversion of 1-decene to petroleum range alkanes was obtained using hydro-metathesis reaction. To understand this reaction we employed three different well-defined single site catalysts precursors; [(≡Si-O-)W(CH3)5] 1, [(≡Si-O-)Mo(≡CtBu)(CH2tBu)2] 2 and [(≡Si-O)Ta(=CHtBu)(CH2tBu)2] 3. We witnessed that in our conditions olefin metathesis/isomerization of 1-decene occurs much faster followed by reduction of the newly formed olefins rather than reduction of the 1-decene to decane, followed by metathesis of decane. We found that Mo-based catalyst favors 2+2 cycloaddition of 1-decene forming metallocarbene, followed by reduction of the newly formed olefins to alkanes. However, in the case of W and Ta-based catalysts, a rapid isomerization (migration) of the double bond followed by olefin metathesis and reduction of the newly formed olefins were observed. We witnessed that silica supported W catalyst precursor 1 and Mo catalyst precursor 2 are better catalysts for hydro-metathesis reaction with TONs of 818 and 808 than Ta-based catalyst 3 (TON of 334). This comparison of the catalysts provides us a better understanding that, if a catalyst is efficient in olefin metathesis reaction it would be a better catalyst for hydro-metathesis reaction.

  3. A cuboctahedral platinum (Pt79) nanocluster enclosed by well defined facets favours di-sigma adsorption and improves the reaction kinetics for methanol fuel cells.

    Science.gov (United States)

    Mahata, Arup; Choudhuri, Indrani; Pathak, Biswarup

    2015-08-28

    The methanol dehydrogenation steps are studied very systematically on the (111) facet of a cuboctahedral platinum (Pt79) nanocluster enclosed by well-defined facets. The various intermediates formed during the methanol decompositions are adsorbed at the edge and bridge site of the facet either vertically (through C- and O-centres) or in parallel. The di-sigma adsorption (in parallel) on the (111) facet of the nanocluster is the most stable structure for most of the intermediates and such binding improves the interaction between the substrate and the nanocluster and thus the catalytic activity. The reaction thermodynamics, activation barrier, and temperature dependent reaction rates are calculated for all the successive methanol dehydrogenation steps to understand the methanol decomposition mechanism, and these values are compared with previous studies to understand the catalytic activity of the nanocluster. We find the catalytic activity of the nanocluster is excellent while comparing with any previous reports and the methanol dehydrogenation thermodynamics and kinetics are best when the intermediates are adsorbed in a di-sigma manner.

  4. Rational and practical exfoliation of graphite using well-defined poly(3-hexylthiophene) for the preparation of conductive polymer/graphene composite.

    Science.gov (United States)

    Iguchi, Hiroki; Higashi, Chisato; Funasaki, Yuichi; Fujita, Keisuke; Mori, Atsunori; Nakasuga, Akira; Maruyama, Tatsuo

    2017-01-06

    Processing and manipulation of highly conductive pristine graphene in large quantities are still major challenges in the practical application of graphene for electric device. In the present study, we report the liquid-phase exfoliation of graphite in toluene using well-defined poly(3-hexylthiophene) (P3HT) to produce a P3HT/graphene composite. We synthesize and use regioregular P3HT with controlled molecular weights as conductive dispersants for graphene. Simple ultrasonication of graphite flakes with the P3HT successfully produces single-layer and few-layer graphene sheets dispersed in toluene. The produced P3HT/graphene composite can be used as conductive graphene ink, indicating that the P3HT/graphene composite has high electrical conductivity owing to the high conductivity of P3HT and graphene. The P3HT/graphene composite also works as an oxidation-resistant and conductive film for a copper substrate, which is due to the high gas-barrier property of graphene.

  5. A Well-Defined Silicon Nanocone-Carbon Structure for Demonstrating Exclusive Influences of Carbon Coating on Silicon Anode of Lithium-Ion Batteries.

    Science.gov (United States)

    Wang, Chao; Luo, Fei; Lu, Hao; Rong, Xiaohui; Liu, Bonan; Chu, Geng; Sun, Yu; Quan, Baogang; Zheng, Jieyun; Li, Junjie; Gu, Changzhi; Qiu, Xinping; Li, Hong; Chen, Liquan

    2017-01-25

    Nanotechnology and carbon coating have been applied to silicon anodes to achieve excellent lithium-ion batteries, but the exclusive influence of carbon coating on solid-electrolyte interphase (SEI) formation is difficult to exhibit distinctly because of the impurity and morphological irregularity of most nanostructured anodes. Here, we design a silicon nanocone-carbon (SNC-C) composite structure as a model anode to demonstrate the significant influences of carbon coating on SEI formation and electrochemical performance, unaffectedly as a result of pure electrode component and distinctly due to regular nanocone morphology. As demonstrated by morphological and elemental analysis, compared to the SNC electrode, the SNC-C electrode maintains a thinner SEI layer (∼10 nm) and more stable structure during cycling as well as longer cycle life (>725 cycles), higher Coulombic efficiency (>99%), and lower electrode polarization. This well-defined structure clearly shows the interface stability attributed to carbon coating and is promising in fundamental research of the silicon anode.

  6. Magnetic fluid control for viscous loss reduction of high-speed MRF brakes and clutches with well-defined fail-safe behavior

    Science.gov (United States)

    Güth, Dirk; Schamoni, Markus; Maas, Jürgen

    2013-09-01

    No-load losses within brakes and clutches based on magnetorheological fluids are unavoidable and represent a major barrier towards their wide-spread commercial adoption. Completely torque free rotation is not yet possible due to persistent fluid contact within the shear gap. In this paper, a novel concept is presented that facilitates the controlled movement of the magnetorheological fluid from an active, torque-transmitting region into an inactive region of the shear gap. This concept enables complete decoupling of the fluid engaging surfaces such that viscous drag torque can be eliminated. In order to achieve the desired effect, motion in the magnetorheological fluid is induced by magnetic forces acting on the fluid, which requires an appropriate magnetic circuit design. In this investigation, we propose a methodology to determine suitable magnetic circuit designs with well-defined fail-safe behavior. The magnetically induced motion of magnetorheological fluids is modeled by the use of the Kelvin body force, and a multi-physics domain simulation is performed to elucidate various transitions between an engaged and disengaged operating mode. The modeling approach is validated by captured high-speed video frames which show the induced motion of the magnetorheological fluid due to the magnetic field. Finally, measurements performed with a prototype actuator prove that the induced viscous drag torque can be reduced significantly by the proposed magnetic fluid control methodology.

  7. Amphiphilic Fluorescent Well-Defined Living Polymer from Indole-3-Carboxaldehyde and 4-Bromo-1, 8-Naphthalic Anhydride: Synthesis and Characterization

    Directory of Open Access Journals (Sweden)

    Ambika Srivastava

    2014-01-01

    Full Text Available We reported a well-defined amphiphilic fluorescent polymer bearing indole repeating units with naphthalimide pendants obtained by ATRP followed by chemical modification. The obtained polymer poly (N-allyl indole-2-(4-hydroxybutyl-1, 8-naphthalimide (PAIHN was characterized by 1H NMR, FTIR, and GPC. The polymer showed a specific fluorescence emission maximum at 538 nm excited at 435 nm in aqueous solution. The amphiphilic nature of the polymer was investigated in aqueous solution using two spectroscopic methods, namely, absorption and emission spectroscopy. The Critical Miceller Concentration values obtained by UV-visible and fluorescence are in good agreement with each other. The micelles were characterized by TEM at concentration of 0.014 mg/mL. The polymer PAIHN prepared after tweaking exhibits green fluorescence at 538 nm due to the significant effect of naphthalimide moieties, whereas before tweaking the polymer poly (1-allyl indole-3-carbaldehyde (PAIC exhibits blue fluorescence at 425 nm due to indole repeating units of the polymer.

  8. Structural Analysis and Anticoagulant Activities of the Novel Sulfated Fucan Possessing a Regular Well-Defined Repeating Unit from Sea Cucumber

    Directory of Open Access Journals (Sweden)

    Mingyi Wu

    2015-04-01

    Full Text Available Sulfated fucans, the complex polysaccharides, exhibit various biological activities. Herein, we purified two fucans from the sea cucumbers Holothuria edulis and Ludwigothurea grisea. Their structures were verified by means of HPGPC, FT-IR, GC–MS and NMR. As a result, a novel structural motif for this type of polymers is reported. The fucans have a unique structure composed of a central core of regular (1→2 and (1→3-linked tetrasaccharide repeating units. Approximately 50% of the units from L. grisea (100% for H. edulis fucan contain sides of oligosaccharides formed by nonsulfated fucose units linked to the O-4 position of the central core. Anticoagulant activity assays indicate that the sea cucumber fucans strongly inhibit human blood clotting through the intrinsic pathways of the coagulation cascade. Moreover, the mechanism of anticoagulant action of the fucans is selective inhibition of thrombin activity by heparin cofactor II. The distinctive tetrasaccharide repeating units contribute to the anticoagulant action. Additionally, unlike the fucans from marine alga, although the sea cucumber fucans have great molecular weights and affluent sulfates, they do not induce platelet aggregation. Overall, our results may be helpful in understanding the structure-function relationships of the well-defined polysaccharides from invertebrate as new types of safer anticoagulants.

  9. Well-defined 4-arm stars with hydroxy-terminated polyethylene, polyethylene-b-polycaprolactone and polyethylene-b-(polymethyl methacrylate) 2 arms

    KAUST Repository

    Zhang, Zhen

    2016-07-20

    Bis-boron-thexyl-silaboracycle was prepared by hydroboration of 1,4-bis(methyldivinylsilyl)butane with thexylborane and used to initiate the polyhomologation of dimethylsulfoxonium methylide to afford well-defined hydroxy-terminated 4-arm polyethylene (PE) stars. The synthesized PE stars were transformed to (PE-b-PCL)4 starblock copolymers via the ring-opening polymerization of ϵ-caprolactone (CL) initiated by the hydroxyl end groups of (PE-OH)4 in the presence of P2-tBu phosphazene base. Esterification of the hydroxyl groups of the OH-terminated PE star with 2,2-dichloroacetyl chloride led to (PE-Cl2)4 which was used as initiator (eight initiating atom transfer radical polymerization, ATRP, sites) for the synthesis of (PE-b-PMMA2)4 dendrimer-like stars by the ATRP of methyl methacrylate (MMA). All intermediates and final products were characterized by high temperature gel permeation chromatography and proton nuclear magnetic resonance spectroscopy. © 2016 The Royal Society of Chemistry.

  10. Facile Synthesis of Multiblock Copolymers Containing Sequence-Controlled Peptides and Well-Defined Vinyl Polymers by Nitroxide-Mediated Polymerization.

    Science.gov (United States)

    Nishimura, Shin-Nosuke; Higashi, Nobuyuki; Koga, Tomoyuki

    2017-08-10

    Precisely incorporating a wide range of structural and functional multiblocks along a polymer backbone is a significant challenge in polymer chemistry and offers promising opportunities to design highly ordered materials, including controlled polymer folding. Herein, a facile and versatile strategy for preparing functional multiblock copolymers composed of sequential peptides and well-defined vinyl polymers with a narrow polydispersity is reported. Cyclic oligopeptides have been developed that contain an alkoxyamine bond in the framework. By using this type of cyclic initiator, peptide-containing multiblock copolymers are successfully synthesized by nitroxide-mediated polymerization of styrene. To demonstrate the versatility of this method, radical (co)polymerizations were carried out for different monomers (p-chlorostyrene, 4-vinylpyridine, and styrene/acrylonitrile) and by three different cyclic peptide initiators with specific amino acid sequences. The resultant multiblock copolymer is foldable through intramolecular interactions between peptide blocks. It is believed that this approach will significantly advance the field of controlled polymer synthesis for complex structures and single-chain folding. © 2017 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.

  11. Amine-functionalized SBA-15 with uniform morphology and well-defined mesostructure for highly sensitive chemosensors to detect formaldehyde vapor.

    Science.gov (United States)

    Zhu, Yongheng; Li, Hui; Zheng, Qi; Xu, Jiaqiang; Li, Xinxin

    2012-05-22

    Amine-functionalized SBA-15 with uniform morphology and well-defined mesostructure was prepared using a postgrafting route. The morphology, mesostructure, and functionality of the materials were characterized by scanning electron microscopy, transmission electron microscopy, small-angle X-ray scattering, nitrogen adsorption-desorption, Fourier transform infrared spectroscopy, and solid-state nuclear magnetic resonance spectroscopy techniques. The results show that hexagonal lamelliform SBA-15 with a uniform particle size and short vertical channels plays two significant roles in uniformly dispersing amine-functionalizing groups and effectively adjusting the loadings of the functional groups within the mesopore channels. To confirm the potential application of the hybrids in gas sensors, using amine-functionalized SBA-15 as a sensing material and a quartz crystal microbalance as a transducer, a parts per billion level formaldehyde sensor with high sensitivity (response time about 11 s, recovery time about 15 s) and good chemoselectivity was achieved. This material holds great potential in the area of rapid, sensitive, and highly convenient formaldehyde detection.

  12. Well-defined copolymers synthesized by RAFT polymerization as effective modifiers to enhance the photocatalytic performance of TiO{sub 2}

    Energy Technology Data Exchange (ETDEWEB)

    Vasilaki, E., E-mail: euavasilakh@gmail.com [Department of Chemistry, University of Crete, 710 03, Heraklion, Crete (Greece); Center of Materials Technology and Photonics, School of Applied Technology, Technological Educational Institute of Crete, 710 04 Heraklion, Crete (Greece); Kaliva, M. [Institute of Electronic Structure and Laser, Foundation for Research & Technology-Hellas, P.O. Box 1385, Vassilika Vouton, 711 10 Heraklion, Crete (Greece); Department of Materials Science and Technology, University of Crete, 710 03, Heraklion, Crete (Greece); Katsarakis, N. [Center of Materials Technology and Photonics, School of Applied Technology, Technological Educational Institute of Crete, 710 04 Heraklion, Crete (Greece); Institute of Electronic Structure and Laser, Foundation for Research & Technology-Hellas, P.O. Box 1385, Vassilika Vouton, 711 10 Heraklion, Crete (Greece); Vamvakaki, M. [Institute of Electronic Structure and Laser, Foundation for Research & Technology-Hellas, P.O. Box 1385, Vassilika Vouton, 711 10 Heraklion, Crete (Greece); Department of Materials Science and Technology, University of Crete, 710 03, Heraklion, Crete (Greece)

    2017-03-31

    Highlights: • Well-defined, random functional copolymers were synthesized by RAFT polymerization. • Novel TiO{sub 2} particles in-situ modified with copolymers were synthesized. • The hybrid catalysts exhibited reduced aggregation and particle size. • The photocatalytic removal of methylene blue was higher for the hybrid catalysts. - Αbstract: The enhancement of the photocatalytic performance of anatase TiO{sub 2} nanoparticles is demonstrated by a facile route, involving their in-situ surface modification with preformed polymer chains. Random copolymers of poly(ethylene glycol) methyl ether acrylate-co-methacrylic acid (PEGA-co-MAA) or poly(ethylene glycol) methyl ether acrylate-co-dopamine methacrylamide (PEGA-co-DMA) were synthesized by reversible addition−fragmentation chain-transfer (RAFT) polymerization and were bound onto the surface of anatase titania nanoparticles via the “grafting to” method. The hybrid nanocatalysts were characterized by fourier transform infrared spectroscopy, zeta-potential measurements, X-ray powder diffraction, thermogravimetric analysis and transmission electron microscopy. Their photocatalytic performance was evaluated by the decoloration of methylene blue (MB) dye in aqueous media under UV–vis light irradiation. The enhanced photoactivity and reusability of the polymer modified photocatalysts compared to that of bare TiO{sub 2} nanoparticles was attributed to their improved dispersability and colloidal stability, the smaller particle size that leads to a larger surface area and the increased adsorption capacity of the dye onto the polymer modified nanoparticles.

  13. Chitosan encapsulation of essential oil "cocktails" with well-defined binary Zn(II)-Schiff base species targeting antibacterial medicinal nanotechnology.

    Science.gov (United States)

    Halevas, Eleftherios; Nday, Christiane M; Chatzigeorgiou, Evanthia; Varsamis, Vasileios; Eleftheriadou, Despoina; Jackson, Graham E; Litsardakis, Georgios; Lazari, Diamanto; Ypsilantis, Konstantinos; Salifoglou, Athanasios

    2017-11-01

    The advent of biodegradable nanomaterials with enhanced antibacterial activity stands as a challenge to the global research community. In an attempt to pursue the development of novel antibacterial medicinal nanotechnology, we herein a) synthesized ionic-gelated chitosan nanoparticles, b) compared and evaluated the antibacterial activity of essential oils extracted from nine different herbs (Greek origin) and their combinations with a well-defined antibacterial Zn(II)-Schiff base compound, and c) encapsulated the most effective hybrid combination of Zn(II)-essential oils inside the chitosan matrix, thereby targeting well-formulated nanoparticles of distinct biological impact. The empty and loaded chitosan nanoparticles were physicochemically characterized by FT-IR, Thermogravimetric Analysis (TGA), Scanning Electron Microscopy (SEM), with the entrapment and drug release studies being conducted through UV-Visible and atomic absorption techniques. The antimicrobial properties of the novel hybrid materials were demonstrated against Gram positive (S. aureus, B. subtilis, and B. cereus) and Gram negative (E. coli and X. campestris) bacteria using modified agar diffusion methods. The collective physicochemical profile of the hybrid Zn(II)-essential oil cocktails, formulated so as to achieve optimal activity when loaded to chitosan nanoparticles, signifies the importance of design in the development of efficient nanomedicinal pharmaceuticals a) based on both natural products and biogenic metal ionic cofactors, and b) targeting bacterial infections and drug resistance. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. High-Hall-Mobility Al-Doped ZnO Films Having Textured Polycrystalline Structure with a Well-Defined (0001) Orientation.

    Science.gov (United States)

    Nomoto, Junichi; Makino, Hisao; Yamamoto, Tetsuya

    2016-12-01

    Five hundred-nanometer-thick ZnO-based textured polycrystalline films consisting of 490-nm-thick Al-doped ZnO (AZO) films deposited on 10-nm-thick Ga-doped ZnO (GZO) films exhibited a high Hall mobility (μ H) of 50.1 cm(2)/Vs with a carrier concentration (N) of 2.55 × 10(20) cm(-3). Firstly, the GZO films were prepared on glass substrates by ion plating with dc arc discharge, and the AZO films were then deposited on the GZO films by direct current magnetron sputtering (DC-MS). The GZO interface layers with a preferential c-axis orientation play a critical role in producing AZO films with texture development of a well-defined (0001) orientation, whereas 500-nm-thick AZO films deposited by only DC-MS showed a mixture of the c-plane and the other plane orientation, to exhibit a μ H of 38.7 cm(2)/Vs with an N of 2.22 × 10(20) cm(-3).

  15. Bidimensional analysis of the phase behavior of a well-defined surfactant (C10E4)/oil (n-octane)/water-temperature system.

    Science.gov (United States)

    Pizzino, Aldo; Molinier, Valérie; Catté, Marianne; Salager, Jean-Louis; Aubry, Jean-Marie

    2009-12-17

    The equilibrium phase behavior of the well-defined system tetraethyleneglycol decyl ether (C(10)E(4))/n-octane/water (SOW) at variable temperature (T) was revisited by careful analysis of the three bidimensional cuts, namely, the gamma (at constant water-oil ratio), chi (at constant surfactant concentration), and Delta (at constant temperature) plots. A straightforward methodology is reported to determine the frontiers of the triphasic (Winsor III) domain on any cut of the SOW-T phase prism. It comes from the systematic analysis of another cut, here gamma at different water-oil ratios and chi at different surfactant concentrations from the knowledge of Delta cuts at different temperatures. The method has been validated through comparison with experimental results. It enables one to show, for the first time, the evolution of a SOW system three-phase body contours with (i) water-oil ratio, (ii) surfactant concentration, and (iii) temperature. It exhibits a strong impact of the surfactant affinity for the pure oil and water phases on the shape of the phase diagrams. The systematic study of the effect of the surfactant concentration on the aspect of the chi plot sheds light on an unusual shape found at low surfactant concentration.

  16. Rational and practical exfoliation of graphite using well-defined poly(3-hexylthiophene) for the preparation of conductive polymer/graphene composite

    Science.gov (United States)

    Iguchi, Hiroki; Higashi, Chisato; Funasaki, Yuichi; Fujita, Keisuke; Mori, Atsunori; Nakasuga, Akira; Maruyama, Tatsuo

    2017-01-01

    Processing and manipulation of highly conductive pristine graphene in large quantities are still major challenges in the practical application of graphene for electric device. In the present study, we report the liquid-phase exfoliation of graphite in toluene using well-defined poly(3-hexylthiophene) (P3HT) to produce a P3HT/graphene composite. We synthesize and use regioregular P3HT with controlled molecular weights as conductive dispersants for graphene. Simple ultrasonication of graphite flakes with the P3HT successfully produces single-layer and few-layer graphene sheets dispersed in toluene. The produced P3HT/graphene composite can be used as conductive graphene ink, indicating that the P3HT/graphene composite has high electrical conductivity owing to the high conductivity of P3HT and graphene. The P3HT/graphene composite also works as an oxidation-resistant and conductive film for a copper substrate, which is due to the high gas-barrier property of graphene.

  17. Facile preparation of well-defined hydrophilic core-shell upconversion nanoparticles for selective cell membrane glycan labeling and cancer cell imaging.

    Science.gov (United States)

    Zhang, Wanjun; Peng, Bo; Tian, Fang; Qin, Weijie; Qian, Xiaohong

    2014-01-07

    Molecular imaging enables in situ visualization of biomolecules in living organisms and creates numerous opportunities for basic biological research and early disease diagnosis. As luminescent probes for molecular imaging, lanthanide-doped upconversion nanoparticles (UCNPs) exhibit superior performance compared to conventional fluorescent dyes in many ways, including high tissue penetration depth and minimized autofluorescence and photobleaching, making them particularly advantageous for imaging analysis. Although various synthesis methods have been reported, the preparation of high quality, water-soluble UCNPs remains challenging. For in situ imaging, glycans on the cell surface are particularly attractive due to their key roles in cellular activity and disease occurrence and development. However, glycan imaging is a challenging task due to their diverse structures and incompatibility with genetically encoded fluorescent tagging techniques. Herein, we report a new type of highly water-soluble, lectin-functionalized core-shell UCNP synthesized by surface-initiated atom transfer radical polymerization (SI-ATRP) for selective cell membrane glycan labeling and cancer cell imaging. SI-ATRP modification results in controlled growth of hydrophilic polymers on the UCNP surface and well-defined core-shell structure, producing UCNPs with improved biocompatibility and intact luminance property. Furthermore, the numerous functional groups on the polymer brush shell provide a large number of binding sites and 3D support for lectin immobilization. The increased loading density and diversified architecture of the immobilized lectins facilitates multivalent binding between the lectins and the glycans on the cell surface and leads to selective labeling of highly metastatic hepatocellular carcinoma cells (HCCHM3) in vitro and successful in vivo imaging of HCCHM3 inoculated mice.

  18. Surfactant-Free RAFT Emulsion Polymerization of Styrene Using Thermoresponsive macroRAFT Agents: Towards Smart Well-Defined Block Copolymers with High Molecular Weights

    Directory of Open Access Journals (Sweden)

    Steffen Eggers

    2017-12-01

    Full Text Available The combination of reversible addition–fragmentation chain transfer (RAFT and emulsion polymerization has recently attracted much attention as a synthetic tool for high-molecular-weight block copolymers and their micellar nano-objects. Up to recently, though, the use of thermoresponsive polymers as both macroRAFT agents and latex stabilizers was impossible in aqueous media due to their hydrophobicity at the usually high polymerization temperatures. In this work, we present a straightforward surfactant-free RAFT emulsion polymerization to obtain thermoresponsive styrenic block copolymers with molecular weights of around 100 kDa and their well-defined latexes. The stability of the aqueous latexes is achieved by adding 20 vol % of the cosolvent 1,4-dioxane (DOX, increasing the phase transition temperature (PTT of the used thermoresponsive poly(N-acryloylpyrrolidine (PAPy macroRAFT agents above the polymerization temperature. Furthermore, this cosolvent approach is combined with the use of poly(N,N-dimethylacrylamide-block-poly(N-acryloylpiperidine-co-N-acryloylpyrrolidine (PDMA-b-P(APi-co-APy as the macroRAFT agent owning a short stabilizing PDMA end block and a widely adjustable PTT of the P(APi-co-APy block in between 4 and 47 °C. The temperature-induced collapse of the latter under emulsion polymerization conditions leads to the formation of RAFT nanoreactors, which allows for a very fast chain growth of the polystyrene (PS block. In dynamic light scattering (DLS, as well as cryo-transmission electron microscopy (cryoTEM, moreover, all created latexes indeed reveal a high (temperature stability and a reversible collapse of the thermoresponsive coronal block upon heating. Hence, this paper pioneers a versatile way towards amphiphilic thermoresponsive high-molecular-weight block copolymers and their nano-objects with tailored corona switchability.

  19. Solvent-Controlled Branching of Localized versus Delocalized Singlet Exciton States and Equilibration with Charge Transfer in a Structurally Well-Defined Tetracene Dimer

    Energy Technology Data Exchange (ETDEWEB)

    Cook, Jasper D. [Department; Carey, Thomas J. [Department; Arias, Dylan H. [National Renewable Energy Laboratory, Golden, Colorado 80401, United States; Johnson, Justin C. [National Renewable Energy Laboratory, Golden, Colorado 80401, United States; Damrauer, Niels H. [Department

    2017-11-21

    A detailed photophysical picture is elaborated for a structurally well-defined and symmetrical bis-tetracene dimer in solution. The molecule was designed for interrogation of the initial photophysical steps (S1 - 1TT) in intramolecular singlet fission (SF). (Triisopropylsilyl)acetylene substituents on the dimer TIPS-BT1 as well as a monomer model TIPS-Tc enable a comparison of photophysical properties, including transient absorption dynamics, as solvent polarity is varied. In nonpolar toluene solutions, TIPS-BT1 decays via radiative and nonradiative pathways to the ground state with no evidence for dynamics related to the initial stages of SF. This contrasts with the behavior of the previously reported unsubstituted dimer BT1 and is likely a consequence of energetic perturbations to the singlet excited-state manifold of TIPS-BT1 by the (trialkylsilyl)acetylene substituents. In polar benzonitrile, two key findings emerge. First, photoexcited TIPS-BT1 shows a bifurcation into both arm-localized (S1-loc) and dimer-delocalized (S1-dim) singlet exciton states. The S1-loc decays to the ground state, and weak temperature dependence of its emissive signatures suggests that once it is formed, it is isolated from S1-dim. Emissive signatures of the S1-dim state, on the other hand, are strongly temperature-dependent, and transient absorption dynamics show that S1-dim equilibrates with an intramolecular charge-transfer state in 50 ps at room temperature. This equilibrium decays to the ground state with little evidence for formation of long-lived triplets nor 1TT. These detailed studies spectrally characterize many of the key states in intramolecular SF in this class of dimers but highlight the need to tune electronic coupling and energetics for the S1 - 1TT photoreaction.

  20. Gender-specific association between serotonin transporter polymorphisms (5-HTTLPR and rs25531) and neuroticism, anxiety and depression in well-defined healthy Han Chinese.

    Science.gov (United States)

    Chang, Chuan-Chia; Chang, Hsin-An; Fang, Wen-Hui; Chang, Tieh-Ching; Huang, San-Yuan

    2017-01-01

    A tri-allelic serotonin transporter promoter polymorphism (5-HTTLPR/rs25531) more effectively determines the levels of transcriptional efficacy than that with the bi-allelic 5-HTTLPR polymorphism in vitro. Both are reportedly associated with personality traits of negative emotionality, but with conflicting findings. One explanation for this is that a gender difference may play a role in genetic contribution. Here, we hypothesized that the tri-allelic genotype of the serotonin transporter is more closely linked to neuroticism, an anxiety- and depression-related trait, than the bi-allelic variation, particularly in a gender-dependent way. The genotypes of the 5-HTTLPR and rs25531 loci were determined in 1139 well-defined physically and mentally healthy Han Chinese (550 men, 589 women; mean age 38.3±10.3 years). All participants completed the neuroticism measure of the short-form Maudsley Personality Inventory (MPI). The levels of anxiety and depression were assessed by the Beck Anxiety Inventory (BAI) and the Beck Depression Inventory (BDI), respectively. A significant tri-allelic genotype-by-gender interaction effect was found in the MPI-neuroticism measure. S'S' homozygotes were associated with higher neuroticism than L' allele carriers in men. Also, both the BAI and BDI scores were higher in the S'S' homozygotic men. In the bi-allelic analyses, however, there was only an association between SS genotype and MPI-neuroticism in men. Sub-analyses by gender-stratification may reduce the statistical power. Our findings confirm that gender differences exist in the genetic contributions of the serotonin transporter in human neuroticism, and anxiety/depression. Our data provide further support for rs25531, strengthening the effects of 5-HTTLPR. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. A facile approach to TiO2 colloidal spheres decorated with Au nanoparticles displaying well-defined sizes and uniform dispersion.

    Science.gov (United States)

    Damato, Tatiana C; de Oliveira, Caio C S; Ando, Rômulo A; Camargo, Pedro H C

    2013-02-05

    This paper describes a straightforward approach for the synthesis of hybrid materials composed of titanium dioxide (TiO(2)) colloidal spheres decorated with gold nanoparticles (Au NPs). In the reported method, monodisperse TiO(2) colloidal spheres (∼220 nm in diameter) could be directly employed as templates for the nucleation and growth of Au NPs over their surface using AuCl(4)(-)(aq) as the Au precursor, ascorbic acid as the reducing agent, PVP as the stabilizer, and water as the solvent. The Au NPs presented a uniform distribution over the TiO(2) surface. Interestingly, the size of the Au NPs could be controlled by performing sequential reduction steps with AuCl(4)(-)(aq). This method could also be adapted for the production of TiO(2) colloidal spheres decorated with other metal NPs including silver (Ag), palladium (Pd), and platinum (Pt). The catalytic activities of the TiO(2)-Au materials as a function of composition and NPs size were investigated toward the reduction of 4-nitrophenol to 4-aminophenol under ambient conditions. An increase of up to 10.3-fold was observed for TiO(2)-Au relative to TiO(2). A surface-enhanced Raman scattering application for TiO(2)-Au was also demonstrated employing 4-mercaptopyridine as the probe molecule. The results presented herein indicate that our approach may serve as a platform for the synthesis of hybrid materials containing TiO(2) and metal NPs displaying well-defined morphologies, compositions, and sizes. This can have important implications for the design of TiO(2)-based materials with improved performances for photocatalysis and photovoltaic applications.

  2. Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.

    Science.gov (United States)

    Saudek, Vladimir

    2012-01-01

    Classification of proteins into families based on remote homology often helps prediction of their biological function. Here we describe prediction of protein cargo receptors involved in vesicle formation and protein trafficking. Hidden Markov model profile-to-profile searches in protein databases using endoplasmic reticulum lumen protein retaining receptors (KDEL, Erd2) as query reveal a large and diverse family of proteins with seven transmembrane helices and common topology and, most likely, similar function. Their coding genes exist in all eukaryota and in several prokaryota. Some are responsible for metabolic diseases (cystinosis, congenital disorder of glycosylation), others are candidate genes for genetic disorders (cleft lip and palate, certain forms of cancer) or solute uptake and efflux (SWEETs) and many have not yet been assigned a function. Comparison with the properties of KDEL receptors suggests that the family members could be involved in protein trafficking and serve as cargo receptors. This prediction sheds new light on a range of biologically, medically and agronomically important proteins and could open the way to discovering the function of many genes not yet annotated. Experimental testing is suggested.

  3. Congenital hemangioma.

    Science.gov (United States)

    Amouri, Meriem; Mesrati, Hela; Chaaben, Hend; Masmoudi, Abderrahmen; Mseddi, Madiha; Turki, Hamida

    2017-01-01

    Congenital hemangiomas (CHs) are fully developed hemangiomas that are present at birth. There are 2 possible types: rapidly involuting CHs (RICHs) and noninvoluting CHs (NICHs). We conducted a retrospective study (2008-2012) of 6 patients (2 females, 4 males) with CHs (mean age, 16 days). We analyzed the epidemiology, clinical characteristics, and clinical outcome of CHs over this 5-year period.

  4. Congenital Defects.

    Science.gov (United States)

    Goldman, Allen S.; And Others

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

  5. 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." © 2015 Elsevier B.V. All rights reserved.

  6. Congenital keratoconjunctivitis sicca and ichthyosiform dermatosis in the cavalier King Charles spaniel.

    Science.gov (United States)

    Barnett, K C

    2006-09-01

    To record a previously unreported congenital and hereditary condition affecting the eyes and skin in the cavalier King Charles spaniel. Nineteen cases (13 litters) were investigated, with particular reference to eye and skin clinical signs. In addition, five generation pedigrees were obtained and studied from all cases with the exception of one. The eye signs were due to keratoconjunctivitis sicca, a common ocular disease in the dog, but rarely of congenital origin. The skin signs were of an ichthyosiform dermatosis; ichthyosis being a rare skin disease in the dog. In human beings, ichthyosis is a similar disease, mainly inherited and with a neonatal onset, and sometimes accompanied by other developmental defects. In the cavalier King Charles spaniel, the coat abnormality was noted at birth by the breeders as a 'curly coat', with deterioration of the skin signs as the animal became adult. These two conditions occurring together in this breed is well recognised by some breeders but rarely by the veterinary profession. Successful treatment is not possible, although some improvement, particularly of the keratoconjunctivitis sicca, can be obtained. The probable hereditary nature of the condition is an important factor for control.

  7. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  8. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease.

    Science.gov (United States)

    Nederend, Ineke; Jongbloed, Monique R M; de Geus, Eco J C; Blom, Nico A; Ten Harkel, Arend D J

    2016-04-15

    Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  9. Hydro-Metathesis of Long-Chain Olefin (1-decene) using Well-Defined Silica-Supported Tungsten (VI), Molybdenum (VI) and Tantalum (V) Catalysts

    KAUST Repository

    Saidi, Aya

    2016-11-01

    Nowadays, catalysis lies at the heart of economy growth mainly in the petroleum industry. Catalysis can offer real and potential solutions to the current challenges for a long-term sustainable energy, green chemistry, and environmental protection. In this context, one of the most important and future prosperity promising catalytic applications in the petrochemical field is hydrocarbons metathesis; it consists on the conversion of both renewable and non-petroleum fossil carbon sources to transportation fuels. Olefin metathesis has become one of the standard methodologies for constructing C-C bonds in many organic transformation reactions. This owed to the numerous types of metathesis reactions that have been developed, for example, enyne, ring-opening and closing, self and cross metathesis, etc. But the one step conversion of olefin to alkanes has not been studied much. Recently, only one such a work has been published for the hydro-metathesis of propylene by tantalum hydride supported on KCC-1 in dynamic reactor. With this knowledge, we thought to study the hydro-metathesis using liquid olefin (1-decene). Another aspect of using 1-decene comes from our previous experience on metathesis of n-decane where the first step is the conversion of decane to 1-decene and subsequently to different chain length alkanes with W-alkyl/alkylidene catalyst. In this way, it would be easy for us to use different catalysts and compare them with parent catalyst concerning TON. We found 100% conversion with TON of 1010 using supported WMe6 onto SiO2-700 [(≡Si-O-)WMe5] against the previous results for n-decane showing 20% conversion and TON of 153. In this work, we disclose the hydro-metathesis reaction of 1-decene using well-defined silica supported W(VI), Mo(VI) and Ta(V) alkyl catalysts in batch reactor condition. This work is divided into three major sections; first chapter contains an introduction to the field of catalysis and surface organometallic chemistry. In second chapter

  10. High field electron paramagnetic resonance spectroscopy under ultrahigh vacuum conditions—A multipurpose machine to study paramagnetic species on well defined single crystal surfaces

    Science.gov (United States)

    Rocker, J.; Cornu, D.; Kieseritzky, E.; Seiler, A.; Bondarchuk, O.; Hänsel-Ziegler, W.; Risse, T.; Freund, H.-J.

    2014-08-01

    A new ultrahigh vacuum (UHV) electron paramagnetic resonance (EPR) spectrometer operating at 94 GHz to investigate paramagnetic centers on single crystal surfaces is described. It is particularly designed to study paramagnetic centers on well-defined model catalysts using epitaxial thin oxide films grown on metal single crystals. The EPR setup is based on a commercial Bruker E600 spectrometer, which is adapted to ultrahigh vacuum conditions using a home made Fabry Perot resonator. The key idea of the resonator is to use the planar metal single crystal required to grow the single crystalline oxide films as one of the mirrors of the resonator. EPR spectroscopy is solely sensitive to paramagnetic species, which are typically minority species in such a system. Hence, additional experimental characterization tools are required to allow for a comprehensive investigation of the surface. The apparatus includes a preparation chamber hosting equipment, which is required to prepare supported model catalysts. In addition, surface characterization tools such as low energy electron diffraction (LEED)/Auger spectroscopy, temperature programmed desorption (TPD), and infrared reflection absorption spectroscopy (IRAS) are available to characterize the surfaces. A second chamber used to perform EPR spectroscopy at 94 GHz has a room temperature scanning tunneling microscope attached to it, which allows for real space structural characterization. The heart of the UHV adaptation of the EPR experiment is the sealing of the Fabry-Perot resonator against atmosphere. To this end it is possible to use a thin sapphire window glued to the backside of the coupling orifice of the Fabry Perot resonator. With the help of a variety of stabilization measures reducing vibrations as well as thermal drift it is possible to accumulate data for a time span, which is for low temperature measurements only limited by the amount of liquid helium. Test measurements show that the system can detect paramagnetic

  11. Synthesis and property investigations of well-defined polymer/inorganic core-shell nanomaterials with structural, optical, electronic and magnetic properties

    Science.gov (United States)

    Gravano, Stefanie Marie

    (methyl methacrylate) (pMMA) which can function as strength enhancers in a material, (2) as wave-guides in electro-optical applications by grafting a non-linear optical (NLO) molecule to a nano-sized core, (3) as a conductive medium by developing a conductive poly(thiophene) (pT) polymerization method to functionalize an core structure, and (4) as a nano-sized magnetic core encased in a well-defined poly(styrene) (pS) matrix.

  12. High field electron paramagnetic resonance spectroscopy under ultrahigh vacuum conditions—A multipurpose machine to study paramagnetic species on well defined single crystal surfaces

    Energy Technology Data Exchange (ETDEWEB)

    Rocker, J.; Cornu, D.; Kieseritzky, E.; Hänsel-Ziegler, W.; Freund, H.-J. [Fritz-Haber-Institut der MPG, Faradayweg 4-6, 14195 Berlin (Germany); Seiler, A. [Fritz-Haber-Institut der MPG, Faradayweg 4-6, 14195 Berlin (Germany); Laboratorium für Applikationen der Synchrotronstrahlung, KIT Campus Süd, Kaiserstr. 12, 76131 Karlsruhe (Germany); Bondarchuk, O. [Fritz-Haber-Institut der MPG, Faradayweg 4-6, 14195 Berlin (Germany); CIC energiGUNE, Parque Tecnologico, C/Albert Einstein 48, CP 01510 Minano (Alava) (Spain); Risse, T., E-mail: risse@chemie.fu-berlin.de [Fritz-Haber-Institut der MPG, Faradayweg 4-6, 14195 Berlin (Germany); Institut für Chemie und Biochemie, Freie Universität Berlin, Takustr. 3, 14195 Berlin (Germany)

    2014-08-01

    A new ultrahigh vacuum (UHV) electron paramagnetic resonance (EPR) spectrometer operating at 94 GHz to investigate paramagnetic centers on single crystal surfaces is described. It is particularly designed to study paramagnetic centers on well-defined model catalysts using epitaxial thin oxide films grown on metal single crystals. The EPR setup is based on a commercial Bruker E600 spectrometer, which is adapted to ultrahigh vacuum conditions using a home made Fabry Perot resonator. The key idea of the resonator is to use the planar metal single crystal required to grow the single crystalline oxide films as one of the mirrors of the resonator. EPR spectroscopy is solely sensitive to paramagnetic species, which are typically minority species in such a system. Hence, additional experimental characterization tools are required to allow for a comprehensive investigation of the surface. The apparatus includes a preparation chamber hosting equipment, which is required to prepare supported model catalysts. In addition, surface characterization tools such as low energy electron diffraction (LEED)/Auger spectroscopy, temperature programmed desorption (TPD), and infrared reflection absorption spectroscopy (IRAS) are available to characterize the surfaces. A second chamber used to perform EPR spectroscopy at 94 GHz has a room temperature scanning tunneling microscope attached to it, which allows for real space structural characterization. The heart of the UHV adaptation of the EPR experiment is the sealing of the Fabry-Perot resonator against atmosphere. To this end it is possible to use a thin sapphire window glued to the backside of the coupling orifice of the Fabry Perot resonator. With the help of a variety of stabilization measures reducing vibrations as well as thermal drift it is possible to accumulate data for a time span, which is for low temperature measurements only limited by the amount of liquid helium. Test measurements show that the system can detect paramagnetic

  13. Terminal uranium(V/VI) nitride activation of carbon dioxide and carbon disulfide. Factors governing diverse and well-defined cleavage and redox reactions

    Energy Technology Data Exchange (ETDEWEB)

    Cleaves, Peter A.; Gardner, Benedict M.; Liddle, Stephen T. [School of Chemistry, The University of Manchester (United Kingdom); Kefalidis, Christos E.; Maron, Laurent [LPCNO, CNRS and INSA, Universite Paul Sabatier, Toulouse (France); Tuna, Floriana; McInnes, Eric J.L. [School of Chemistry and Photon Science Institute, The University of Manchester (United Kingdom); Lewis, William [School of Chemistry, The University of Nottingham (United Kingdom)

    2017-02-24

    The reactivity of terminal uranium(V/VI) nitrides with CE{sub 2} (E=O, S) is presented. Well-defined C=E cleavage followed by zero-, one-, and two-electron redox events is observed. The uranium(V) nitride [U(Tren{sup TIPS})(N)][K(B15C5){sub 2}] (1, Tren{sup TIPS}=N(CH{sub 2}CH{sub 2}NSiiPr{sub 3}){sub 3}; B15C5=benzo-15-crown-5) reacts with CO{sub 2} to give [U(Tren{sup TIPS})(O)(NCO)][K(B15C5){sub 2}] (3), whereas the uranium(VI) nitride [U(Tren{sup TIPS})(N)] (2) reacts with CO{sub 2} to give isolable [U(Tren{sup TIPS})(O)(NCO)] (4); complex 4 rapidly decomposes to known [U(Tren{sup TIPS})(O)] (5) with concomitant formation of N{sub 2} and CO proposed, with the latter trapped as a vanadocene adduct. In contrast, 1 reacts with CS{sub 2} to give [U(Tren{sup TIPS})(κ{sup 2}-CS{sub 3})][K(B15C5){sub 2}] (6), 2, and [K(B15C5){sub 2}][NCS] (7), whereas 2 reacts with CS{sub 2} to give [U(Tren{sup TIPS})(NCS)] (8) and ''S'', with the latter trapped as Ph{sub 3}PS. Calculated reaction profiles reveal outer-sphere reactivity for uranium(V) but inner-sphere mechanisms for uranium(VI); despite the wide divergence of products the initial activation of CE{sub 2} follows mechanistically related pathways, providing insight into the factors of uranium oxidation state, chalcogen, and NCE groups that govern the subsequent divergent redox reactions that include common one-electron reactions and a less-common two-electron redox event. Caution, we suggest, is warranted when utilising CS{sub 2} as a reactivity surrogate for CO{sub 2}. (copyright 2017 Wiley-VCH Verlag GmbH and Co. KGaA, Weinheim)

  14. Generation of Well-Defined Pairs of Silylamine on Highly Dehydroxylated SBA-15: Application to the Surface Organometallic Chemistry of Zirconium

    KAUST Repository

    Azzi, Joachim

    2012-11-01

    Design of a new well-defined surface organometallic species [O-(=Si–NH)2Zr(IV)Np2] has been obtained by reaction of tetraneopentyl zirconium (ZrNp4) on SBA-15 surface displaying mainly silylamine pairs [O-(=Si–NH2)2]. These surface species have been achieved by an ammonia treatment of a highly dehydroxylated SBA-15 at 1000°C (SBA-151000). This support is known to contain mainly strained reactive siloxane bridges (≡Si-O-Si≡)[1] along with a small amount of isolated plus germinal silanols =Si(OH)2. Chemisorption of ammonia occurs primarily by opening these siloxane bridges[2] to generate silanol/silylamine pairs [O-(=Si–NH2)(=SiOH)] followed by substitution of the remaining silanol. Further treatment using hexamethyldisilazane (HMDS) results in the protection of the isolated remaining silanol groups by formation of ≡Si-O-SiMe3 and =Si(OSiMe3)2 but leaves ≡SiNH2 untouched. After reaction of this functionalized surface with ZrNp4, this latter displays mainly a bi-podal zirconium neopentyl organometallic complex [O-(=Si–NH)2Zr(IV)Np2] which has been fully characterized by diverse methods such as infrared transmission spectroscopy, magic angle spinning solid state nuclear magnetic resonance, surface elemental analysis, small angle X-ray powder diffraction (XRD), nitrogen adsorption and energy filtered transmission electron microscopy (EFTEM). These different characterization tools unambiguously prove that the zirconium organometallic complex reacts mostly with silylamine pairs to give a bi-podal zirconium bis-neopentyl complex, uniformly distributed into the channels of SBA-151000. Therefore this new material opens a new promising research area in Surface Organometallic Chemistry which, so far, was dealing mainly with O containing surface. It is expected that vicinal amine functions may play a very different role as compared with classical inorganic supports. Given the importance in the last decades of N containing ligands in catalysis, one may expect

  15. [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.

  16. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

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

  17. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-11-01

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

  18. Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

    Science.gov (United States)

    Fong, K; Takeichi, T; Liu, L; Pramanik, R; Lee, J; Akiyama, M; McGrath, J A

    2015-07-01

    Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. We report a case from the UK of IFAP syndrome resulting from a new mutation, p.Asn508Thr, emphasizing the significant overlap between IFAP and KFSD at both the molecular and clinical levels. An area of alopecia on the scalp of the proband's mother was also noted, suggesting lyonization. © 2015 British Association of Dermatologists.

  19. X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.

    Science.gov (United States)

    Hernández-Martín, A; Cuadrado-Corrales, N; Ciria-Abad, S; Arias-Palomo, D; Mascaró-Galy, J M; Escámez, M J; García, M; Del Río, M; Torrelo, A; González-Sarmiento, R

    2010-01-01

    X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated. Copyright 2010 S. Karger AG, Basel.

  20. Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

    Science.gov (United States)

    Ramesh, Raakhee; Chen, Huijia; Kukula, Anna; Wakeling, Emma L; Rustin, Malcolm H A; McLean, W H Irwin

    2011-12-01

    X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. To test the hypothesis that co-inheritance of FLG mutations can act as a genetic modifier in XLI. An unusually severe XLI phenotype in addition to eczema and mild childhood asthma was investigated in a female Indian patient by fluorescent in situ hybridization (FISH) for the common STS gene deletion. Direct sequencing of the entire FLG gene was also performed. FISH analysis revealed that the proband was homozygous for the common STS genomic deletion mutation. Further investigation revealed a frame-shift mutation 3672del4 in the gene encoding filaggrin (FLG), leading to premature termination of profilaggrin translation. Interestingly, her father, who had a very typical mild presentation of XLI, did not carry this FLG mutation in addition to his STS deletion. Her mother was a heterozygous carrier of the FLG mutation and consistent with this, had mild symptoms of ichthyosis vulgaris; she was also a heterozygous carrier of the STS deletion. This is the second reported case of the modifying effects of FLG null alleles on XLI and strengthens the hypothesis that filaggrin defects can synergize with STS deficiency to exacerbate the ichthyosis phenotype. Copyright © 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

  1. Dysplastic Ichthyosis Uteri-like changes of the entire endometrium associated with a squamous cell carcinoma of the uterine cervix

    Directory of Open Access Journals (Sweden)

    Fadare Oluwole

    2006-05-01

    Full Text Available Abstract Ichthyosis uteri is an exceedingly rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. Originally described as an endometrial response to iatrogenically-introduced caustic substances, similar changes have since been described in association with a variety of inflammatory conditions of the endometrium. We describe herein a heretofore undescribed example of a moderately differentiated squamous cell carcinoma of the uterine cervix associated with extensive ichthyosis uteri-like changes of the entire adjacent endometrium. Additionally, the squamous epithelium of the latter also showed multifocal changes diagnostic of a low-grade squamous intraepithelial lesion. The potential genesis of this composite of findings is discussed, as is the neoplastic potential of ichthyosis uteri. It is concluded that a squamous cell carcinoma of the cervix extended proximally into the endometrium, and that there was a colonization of a pre-existing ichthyosis uteri by associated human papillomavirus. The possibility of significant cervical pathology should be considered when plaques of squamous epithelium with low grade dysplastic changes are identified in an endometrial biopsy or curettage.

  2. 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%)

  3. X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.

    Science.gov (United States)

    Jöbsis, A. C.; De Groot, W. P.; Tigges, A. J.; De Bruijn, H. W.; Rijken, Y.; Meijer, A. E.; Marinkovic-Ilsen, A.

    1980-01-01

    The combined occurrence of X-linked steroid sulfatase deficiency of the placenta and X-linked ichthyosis is reported in 6 unrelated boys. Placental steroid sulfatase deficiency was diagnosed on the basis of a very low total estrogen excretion (6 cases), verified prenatally by the dehydroepiandrosterone sulfate (DHEAS) loading test in 4 cases and postnatally by clinical investigations (6 cases) and by biochemical investigations (5 cases). In addition, microsomal arylsulfatase C (MAS) could not be detected in the placental homogenate of the five cases investigated. Lysosomal arylsulfatases were within the normal range. All boys developed well except for X-linked ichthyosis. In the 5 cases investigated the skin biopsy showed the same MAS deficiency histochemically in the granular layer of the epidermis as in the trophoblast cells. The same holds true for the skin of carriers. Steroid sulfatase activity of cultured skin fibroblasts from the boys was almost nil (3 cases). The histochemical technique offers a practical approach in the scientific investigation of keratotic conditions. Images Figure 1 Figure 2 Figure 3 PMID:6929654

  4. Role of cholesterol sulfate in epidermal structure and function: lessons from X-linked ichthyosis.

    Science.gov (United States)

    Elias, Peter M; Williams, Mary L; Choi, Eung-Ho; Feingold, Kenneth R

    2014-03-01

    X-linked ichthyosis is a relatively common syndromic form of ichthyosis most often due to deletions in the gene encoding the microsomal enzyme, steroid sulfatase, located on the short area of the X chromosome. Syndromic features are mild or unapparent unless contiguous genes are affected. In normal epidermis, cholesterol sulfate is generated by cholesterol sulfotransferase (SULT2B1b), but desulfated in the outer epidermis, together forming a 'cholesterol sulfate cycle' that potently regulates epidermal differentiation, barrier function and desquamation. In XLI, cholesterol sulfate levels my exceed 10% of total lipid mass (≈1% of total weight). Multiple cellular and biochemical processes contribute to the pathogenesis of the barrier abnormality and scaling phenotype in XLI. This article is part of a Special Issue entitled The Important Role of Lipids in the Epidermis and their Role in the Formation and Maintenance of the Cutaneous Barrier. Guest Editors: Kenneth R. Feingold and Peter Elias. Copyright © 2013 Elsevier B.V. All rights reserved.

  5. Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

    Science.gov (United States)

    Shibata, Akitaka; Akiyama, Masashi

    2015-08-01

    Ichthyoses are a group of disorders marked by whitish, brown or dark-brown scales on the skin of almost the whole body. Harlequin ichthyosis (HI) is the most severe form. Neonatal death from HI was once common. Due to intensive neonatal care and, probably, to the early introduction of oral retinoids, HI outcome has improved. For definitive diagnosis and the exclusion of other disorders, such as lamellar ichthyosis, which also shows a collodion baby phenotype, it is helpful to refer to electron microscopy of abnormal or absent lamellar granules and a heavy accumulation of lipid droplets in the keratinocytes. ATP-binding cassette transporter A12 (ABCA12) is known as the causative gene of HI. Severe ABCA12 deficiency results in malformation of intercellular lipid layers in the cornified layers and leads to epidermal lipid barrier disruption. In HI patients, at least one mutation on each allele must be a truncation or deletion mutation to cause serious loss of ABCA12 function. Identification of the gene underlying HI has enabled DNA-based prenatal diagnosis for HI at the earlier stages of pregnancy with low risk. There are no curative treatments for HI. Abca12-deficient mice were created as a model of HI. Treatment of the model mice with retinoid or steroid has not been successful. © 2015 Japan Pediatric Society.

  6. Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

    Science.gov (United States)

    Williams, M L; Elias, P M

    1981-01-01

    Activity of the microsomal enzyme, steroid sulfatase, is absent in keratinocytes, fibroblasts, and leukocytes of patients with recessive x-linked ichthyosis. This study was undertaken to determine if cholesterol sulfate, a substrate of this enzyme, accumulates in the pathological scale of these patients. Scales from 8 patients with recessive x-linked ichthyosis, 10 patients with other forms of ichthyosis, and normal human outer stratum corneum were extracted with chloroform/water (1:2:0.8 by vol) and lipids were fractionated by quantitative, sequential thin-layer chromatography. Cholesterol sulfate was identified by cochromatography in several solvent systems, by its staining characteristics, by biochemical analysis, and by mass spectrometry. The mean cholesterol sulfate content of recessive x-linked ichthyotic scale was 12.5 +/- 0.8% of the total lipid, a fivefold increase over normal (P less than 0.0025), whereas the cholesterol sulfate content of other ichthyotic scale was normal. This increase in cholesterol sulfate content was accompanied by a decrease in total neutral lipids (P less than 0.0025) and free sterols (P less than 0.025) but no change in sterol esters or total sterols. These results demonstrate that deficiency of steroid sulfatase in recessive x-linked ichthyosis results in excessive accumulation of a substrate, cholesterol sulfate, in the pathologic scale, which may underly the pathogenesis of the scaling in this disorder. Measurement of cholesterol sulfate content in scale provides an alternative method to enzymatic assay for the diagnosis of this form of ichthyosis. Images PMID:6947980

  7. Xp22.3 interstitial deletion: a recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation.

    Science.gov (United States)

    Ben Khelifa, Hela; Soyah, Najla; Ben-Abdallah-Bouhjar, Inesse; Gritly, Ryma; Sanlaville, Damien; Elghezal, Hatem; Saad, Ali; Mougou-Zerelli, Soumaya

    2013-09-25

    X-linked ichthyosis is a genetic disorder affecting the skin and caused by a deficit in the steroid sulfatase enzyme (STS), often associated with a recurrent microdeletion at Xp22.31. Most of the STS deleted patients have X-linked ichthyosis as the only clinical feature and it is believed that patients with more complex disorders including mental retardation could be present as a result of contiguous gene deletion. In fact, VCX3A gene, a member of the VCX (variable charge, X chromosome) gene family, was previously proposed as the candidate gene for X-linked non-specific mental retardation in patients with X-linked ichthyosis. We report on a boy with familial ichthyosis, dysmorphic features and moderate mental retardation with approximately 2 Mb interstitial deletion on Xp22.3 involving VCX3A and STS genes. Copyright © 2013 Elsevier B.V. All rights reserved.

  8. Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    William S. Baek

    2017-01-01

    Full Text Available A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD. Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI. Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4. Such neurological manifestations of XLI warrant attention as practical targets of clinical management.

  9. [Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis].

    Science.gov (United States)

    Liu, An; Xiao, Sheng-xiang; Tan, Sheng-shun; Jiao, Ting; Liu, Yan; Li, Xiao-li; Zhou, Shao-na

    2005-08-01

    To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations. Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene. The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon 1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion. Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.

  10. Male-pattern baldness is common in men with X-linked recessive ichthyosis.

    Science.gov (United States)

    Axt-Gadermann, M; Schlichting, M; Küster, W

    2003-01-01

    X-linked recessive ichthyosis (XRI) is a relatively common genetic disorder of keratinization caused by deficiency in steroid sulfatase (STS) activity. STS appears to play an important role in testosterone metabolism. Therefore it has been discussed that the presence of normally functioning STS may be a presupposition for the development of androgenetic alopecia (AGA). Patients with the diagnosis of XRI were sent questionnaires. We reviewed 26 cases with XRI and noticed 11 patients with AGA in an advanced stage. The existence of two pathways for the steroid biosynthesis may be the explanation for a compensatory mechanism in XRI males. The Delta5 pathway depends on steroid sulfate activity, whereas the working Delta4 pathway produces AGA in XRI males. Copyright 2003 S. Karger AG, Basel

  11. [X-linked recessive ichthyosis (XRI), cerebellar ataxia and neuropsychiatric symptoms].

    Science.gov (United States)

    Pehlke, J R; Venkataramani, V; Emmert, S; Mohr, A; Zoll, B; Nau, R

    2013-01-01

    X-Linked ichthyosis (XRI) is a keratinisation disorder caused by a mutation of the steroid sulfatase gene. An association with mental retardation and epilepsy has been reported earlier. Here, we report on a patient suffering from cerebellar symptoms such as yes/yes head tremor, scanning dysarthria, pronounced dysmetria and intention tremor, without any abnormalities of the cerebellum in MRI, in addition to XRI proven by molecular genetics. Furthermore, the patient suffered from anxiety disorder, depression, and a male pattern baldness. One of the patient' s brothers and a nephew showed a similar clinical presentation. Because of the fact that several members of the patient's family suffered from similar symptoms, we consider a syndromic link between XRI and cerebellar disorder to be possible. © Georg Thieme Verlag KG Stuttgart · New York.

  12. Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature.

    Science.gov (United States)

    Baek, William S; Aypar, Umut

    2017-01-01

    A 5-year-old boy presented with mild autism and attention-deficit hyperactivity disorder (ADHD). Chromosomal microarray demonstrated a 1.7 Mb deletion at Xp22.31, which was consistent with X-linked ichthyosis (XLI). Further exam revealed dry, scaly skin on his abdomen and pretibial areas. Patients with mutations involving solely the STS gene or the recurrent ~2 Mb deletion may present with ADHD, whereas those with larger deletions including the NLGN4 gene can present with both ADHD and autism. However, our patient presented with mild autism in addition to ADHD despite having only the recurrent deletion without loss of NLGN4. Such neurological manifestations of XLI warrant attention as practical targets of clinical management.

  13. HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5'-phosphatase.

    Science.gov (United States)

    Preumont, Alice; Rzem, Rim; Vertommen, Didier; Van Schaftingen, Emile

    2010-10-15

    Pseudouridine, the fifth-most abundant nucleoside in RNA, is not metabolized in mammals, but is excreted intact in urine. The purpose of the present work was to search for an enzyme that would dephosphorylate pseudouridine 5'-phosphate, a potential intermediate in RNA degradation. We show that human erythrocytes contain a pseudouridine-5'-phosphatase displaying a Km ≤ 1 μM for its substrate. The activity of the partially purified enzyme was dependent on Mg2+, and was inhibited by Ca2+ and vanadate, suggesting that it belonged to the 'haloacid dehalogenase' family of phosphatases. Its low molecular mass (26 kDa) suggested that this phosphatase could correspond to the protein encoded by the HDHD1 (haloacid dehalogenase-like hydrolase domain-containing 1) gene, present next to the STS (steroid sulfatase) gene on human chromosome Xp22. Purified human recombinant HDHD1 dephosphorylated pseudouridine 5'-phosphate with a kcat of 1.6 s-1, a Km of 0.3 μM and a catalytic efficiency at least 1000-fold higher than that on which it acted on other phosphate esters, including 5'-UMP. The molecular identity of pseudouridine-5'-phosphatase was confirmed by the finding that its activity was negligible (X-linked ichthyosis patients harbouring a combined deletion of the STS gene (the X-linked ichthyosis gene) and the HDHD1 gene. Furthermore, pseudouridine-5'-phosphatase activity was 1.5-fold higher in erythrocytes from women compared with men, in agreement with the HDHD1 gene undergoing only partial inactivation in females. In conclusion, HDHD1 is a phosphatase specifically involved in dephosphorylation of a modified nucleotide present in RNA.

  14. Development of the first well-defined tungsten oxo alkyl derivatives supported on silica by SOMC: towards a model of WO3/SiO2 olefin metathesis catalyst

    KAUST Repository

    Mazoyer, Etienne

    2010-01-01

    A well-defined, silica-supported tungsten oxo alkyl species prepared by the surface organometallic chemistry approach displays high and sustained activity in propene metathesis. Remarkably, its catalytic performances outpace those of the parent imido derivative, underlining the importance of the oxo ligand in the design of robust catalysts. © 2010 The Royal Society of Chemistry.

  15. Synthesis of Well-Defined Copper "N"-Heterocyclic Carbene Complexes and Their Use as Catalysts for a "Click Reaction": A Multistep Experiment that Emphasizes the Role of Catalysis in Green Chemistry

    Science.gov (United States)

    Ison, Elon A.; Ison, Ana

    2012-01-01

    A multistep experiment for an advanced synthesis lab course that incorporates topics in organic-inorganic synthesis and catalysis and highlights green chemistry principles was developed. Students synthesized two "N"-heterocyclic carbene ligands, used them to prepare two well-defined copper(I) complexes and subsequently utilized the complexes as…

  16. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  17. Increased Prevalence of Filaggrin Deficiency in 51 Patients with Recessive X-Linked Ichthyosis Presenting for Dermatological Examination.

    Science.gov (United States)

    Süßmuth, Kira; Gruber, Robert; Rodriguez, Elke; Traupe, Heiko; Amler, Susanne; Sánchez-Guijo, Alberto; Valentin, Frederic; Tarinski, Tatjana; Straub, Natalia; Metze, Dieter; Schneider, Stefan W; Hausser, Ingrid; Baurecht, Hansjörg; Weidinger, Stephan; Oji, Vinzenz

    2017-10-17

    X-linked ichthyosis (XLI) is a keratinization disorder caused by deficient activity of steroidsulfatase. In contrast, ichthyosis vulgaris is due to semidominant mutations of the filaggrin gene (FLG). In view of phenotypic variations of these ichthyoses we speculated that XLI may be influenced by additional FLG mutations in a significant number of patients. We characterized a group of 51 patients with XLI and systematically analyzed them for additional FLG mutations (R501X, 2282del4, R2447X, S3247X). The study was complemented by morphological analyses. Full FLG sequencing for rare mutations was performed in special cases. Interestingly, prevalence of FLG mutations was significantly increased compared to a population-based control cohort of 1,377 individuals (17.6% vs. 8.4%, p=0.038). Palmoplantar hyperlinearity was significantly associated with the FLG mutation status. Ichthyosis severity score seemed to be increased in XLI with FLG mutations, but the difference was not significant (p=0.124). To our surprise, percentages of atopic manifestations were highly prevalent in both subgroups, 40% and 33% in XLI without and with filaggrin deficiency, respectively. Of note, reduction of filaggrin staining or keratohyalin could not be explained by FLG mutations in all patients. However, we conclude that FLG mutations represent a significant genetic modifier of XLI. [196 words]. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights reserved.

  18. In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.

    Science.gov (United States)

    Shi, Hui; Qi, Xiao-Feng; Liu, Tao-Tao; Hao, Qian; Li, Xiao-Hong; Liang, Ling-Ling; Wang, Yi-Miao; Cui, Zhi-Hua

    2017-03-16

    Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings. We present a 34-year-old male Chinese patient with PDCD associated with X-linked ichthyosis. Slit-lamp biomicroscopy showed the presence of tiny and pleomorphic opacities in the posterior stroma immediately anterior to Descemet membrane bilaterally. IVCM revealed regular distributed hyperreflective particles inside the enlarged and activated keratocytes in the posterior stroma. Hyperreflective particles were also observed dispersedly outside the keratocytes in the anterior stroma. Dermatological examination revealed that the skin over the patient's entire body was dry and coarse, with thickening and scaling of the skin in the extensor side of the extremities. PCR results demonstrated that all ten exons and part flanking sequences of STS gene failed to produce any amplicons in the patient. IVCM is useful for analyzing the living corneal structural changes in rare corneal dystrophies. We first reported the IVCM characteristics of PDCD associated with X-linked ichthyosis, which was caused by a deletion of the steroid sulfatase (STS) gene, confirmed by gene analysis.

  19. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000411.htm Congenital adrenal hyperplasia To use the sharing features on this page, please enable JavaScript. Congenital adrenal hyperplasia is the name given to a group of ...

  20. Congenital Heart Information Network

    Science.gov (United States)

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

  1. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  2. Striking difference between alkane and olefin metathesis using the well-defined precursor [≡Si-O-WMe5]: Indirect evidence in favour of a bifunctional catalyst W alkylidene-hydride

    KAUST Repository

    Riache, Nassima

    2015-01-01

    Metathesis of linear alkanes catalyzed by the well-defined precursor (≡Si-O-WMe5) affords a wide distribution of linear alkanes from methane up to triacontane. Olefin metathesis using the same catalyst and under the same reaction conditions gives a very striking different distribution of linear α-olefins and internal olefins. This shows that olefin and alkane metathesis processes occur via very different pathways.

  3. [(≢SiO)TaVCl2Me2]: A well-defined silica-supported tantalum(V) surface complex as catalyst precursor for the selective cocatalyst-free trimerization of ethylene

    KAUST Repository

    Chen, Yin

    2012-10-22

    On the surface of it: In the absence of co-catalyst, a well-defined silica-supported surface organometallic complex [(≢SiO)Ta VCl2Me2] selectively catalyzes the oligomerization of ethylene. The use of surface organometallic species allows three different pathways to be determined for the reduction of TaV to TaIII species under pressure of ethylene. Copyright © 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

  4. Lamellar ichthyosis

    Science.gov (United States)

    ... loss Abnormal finger and toenails Skin of the palms and soles is thickened Treatment Collodion babies usually ... AZ. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. ...

  5. Harlequin Ichthyosis

    Directory of Open Access Journals (Sweden)

    Hashemzadeh Ahmad

    2009-04-01

    Full Text Available It is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. This fatal disorder occur in both sexes and all races. In most circumstances the newborn die soon after birth Also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis."nBecause of its rarity, we report 2 cases of this disorder, here.

  6. Congenital cholesteatoma of the middle ear - uncommon clinical presentation

    Directory of Open Access Journals (Sweden)

    Bukurov Bojana

    2014-01-01

    Full Text Available Introduction. Congenital cholesteatoma of the middle ear is un uncommon and yet not well-defined disease. Only few cases of cholesteatoma in the fossa ovalis with unusual clinical presentation have been reported in medical literature. Case report. We reported a 16-year-old girl with congenital cholesteatoma in the fossa ovalis with minimal clinical presentation. A small mass was found occluding the fossa ovalis and mimicking otosclerotic process within tympanic cavity. The operation started as stapedotomy, and when the process was confirmed it converted to mastoidectomy via the retroauricular approach. Conclusion. The diagnosis of congenital cholesteatoma in children should always be considered, even if the clinical symptoms imitate other ear disorders, in our case otosclerosis. [Projekat Ministarstva nauke Republike Srbije, br. 179055: Cochlear implantation impact on education of deaf and hearing-impaired

  7. Is Congenital Syphilis Really Congenital Syphilis?

    Directory of Open Access Journals (Sweden)

    Yi Li

    2006-01-01

    Full Text Available Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US. However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis CDC collection forms (form 73.126 were reviewed for the years in question. The reported congenital syphilis cases in the year 2002–2004 in Detroit were reviewed. No cases met confirmed case criteria and few probable cases were based on neonatal evaluations. The majority of “congenital syphilis” cases were established based on incomplete maternal data such as missing followup serologic titers in the absence of complete neonatal information. In conclusion, although the reported congenital syphilis rate in Detroit is alarmingly high, the true occurrence of congenital syphilis is likely to have been overstated. A health department reporting program that includes more diligent neonatal followup would allow for a more accurate representation of this public health concern.

  8. Is Congenital Syphilis Really Congenital Syphilis?

    OpenAIRE

    Yi Li; Bernard Gonik

    2006-01-01

    Detroit has recently been distinguished as having the highest congenital syphilis rate in the United States (250.3 cases per 100 000 live births in Detroit versus 10.3 in the US). However, depending on each health department's followup and CDC reporting, these data may not accurately reflect the true congenital syphilis rate. This study examines the reported cases over a three-year time period with focus on the criteria used for diagnosis. All local health department congenital syphilis C...

  9. Importance of therapeutic patient education in ichthyosis: results of a prospective single reference center study

    Science.gov (United States)

    2013-01-01

    Background Ichthyoses are a heterogeneous group of rare genodermatoses. Patients and their families face difficulties related to daily care and management that may be aggravated by social isolation. Objectives To evaluate the impact of therapeutic educational programs in improving the knowledge of ichthyosis patients, and their relatives, about their disease. Patients and methods We organized a two sessions-program of “know-how” dedicated to the overall management of ichthyoses. These sessions were conducted based on a tool specifically designed for the study, which addressed our various areas of expertise through a collective game. The participants (patients and their parents and siblings) were divided into groups, and the questions were tailored according to the participants’ age. The program was conceived as a knowledge reinforcement program that took place during a weekend of education and rest, organized away from healthcare structures. Our aim was to facilitate the program in a neutral place to encourage respite care and to ensure the availability of a multidisciplinary healthcare team. Results After the reinforcement session, children aged from 6 to 12 years and their families acquired the targeted know-how and social skills. Conclusion Benefits of TPE in the management of ichthyoses are the following: (1) the trust between patients their families and the caregivers was strengthened; (2) the context of the program encouraged self-expression, answered questions and provided mutual aid; and (3) the more self-sufficient families could better manage emergencies. PMID:23902898

  10. Recent advances in understanding ichthyosis pathogenesis [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Nareh V. Marukian

    2016-06-01

    Full Text Available The ichthyoses, also known as disorders of keratinization (DOK, encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance. This nomenclature system divides DOK into two main groups: nonsyndromic forms, with clinical findings limited to the skin, and syndromic forms, with involvement of additional organ systems. Advances in next-generation sequencing technology have allowed for more rapid and cost-effective genetic analysis, leading to the identification of novel, rare mutations that cause DOK, many of which represent phenotypic expansion. This review focuses on new findings in syndromic and nonsyndromic ichthyoses, with emphasis on novel genetic discoveries that provide insight into disease pathogenesis.

  11. Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

    Science.gov (United States)

    Lovric, Svjetlana; Goncalves, Sara; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Désir, Julie; Biemann, Ronald; Pei, York; Lloberas, Nuria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P.; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.

    2017-01-01

    Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1Δ yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS. PMID:28165339

  12. [Multiplex quantitative PCR detection for female carrier in an X-linked ichthyosis family].

    Science.gov (United States)

    Zhu, Hai-yan; Li, Hai-bo; Wu, Ling-qian; Zhu, Xiang-yu; Li, Jie; Yang, Ying; Zhu, Rui-fang; Wu, Xing; Duan, Hong-lei; Zhang, Ying; Hu, Ya-li

    2008-12-16

    To analyze the pathogenic mutation of an X-linked ichthyosis (XLI) family, and identify the genetic diagnosis of three probable female carriers in this family. To evaluate the availability of different detect methods for steroid sulfatase (STS) gene mutation. Peripheral blood samples were collected from the family, including the proband, proband's mother, younger sister, and younger female cousin, and 10 males and 10 females as controls. Ordinary PCR was used to detect whether there was STS gene deletion in the male proband. Then, multiplex quantitative fluorescent PCR (QF-PCR) was used to detect the STS gene in the proband and his 3 female family members. Fluorescence in situ hybridization (FISH) was used to authenticate the results of multiplex QF-PCR method. No amplified product of the exons 1-10 of STS gene deletion was detected by ordinary PCR in the proband. The proband's mother was diagnosed as a carrier, but his sister and cousin were diagnosed as normal females by multiplex QF-PCR. FISH confirmed the results of multiplex QF-PCR. Both multiplex QF-PCR and FISH are effective to detect the complete deletion mutation of STS gene and identify the female carrier, and multiplex QF-PCR is more convenient and automatic compared with FISH.

  13. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.

    Directory of Open Access Journals (Sweden)

    Ian Smyth

    2008-09-01

    Full Text Available Harlequin Ichthyosis (HI is a severe and often lethal hyperkeratotic skin disease caused by mutations in the ABCA12 transport protein. In keratinocytes, ABCA12 is thought to regulate the transfer of lipids into small intracellular trafficking vesicles known as lamellar bodies. However, the nature and scope of this regulation remains unclear. As part of an original recessive mouse ENU mutagenesis screen, we have identified and characterised an animal model of HI and showed that it displays many of the hallmarks of the disease including hyperkeratosis, loss of barrier function, and defects in lipid homeostasis. We have used this model to follow disease progression in utero and present evidence that loss of Abca12 function leads to premature differentiation of basal keratinocytes. A comprehensive analysis of lipid levels in mutant epidermis demonstrated profound defects in lipid homeostasis, illustrating for the first time the extent to which Abca12 plays a pivotal role in maintaining lipid balance in the skin. To further investigate the scope of Abca12's activity, we have utilised cells from the mutant mouse to ascribe direct transport functions to the protein and, in doing so, we demonstrate activities independent of its role in lamellar body function. These cells have severely impaired lipid efflux leading to intracellular accumulation of neutral lipids. Furthermore, we identify Abca12 as a mediator of Abca1-regulated cellular cholesterol efflux, a finding that may have significant implications for other diseases of lipid metabolism and homeostasis, including atherosclerosis.

  14. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti.

    Science.gov (United States)

    Choate, Keith A; Lu, Yin; Zhou, Jing; Elias, Peter M; Zaidi, Samir; Paller, Amy S; Farhi, Anita; Nelson-Williams, Carol; Crumrine, Debra; Milstone, Leonard M; Lifton, Richard P

    2015-04-01

    Widespread reversion of genetic disease is rare; however, such events are particularly evident in some skin disorders in which normal clones develop on a background of affected skin. We previously demonstrated that mutations in keratin 10 (KRT10) cause ichthyosis with confetti (IWC), a severe dominant disorder that is characterized by progressive development of hundreds of normal skin spots via revertant mosaicism. Here, we report on a clinical and histological IWC subtype in which affected subjects have red, scaly skin at birth, experience worsening palmoplantar keratoderma in childhood, and develop hundreds of normal skin spots, beginning at around 20 years of age, that increase in size and number over time. We identified a causal de novo mutation in keratin 1 (KRT1). Similar to IWC-causing KRT10 mutations, this mutation in KRT1 resulted in a C-terminal frameshift, replacing 22 C-terminal amino acids with an alternate 30-residue peptide. Mutant KRT1 caused partial collapse of the cytoplasmic intermediate filament network and mislocalized to the nucleus. As with KRT10 mutations causing IWC, reversion of KRT1 mutations occurred via mitotic recombination. Because reversion is not observed with other disease-causing keratin mutations, the results of this study implicate KRT1 and KRT10 C-terminal frameshift mutations in the high frequency of revertant mosaicism in IWC.

  15. Disturbed keratin expression and distinct genotype of ichthyosis hystrix Lambert type.

    Science.gov (United States)

    Wang, Wen-Hui; Song, Shu-Juan; Li, Lin-Feng; Zhang, Long; Yang, Shao-Min; Zhang, Qian; Wang, Yu-Ying; Sun, Ting-Ting

    2010-01-01

    We have previously reported the second familial ichthyosis hystrix strongly resembling Lambert type in clinical features, now this family has expanded to three generations, including three patients and five unaffected individuals. The purpose of this study was to investigate the molecular basis of this family. Paraffin-embedded skin sections were stained using keratin 1 (K1), K2, K10, K5+14 and loricrin antibodies. Genomic DNA isolated from blood samples was used to carry out a polymerase-chain-reaction. Immunohistochemistry showed that the distributions, but not the densities of K1/K2/K10 were dramatically changed in the patients. Unlike normal expression of K1/K10 from suprabasal layers and K2 from upper spinous layers, K1/K10 was expressed later from upper spinous layers and K2 was expressed earlier from basal layers; and they were densely aggregated around the nucleus rather than the normal regular distribution in the cytoplasm. DNA sequencing did not reveal any pathogenic mutations in candidate genes (KRT1, KRT2, KRT10 and plakoglobin) in keratin gene clusters. Linkage analysis also excluded the possibility of causative mutations in the epidermal differentiation complex on 1q, desmoplakin gene on 6p and desmosomal cadherin gene cluster on 18q regions. Other genes encoding proteins interacting with keratins might be pathogenic in this rare disease and should be studied further.

  16. Topographic and biomechanical evaluation of cornea in patients with ichthyosis vulgaris.

    Science.gov (United States)

    Kara, Necip; Yildirim, Yusuf; Demircan, Ali; Cankaya, Ilker; Kutlubay, Zekayi; Engin, Burhan; Serdaroglu, Server

    2012-10-01

    To compare the topographic and biomechanical properties of corneas in eyes of patients with ichthyosis vulgaris (IV) and eyes of healthy individuals. Thirty healthy individuals (control group) and 30 patients with IV (study group) were enrolled in this prospective study. Topographic measurements, including keratometry values, irregularity, and surface asymmetry index in the right eye of each participant were obtained using Scheimpflug camera with a Placido disc topographer (Sirius). Corneal hysteresis (CH), corneal resistance factor (CRF), corneal-compensated intraocular pressure (IOPcc) and Goldman-related intraocular pressure (IOPg) were measured using the Reichert Ocular Response Analyzer (ORA). Central corneal thickness (CCT) was also measured with ultrasonic pachymetry and the Sirius corneal topography system. Topographic parameters were not significantly different between both groups (p>0.05). Although mean CH was not significantly different between the groups, the CRF was significantly lower in patients with IV (p=0.249 and p=0.005, respectively). The CCT was significantly lower in patients with IV compared to healthy controls (pbiomechanical properties such CRF and CCT and IOP values such as IOPg and IOPcc were significantly lower in patients with IV. These results should be taken into account when planning a corneal refractive surgery and glaucoma screening for patients with IV. Copyright © 2012 British Contact Lens Association. Published by Elsevier Ltd. All rights reserved.

  17. Cochlear Implantation in Patients with Keratitis-Ichthyosis-Deafness Syndrome: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Birgul Gumus

    2017-01-01

    Full Text Available Background. Keratitis-ichthyosis-deafness (KID syndrome is a syndrome which presents with hearing loss and visual and keratinization disorders. In such patients, hearing aids cannot be effectively used in the rehabilitation of hearing loss because of the frequent blockage of the external ear canal with epithelial debris and due to dry and tense skin of the external ear canal. Moreover, severe or profound hearing loss also limits the benefits gained from the conventional hearing aids. On the other hand, cochlear implantation is a method that has been used in limited cases in the literature. Case Report. This study presents the results of cochlear implantation applied in our clinic to two children who had been diagnosed with KID. Audiological assessments before and after the cochlear implant operation were performed using pure-tone audiometry, immittance audiometry, and auditory brainstem response (ABR, and the postoperative follow-up was conducted using pure-tone audiometry. Conclusion. Skin problems, visual disturbances, and other additional problems complicate the short-term and long-term rehabilitation after implantation in individuals with KID syndrome. Close monitoring should be exercised due to possible skin complications that may develop during the postoperative period. The families and rehabilitation teams should be warned about the possible visual disturbances and skin complications.

  18. Química organometálica de superfície aplicada à preparação de catalisadores heterogêneos bem definidos Surface organometallic chemistry applied to the preparation of well defined heterogeneous catalysts

    Directory of Open Access Journals (Sweden)

    Silvana I. Wolke

    2002-11-01

    Full Text Available The study of the reactions of organometallic complexes with the surfaces of inorganic oxides, zeolites and metals constitutes the basis of Surface Organometallic Chemistry (SOMC. The basic rules of organometallic chemistry are often valid when applied to surfaces and well-defined surface organometallic complexes can be obtained. These complexes can be used as heterogeneous catalysts or, by controlled reactions, can be transformed in other species useful for a given catalytic reaction. In some cases, these catalysts exhibit higher activity and/or selectivity than their analogous molecular complexes.

  19. WMe6 tamed by silica: Si-O-WMe5 as an efficient, well-defined species for alkane metathesis, leading to the observation of a supported W-methyl/methylidyne species

    KAUST Repository

    Samantaray, Manoja

    2014-01-22

    The synthesis and full characterization of a well-defined silica-supported ≡Si-O-W(Me)5 species is reported. Under an inert atmosphere, it is a stable material at moderate temperature, whereas the homoleptic parent complex decomposes above -20 °C, demonstrating the stabilizing effect of immobilization of the molecular complex. Above 70 °C the grafted complex converts into the two methylidyne surface complexes [(≡SiO-)W(≡CH) Me2] and [(≡SiO-)2W(≡CH)Me]. All of these silica-supported complexes are active precursors for propane metathesis reactions. © 2013 American Chemical Society.

  20. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred.

    Science.gov (United States)

    Ming, Andrew; Happle, Rudolf; Grzeschik, Karl-Heinz; Fischer, Gayle

    2009-01-01

    Ichthyosis follicularis, alopecia and photophobia (IFAP) is a rare genodermatosis. Most patients have been men without significant family history. We present the largest kindred of IFAP reported to date in the medical literature clearly demonstrating X-linked inheritance. The gene defect has recently been mapped to Xp22.11-p22.13. Missense mutations of the gene, MBTPS2, which codes for an intramembrane zinc metalloprotease essential for cholesterol homeostasis and endoplasmic reticulum stress response, are associated with the IFAP phenotype in this kindred. We describe the clinical features and discuss the differential diagnosis of IFAP. Our proband has benefited from treatment with acitretin.

  1. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

    Science.gov (United States)

    Gohlke, B C; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, G A; Haverkamp, F

    2000-08-01

    We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

  2. Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy

    OpenAIRE

    Gohlke, B; Haug, K; Fukami, M; Friedl, W; Noeker, M; Rappold, G; Haverkamp, F.

    2000-01-01

    We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narro...

  3. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  4. 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...

  5. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    DEFF Research Database (Denmark)

    Zazo Seco, Celia; Castells-Nobau, Anna; Joo, Seol-Hee

    2017-01-01

    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous no...

  6. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes.

    Science.gov (United States)

    Oyama, N; Satoh, M; Iwatsuki, K; Kaneko, F

    2000-06-01

    X-linked ichthyosis is caused by steroid sulfatase deficiency which results from abnormalities in its coding gene. The majority of X-linked ichthyosis patients ( approximately 90%) have complete or partial deletions of the steroid sulfatase gene. In this study, we examined the mutations of the steroid sulfatase gene in two unrelated X-linked ichthyosis patients without complete deletion of the gene. Polymerase chain reaction-single-strand conformation polymorphism and direct sequencing analyses showed that each patient has a different single base pair substitution within exon 8 encoding the C-terminal half of the steroid sulfatase polypeptide. Both mutations resulted in the transversion of functional amino acids: a G-->C substitution at nucleotide 1344, causing a predicted change of a glycine to an arginine, and a C-->T substitution at nucleotide 1371, causing a change from a glutamine to a stop codon. In vitro steroid sulfatase cDNA expression using site-directed mutagenesis revealed that these mutations are in fact pathogenic and reflect the levels of steroid sulfatase enzyme activities in each of the X-linked ichthyosis patients.

  7. Alkane metathesis with the tantalum methylidene [(≡SiO)Ta(=CH2)Me2]/[(≡SiO)2Ta(=CH2)Me] generated from well-defined surface organometallic complex [(≡SiO)TaVMe4

    KAUST Repository

    Chen, Yin

    2015-01-21

    By grafting TaMe5 on Aerosil700, a stable, well-defined, silica-supported tetramethyl tantalum(V) complex, [(≡SiO)TaMe4], is obtained on the silica surface. After thermal treatment at 150 °C, the complex is transformed into two surface tantalum methylidenes, [(≡SiO)2Ta(=CH2)Me] and [(≡SiO)Ta(=CH2)Me2], which are active in alkane metathesis and comparable to the previously reported [(≡SiO)2TaHx]. Here we present the first experimental study to isolate and identify a surface tantalum carbene as the intermediate in alkane metathesis. A systematic experimental study reveals a new reasonable pathway for this reaction.

  8. [Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].

    Science.gov (United States)

    Huang, Ji-Wei; Tang, Ning; Li, Wu-Gao; Li, Zhe-Tao; Luo, Shi-Qiang; Li, Jing-Wen; Huang, Jun; Yan, Ti-Zhen

    2016-11-01

    X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identified a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX: 6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband's mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.

  9. Segregation analysis in X-linked ichthyosis: paternal transmission of the affected X-chromosome.

    Science.gov (United States)

    Toral-Lopez, J; González-Huerta, L M; Cuevas-Covarrubias, S A

    2008-04-01

    Steroid sulphatase (STS) deficiency has been described in a diversity of ethnic populations. The phenotype of STS deficiency, X-linked ichthyosis (XLI), is a genodermatosis characterized by dark scaly skin. About 90% of patients with XLI have complete deletion of the entire STS gene and flanking sequences. The variable number tandem repeats, on either side of the STS gene, appear to play an important role in these interstitial deletions due to nonallelic homologous recombination (NAHR). It is difficult to establish if this NAHR occurs between two chromosomes, between sister chromatids or between the same chromatid. To identify the parental origin of the affected X-chromosome in seven unrelated sporadic cases of XLI. Amplification of the regions from DXS89 to DXS1134 (telomeric-centromeric) including the 5' and 3' ends of the STS gene was performed through polymerase chain reaction. GeneScan analysis was performed using the DXS987, DXS8051 and DXS1060 markers located on the short arm of the X-chromosome. Fluorescence in situ hybridization analysis was performed with a digoxigenin-labelled cDNA STS probe. STS gene deletion in patients with XLI involved the sequences DXS1139 and DXF22S1. In five families segregation analysis showed paternal transmission of the affected X-chromosome in the XLI carrier. It was not possible to determine the parental origin of the affected X-chromosome in two families. These data strongly suggest that STS gene deletion occurred in the male meiosis probably due to an intrachromosomal event, recombination between S232 sequences on the same DNA molecule, or during the process of DNA replication.

  10. A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

    Science.gov (United States)

    Gutierrez, Jeydith A; Hannoush, Zeina C; Vargas, Luis G; Momany, Allison; Garcia, Carmen C; Murray, Jeffrey C; Dunnwald, Martine

    2013-01-01

    Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only four mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All of them affect the 2B domain of KRT10. In the present study, we describe four patients with EI (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic, and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA was sequenced for KRT10 and KRT1. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT10 demonstrated a nonsense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT10 is the first recessive genetic variation that is not located in the so called “hot spot” for recessive EI, suggesting that other areas of the gene are also susceptible for such mutations. PMID:23957016

  11. Structure-specific adipogenic capacity of novel, well-defined ternary Zn(II)-Schiff base materials. Biomolecular correlations in zinc-induced differentiation of 3T3-L1 pre-adipocytes to adipocytes.

    Science.gov (United States)

    Tsave, O; Halevas, E; Yavropoulou, M P; Kosmidis Papadimitriou, A; Yovos, J G; Hatzidimitriou, A; Gabriel, C; Psycharis, V; Salifoglou, A

    2015-11-01

    Among the various roles of zinc discovered to date, its exogenous activity as an insulin mimetic agent stands as a contemporary challenge currently under investigation and a goal to pursue in the form of a metallodrug against type 2 Diabetes Mellitus. Poised to investigate the adipogenic potential of Zn(II) and appropriately configure its coordination sphere into well-defined anti-diabetic forms, (a) a series of new well-defined ternary dinuclear Zn(II)-L (L=Schiff base ligands with a variable number of alcoholic moieties) compounds were synthesized and physicochemically characterized, (b) their cytotoxicity and migration effect(s) in both pre- and mature adipocytes were assessed, (c) their ability to effectively induce cell differentiation of 3T3-L1 pre-adipocytes into mature adipocytes was established, and (d) closely linked molecular targets involving or influenced by the specific Zn(II) forms were perused through molecular biological techniques, cumulatively delineating factors involved in Zn(II)-induced adipogenesis. Collectively, the results (a) reveal the significance of key structural features of Schiff ligands coordinated to Zn(II), thereby influencing its (a)toxicity behavior and insulin-like activity, (b) project molecular targets influenced by the specific forms of Zn(II) formulating its adipogenic potential, and (c) exemplify the interwoven relationship between Zn(II)-L structural speciation and insulin mimetic biological activity, thereby suggesting ways of fine tuning structure-specific zinc-induced adipogenicity in future efficient antidiabetic drugs. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Well-Defined Surface Species [(≡Si - O -)W(=O)Me3] Prepared by Direct Methylation of [(≡Si - O -)W(=O)Cl3], a Catalyst for Cycloalkane Metathesis and Transformation of Ethylene to Propylene

    KAUST Repository

    Hamieh, Ali Imad Ali

    2015-04-03

    The silica-supported tungsten oxo-trimethyl complex [(≡Si - O -)W(=O)Me3] was synthesized using a novel SOMC synthetic approach. By grafting the inexpensive stable compound WOCl4 on the surface of silica, partially dehydroxylated at 700 °C (SiO2-700), a well-defined monopodal surface complex [(≡Si - O -)W(=O)Cl3] was produced. The supported complex directly methylated with ZnMe2 and transformed into [(≡Si - O -)W(=O)Me3], which we fully characterized by microanalysis, IR, mass balance and SS NMR (1H, 13C, 1H-13C HETCOR, 1H-1H DQ and TQ). [(≡Si - O)W(=O)Me3] has two conformational isomers on the surface at room temperature. The conversion of one to the other was observed at 318 K by variable-temperature 13C CP/MAS and 1H spin echo MAS solid-state NMR; this was also confirmed by NMR and DFT calculations. [(≡Si - O)W(=O)Me3] was found to be active in cyclooctane metathesis and to have a wide distribution range in ring-contracted and ring-expanded products. In addition, [(≡Si - O)W(=O)Me3] proved to be highly active for selective transformation of ethylene to propylene compared to other silica-supported organometallic complexes. (Chemical Equation Presented). © 2015 American Chemical Society.

  13. Room temperature one-step synthesis of microarrays of N-doped flower-like anatase TiO2 composed of well-defined multilayer nanoflakes by Ti anodization

    Science.gov (United States)

    Wang, Chenglin; Wang, Mengye; Xie, Kunpeng; Wu, Qi; Sun, Lan; Lin, Zhiqun; Lin, Changjian

    2011-07-01

    Microarrays of N-doped flower-like TiO2 composed of well-defined multilayer nanoflakes were synthesized at room temperature by electrochemical anodization of Ti in NH4F aqueous solution. The TiO2 flowers were of good anatase crystallinity. The effects of anodizing time, applied voltage and NH4F concentration on the flower-like morphology were systematically examined. It was found that the morphologies of the anodized Ti were related to the anodizing time and NH4F concentration. The size and density of the TiO2 flowers could be tuned by changing the applied voltage. The obtained N-doped flower-like TiO2 microarrays exhibited intense absorption in wavelengths ranging from 320 to 800 nm. Under both UV and visible light irradiation, the photocatalytic activity of the N-doped flower-like TiO2 microarrays in the oxidation of methyl orange showed a significant increase compared with that of commercial P25 TiO2 film.

  14. 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.

  15. 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...

  16. Congenital cytomegalovirus infection

    OpenAIRE

    D'Oronzio, U; Arlettaz, R.; Hagmann, C.

    2015-01-01

    Clinical details of 50 infants with congenital cytomegalovirus infection identified in a prospective study are reported. The mean birthweight, gestational age, and head circumference of children with congenital cytomegalovirus infection were not significantly different from those of controls. Three (6%) had symptoms at birth--two neurological and one pneumonitis. In the first four months of life transient hepatosplenomegaly occurred in two infected children and six suffered interstitial pneum...

  17. 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. © 2016 Wiley Periodicals, Inc.

  18. Fetus papyraceus: congenital pulmonary anomalies associated with congenital aplasia cutis on the surviving twin.

    Science.gov (United States)

    Louise, Lagier; Annabel, Maruani; Hubert, Lardy; Isabelle, Gibertini; Gerard, Lorette

    2013-01-01

    Aplasia cutis congenita (ACC) can be associated with fetus papyraceus. We report here the first case of ACC linked to fetus papyraceus with pulmonary anomalies. At birth, the patient presented with skin lesions of the trunk consisting of well-defined, symmetrically distributed, bilateral atrophic ulcerations. Physical examination was otherwise normal. Persistent bronchospasm occurred at the age of 7 months; computed tomography images showed small bilateral pulmonary bullae. At the age of 5 years, skin and pulmonary lesions had not extended. Although the mechanisms of ACC linked to fetus papyraceus are unclear, vascular ischemia is strongly suggested, and could explain the bilateral and symmetric congenital skin and lung aplasia. © 2013 Wiley Periodicals, Inc.

  19. Synthesis and characterization of novel liquid-crystalline azo-dyes bearing two amino-nitro substituted azobenzene units and a well-defined, oligo(ethylene glycol) spacer

    Energy Technology Data Exchange (ETDEWEB)

    Caicedo, Carolina [Instituto de Investigaciones en Materiales, Universidad Nacional Autonoma de Mexico, Circuito Exterior, Ciudad Universitaria, C.P. 04510 Mexico D.F. (Mexico); Rivera, Ernesto, E-mail: riverage@iim.unam.mx [Instituto de Investigaciones en Materiales, Universidad Nacional Autonoma de Mexico, Circuito Exterior, Ciudad Universitaria, C.P. 04510 Mexico D.F. (Mexico); Valdez-Hernandez, Yazmin; Carreon-Castro, Maria del Pilar [Instituto de Ciencias Nucleares, Universidad Nacional Autonoma de Mexico, Circuito Exterior, Ciudad Universitaria, C.P. 04510 Mexico D.F. (Mexico)

    2011-10-17

    Highlights: {yields} Novel dyes containing azobenzene and oligo(ethylene glycol) were synthesized. {yields} Absorption spectra of RED-PEG dyes in CHCl{sub 3} showed {lambda}{sub max} = 440-480 nm. {yields} Absorption spectra of RED-PEG dyes in film revealed the formation of H-aggregates. {yields} Their liquid-crystalline behaviour was confirmed by light polarized microscopy. {yields} These liquid-crystalline dyes can form Langmuir films on the air-water interface. - Abstract: Four novel liquid-crystalline azo-dyes bearing two amino-nitro substituted azobenzene units linked by a well-defined oligo(ethylene glycol) spacer (DIRED-PEG series): (E)-N,N'-(2,2'-oxybis(ethane-2,1-diyl))bis(N-methyl-4-((E)-(4-nitrophenyl) diazenyl) benzenamine) (DIRED-PEG-2), (E)-N,N'-(2,2'-(ethane-1,2-diylbis(oxy)) bis(ethane-2,1-diyl)) bis(N-methyl-4-((E)-(4-nitrophenyl) diazenyl) benzenamine) (DIRED-PEG-3), (E)-N,N'-(2,2'-(2,2'-oxybis (ethane-2,1-diyl) bis(oxy)) bis(ethane-2,1-diyl)) bis(N-methyl-4-((E)-(4-nitrophenyl) diazenyl) benzenamine) (DIRED-PEG-4) and N1,N17-dimethyl-N1,N17-bis (4-((E)-(4-nitrophenyl) diazenyl) phenyl)-3,6,9,12,15-pentaoxaheptadecane-1,17-diamine (DIRED-PEG-6) have been synthesized. These dyes were fully characterized by FTIR, {sup 1}H and {sup 13}C NMR spectroscopies, and their thermal and optical properties were studied. Besides, the liquid-crystalline behaviour of these compounds was monitored in function of the temperature by light polarized microscopy. Finally, Langmuir films were prepared with these dyes.

  20. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

    BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To identify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive ...

  1. Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis.

    Science.gov (United States)

    Song, Yijin; Chen, Jing; Yi, Zhuwen; Dang, Xiqiang; Cheng, Dehua; Wu, Xiaochuan; Tan, Yueqiu

    2013-10-01

    In this study, we report the case of a 12-year-old male with X-linked ichthyosis (XLI) in association with glomerular sclerosis, and our investigation into the deletion pattern of the STS gene and the flanking regions in DNA samples of family members. We observed no features typical of renal osteodystrophy or rickets, with the exception of short stature, in the three afffected male family members. Audiometry, visual acuity and olfactory sensation were normal. By performing PCR analysis of the steroid sulfatase (STS) gene and flanking regions on our patients, we discovered a complete deletion that involved the entire region from DXS1139 to DXF22S1. Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI.

  2. Prenatal diagnosis for placental steroid salfatase deficiency with fluorescence in situ hybridization: a case of X-linked ichthyosis.

    Science.gov (United States)

    Watanabe, Takafumi; Fujimori, Keiya; Kato, Katsuhiko; Nomura, Yasuhisa; Onogi, Satoshi; Sato, Akira

    2003-12-01

    X-linked ichthyosis (XLI) is a relatively common genetic disorder that occurs in about one in every 2000-6000 male births. Clinically, XLI is characterized by a generalized scaling of the skin, with large, polygonal, dark brown scale, and more prominent on the extensor aspects of the limbs. It is known that an undetectable maternal serum, unconjugated estriol, associated with placental steroid sulfatase (STS) deficiency, may be the cause of cause of XLI. In most case, STS deficiency is caused by a complete or partial deletion of the STS gene mapped on chromosome Xp22.3. We describe here the prenatal detection of a male fetus affected with STS deficiency as a result of an undetectable unconjugated estriol in the second-trimester maternal serum screening. Microdeletion of the STS gene was confirmed by fluorescence in situ hybridization analysis of cultured amniotic fluid.

  3. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene.

    Science.gov (United States)

    Sugawara, T; Shimizu, H; Hoshi, N; Fujimoto, Y; Nakajima, A; Fujimoto, S

    2000-03-01

    X-linked ichthyosis (XLI) is an inherited skin disorder due to deficiency of steroid sulfatase (STS) activity. XLI has been diagnosed by assaying STS activity in placenta or lymphocytes of patients after birth. Most patients have a large deletion of the STS gene, generated by inaccurate recombination at the STS locus. However, point mutations in the STS gene have been reported in some patients with complete STS deficiency. In a new case of STS deficiency, we identified an STS missense mutation, Glu560Pro or E560P. This new point mutation suggests that the C-terminal region of the STS enzyme is important for STS enzymatic function. Hum Mutat 15:296, 2000. Copyright 2000 Wiley-Liss, Inc.

  4. Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation.

    Science.gov (United States)

    Hosomi, Naoko; Oiso, Naoki; Fukai, Kazuyoshi; Hanada, Kazushi; Fujita, Hiroko; Ishii, Masamitsu

    2007-01-01

    X-linked ichthyosis (XLI) is caused by deficiency of steroid sulfatase (STS) activity. About 90% XLI patients have large deletions involving the entire STS gene and flanking regions. Recently, VCXA, which is located approximately 0.7Mb telomeric to the STS gene, was reported as a candidate gene for mental retardation (MR) in patients with XLI. To delineate the X-chromosomal deletion of a XLI patient with borderline mental retardation. We carried out FISH analysis to show that the whole STS gene is deleted, and PCR analysis for fine-scale deletion mapping. The deleted segment is approximately 1.6Mb in size, and includes the entire STS and VCXB1 genes. VCXA itself is intact, but its promoter is deleted. A deletion that includes the VCXA promoter is associated with borderline mental retardation in a patient with XLI.

  5. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.

    Science.gov (United States)

    Arin, M J; Oji, V; Emmert, S; Hausser, I; Traupe, H; Krieg, T; Grimberg, G

    2011-02-01

    Epidermolytic ichthyosis (EI) is a hereditary keratinization disorder caused by mutations in the keratin 1 (KRT1) or keratin 10 (KRT10) genes. In most cases of severe EI, heterozygous single point mutations are found at the highly conserved helix boundary motifs of KRT1 and KRT10 that play a critical role in filament formation. The presence of palmoplantar keratoderma suggests KRT1 mutations, whereas KRT10 mutations in most instances give rise to the nonpalmoplantar variants. To identify the underlying mutations in patients with EI and to correlate genotype and phenotype. Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes. We identified 14 different mutations, of which four have not been published previously. Identification of novel mutations and genotype-phenotype correlations in EI allows improved understanding of disease pathogenesis as well as better patient management. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.

  6. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.

    Directory of Open Access Journals (Sweden)

    Mårten C G Winge

    Full Text Available BACKGROUND: Several common genetic and environmental disease mechanisms are important for the pathophysiology behind atopic dermatitis (AD. Filaggrin (FLG loss-of-function is of great significance for barrier impairment in AD and ichthyosis vulgaris (IV, which is commonly associated with AD. The molecular background is, however, complex and various clusters of genes are altered, including inflammatory and epidermal-differentiation genes. OBJECTIVE: The objective was to study whether the functional and molecular alterations in AD and IV skin depend directly on FLG loss-of-function, and whether FLG genotype determines the type of downstream molecular pathway affected. METHODS AND FINDINGS: Patients with AD/IV (n = 43 and controls (n = 15 were recruited from two Swedish outpatient clinics and a Swedish AD family material with known FLG genotype. They were clinically examined and their medical history recorded using a standardized questionnaire. Blood samples and punch biopsies were taken and trans-epidermal water loss (TEWL and skin pH was assessed with standard techniques. In addition to FLG genotyping, the STS gene was analyzed to exclude X-linked recessive ichthyosis (XLI. Microarrays and quantitative real-time PCR were used to compare differences in gene expression depending on FLG genotype. Several different signalling pathways were altered depending on FLG genotype in patients suffering from AD or AD/IV. Disease severity, TEWL and pH follow FLG deficiency in the skin; and the number of altered genes and pathways are correlated to FLG mRNA expression. CONCLUSIONS: We emphasize further the role of FLG in skin-barrier integrity and the complex compensatory activation of signalling pathways. This involves inflammation, epidermal differentiation, lipid metabolism, cell signalling and adhesion in response to FLG-dependent skin-barrier dysfunction.

  7. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris.

    Science.gov (United States)

    Winge, Mårten C G; Hoppe, Torborg; Berne, Berit; Vahlquist, Anders; Nordenskjöld, Magnus; Bradley, Maria; Törmä, Hans

    2011-01-01

    Several common genetic and environmental disease mechanisms are important for the pathophysiology behind atopic dermatitis (AD). Filaggrin (FLG) loss-of-function is of great significance for barrier impairment in AD and ichthyosis vulgaris (IV), which is commonly associated with AD. The molecular background is, however, complex and various clusters of genes are altered, including inflammatory and epidermal-differentiation genes. The objective was to study whether the functional and molecular alterations in AD and IV skin depend directly on FLG loss-of-function, and whether FLG genotype determines the type of downstream molecular pathway affected. Patients with AD/IV (n = 43) and controls (n = 15) were recruited from two Swedish outpatient clinics and a Swedish AD family material with known FLG genotype. They were clinically examined and their medical history recorded using a standardized questionnaire. Blood samples and punch biopsies were taken and trans-epidermal water loss (TEWL) and skin pH was assessed with standard techniques. In addition to FLG genotyping, the STS gene was analyzed to exclude X-linked recessive ichthyosis (XLI). Microarrays and quantitative real-time PCR were used to compare differences in gene expression depending on FLG genotype. Several different signalling pathways were altered depending on FLG genotype in patients suffering from AD or AD/IV. Disease severity, TEWL and pH follow FLG deficiency in the skin; and the number of altered genes and pathways are correlated to FLG mRNA expression. We emphasize further the role of FLG in skin-barrier integrity and the complex compensatory activation of signalling pathways. This involves inflammation, epidermal differentiation, lipid metabolism, cell signalling and adhesion in response to FLG-dependent skin-barrier dysfunction.

  8. Congenital Malaria in China

    Science.gov (United States)

    Liu, Xue; Culleton, Richard; Tao, Li; Xia, Hui; Gao, Qi

    2014-01-01

    Abstract Background Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum–endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax–endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. Methods/Principal Findings Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%), reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients were cured

  9. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis

    Energy Technology Data Exchange (ETDEWEB)

    Ballabio, A.; Parenti, G.; Carrozzo, R.; Sebastio, G.; Andria, G.; Buckle, V.; Fraser, N.; Craig, I.; Rocchi, M.; Romeo, G.; Jobsis, A.C.; Persico, M.G.

    1987-07-01

    The authors have isolated several cDNA clones from a lambdagt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.

  10. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  11. Congenital Diseases of the Intestine

    NARCIS (Netherlands)

    D. Halim (Danny)

    2016-01-01

    markdownabstractAll research described in this dissertation is focused on understanding the pathophysiology of three rare congenital diseases of the intestine, including megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS), congenital short bowel syndrome (CSBS), and hereditary multiple

  12. Well-defined critical association concentration and rapid adsorption at the air/water interface of a short amphiphilic polymer, amphipol A8-35: a study by Förster resonance energy transfer and dynamic surface tension measurements.

    Science.gov (United States)

    Giusti, Fabrice; Popot, Jean-Luc; Tribet, Christophe

    2012-07-17

    Amphipols (APols) are short amphiphilic polymers designed to handle membrane proteins (MPs) in aqueous solutions as an alternative to small surfactants (detergents). APols adsorb onto the transmembrane, hydrophobic surface of MPs, forming small, water-soluble complexes, in which the protein is biochemically stabilized. At variance with MP/detergent complexes, MP/APol ones remain stable even at extreme dilutions. Pure APol solutions self-associate into well-defined micelle-like globules comprising a few APol molecules, a rather unusual behavior for amphiphilic polymers, which typically form ill-defined assemblies. The best characterized APol to date, A8-35, is a random copolymer of acrylic acid, isopropylacrylamide, and octylacrylamide. In the present work, the concentration threshold for self-association of A8-35 in salty buffer (NaCl 100 mM, Tris/HCl 20 mM, pH 8.0) has been studied by Förster resonance energy transfer (FRET) measurements and tensiometry. In a 1:1 mol/mol mixture of APols grafted with either rhodamine or 7-nitro-1,2,3-benzoxadiazole, the FRET signal as a function of A8-35 concentration is essentially zero below a threshold concentration of 0.002 g·L(-1) and increases linearly with concentration above this threshold. This indicates that assembly takes place in a narrow concentration interval around 0.002 g·L(-1). Surface tension measurements decreases regularly with concentration until a threshold of ca. 0.004 g·L(-1), beyond which it reaches a plateau at ca. 30 mN·m(-1). Within experimental uncertainties, the two techniques thus yield a comparable estimate of the critical self-assembly concentration. The kinetics of variation of the surface tension was analyzed by dynamic surface tension measurements in the time window 10 ms-100 s. The rate of surface tension decrease was similar in solutions of A8-35 and of the anionic surfactant sodium dodecylsulfate when both compounds were at a similar molar concentration of n-alkyl moieties. Overall, the

  13. Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP: report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment

    Directory of Open Access Journals (Sweden)

    Luisa Moreira Höpker

    2011-02-01

    Full Text Available Ichthyosis follicular, alopecia, and photophobia (IFAP syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, superficial and deep corneal vascularization and myopia. He was treated with artificial tears and punctal occlusion with small improvement of photophobia. After three months using systemic retinoid (Acitretina and posterior amniotic membrane transplantation in the left eye, there was a significant improvement of photophobia, corneal erosions and neuropsychomotor development.

  14. Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype.

    Science.gov (United States)

    Scalais, Emmanuel; Connerotte, Anne-Catherine; Despontin, Karine; Biver, Armand; Ceuterick-de Groote, Chantal; Alders, Marielle; Kolivras, Athanassios; Hachem, Jean-Pierre; De Meirleir, Linda

    2016-07-01

    Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia. Ultrasonography (US) showed pancreatic diffuse high echogenicity. Subsequently fasting hypoketotic hypoglycemia occurred without permanent hepatomegaly or hyperlipidemia. Continuous gavage feeding was followed by clinical improvement including ichthyosis and hypoglycemia. After 14 months of age, she developed persistent neutropenia and ePI consistent with SDS. The ichthyotic skin biopsy, performed at 5 months of age, disclosed iLDs in all epidermal layers, in melanocytes, eccrine sweat glands, Schwann cells and dermal fibroblasts. These iLDs were reminiscent of those described in Dorfman-Chanarin syndrome (DCS) or Wolman's disease. Both LIPA and CGI-58 analysis did not revealed pathogenic mutation. By sequencing SBDS, a compound heterozygous for a previously reported gene mutation (c.258 + 2T>C) and a novel mutation (c.284T>G) were found. Defective SBDS may hypothetically interfere as in DCS, with neutral lipid metabolism and play a role in the SDS phenotype such as ichthyosis with dermal and epidermal iLDs and hypoglycemia. This interference with neutral lipid metabolism must most likely occur in the cytoplasm compartment as in DCS and not in the lysosomal compartment as in Wolman's disease. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  15. Ichthyosis follicularis, alopecia and photophobia syndrome (IFAP): report of the first case with ocular and cutaneous manifestations in Brazil with a favorable response to treatment.

    Science.gov (United States)

    Höpker, Luisa Moreira; Ribeiro, Christie Graf; Oliveira, Luciane Moreira; Moreira, Ana Tereza Ramos

    2011-01-01

    Ichthyosis follicular, alopecia, and photophobia (IFAP) syndrome is a rare disease, with possible X-linked mode of inheritance. The patient presented with ocular findings of photophobia, corneal scarring and erosions, superficial and deep corneal vascularization and myopia. He was treated with artificial tears and punctal occlusion with small improvement of photophobia. After three months using systemic retinoid (Acitretina) and posterior amniotic membrane transplantation in the left eye, there was a significant improvement of photophobia, corneal erosions and neuropsychomotor development.

  16. 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.

  17. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    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.

  19. Congenital syphilis in the newborn.

    OpenAIRE

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

    1988-01-01

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

  20. Congenital 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.

  1. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...... 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....

  3. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  4. 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.

  5. 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.

  6. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  7. Histopathological and immunohistochemical assessment of acquired ichthyosis in patients with human T-cell lymphotropic virus type I-associated myelopathy.

    Science.gov (United States)

    Milagres, S P; Sanches, J A; Milagres, A C P; Valente, N Y S

    2003-10-01

    Patients with human T-cell lymphotropic virus type I (HTLV-I)-associated myelopathy frequently display cutaneous alterations such as acquired ichthyosis. Elucidation of the pattern of acquired ichthyosis in HTLV-I-associated myelopathy. Skin fragments from 10 patients with HTLV-I-associated myelopathy presenting with acquired ichthyosis were assessed by histopathological and immunohistochemical tests. We used anticytokeratin antibodies related to normal keratinization (K1/K10), and others related to cutaneous conditions such as activation, migration and hyperproliferation of keratinocytes (K6/K16), and involucrin, a precursor protein in the formation of the protein envelope in keratinocytes. For quantification of the proliferating basal and parabasal cells the anti-Ki-67 antibody was employed. On light microscopy, all skin specimens displayed orthokeratotic hyperkeratosis and hypogranulosis. Three of them presented focal parakeratosis. A slight to moderate perivascular infiltrate of mononuclear lymphocytes was observed in seven cases, three of which showed discrete spongiosis with epidermotropism of lymphocytes. All fragments displayed coexpression of K1, K10 and K16 in the suprabasal layers. Expression of involucrin was also observed in all cases, in the upper spinous and granular layers. Focal expression of K6 was observed in three cases, under a parakeratotic area. The mean number of Ki-67+ basal and parabasal cells was 3.5 cells per mm, similar to that in control skin. In acquired ichthyosis related to HTLV-I-associated myelopathy, histopathology revealed orthokeratotic hyperkeratosis and a perivascular inflammatory infiltrate of mononuclear lymphocytes, with areas of parakeratosis and foci of epidermotropism in rare cases. The expression profiles of K1, K10 and involucrin were similar to those in normal skin. The diffuse coexpression of K16 with K1 and K10 throughout the analysed epidermis, as well as the occurrence of restricted areas of parakeratosis

  8. Congenital Lumbar Hernia

    OpenAIRE

    Sanjay Sharma; Gagan Bali; Satish Parihar; Neeraj Koul

    2008-01-01

    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 URETHROPERINEAL FISTULA: REPORT

    African Journals Online (AJOL)

    CONGENiTAL URETHROPERINEAL FISTULA l8 A'DISTINCT TYPE OF URETHRAL DUPLlCATION. gram revealed a normal dorsal urethra and failed to opacity the fistulous tract, but the fis- tula was demonstrated by injection of contrast through the perineal orifice (tistulogram). Cystourethroscopy revealed a normal dor~.

  10. Congenital heart disease

    Science.gov (United States)

    ... for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems. Poorly ... medicines. Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible ...

  11. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    INTRODUCTION. Mild degrees of congenital lymphoedema are considered common in the normal population, reflecting normal developmental variability in the regression of the lymphoedema present in every fetus before birth (1). The most common clinical causes of lymphedema are generally not inherited, occurring as.

  12. 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.”

  13. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

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

  14. Multiple congenital cranial hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    Koulouris, George [Alfred Hospital, Department of Radiology, Prahran, Victoria (Australia); Rao, Padma [Royal Children' s Hospital, Department of Radiology, Parkville, Victoria (Australia)

    2005-08-01

    Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

  15. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    the intestines, but were also found in the pleura, pericardium, thyroid gland, and kidney. Several patients demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features were variable, and were chiefly characterised, in a typical patient, ...

  16. Congenital Heart Defects

    Science.gov (United States)

    ... of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the ... and heart transplants. The treatment depends on the type of the defect, how ... and general health. NIH: National Heart, Lung, and Blood Institute

  17. Congenital aggressive lipomatosis

    Energy Technology Data Exchange (ETDEWEB)

    Lachmann, R.S.; Mehringer, C.M.; Finklestein, J.; Maenza, R.

    1983-05-01

    Three cases of congenital lipomatosis involving the thoracic region posteriorly are presented delineating the natural history of the disease and depicting underlying bone and soft tissue changes. The rib widening and pleural thickening appear to be related to increased intercostal vascularity feeding the overlying tumor, as delineated by angiography. This entity is not described in the radiologic literature.

  18. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Congenital afibrinogenaemia (CA), is a rare inherited bleeding disorder characterised by complete deficiency of fibrinogen in the plasma. Blood clotting tests are indefinitely prolonged in patients. The mode of inheritance is autosomal recessive. Typically patients present with excessive cord bleeding after ...

  19. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at Baragwanath Hospital, Johannesburg, was assessed in order to try to establish the prevalence of congenital syphilis and possibly to identify a specific popula- tion at risk. From August 1985 to January 1986 all mothers.

  20. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Johnson Francis

    2016-01-01

    Full Text Available Congenital short QT syndrome (SQTS is characterised by extremely short QT intervals, typically with QTc less than 330 ms and a propensity for life threatening ventricular arrhythmias and atrial fibrillation. The QT interval in SQTS does not change significantly with heart rate and the T waves have a narrow base and high voltage, similar to those in hyperkalemia.

  1. Classic congenital adrenal hyperplasia.

    Science.gov (United States)

    Nermoen, Ingrid; Husebye, Eystein S; Myhre, Anne Grethe; Løvås, Kristian

    2017-04-01

    Congenital adrenal hyperplasia is attributed to inherited enzyme defects in the adrenal cortex. The classical form results in reduced production of cortisol and aldosterone, accompanied by an increase in production of adrenal cortical androgens. This causes virilisation in girls, adrenocortical failure and early puberty in both sexes. This article describes the genetics, clinical picture, diagnostics and treatment.

  2. Prevalence of Congenital Anomalies in an Indian Maternal Cohort: Healthcare, Prevention, and Surveillance Implications.

    Directory of Open Access Journals (Sweden)

    Prajkta Bhide

    need for a well defined national programme with components of prevention, care and surveillance.

  3. The case of ichthyosis follicularis, alopecia and photophobia syndrome with retinal detachment

    Directory of Open Access Journals (Sweden)

    Bengü Nisa Akay

    2014-06-01

    Full Text Available Ichtiyosis follicularis, alopecia and photophobia (IFAP syndrome is a rare congenital ectodermal syndrome with X-linked inheritance. It occurs as a result of missense mutation in chromosome Xp22.11-Xp22.13 locus of MBTPS2 gene. It usually affects men and family history is always negative. Ichtiyosis follicularis and alopecia starts with birth. Photophobia and eye symptoms begin in early infancy or childhood. Other manifestations of the syndrome include short stature, mental retardation and seizures. There are no spesific histopathological findings specific for ichtyosis follicularis. A 29 years old male patient was admitted to outpatient clinic. Dermatological examination revealed keratosis pilaris localized to scalp, extremities and anterolateral of the body. Patient had xerosis, diffuse alopecia and prominent folicular appereance. Eye examination revealed cataracts and vision loss. These findings led us to IFAP syndrome diagnosis. The patient is presented for the rarity of the syndrome in the literature.

  4. 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.

  5. Update on congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Mandal Anil

    2011-12-01

    Full Text Available Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy-trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must.

  6. Update on congenital glaucoma

    Science.gov (United States)

    Mandal, Anil K; Chakrabarti, Debasis

    2011-01-01

    Congenital glaucoma is a global problem and poses a diagnostic and therapeutic challenge to the ophthalmologist. A detailed evaluation under general anesthesia is advisable to establish the diagnosis and plan for management. Medical therapy has a limited role and surgery remains the primary therapeutic modality. While goniotomy or trabeculotomy ab externo is valuable in the management of congenital glaucoma, primary combined trabeculotomy–trabeculectomy offers the best hope of success in advanced cases. Trabeculectomy with antifibrotic agent and glaucoma drainage devices has a role in the management of refractory cases, and cyclodestructive procedures should be reserved for patients where these procedures have failed. Early diagnosis, prompt therapeutic intervention and proper refractive correction are keys to success. Management of residual vision and visual rehabilitation should be an integral part of the management of children with low vision and lifelong follow-up is a must. PMID:21150027

  7. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-01-15

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

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

    Science.gov (United States)

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

    2015-01-01

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

  9. Other congenital abnormalities.

    Science.gov (United States)

    Cobbett, J R

    1974-06-29

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

  10. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    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 ...

  11. Congenital polycythemia in Chuvashia.

    Science.gov (United States)

    Sergeyeva, A; Gordeuk, V R; Tokarev, Y N; Sokol, L; Prchal, J F; Prchal, J T

    1997-03-15

    Familial and congenital polycythemia, not due to high oxygen affinity hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in the Chuvash population of the Russian Federation. Hundreds of individuals appear to be affected in an autosomal recessive pattern. We studied six polycythemic Chuvash patients <20 years of age from unrelated families and 12 first-degree family members. Hemoglobins were markedly elevated in the index subjects (mean +/- standard deviation [SD] of 22.6 +/- 1.4 g/dL), while platelet and white blood cell counts were normal. Although performed in only three of the index subjects, serum erythropoietin concentrations determined by both radioimmune and functional assays were significantly higher in polycythemic patients compared with first-degree family members with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2 erythropoietin gene polymorphism showed that one polycythemic subject was a heterozygote, suggesting the absence of linkage of polycythemia with the erythropoietin gene, assuming autosomal recessive inheritance. Polymerase chain reaction (PCR) amplification of the GGAA and GA minisatellite polymorphic regions of the erythropoietin receptor gene showed no evidence of linkage of phenotype with this gene. We conclude that Chuvash polycythemia may represent a secondary form of familial and congenital polycythemia of as yet unknown etiology. This condition is the only endemic form of familial and congenital polycythemia described.

  12. Atypical X-linked ichthyosis in a patient with a large deletion involving the steroid sulfatase (STS) gene.

    Science.gov (United States)

    Gonzalez-Huerta, Luz; Mendiola-Jimenez, Jaime; Del Moral-Stevenel, Maria; Rivera-Vega, Maria; Cuevas-Covarrubias, Sergio

    2009-02-01

    A 70-year-old male presented with very large, thick, tightly adherent, dark-brown scales on the front of his lower extremities. His face, neck, back, abdomen, upper extremities, flexural areas, palms and soles as well as hair and nails were not involved. Family history was negative for similar lesions. Otherwise, the patient had a normal development. Onset of symptoms occurred during childhood with scales on lower extremities with no more additional features. Treatment included emollients exclusively with partial and temporary remission of cutaneous lesions. Recently, the patient had not received topical or systemic medical treatment. Laboratory investigations were within normal limits. The patient had undetectable levels of STS activity when compared with normal control (0.00 pmol mg(-1) protein h(-1)) which confirmed the diagnosis of X-linked ichthyosis (XLI) . PCR analysis showed deletion of the STS gene, markers DXS1139 and DXF22S1and the 5' end of the VCX3A gene. The patient had scales present on lower extremities only with no medical treatment that corresponded to an unusual clinical manifestation of XLI. Clinical manifestations of XLI are due to a great variety of environmental, genetic and individual factors that should be considered in XLI diagnosis.

  13. A Novel non-sense Mutation in Keratin 10 Causes a Familial Case of Recessive Epidermolytic Ichthyosis.

    Science.gov (United States)

    Gutierrez, Jeydith A; Hannoush, Zeina C; Vargas, Luis G; Momany, Allison; Garcia, Carmen C; Murray, Jeffrey C; Dunnwald, Martine

    2013-07-01

    Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All of them affect the 2B domain of KRT10. In the present study we describe four patients with EI (including one lethal case) born from unaffected parents in a consanguineous family of a native Venezuelan community. The objective of this study was to characterize the clinical, genetic and morphological aspects of the disease in this family, as well as understand its functional implications. Genomic DNA was sequenced for KRT10 and KRT1. Immunofluoresence for keratin expression was performed on cutaneous biopsies. After examination of cutaneous biopsies histology, our results showed hyperkeratosis and acantholysis with an expanded granular layer. Sequencing of KRT10 demonstrated a non-sense mutation (p.Tyr282Ter.) corresponding to the 1B domain of the protein in patients and a heterozygous pattern in other family members, resulting in complete absence of K10. The loss of K10 was compensated by upregulation of K14 and K17. In conclusion, this novel mutation in KRT10 is the first recessive genetic variation that is not located in the so called "hot spot" for recessive EI, suggesting that other areas of the gene are also susceptible for such mutations.

  14. Congenital syphilis, still a reality

    OpenAIRE

    Rajat Gupta; 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.

  15. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

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

  16. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... blood cells. This disorder is one of many types of anemia , which is a condition characterized by a shortage ... link) PubMed OMIM (3 links) ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE ...

  17. Genetics Home Reference: congenital diaphragmatic hernia

    Science.gov (United States)

    ... Home Health Conditions Congenital diaphragmatic hernia Congenital diaphragmatic hernia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, ...

  18. 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.

  19. Early detection of congenital syphilis.

    Science.gov (United States)

    Chowdhary, Nagalakshmi; Rani, Bs Kavya; Mukunda, K S; Kiran, N K

    2014-01-01

    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.

  20. Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.

    Science.gov (United States)

    Shultz, Leonard D; Lyons, Bonnie L; Burzenski, Lisa M; Gott, Bruce; Samuels, Rebecca; Schweitzer, Peter A; Dreger, Christine; Herrmann, Harald; Kalscheuer, Vera; Olins, Ada L; Olins, Donald E; Sperling, Karl; Hoffmann, Katrin

    2003-01-01

    The nature of the wild-type gene product at the mouse ichthyosis (ic) locus has been of great interest because mutations at this locus cause marked abnormalities in nuclear heterochromatin, similar to those observed in Pelger-Huët anomaly (PHA). We recently found that human PHA is caused by mutations in the gene (LBR) encoding lamin B receptor, an evolutionarily conserved inner nuclear membrane protein involved in nuclear assembly and chromatin binding. Mice homozygous for deleterious alleles at the ichthyosis (ic) locus present with a blood phenotype similar to PHA, and develop other phenotypic abnormalities, including alopecia, variable expression of syndactyly and hydrocephalus. The ic locus on mouse chromosome 1 shares conserved synteny with the chromosomal location of the human LBR locus on human chromosome 1. In this study, we identified one nonsense (815ins) and two frameshift mutations (1088insCC and 1884insGGAA) within the Lbr gene of mice homozygous for either of three independent mutations (ic, ic(J) and ic(4J), respectively) at the ichthyosis locus. These allelic mutations are predicted to result in truncated or severely impaired LBR protein. Our studies of mice homozygous for the ic(J) mutation revealed a complete loss of LBR protein as shown by immunofluorescence microscopy and immunoblotting. The findings provide the molecular basis for the heterochromatin clumping and other distinct phenotypes caused by ic mutations. These spontaneous Lbr mutations confirm the molecular basis of human PHA and provide a small animal model for determination of the precise function of LBR in normal and pathological states.

  1. Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis?

    Science.gov (United States)

    Gladstien, K; Shapiro, L J; Spence, M A

    1979-01-01

    We derive the conditional probabilities for estimating the sex ratio in families ascertained through affected males for the study of X-linked recessive diseases. These conditional probabilities correct for the fact that the probability that a family will be ascertained increases with the number of males in the family. Data from four published studies for X-linked ichthyosis vulgaris are analyzed, three having an excess of males and one having a highly statistically significant excess of males. It is not known if this difference in the two samples represents a biological difference between the two populations or an unrecognized ascertainment bias. PMID:517522

  2. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

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

  3. Microgastria: congenital microgastria

    Directory of Open Access Journals (Sweden)

    Nilton Crepaldi Vicente

    Full Text Available The authors report a case of an one-year-old girl with growth retardation, vomiting, aspiration pneumonias and malnutrition presenting gastroesopheal reflux and microgastria. The child was underwent a double lumen Roux-en-Y jejunal reservoir (Hunt-Lawrence pouch. This treatment improved nutritional status and growth. No others anomalies were detected. Congenital microgastria is a rare anomaly which is usually associated with other malformations. The authors reviewed the literature and recommend the gastric augmentation for the treatment for microgastria.

  4. 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.

  5. Current Concepts - Congenital Scoliosis

    Science.gov (United States)

    Tikoo, Agnivesh; Kothari, Manish K.; Shah, Kunal; Nene, Abhay

    2017-01-01

    Background: Congenital scoliosis is one of the ‘difficult to treat’ scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required. They are cardiac echocardiography and ultrasonography of abdomen and pelvis. CT scan is required to understand the complex deformity and is helpful in surgical planning. Methods: A comprehensive medical literature review was done to understand the current surgical and non surgical treatment options available. An attempt was made to specifically study limitations and advantages of each procedure. Results: The treatment of congenital scoliosis differs with respect to the age of presentation. In adults with curves more than 50 degrees or spinal imbalance the preferred treatment is osteotomy and correction. In children the goals are different and treatment strategy has to be varied according to the age of patient. A single or two level hemivertebra can easily be treated with hemivertebra excision and short segment fusion. However, more than 3 levels or multiple fused ribs and chest wall abnormalities require a guided growth procedure to prevent thoracic insufficiency syndrome. The goal of management in childhood is to allow guided spine growth till the child reaches 10 - 12 years of age, when a definitive fusion can be done. The current research needs to be directed more at the prevention and understanding the etiology of the disease. Till that time, diagnosing the disease early and treating it before the sequels set in, is of paramount importance. Conclusion: The primary aim of treatment of congenital scoliosis is to allow

  6. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract 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

  7. 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.

  8. Congenital imprinting disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new consortium...

  9. Surgery for Congenital Cataract

    Directory of Open Access Journals (Sweden)

    David Yorston FRCS FRCOphth

    2004-01-01

    Full Text Available The management of congenital cataract is very different to the treatment of a routine age-related cataract. In adults, surgery may be delayed for years without affecting the visual outcome. In infants, if the cataract is not removed during the first year of life, the vision will never be fully regained after surgery. In adults, if the aphakia is not corrected immediately, it can be corrected later. In young children, if the aphakia is not corrected, the vision will never develop normally.

  10. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  11. Congenital indifference to pain

    Directory of Open Access Journals (Sweden)

    Kapasi A

    1992-01-01

    Full Text Available A 9-month old female infant developed a non-healing deep necrotic ulcer on the tongue in apposition with the central incisors. There was no response to painful stimuli. Investigations revealed normal blood biochemistry, sweat, histamine and capsaicin tests. Nerve conduction studies and light microscopy of sural nerve and skin were normal. The child was diagnosed as a case of congenital indifference to pain and was treated with teeth extraction and plastic repair of the tongue. In next 2 years the child had recurrent ulcers of the tongue leading to fibrosis and shortening of tongue hampering the speech.

  12. Systemic congenital lymphangiomatosis

    Directory of Open Access Journals (Sweden)

    Ligia Maria Suppo de Souza

    Full Text Available Systemic lymphangiomatosis is a rare disease characterized by the exageration of lymphatic channel proliferation, occurring in children and young adults. We describe an extremely rare case of congenital systemic lymphangiomatosis in a newborn who had ascitis and respiratory failure develop immediately after delivery. Death occurred during the first hour of life. Autopsy findings showed numerous cysts in soft tissues of the cervical area, mediastinum and diaphragm, and several other organs including the liver, spleen, thyroid and kidneys. The severe and diffuse involvement with cysts in both lungs by lymphangiomatosis was associated with poor prognosis and death in our case.

  13. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Stocker, J.T., Madewell, J.E. and Drake, R.M.. Congenital cystic adenomatoid malformation of the lung: classification and morphologic spectrum. Hum. Pathol. 1977; 8:155-171. 6. Benjamin, D.R. and Cahill, J.L. Bronchioloalveolar carcinoma of the lung and congenital cystic adenomatoid malformation.

  14. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... and related health problems. Common Heart Defects Common types of congenital heart defects, which can affect any part of the heart ... circulation. Echocardiograms are the primary tool for diagnosing congenital ... is a specialized type of ultrasound that allows diagnosis of heart problems ...

  15. Congenital Syphilis Masquerading as Leukemia.

    Science.gov (United States)

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-07-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  16. congenital epulis in a newborn

    African Journals Online (AJOL)

    GB

    BACKGROUND: Congenital epulis is a rare lesion of the newborn, presenting as mass in the oral cavity which can interfere with respiration and feeding. It should be distinguished from other lesions which can occur in newborns, both clinically and histopathologically. CASE DETAILS: Here, we report a case of congenital ...

  17. Placental histopathology of congenital syphilis.

    Science.gov (United States)

    Sheffield, Jeanne S; Sánchez, Pablo J; Wendel, George D; Fong, David W I; Margraf, Linda R; Zeray, Fiker; McIntire, Donald D; Barton Rogers, Beverly

    2002-07-01

    To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. Women were clinically staged, and the infants were evaluated for congenital syphilis using a standard protocol. Each placenta was evaluated by two independent pathologists. Histologic characteristics of the placenta related to congenital syphilis in live-born and stillborn infants were then analyzed. Sixty-seven women met the study criteria: 33 (49%) stillborn and 18 (27%) live-born infants with congenital syphilis, 15 (22%) uninfected live-born infants, and one uninfected stillborn fetus diagnosed by current criteria. There were no differences between the groups with regard to demographic characteristics, prenatal care, or stage of syphilis. Stillborn infants were more likely to deliver preterm (P gestational age, histopathology revealed necrotizing funisitis, villous enlargement, and acute villitis associated with congenital syphilis. Erythroblastosis was more common in stillborn infants with congenital syphilis than all live-born infants (odds ratio 16, 95% confidence interval 1, 370). The addition of histologic evaluation to conventional diagnostic evaluations improved the detection rate for congenital syphilis from 67% to 89% in live-born infants, and 91% to 97% in stillborn infants. Our results show that histopathologic examination of the placenta is a valuable adjunct to the contemporary diagnostic criteria used to diagnose congenital syphilis.

  18. 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

  19. Detection of steroid sulfatase gene deletion (STS) in Egyptian males ...

    African Journals Online (AJOL)

    Introduction: Ichthyosis is a disorder of keratinization characterized by diffuse uniform and persistent scales resulting from abnormal epidermal differentiation or metabolism. Ichthyosiform dermatoses are classified into four major types, ichthyosis vulgaris, X-Linked ichthyosis, congenital recessive ichthyosis and lastly ...

  20. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  1. Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.

    Directory of Open Access Journals (Sweden)

    Sohini Chatterjee

    Full Text Available X-linked ichthyosis (XLI is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS. Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all.Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58 and younger (≤18yrs, n = 24 males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data. The survey comprised demographic and background information (including any prior clinical diagnoses and validated questionnaires assaying phenotypes of particular interest (Adult ADHD Self-Report Scale v1.1, Barrett Impulsiveness Scale-11, adult and adolescent Autism Quotient, Kessler Psychological Distress Scales, and Disruptive Behaviour Disorder Rating Scale.Individuals with XLI generally exhibited normal sensory function. Boys with XLI were at increased risk of developmental disorder, whilst adults with the condition were at increased risk of both developmental and mood disorders. Both adult and younger XLI groups scored significantly more highly than male general population norms on measures of inattention, impulsivity, autism-related traits, psychological distress and disruptive behavioural traits.These findings indicate that both adult and younger males with XLI exhibit personality profiles that are distinct from those of males within the general population, and suggest that individuals with XLI may be at heightened risk of psychopathology. The data are consistent with the notion that STS is important in neurodevelopment and ongoing brain function, and with previous work suggesting high rates of

  2. X-linked recessive ichthyosis: an impaired barrier function evokes limited gene responses before and after moisturizing treatments.

    Science.gov (United States)

    Hoppe, T; Winge, M C G; Bradley, M; Nordenskjöld, M; Vahlquist, A; Berne, B; Törmä, H

    2012-09-01

    X-linked recessive ichthyosis (XLRI) is due to deletions or inactivating mutations in the steroid sulfatase (STS) gene. This results in an accumulation of cholesterol sulphate affecting the packing of intercorneocyte lipids. XLRI is characterized by dry, scaly skin and increased skin barrier permeability; patients are often dependent on daily use of moisturizers. To examine the biophysical and molecular changes in the skin of patients with XLRI compared with healthy volunteers, and to analyse the effects of moisturizers on the patients' barrier function. Patients with XLRI (n=14) and healthy controls (n=14) were included in the study. Skin dryness score, transepidermal water loss (TEWL) and skin surface pH were monitored at baseline, and punch biopsies were obtained for mRNA expression profiles determined by oligonucleotide arrays. Measurements were repeated in the patients with XLRI after a 4-week treatment with three different moisturizers on the volar forearms. Patients with XLRI showed, compared with healthy controls, increased dryness and TEWL, equal skin pH and altered expression of 27 genes. There were no signs of activation of inflammation or repair pathways. Five selected genes were significantly altered also on quantitative polymerase chain reaction analysis. Treatment with the moisturizers showed similar effects: they improved skin dryness but had no effect on TEWL, pH or expression of selected genes. Despite a dysfunctional skin barrier, the limited number of genes altered in XLRI skin suggests that no inflammatory or repair mechanisms are triggered. Treatment with moisturizers does not have any major impact on the skin barrier properties of patients with XLRI. © 2012 The Authors. BJD © 2012 British Association of Dermatologists.

  3. Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.

    Science.gov (United States)

    Chatterjee, Sohini; Humby, Trevor; Davies, William

    2016-01-01

    X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all. Using an online survey, advertised worldwide, we collected detailed self- or parent-reported information on behaviour in adult (n = 58) and younger (≤18yrs, n = 24) males with XLI for comparison to data from their non-affected brothers, and age/gender-matched previously-published normative data. The survey comprised demographic and background information (including any prior clinical diagnoses) and validated questionnaires assaying phenotypes of particular interest (Adult ADHD Self-Report Scale v1.1, Barrett Impulsiveness Scale-11, adult and adolescent Autism Quotient, Kessler Psychological Distress Scales, and Disruptive Behaviour Disorder Rating Scale). Individuals with XLI generally exhibited normal sensory function. Boys with XLI were at increased risk of developmental disorder, whilst adults with the condition were at increased risk of both developmental and mood disorders. Both adult and younger XLI groups scored significantly more highly than male general population norms on measures of inattention, impulsivity, autism-related traits, psychological distress and disruptive behavioural traits. These findings indicate that both adult and younger males with XLI exhibit personality profiles that are distinct from those of males within the general population, and suggest that individuals with XLI may be at heightened risk of psychopathology. The data are consistent with the notion that STS is important in neurodevelopment and ongoing brain function, and with previous work suggesting high rates of

  4. Pre-Descemet corneal dystrophy and X-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene.

    Science.gov (United States)

    Hung, Crystal; Ayabe, Reed I; Wang, Cynthia; Frausto, Ricardo F; Aldave, Anthony J

    2013-09-01

    To report the association of X-linked ichthyosis and pre-Descemet corneal dystrophy with a deletion of the steroid sulfatase gene (STS) detected with microarray-based comparative genomic hybridization (aCGH). A slit-lamp biomicroscopic examination and cutaneous examination were performed, after which a saliva sample was collected as a source of genomic DNA. Polymerase chain reaction amplification of each of the 10 exons of STS was performed, as was aCGH on genomic DNA to detect copy number variation. The slit-lamp examination revealed punctate opacities in the posterior corneal stroma of each eye. The cutaneous examination demonstrated scaling and flaking skin of the arms and legs. Polymerase chain reaction amplification using primers designed to amplify each of the 10 exons of STS failed to produce any amplicons. Subsequently, aCGH performed on genomic DNA revealed a microdeletion in the Xp22.31 cytoband of approximately 1.7 megabases, containing STS. The identification of a microdeletion within Xp22.3 containing STS with aCGH in an individual with suspected pre-Descemet corneal dystrophy and X-linked ichthyosis demonstrates the clinical utility of copy number variation analysis in confirming a presumptive clinical diagnosis.

  5. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency-x-linked recessive ichthyosis: a case report and review of literature.

    Science.gov (United States)

    Mishra, Kirtisudha; Batra, Vineeta Vijay; Basu, Srikanta; Rath, Bimbadhar; Saxena, Renu

    2012-05-01

    Nephrotic syndrome associated with X-linked recessive ichthyosis due to steroid sulfatase deficiency has rarely been reported in English literature. We describe a 4 and a half-year-old boy presenting with steroid-resistant nephrotic syndrome (SRNS) with an underlying ichthyotic skin present since birth. Renal biopsy revealed minimal change disease. As many of the male members of the family also showed similar skin manifestations, genetic analysis was done on the patient, which revealed deletion of the steroid sulfatase (STS) gene spanning both the 3' as well as the 5'ends. The patient was thus diagnosed with SRNS associated with X-linked recessive ichthyosis. He was started on cyclosporine regimen, and remission was achieved in 5 weeks. We speculate that the deficiency of STS resulting in increased cholesterol sulfate accumulation interferes with the integrity of adherens junctions present between glomerular epithelial cells of the slit diaphragm, and this results in proteinuria and nephrotic syndrome. The nephrotic syndrome remitted with a calcineurin inhibitor medication. We suggest that the deficiency of STS is another one in an increasing list of genetic causes of podocytopathy and nephrotic syndrome. Remission of proteinuria in such a case may be achieved with immunosuppressive medication.

  6. Construction of a well-defined multifunctional dendrimer for theranostics.

    Science.gov (United States)

    Ornelas, Cátia; Pennell, Ryan; Liebes, Leonard F; Weck, Marcus

    2011-03-04

    A dendrimer-based building block for theranostics was designed. The multifunctional dendrimer is polyamide-based and contains nine azide termini, nine amine termini, and fifty-four terminal acid groups. Orthogonal functionalization of the multifunctional dendrimer with a near-infrared (NIR) cyanine dye afforded the final dendrimer that shows fluorescence in the NIR region and no toxicity toward T98G human cells. The synthetic strategy described here might be promising for fabricating the next generation of materials for theranostics.

  7. A well-defined rhenium(VII) olefin metathesis catalyst

    Energy Technology Data Exchange (ETDEWEB)

    Toreki, R.; Schrock, R.R. (Massachusetts Institute of Technology, Cambridge (USA))

    1990-03-14

    Molybdenum tungsten, and rhenium are the three most active metals in classical olefin metathesis systems. Molybdenum (VI){sup 2} and tungsten(VI){sup 3} alkylidene complexes of the type M-(CHR{prime})(NAr)(OR){sub 2} (Ar = 2,6-C{sub 6}H{sub 3}-i-Pr{sub 2}) have been shown to be well-behaved olefin metathesis catalysts with an activity that can be controlled through the choice of OR. Although several rhenium alkylidene complexes have been reported, none has shown any confirmable metathesis activity, even toward strained cyclic olefins such as norbornene. Since Re{triple bond}CR{double prime} and M{double bond}NR{double prime} (M = Mo or W) can be regarded as isoelectronic units, plausible candidates as olefin metathesis catalysts are complexes of the type Re(CHR{prime})(CR{double prime})(OR){sub 2}. The authors report here that such a complex in which OR = OCMe(CF{sub 3}){sub 2} is a well-behaved olefin metathesis catalyst.

  8. Electron transfer in systems of well-defined geometry

    Energy Technology Data Exchange (ETDEWEB)

    Overfield, R.E.; Kaufmann, K.J.; Wasielewski, M.R.

    1980-01-01

    Two mesopyropheophorbide macrocycles can be joined via two covalent linkages to produce a cyclophane. It is possible to insert one or two Mg atoms into the cyclophane. The Qy transitions of the macrocycles are nearly orthogonal. The visible absorption spectrum of the monometal cyclophane is nearly a superposition of the spectra of the monomers. Emission from the monometal cyclophane arises primarily from the red most absorbing chromophore. The excited state difference spectrum shows that both macrocycles are excited. Fluorescence lifetimes of the monometal cyclophane decrease with increasing dielectric strength. Changes in the fluorescence and the triplet yield parallel the shortening of the singlet lifetime. Thus the radiative rate is solvent independent. This is in contrast to what one would expect if the emitting state had charge transfer character. Since the fluorescence lifetime is dependent on dielectric, the nonradiative relaxation from the singlet state is due to formation of a radical pair. The decay rate of the postulated radical pair was monitored by observing the kinetics of ground state repopulation. For the geometry of this cyclophane, electron transfer proceeds relatively slowly (k = 3 x 10/sup 9/ sec/sup -1/) in the forward direction. Modeling calculations indicate that the rate of annihilation of the radical pair may decrease as the solvent dielectric decreases.

  9. Method of preparing well-defined polypeptides via rop

    KAUST Repository

    Hadjichristidis, Nikolaos

    2015-09-24

    A process for living ring-opening polymerization can include exposing an N- carboxyanhydride monomer to an initiator that includes a first primary amine covalently linked to a first electron donor by a first linking group to form a polyamide polymer. The initiator can include a second primary amine, optionally a second electron donor, and optionally a third electron donor.

  10. Well-Defined Microapertures for Ion Channel Biosensors

    NARCIS (Netherlands)

    Halza, Erik; Bro, Tobias Hedegaard; Bilenberg, Brian; Kocer, Armagan

    2013-01-01

    Gated ion channels are excitable nanopores in biological membranes. They sense and respond to different triggers in nature. The sensory characteristics of these channels can be modified by protein engineering tools and the channels can be functionally reconstituted into synthetic lipid bilayer

  11. [Congenital syphilis: a case report].

    Science.gov (United States)

    Lasfargue, M; Thümmler, S; Perelman, S; de Ricaud, D

    2009-10-01

    Syphilis is a re-emerging infectious disease in Western Europe. Congenital syphilis is a potentially serious pathology affecting newborns of infected mothers. This disease is easily curable by a simple antibiotic treatment. Because of systematic antenatal screening it should no longer exist in industrialized countries. Nevertheless, we report a case of a six-week-old infant with a delayed diagnosis of congenital syphilis. Physicians, especially gynaecologists, obstetricians and paediatricians, have to be vigilant in order to allow for early diagnosis and appropriate treatment of congenital syphilis.

  12. Congenital hypothyroidism: Screening dilemma.

    Science.gov (United States)

    Desai, Meena P

    2012-12-01

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

  13. Congenital hypothyroidism: Screening dilemma

    Directory of Open Access Journals (Sweden)

    Meena P Desai

    2012-01-01

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

  14. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  15. Congenital fibular deficiency.

    Science.gov (United States)

    Hamdy, Reggie C; Makhdom, Asim M; Saran, Neil; Birch, John

    2014-04-01

    Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

  16. [Congenital cervical spondylolisthesis].

    Science.gov (United States)

    Raichel, Michael; Lumelsky, Dmitry; Tanzman, Michael; Shtern, Avinoam; Kaufman, Basil

    2003-12-01

    Cervical spondylolysis with spondylolisthesis is a complex abnormality involving the posterior elements of the cervical vertebra, and anterolisthesis of the same vertebra. Cervical spondylolysis is defined as a corticated cleft between the superior and inferior articular facets of the articular "pillar", the cervical equivalent of the pars intraarticularis in the lumbar spine. The typical radiological features of this condition are as follows: 1. Spondylolysis (a break in the "pillar" on one or both sides) 2. Spina bifida of dysplastic vertebra 3. Affection of posterior intervertebral joints (abnormal inclination of the superior and inferior articular facets of the affected bones may present) Recognition of this congenital disorder and its differentiation from traumatic injury is extremely important in patients who have a history of recent cervical trauma.

  17. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  18. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. The absent and vanishing spleen: congenital asplenia and hyposplenism--two case reports.

    Science.gov (United States)

    Halbertsma, F J J; Neeleman, C; Weemaes, C M; van Deuren, M

    2005-03-01

    Two unrelated patients are reported: one with isolated familial asplenia diagnosed postmortem, the other with isolated hyposplenism diagnosed after recurring invasive bacterial infections. Because both children died of fulminant septic shock, the importance of early diagnosis of splenic dysfunction is evident. Clues for an early diagnosis of congenital asplenia are recurrent invasive bacterial infections, Howell-Jolly bodies in the blood smear or a relative with congenital isolated asplenia. Although the guidelines for infection prevention in asplenism--patient education, antibiotic prophylaxis and vaccination--are well defined, controversy remains as to how to differentiate hyposplenism from functional asplenism. Based on the present observations, we define a patient as functionally asplenic--and therefore at risk for life-threatening infections-when Howell-Jolly bodies are present in the blood smear, a very small spleen is found by ultrasound, or splenic blood flow is compromised.

  20. Use of the frozen section 'jelly-roll' technique to aid in the diagnosis of bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis).

    Science.gov (United States)

    Galler, Blake; Bowen, Casey; Arnold, Jason; Kobayashi, Todd; Dalton, Scott R

    2016-05-01

    Frozen section is a valuable tool that is often underutilized in the setting of in-patient dermatology. Traditionally, frozen section has been used in dermatology to diagnose toxic epidermal necrolysis, with some additional utility in staphylococcal scalded skin syndrome in the new born period. We report a newborn female with ruptured bullae on the face, chest, back and extremities with a clinical differential diagnosis that included staphylococcal scalded skin, bullous congenital ichthyosiform erythroderma/epidermolytic hyperkeratosis and epidermolysis bullosa. A thin detached skin sample ('jelly-roll') taken from a ruptured bulla on the abdomen was prepared for frozen section analysis. Characteristic findings of epidermolytic hyperkeratosis were seen which included hyperkeratosis with granular layer degeneration, vacuolization and eosinophilic globules. The 'jelly-roll' technique can be used for quick diagnosis with minimal trauma to the patient. Epidermolytic hyperkeratosis was subsequently confirmed by a biopsy fixed in formalin and by genetic testing. A novel missense mutation in KRT1 (I479N) was identified. Herein, we discuss the use of the frozen section 'jelly roll' technique for rapid diagnosis in a case of bullous congenital ichthyosis erythroderma/epidermolytic hyperkeratosis. Published 2016. This article is a U.S. Government work and is in the public domain in the USA.

  1. Congenital pseudarthrosis of the clavicle

    Energy Technology Data Exchange (ETDEWEB)

    Currarino, Guido [Texas Scottish Rite Hospital for Children, Department of Radiology, Dallas, TX (United States); Herring, John A. [Texas Scottish Rite Hospital for Children, Department of Orthopedic Surgery, Dallas, TX (United States)

    2009-12-15

    Congenital pseudarthrosis is an uncommon anomaly poorly referred to in the pediatric literature. To describe congenital pseudarthrosis in children. We discuss the presentation, clinical symptomatology, and treatment. We reviewed the records of four children with congenital pseudarthrosis from 1990 to 2009 at the radiology department of Texas Scottish Rite Hospital for Children. Four girls ages 4 through 14 were identified. Three children presented with a bulge in the mid-clavicle as a chief complaint. The fourth child (14 years old) had bluish discoloration of the right upper extremity with venous distention. Three of the four did not have other abnormalities, while the 14-year-old had exostosis on the left hand. The mid-portion of the right clavicle was involved in all four children. Three of the four were treated surgically. Congenital pseudarthrosis of the clavicle is an uncommon anomaly found mostly in girls and in the mid-right clavicle. (orig.)

  2. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

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

  3. Instrumentation and fusion for congenital spine deformities.

    Science.gov (United States)

    Hedequist, Daniel J

    2009-08-01

    A retrospective clinical review. To review the use of modern instrumentation of the spine for congenital spinal deformities. Spinal instrumentation has evolved since the advent of the Harrington rod. There is a paucity of literature, which discusses the use of modern spinal instrumentation in congenital spine deformity cases. This review focuses on modern instrumentation techniques for congenital scoliosis and kyphosis. A systematic review was performed of the literature to discuss spinal implant use for congenital deformities. Spinal instrumentation may be safely and effectively used in cases of congenital spinal deformity. Spinal surgeons taking care of children with congenital spine deformities need to be trained in all aspects of modern spinal instrumentation.

  4. 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.

  5. 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.

  6. Congenital lipoid adrenal hyperplasia

    Science.gov (United States)

    2014-01-01

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

  7. Congenital hypothyroidism in neonates

    Directory of Open Access Journals (Sweden)

    Aneela Anjum

    2014-01-01

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

  8. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  9. Congenital hyperthyroidism: autopsy report

    Directory of Open Access Journals (Sweden)

    Lima Marcus Aurelho de

    1999-01-01

    Full Text Available We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and hemorrhagic suffusions in the epicardium. The placenta had infarctions that involved at least 20% of its surface, and the vessels of the umbilical cord were fully exposed due to a decrease in Wharton 's jelly. Hyperthyroidism was confirmed by the maternal clinical data, the fetal findings of exophthalmia, craniosynostosis, and goiter with signs of follicular hyperactivity. Craniosynostosis is caused by the anabolic action of thyroid hormones in bone formation during the initial stages of development. The delayed initiation of treatment in the present case contributed to the severity of fetal hyperthyroidism and consequent fetal death.

  10. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  11. Congenital parotid fistula.

    Science.gov (United States)

    Natasha, Shiggaon

    2014-01-01

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

  12. Disease: H00740 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00740 Ichthyosis follicularis, alopecia, and photophobia syndrome Ichthyosis foll...icularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genetic disorder characterized by con...genital ichthyosis follicularis and noncicatricial universal alopecia. Photophobia is also present in early ...garbane A ... TITLE ... Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome. ... JOURNAL ... Orphan...fer RA ... TITLE ... Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: clinical and neuropat

  13. Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

    Science.gov (United States)

    Goeteyn, M; Oranje, A P; Vuzevski, V D; de Groot, R; van Suijlekom-Smit, L W

    1991-02-01

    The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. The nails were hyperkeratotic. Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. The most prominent ultrastructural finding was the presence of solitary or multiple droplets of varying size in the cytoplasm of the keratinocytes. Hair analysis revealed no abnormalities; the cystine concentration in hair specimens was normal.

  14. Disease: H00734 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00734 Lamellar ichthyosis (LI) and Non-bullous congenital ichthyosiform erythroder...ma (NBCIE) Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyp...erkeratosis. Two non-syndromic forms are defined including lamellar ichthyosis (LI) and non-bullous congenital...OXE3 [HSA:59344] ICHYN [HSA:348938] CYP4F22 [HSA:126410] [KO:K17731] Bullous congenital ichthyosiform erythr...(description, gene) Akiyama M Harlequin ichthyosis and other autosomal recessive congenital

  15. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

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

  16. Coping with congenital hand differences.

    Science.gov (United States)

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

    2015-04-01

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

  17. Congenital syphilis has not disappeared.

    Science.gov (United States)

    Lane, G K; Oates, R K

    1988-02-15

    Thirty-three cases of congenital syphilis that were seen at The Children's Hospital, Camperdown, over a 34-year period were reviewed. Twenty-nine cases were examples of early congenital syphilis, as the patients developed clinical features in the first two years of life, and the other four cases were examples of late congenital syphilis, with the clinical features developing between two years and nine months of age and 10 years of age. Twenty-five patients were symptomatic at the time of admission to hospital. The most common clinical feature on the patient's presentation to hospital was a maculopapular or vesiculobullous skin eruption which occurred in 13 of the infants. Hepatic and splenic enlargement were present in 12 cases, and nine children had the "snuffles". Five of the children died. Patient follow-up occurred in fewer than 40% of cases and three of the children who were followed-up suffer from developmental delay. Congenital syphilis can occur in all social groups but is most common in infants who are premature or are small for gestational age and are born to young, unmarried mothers of low socioeconomic status. The treatment of congenital syphilis is simple and effective although the patients may need to be linked with community-health facilities to assist in their compliance with follow-up appointments.

  18. Congenital absence of the portal vein associated with congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Gocmen, Rahsan; Akhan, Okan [Hacettepe University Faculty of Medicine, Radiology Department, Ankara (Turkey); Talim, Beril [Hacettepe University Faculty of Medicine, Pathology Department, Ankara (Turkey)

    2007-09-15

    The radiological features of a 7-year-old boy with congenital absence of the portal vein, pathologically proven congenital hepatic fibrosis, double inferior vena cava, ventricular septal defect, vertebral anomalies, crossed fused renal ectopia, and facial anomalies with pathological correlation are reported. This association between congenital absence of the portal vein and congenital hepatic fibrosis is unique. (orig.)

  19. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  20. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Obesity? National Institute of Diabetes and Digestive and Kidney Diseases: Active at Any Size! Educational Resources (6 links) Centers for Disease Control and Prevention: Obesity and Genetics MalaCards: congenital leptin deficiency Orphanet: Obesity due to congenital leptin deficiency ...

  1. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

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

    2007-01-01

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

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

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

  3. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

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

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral

  4. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  5. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Carlson, Steven K; Patel, Akash R; Chang, Philip M

    2017-06-01

    Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. Congenital long QT syndrome

    Directory of Open Access Journals (Sweden)

    Celano Giuseppe

    2008-07-01

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

  7. 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

  8. Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.

    Science.gov (United States)

    Lee, Noo Ri; Yoon, Na Young; Jung, Minyoung; Kim, Ji-Yun; Seo, Seong Jun; Wang, Hye-Young; Lee, Hyeyoung; Sohn, Young Bae; Choi, Eung Ho

    2016-08-01

    X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Skin barrier properties were measured, cytokine expression levels in the stratum corneum (SC) were evaluated with the tape stripped specimen from skin surface, and a genetic test was done on blood. XLI patients showed significantly lower SC hydration, but normal basal trans-epidermal water loss and skin surface pH as compared to a healthy control group. Histopathology of ichthyosis epidermis showed no acanthosis, and levels of the pro-inflammatory cytokines in the corneal layer did not differ between control and lesional/non-lesional skin of XLI patients. Among the mutations in filaggrin (FLG), kallikrein 7 (KLK7), and SPINK5 genes, the prevalence of KLK7 gene mutations was significantly higher in XLI patients (50%) than in controls (0%), whereas FLG and SPINK5 prevalence was comparable. Korean XLI patients exhibited unimpaired skin barrier function and frequent association with the KLK7 gene polymorphism, which may differentiate them from Western XLI patients.

  9. MRI in Congenital Facial Palsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-03-01

    Full Text Available Magnetic resonance (MR findings in a 12-month-old boy with congenital unilateral facial palsy and a 9-month-old girl with atypical Moebius syndrome are reported from the National Center of Neurology and Psychiatry, Kodaira, Japan.

  10. 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.)

  11. Congenital infantile fibrosarcoma mimicking sacrococcygeal ...

    African Journals Online (AJOL)

    The poor predilection of the tumour for distant metastases may contribute to its above average prognosis, but the rarity of systemic antenatal detection of congenital conditions in most parts of Africa may mitigate this good fortune. We report the very rare case of a 9-month-old female infant who presented with a progressively ...

  12. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm the child's long term health or well-being. Description There are many types of pediatric heart surgery . Patent ductus arteriosus (PDA) ...

  13. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University ...

  14. Clinical manifestations of congenital aniridia.

    Science.gov (United States)

    Singh, Bhupesh; Mohamed, Ashik; Chaurasia, Sunita; Ramappa, Muralidhar; Mandal, Anil Kumar; Jalali, Subhadra; Sangwan, Virender S

    2014-01-01

    To study the various clinical manifestations associated with congenital aniridia in an Indian population. In this retrospective, consecutive, observational case series, all patients with the diagnosis of congenital aniridia seen at the institute from January 2005 to December 2010 were reviewed. In all patients, the demographic profile, visual acuity, and associated systemic and ocular manifestations were studied. The study included 262 eyes of 131 patients with congenital aniridia. Median patient age at the time of initial visit was 8 years (range: 1 day to 73 years). Most cases were sporadic and none of the patients had parents afflicted with aniridia. The most common anterior segment abnormality identified was lenticular changes. Cataract was the predominant lens finding, observed in 93 of 231 (40.3%) phakic eyes. Other lens abnormalities were subluxation, coloboma, posterior lenticonus, and microspherophakia. Corneal involvement of varying degrees was seen in 157 of 262 (59.9%) eyes, glaucoma was identified in 95 of 262 (36.3%) eyes, and foveal hypoplasia could be assessed in 230 of 262 (87.7%) eyes. Median age when glaucoma and cataract were noted was 7 and 14 years, respectively. None of the patients had Wilm's tumor. Congenital aniridia was commonly associated with classically described ocular features. However, systemic associations were characteristically absent in this population. Notably, cataract and glaucoma were seen at an early age. This warrants a careful evaluation and periodic follow-up in these patients for timely identification and appropriate management. Copyright 2014, SLACK Incorporated.

  15. CONGENITAL SYPHILIS IN AN IMMUNOCOMPROMISED ...

    African Journals Online (AJOL)

    hi-tech

    East African Medical Journal Vol. 80 No. 12 December 2003. CONGENITAL SYPHILIS IN IMMUNOCOMPROMISED NEONATE: CASE REPORT. A. M. O., Shonubi, MBBS, FMCS, FWACS. Consultant Paediatric Surgeon; Queen Elizabeth II Hospital, Maseru, Kingdom of Lesotho, B. A., Salami, MBBS,. FMCS. Consultant ...

  16. 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.

  17. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. 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

  19. Pathology of congenital generalized lipodystrophy in Agpat2-/- mice.

    Science.gov (United States)

    Vogel, P; Read, R; Hansen, G; Wingert, J; Dacosta, C M; Buhring, L M; Shadoan, M

    2011-05-01

    Congenital generalized lipodystrophy (CGL) comprises a heterogeneous group of rare diseases associated with partial or total loss of adipose tissue. Of these, autosomal recessive Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the absence of metabolically active subcutaneous and visceral adipose tissues. Metabolic abnormalities associated with lipodystrophy include insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. One form of BSCL has been linked to genetic mutations affecting the lipid biosynthetic enzyme 1-acyl-sn-glycerol 3-phosphate O-acyltransferase 2 (AGPAT2), which is highly expressed in adipose tissue. Precisely how AGPAT2 deficiency causes lipodystrophy remains unresolved, but possible mechanisms include impaired lipogenesis (triglyceride synthesis and storage), blocked adipogenesis (differentiation of preadipocytes to adipocytes), or apoptosis/necrosis of adipocytes. Agpat2(-/-) mice share important pathophysiologic features of CGL previously reported in humans. However, the small white adipose tissue (WAT) depots consisting largely of amoeboid adipocytes with microvesiculated basophilic cytoplasm showed that adipogenesis with deficient lipogenesis was present in all usual locations. Although well-defined lobules of brown adipose tissue (BAT) were present, massive necrosis resulted in early ablation of BAT. Although necrotic or apoptotic adipocytes were not detected in WAT of 10-day-old Agpat2(-/-), the absence of adipocytes in aged mice indicates that these cells must undergo necrosis/apoptosis at some point. Another significant finding in aged lipodystrophic mice was massive pancreatic islet hypertrophy in the face of chronic hyperglycemia, which suggests that glucotoxicity is insufficient by itself to cause β-cell loss and that adipocyte-derived factors help regulate total β-cell mass.

  20. Congenital chloride diarrhea: late presentation

    Directory of Open Access Journals (Sweden)

    Al Bishi L

    2011-04-01

    Full Text Available Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to control the electrolyte imbalance. The disease was difficult to control for a year after diagnosis. Late presentation is associated with severe chronic electrolyte disturbances and high-dose replacement therapy.Keywords: congenital chloride diarrhea, hypokalemic hypochloremic metabolic alkalosis, high stool chloride

  1. Pulmonary abscesses in congenital syphilis.

    Science.gov (United States)

    Bell, Carrie; Taxy, Jerome

    2002-04-01

    Congenital syphilis remains a public health concern in the United States. Infants whose mothers are treated in the third trimester without adequate prenatal care have an increased risk of morbidity and mortality in the immediate perinatal period. The identification of Treponema pallidum in tissue is definitive confirmation of infection. We report the case of a 32-week gestational age infant born to a mother treated for syphilis 7 days prior to delivery. The infant died 12.5 hours after birth. At autopsy, there was extensive acute hyaline membrane disease. In addition, there were bilateral pulmonary abscesses with spirochetes. The onset of maternal disease was unknown, but was probably early in or prior to the pregnancy. This is an unusual case of pulmonary involvement in congenital syphilis.

  2. Congenital chloride diarrhea: late presentation

    OpenAIRE

    Al Bishi, Laila; Mustafa,

    2011-01-01

    Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to...

  3. Congenital neuroblastoma with placental involvement

    OpenAIRE

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks’ gestation developed hydrops fetalis by 26 weeks’ gestation. The mother developed hypertension at 26 5/7 weeks’ gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a soli...

  4. Congenital unilateral hydrocephalus - CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Schulman, H.; Landau, D.; Schulman, P.; Hertzanu, Y

    2000-12-01

    Congenital unilateral hydrocephalus is extremely uncommon with 18 cases previously reported in the English literature. Two additional newborns with unilateral hydrocephalus are presented. The second baby also presented a mega cisterna magna. This unusual association between Dandy-Walker variant and unilateral hydrocephalus has not been previously reported. Following ventriculo-peritoneal shunt, the babies had a normal cognitive neurodevelopment. The role of cranial computed tomography (CT) in diagnosis and follow-up is emphasized.

  5. Congenital deficiency of factor VII.

    Science.gov (United States)

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

    1996-01-01

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

  6. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  7. 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.

  8. [Congenital syphilis: incidence among newborns

    Science.gov (United States)

    Araújo, E C; Moura, E F; Ramos, F L; Holanda, V G

    1999-01-01

    OBJECTIVE: To determine the incidence of congenital syphilis among newborns at the maternity of a public hospital. METHODS: The study was conducted at the maternity of Fundação Santa Casa de Misericórdia do Pará, from May to September 1996; 361 mothers were interviewed, and physical examination was performed in their newborns. Serum samples from both, mothers and neonates, were tested using three methods: VDRL, FTA - Abs, ELISA IgM. The diagnosis of congenital syphilis was established according to the criteria defined by Ministério da Saúde in 1993. RESULTS: The rate of congenital syphilis was of 9.1% (33); in 14 cases, there were one or more signs of the disease: prematurity, hepatomegaly, stillbirth, splenomegaly, perinatal death, abdominal distention, nasal stuffiness, jaundice, newborn small for gestational age. The majority of the infected mothers belonged to the age group of 20-35 years (81.8%); 60.6% were married; 63.6% received prenatal care; 48.5% reported previous spontaneous abortion, and 12.1% previous stillbirth. The rate of bisexuality among fathers was of 9.1%. CONCLUSION: The syphilis control measures and the prenatal care, have not been sufficient to prevent the high rate of the disease.

  9. Association of congenital neuroblastoma and congenital heart disease. Is there a common embryologic basis

    Energy Technology Data Exchange (ETDEWEB)

    Bellah, R.; D' Andrea, A.; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma.

  10. Genetic Syndromes associated with Congenital Heart Disease

    OpenAIRE

    Ko, Jung Min

    2015-01-01

    Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy a...

  11. 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.)

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

    Science.gov (United States)

    Matar, Hosam E; Garg, Neeraj K

    2016-03-01

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

  13. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  14. Hyperuricaemia in congenital heart disease patients.

    Science.gov (United States)

    Martínez-Quintana, Efrén; Rodríguez-González, Fayna

    2015-01-01

    Hyperuricaemia is associated with traditional cardiovascular risk factors such as type 2 diabetes or dyslipidaemia and a higher mortality. Out of 528 congenital heart disease patients, 329 patients, including 190 male and 139 female patients, in whom uric acid determination was performed, were studied and followed up to determine survival. Male congenital heart disease patients with high serum uric acid concentrations (>7 mg/dl) showed significantly (p congenital heart disease patients with lower serum uric acid levels (≤7 mg/dl). Meanwhile, female congenital heart disease patients with higher serum uric acid concentrations (>5.7 mg/dl) were significantly (p congenital heart disease patients with lower serum uric acid concentrations (≤5.7 mg/dl). During a median follow-up of 90 months, 16 out of 528 congenital heart disease patients died - 14 patients of cardiac origin and two patients of non-cardiac origin - of whom 10 were hypoxaemic. Kaplan-Meier analysis showed no significant differences in mortality between male and female congenital heart disease patients with high and low serum uric acid level concentrations. Hypoxaemia, body mass index, and C-reactive protein concentrations are higher in hyperuricaemic congenital heart disease patients, although no significant differences were seen in mortality between congenital heart disease patients with high and low serum uric acid concentrations.

  15. History of the Congenital Heart Surgeons' Society.

    Science.gov (United States)

    Mavroudis, Constantine; Williams, William G

    2015-10-01

    The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.

  16. The Danish Register of Congenital Heart Disease.

    Science.gov (United States)

    Olsen, Morten; Videbæk, Jørgen; Johnsen, Søren Paaske

    2011-07-01

    Congenital heart defects (CHD) constitute the largest group of congenital defects with a prevalence at birth of 5-11 per 1000 live births, and the population of adults with CHD is increasing. However, few population-based long-term outcome data exist. The Danish Register of Congenital Heart Disease holds data on patients diagnosed with CHD since 1963 and patients below 25 years of age with other types of heart disease. Overall and defect specific validation is ongoing. Together with other Danish registers, the Danish Register of Congenital Heart Disease provides extensive research possibilities.

  17. [X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].

    Science.gov (United States)

    Carrascosa-Romero, M Carmen; Suela, Javier; Alfaro-Ponce, Blanca; Cepillo-Boluda, Antonio J

    2012-02-16

    X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close to the pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders. The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possible contribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed following treatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved in the formation and repair of the neuronal membrane.

  18. Analysis of the STS gene in 40 patients with recessive X-linked ichthyosis: a high frequency of partial deletions in a Spanish population.

    Science.gov (United States)

    Cañueto, J; Ciria, S; Hernández-Martín, A; Unamuno, P; González-Sarmiento, R

    2010-10-01

    Recessive X-linked ichthyosis (RXLI) (OMIM 308100) is a genodermatosis characterized by polygonal, dark, adherent and mild-to-moderate scales that normally improve during summer. RXLI is caused by a deficiency in steroid sulphatase (STS), whose gene has been located on the X chromosome (locus Xp22.3). Up to 90% of the mutations described in this gene are complete deletions. Previous reports of partial deletion of STS gene in cases of RXLI prompted us to determine the incidence of these abnormalities in a Spanish population. We have studied exons 1, 5 and 10 of the STS gene by polymerase chain reaction in 40 patients with clinical features of RXLI. Our results revealed that 30 patients presented complete deletions (75%) while 10 patients had partial deletions (25%) a rate higher than that reported in the previous studies. Amplification of exons 1, 5 and 10 is reliable in screening RXLI in the population studied here. No correlation was found between phenotype and the extent of the deletions.

  19. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.

    Science.gov (United States)

    Xu, H; Li, Z; Wang, T; Wang, S; Liu, J; Wang, D W

    2015-12-01

    Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The patients had low serum testosterone, follicle-stimulating hormone and luteinising hormone levels and a blunt response to the gonadotrophin-releasing hormone stimulation test. After human chorionic gonadotrophin treatment, the serum testosterone levels were normalized, and the pubic hair, penis length and testicular volumes were greatly improved in both of the patients. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Our study broadens the mutation spectrum in the KAL1 gene associated with KS and facilitates the genetic diagnosis and counselling for KS. © 2015 Blackwell Verlag GmbH.

  20. A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Directory of Open Access Journals (Sweden)

    Celia Zazo Seco

    2017-02-01

    Full Text Available A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p.Glu2*, in FITM2 was identified. FITM2 and its paralog FITM1 constitute an evolutionary conserved protein family involved in partitioning of triglycerides into cellular lipid droplets. Despite the role of FITM2 in neutral lipid storage and metabolism, no indications for lipodystrophy were observed in the affected individuals. In order to obtain independent evidence for the involvement of FITM2 in the human pathology, downregulation of the single Fitm ortholog, CG10671, in Drosophila melanogaster was pursued using RNA interference. Characteristics of the syndrome, including progressive locomotor impairment, hearing loss and disturbed sensory functions, were recapitulated in Drosophila, which supports the causative nature of the FITM2 mutation. Mutation-based genetic counseling can now be provided to the family and insight is obtained into the potential impact of genetic variation in FITM2.

  1. Keratitis-Ichthyosis-Deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43

    Science.gov (United States)

    García, Isaac E.; Maripillán, Jaime; Jara, Oscar; Ceriani, Ricardo; Palacios-Muñoz, Angelina; Ramachandran, Jayalakshimi; Olivero, Pablo; Pérez-Acle, Tomás; González, Carlos; Sáez, Juan C.; Contreras, Jorge E.; Martínez, Agustín D.

    2015-01-01

    Mutations in Cx26 gene are found in most cases of human genetic deafness. Some mutations produce syndromic deafness associated with skin disorders, like Keratitis Ichthyosis Deafness syndrome (KID). Because in the human skin Cx26 is co-expressed with other connexins, like Cx43 and Cx30, and since KID syndrome is inherited as autosomal dominant condition, it is possible that KID mutations change the way Cx26 interacts with other co-expressed connexins. Indeed, some Cx26 syndromic mutations showed gap junction dominant negative effect when co-expressed with wild type connexins, including Cx26 and Cx43. The nature of these interactions and the consequences on hemichannels and gap junction channels functions remain unknown. In this study we demonstrate that syndromic mutations at the N-terminus segment of Cx26, change connexin oligomerization compatibility, allowing aberrant interactions with Cx43. Strikingly, heteromeric oligomer formed by Cx43/Cx26 (syndromic mutants) show exacerbated hemichannel activity, but nonfunctional gap junction channels; this also occurs for those Cx26 KID mutants that do not show functional homomeric hemichannels. Heterologous expression of these hyperactive heteromeric hemichannels increases cell membrane permeability, favoring ATP release and Ca2+ overload. The functional paradox produced by oligomerization of Cx43 and Cx26 KID mutants could underlie the severe syndromic phenotype in human skin. PMID:25625422

  2. Missed opportunities for preventing congenital syphilis infection in New York City.

    Science.gov (United States)

    Patel, Sameer J; Klinger, Ellen J; OʼToole, Dana; Schillinger, Julia A

    2012-10-01

    To describe health care providers' missed opportunities for preventing and treating congenital syphilis in New York City. Review of congenital syphilis cases reported to the New York City Department of Health and Mental Hygiene from January 1, 2000 to December 31, 2009. Receipt and timing of prenatal care, serologic testing, and treatment of mothers and newborns were reviewed. Missed opportunities were defined as receipt of prenatal care plus one of the following: 1) lack of documented treatment for syphilis infection diagnosed before pregnancy; 2) absence of serologic testing during pregnancy; 3) late maternal treatment; 4) maternal treatment with a nonpenicillin regimen; or 5) lack of maternal treatment. In total, 195 newborns with congenital syphilis were born to 190 mothers with 191 pregnancies. Overall, 80% (95% confidence interval [CI] 74-86%, 152 of 190) of all mothers received prenatal care; 63% (95% CI 56-71%, 96 of 152) of these had one or more missed opportunities for prevention. Twelve mothers received inadequate treatment or no treatment during the case pregnancy for documented syphilis infection before pregnancy, and 42 mothers without previous syphilis diagnosis did not have serologic testing during the case pregnancy. Of 103 mothers with syphilis diagnosed before 30 weeks of gestation, 12 received late penicillin therapy, 27 received no therapy, and 3 received inappropriate (nonpenicillin) therapy. Seventeen percent (95% CI 12-22%, 33 of 193) of liveborn newborns received no treatment during their hospitalization. Providers missed well-defined opportunities to prevent congenital syphilis for the majority of cases. Combined efforts to prevent future cases include provider education and better integration of care between obstetricians and pediatricians. III.

  3. 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. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

  4. X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.

    Science.gov (United States)

    Bai, Jinli; Qu, Yujin; Cao, Yanyan; Li, Yan; Zhang, Wenhui; Jin, Yuwei; Wang, Hong; Song, Fang

    2016-02-01

    X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37. A male patient was referred to the Department of Medical Genetics with of severe icterus and ichthyosis. The patient and his family members underwent genetic tests related to XLI and CN-I. Quantitative polymerase chain reaction on genomic DNA was performed to determine the gene copy number, while single nucleotide polymorphism array analysis was conducted to identify deletion mutations. Family pedigree analysis showed that the patient and his two cousins were all affected by ichthyosis, which was in accordance with the inheritance pattern of an X-linked recessive disease. In addition, the patient's serum bilirubin concentration (>340 mmol/l) was markedly greater than the normal level. The patient presented with kernicterus and phenobarbital treatment was ineffective. The clinical diagnosis of XLI was confirmed molecularly by laboratory evidence of a maternal 1.61 M deletion (including the STS gene) on ChrXp22.31. Coincidentally, the male patient was also confirmed to carry a rare maternal inherited microdeletion (374 Kb) comprising the entire UGT1A1 gene combined with a paternal UGT1A1 mutation (c.1253delT), a causative event of CN-I. To the best of our knowledge, this study reported for the first time the comorbidity of XLI and CN-I in a male patient. The results suggested that co-occurrence of these two recessive diseases in a patient may be incidental.

  5. Laboratory Diagnosis of Congenital Toxoplasmosis

    Science.gov (United States)

    Pomares, Christelle

    2016-01-01

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

  6. Congenital Defects in Neutrophil Dynamics

    Directory of Open Access Journals (Sweden)

    Marton Keszei

    2014-01-01

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

  7. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  8. Congenital Malaria Among Newborns Admitted for Suspected ...

    African Journals Online (AJOL)

    None of the clinical feature had good sensitivity, specificity or predictive value for congenital malaria, and only 1.6% death was recorded in a baby with high parasite density. Conclusion: Congenital malaria is common in newborns with suspected neonatal sepsis. History of peripartum pyrexia, prematurity and intrauterine ...

  9. Operative management of congenital talipes equinovarus deformity ...

    African Journals Online (AJOL)

    Background: Congenital talipes equinovarus is the most common congenital anomaly of the foot and ankle. The prevalence of this condition in our environment is not known due to dearth of medical literature on the subject. The aim of this study was to determine the outcome of our operative management of resistant talipes ...

  10. Surgery in adults with congenital heart disease

    NARCIS (Netherlands)

    Zomer, A. C.; Verheugt, C. L.; Vaartjes, I.; Uiterwaal, C. S. P. M.; Langemeijer, M. M.; Koolbergen, D. R.; Hazekamp, M. G.; van Melle, J. P.; Konings, T. C.; Bellersen, L.; Grobbee, D. E.; Mulder, B. J. M.

    2011-01-01

    A significant proportion of patients with congenital heart disease require surgery in adulthood. We aimed to give an overview of the prevalence, distribution, and outcome of cardiovascular surgery for congenital heart disease. We specifically questioned whether the effects of surgical treatment on

  11. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

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

    2009-01-01

    The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring.......The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring....

  12. Echocardiography Findings in Clinically Confirmed Congenital ...

    African Journals Online (AJOL)

    Background: Congenital rubella syndrome (CRS) is known to affect thousands of children in the developing world because rubella vaccination is not available routinely in most of these countries. Among its many manifestations only congenital heart disease is life threatening. This study was undertaken to ascertain the ...

  13. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

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

    2011-01-01

    Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

  14. Cardiac Biomarkers in Adult Congenital Heart Disease

    NARCIS (Netherlands)

    J.A. Eindhoven (Jannet)

    2015-01-01

    markdownabstract__Abstract__ Congenital heart disease (ConHD) is the most common congenital abnormality in newborns, with a birth prevalence of 9 per 1000 live births.2 ConHD comprises a number of cardiac abnormalities with varying aetiology which can be divided into simple, moderate and

  15. Nutritional treatment of congenital heart disease.

    OpenAIRE

    Bougle, D; Iselin, M; Kahyat, A; Duhamel, J F

    1986-01-01

    Twelve of 13 patients with congenital heart disease given continuous enteral nutrition displayed normal growth; cardiac function remained stable or improved in 10 in spite of the water load (146 +/- 22 ml/kg/day). This is safe treatment for malnutrition in congenital heart disease.

  16. Congenital heart defects in Kabuki syndrome.

    Science.gov (United States)

    Yuan, Shi-Min

    2013-01-01

    Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenital heart defects in the patients with KS were summarized. Congenital heart defects were one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. Left-sided obstructions/aortic dilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and 32.9%, respectively. The most common congenital heart defects were coarctation of the aorta, and atrial and ventricular septal defects. Fifteen (19.7%) patients received surgical repair of congenital heart defects at a mean age of 0.8 ± 1.3 years. Congenital heart defects are one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. About 20% of the patients warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.

  17. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  18. Congenital malformations among newborns in Kenya | Muga ...

    African Journals Online (AJOL)

    Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...

  19. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality

  20. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  1. Primary congenital hypothyroidism complicated by persistent severe ...

    African Journals Online (AJOL)

    2013-12-24

    Dec 24, 2013 ... Case Study: Primary congenital hypothyroidism complicated by persistent severe anaemia in early infancy. 85. 2014 Volume 19 No 2. JEMDSA. Introduction. Although anaemia is a common finding in adults with hypothyroidism, there is a general paucity of studies on anaemia in infants with congenital ...

  2. Genetics Home Reference: congenital nephrotic syndrome

    Science.gov (United States)

    ... condition may be environmental, including infections such as congenital syphilis or toxoplasmosis, or it may be caused by mutations in unidentified genes. Learn more about the genes associated with congenital nephrotic syndrome LAMB2 NPHS1 NPHS2 PLCE1 WT1 Related ...

  3. Congenital hypothyroidism presenting as menorrhagia in adulthood.

    Science.gov (United States)

    Kumar, Sadish; Mahesh, D M; Vignesh, G; Sagili, Haritha; Dhanapathi, H; Hamide, Abdoul

    2013-09-01

    Although hypothyroidism is a common cause of menorrhagia, it is an uncommon presentation of congenital hypothyroidism. We report a case of congenital hypothyroidism presenting in adulthood with severe menorrhagia. Despite the late presentation, she had features to suggest hypothyroidism since birth.

  4. An unusual presentation of congenital bronchoesophageal fistula ...

    African Journals Online (AJOL)

    An unusual presentation of congenital bronchoesophageal fistula. OM Atalabi, AG Falade, OM Obajimi, OO Akinyinka, SB Lagundoye, PO Ibinaiye. Abstract. We present the case of a 5-week-old neonate with multiple congenital abnormalities including a broncho-oesophageal fistula, which showed radiological features ...

  5. Polyhydramnios Associated with Multiple Congenital Malformations ...

    African Journals Online (AJOL)

    A case of polyhydramnios associated with multiple congenital abnormalities in the fetus of a 25 year old primigravida, at 33 weeks gestation is reported. She presented with complaint of excessive abdominal distension and ultrasound scan revealed severe polyhydramnios (AFI 46.1cm) with multiple congenital ...

  6. Cyanotic congenital heart disease and atherosclerosis

    DEFF Research Database (Denmark)

    Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

    2017-01-01

    Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

  7. Le glaucome congenital au Centre National Hospitalouniversitaire ...

    African Journals Online (AJOL)

    ... was found in 19.6% of cases. For the management, it was surgical. Conclusion: Genetic counseling to future husband, the early diagnosis and treatment are essential to reduce the frequency of congenital glaucoma. Keywords: Congenital glaucoma, megalocornea, high intra-ocular pressure, buphthalmos, trabeculectomy ...

  8. Multiple congenital defects in a newborn foal

    Directory of Open Access Journals (Sweden)

    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  9. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....

  10. Epidemiology of congenital diaphragmatic hernia in Europe

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  11. Acute cervical fracture or congenital spinal deformity?

    Science.gov (United States)

    Harrop, James S; Jeyamohan, Shiveindra; Sharan, Ashwini; Ratliff, John; Flanders, Adam; Maltenfort, Mitchell; Falowski, Stephen; Vaccaro, Alexander

    2008-01-01

    There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional treatment may ensue. A retrospective analysis was performed to identify patients with congenital cervical spine deformities. These patients were matched with a confirmed traumatic spinal fracture population with similar demographic features. Patients were analyzed for age, gender, imaging findings (plain roentgenograms including dynamic flexion and extension views, computed tomography scan, and MRI), neurologic status, and subjective complaints of pain. Thirty-six individuals were included in the final analysis, 7 with congenital abnormalities and 29 with radiographically confirmed traumatic injuries. Patients with congenital abnormalities had significantly less soft-tissue swelling compared with the population with traumatic fractures (P spinal deformity (congenital vs traumatic).

  12. Acute Cervical Fracture or Congenital Spinal Deformity

    Science.gov (United States)

    Harrop, James S; Jeyamohan, Shiveindra; Sharan, Ashwini; Ratliff, John; Flanders, Adam; Maltenfort, Mitchell; Falowski, Stephen; Vaccaro, Alexander

    2008-01-01

    Background/Objective: There are few reports of developmental or congenital cervical spinal deformities. Such cases may be mistaken for traumatically induced fractures, and additional treatment may ensue. Methods: A retrospective analysis was performed to identify patients with congenital cervical spine deformities. These patients were matched with a confirmed traumatic spinal fracture population with similar demographic features. Patients were analyzed for age, gender, imaging findings (plain roentgenograms including dynamic flexion and extension views, computed tomography scan, and MRI), neurologic status, and subjective complaints of pain. Results: Thirty-six individuals were included in the final analysis, 7 with congenital abnormalities and 29 with radiographically confirmed traumatic injuries. Patients with congenital abnormalities had significantly less soft-tissue swelling compared with the population with traumatic fractures (P spinal deformity (congenital vs traumatic). PMID:18533417

  13. Health in adults with congenital heart disease.

    Science.gov (United States)

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

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  14. [Congenital buried penis in children].

    Science.gov (United States)

    Lardellier-Reynaud, F; Varlet, F; François, M; Mouriquand, P

    2011-10-01

    Congenital buried penis in children is an uncommon and poorly known entity. The aims of this study were to report an original technique for correction of buried penis and to evaluate its results. It is a retrospective study of buried penis operated between November 1998 and May 2009. The acquired concealed penis and hypospadias were excluded from this study. The procedure includes several stages: degloving of the penis through a ventral anchor-like incision; division of the adherent layers surrounding the corpora cavernosa; anchorage of the Buck's fascia to the corporeal albuginea at the base of the penis; and ventral cutaneous coverage. The long-term results were evaluated by the parents and the surgeon according to anatomical, functional and aesthetic criterion. Twenty-five boys were evaluated. The mean age at surgery was 27 months (seven days-120 months). Two children required an additional plasty. Results were satisfactory in 24 cases (96%). One child required a redo procedure for unsatisfactory outcome. Of seven children with redundant skin (28%), three underwent a complementary cutaneous excision. Congenital buried penis remains a controversial issue. Our technique was simple and easily reproducible. Voiding difficulties, urinary tract infection or strong parental request were the main indications of this surgery in our experience. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  15. [Congenital malformations in teenage pregnancy].

    Science.gov (United States)

    Sirakov, M

    2012-01-01

    This review brings clear evidence of a link between the young maternal age and the higher incidence of complications recorded, both during pregnancy and during labor. It was found that pregnancy in very young age was associated with increased risk of fetal abnormalities affecting the central nervous system, gastrointestinal and muscles-skeletal system. The anomalies of the central nervous system were most commonly found. They were not severe. A higher incidence of birth of babies with neural tube defects or congenital heart diseases was registered. The reasons for the observed anomalies in early pregnancy remain unclear. There is insufficient information about the link between congenital anomalies and use of tobacco or alcohol use by very young mothers. Some correlations were registered between risk factors such as body mass index before pregnancy, the folic acid and other multivitamin needs before and during pregnancy, as well as social factors such as lack of support, isolation from peers and/or family, financial pressures, social attitudes, etc.

  16. Evaluation of prenatal diagnosis of congenital heart disease in a regional controlled case study.

    Science.gov (United States)

    Rossier, Marie-Claude; Mivelaz, Yvan; Addor, Marie-Claude; Sekarski, Nicole; Meijboom, Erik Jan; Vial, Yvan

    2014-01-01

    This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland). All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively. This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.

  17. 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

  18. Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis

    Directory of Open Access Journals (Sweden)

    Qiaoli Li

    2011-11-01

    Zebrafish (Danio rerio can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5–6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM of wild-type zebrafish at day 5 reveals a two-cell-layer epidermis separated from the underlying collagenous stroma by a basement membrane with fully developed hemidesmosomes. Scanning electron microscopy (SEM reveals an ordered surface contour of keratinocytes with discrete microridges. To gain insight into epidermal morphogenesis, we have employed morpholino-mediated knockdown of the abca12 and snap29 genes, which are crucial for secretion of lipids and intracellular trafficking of lamellar granules, respectively. Morpholinos, when placed on exon-intron junctions, were >90% effective in preventing the corresponding gene expression when injected into one- to four-cell-stage embryos. By day 3, TEM of abca12 morphants showed accumulation of lipid-containing electron-dense lamellar granules, whereas snap29 morphants showed the presence of apparently empty vesicles in the epidermis. Evaluation of epidermal morphogenesis by SEM revealed similar perturbations in both cases in the microridge architecture and the development of spicule-like protrusions on the surface of keratinocytes. These morphological findings are akin to epidermal changes in harlequin ichthyosis and CEDNIK syndrome, autosomal recessive keratinization disorders due to mutations in the ABCA12 and SNAP29 genes, respectively. The results indicate that interference of independent pathways involving lipid transport in the epidermis can result in phenotypically similar perturbations in epidermal morphogenesis, and that these fish mutants can serve as a model to study the pathomechanisms of these keratinization disorders.

  19. X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

    Science.gov (United States)

    Kent, L; Emerton, J; Bhadravathi, V; Weisblatt, E; Pasco, G; Willatt, L R; McMahon, R; Yates, J R W

    2008-08-01

    X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused by deletions or point mutations of the steroid sulfatase (STS) gene on chromosome Xp22.32. Deletions of this region can be associated with cognitive behavioural difficulties including autism. Animal work suggests the STS gene may be involved in attentional processes. We have therefore undertaken a systematic study of autism and attention deficit hyperactivity disorder (ADHD) in boys with XLI. Cases of XLI were recruited from families originally ascertained when pregnancies with STS deficiency were identified through a routine maternal screening programme. Boys with XLI were assessed for ADHD and autism using standardised questionnaires and interviews. Deletions of the STS gene were identified and characterised by analysis of genomic DNA and/or fluorescent in situ hybridisation. 25 boys with XLI were assessed for autism and ADHD. 40% fulfilled DSM-IV criteria for a diagnosis of ADHD, 80% of which were inattentive subtype. ADHD diagnoses were present in those with both deletions and presumed point mutations of STS. Additionally, five boys, from three unrelated families, fulfilled criteria for an autistic spectrum disorder or related language/communication difficulty, and all had an unusually large deletion of the STS gene with loss of the neuroligin 4 (NLGN4) gene. None of the boys with the typical deletion or presumed point mutations of STS demonstrated autistic difficulties. STS deficiency may be a risk factor for ADHD with predominantly inattentive symptoms. Boys with XLI and large deletions encompassing STS and NLGN4 are at increased risk of developing autism and related disorders.

  20. Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis.

    Science.gov (United States)

    Van Esch, Hilde; Hollanders, Karen; Badisco, Liesbeth; Melotte, Cindy; Van Hummelen, Paul; Vermeesch, Joris Robert; Devriendt, Koen; Fryns, Jean-Pierre; Marynen, Peter; Froyen, Guy

    2005-07-01

    X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at Xp22.31 due to non-allelic homologous recombination between the CRI-S232 low-copy repeat regions flanking the STS gene. The clinical features of these patients may include mental retardation (MR) and the VCX-A gene has been proposed as the candidate MR gene. Analysis of DNA from four XLI patients with MR by array-comparative genomic hybridization (array-CGH) on a 150 kb resolution X chromosome-specific array revealed a 1.5 Mb interstitial microdeletion with breakpoints in the CRI-S232 repeat sequences, each of which harbors a VCX gene. We demonstrate that the recombination sites in all four cases are situated in the 1 kb repeat unit 2 region present at the 3' ends of the VCX-A and VCX-B genes thereby deleting VCX-A and VCX-B1 but not VCX-B and VCX-C. Array-CGH with DNA of an XLI patient with MR and an inherited t(X;Y)(p22.31;q11.2) showed an Xpter deletion of 8.0 Mb resulting in the deletion of all four VCX genes and duplication of both VCY homologs. These data confirm the role of VCX-A in the occurrence of MR in XLI patients. Moreover, we propose a VCX/Y teamwork-dependent mechanism for the incidence of mental impairment in XLI patients.

  1. Requirement of Fatty Acid Transport Protein 4 for Development, Maturation, and Function of Sebaceous Glands in a Mouse Model of Ichthyosis Prematurity Syndrome*

    Science.gov (United States)

    Lin, Meei-Hua; Hsu, Fong-Fu; Miner, Jeffrey H.

    2013-01-01

    Fatty acid transport protein 4 (FATP4) is one of a family of six transmembrane proteins that facilitate long- and very long-chain fatty acid uptake. FATP4 is expressed in several tissues, including skin. Mutations in human SLC27A4, which encodes FATP4, cause ichthyosis prematurity syndrome, characterized by a thick desquamating epidermis and premature birth. Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements. Both the skin phenotype and the lethality are rescued by transgene expression of FATP4 in suprabasal keratinocytes. Sebaceous glands in Fatp4 null skin grafted onto nude mice were found to be dystrophic and enwrapped by thick layers of epithelial cells. Consistent with these results, transgene-rescued Fatp4 null mice showed a subnormal level of FATP4 expression in sebocytes and exhibited abnormal development of both sebaceous glands and meibomian glands, specialized sebaceous glands of the eyelids. Sebum from these mice contained a reduced level of type II diester wax, a major mouse sebum lipid species, and showed perturbations in mass spectrometric profiles of diester wax and cholesteryl ester species. In addition, these mice showed an impaired ability to repel water and regulate body temperature after water immersion. Taken together, our results suggest that FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum, likely by regulating the trafficking of fatty acids necessary for proper synthesis of sebum lipids. PMID:23271751

  2. Requirement of fatty acid transport protein 4 for development, maturation, and function of sebaceous glands in a mouse model of ichthyosis prematurity syndrome.

    Science.gov (United States)

    Lin, Meei-Hua; Hsu, Fong-Fu; Miner, Jeffrey H

    2013-02-08

    Fatty acid transport protein 4 (FATP4) is one of a family of six transmembrane proteins that facilitate long- and very long-chain fatty acid uptake. FATP4 is expressed in several tissues, including skin. Mutations in human SLC27A4, which encodes FATP4, cause ichthyosis prematurity syndrome, characterized by a thick desquamating epidermis and premature birth. Mice lacking FATP4, which genetically model the human disease, are born with tight, thick skin and a defective skin barrier; they die neonatally due to dehydration and restricted movements. Both the skin phenotype and the lethality are rescued by transgene expression of FATP4 in suprabasal keratinocytes. Sebaceous glands in Fatp4 null skin grafted onto nude mice were found to be dystrophic and enwrapped by thick layers of epithelial cells. Consistent with these results, transgene-rescued Fatp4 null mice showed a subnormal level of FATP4 expression in sebocytes and exhibited abnormal development of both sebaceous glands and meibomian glands, specialized sebaceous glands of the eyelids. Sebum from these mice contained a reduced level of type II diester wax, a major mouse sebum lipid species, and showed perturbations in mass spectrometric profiles of diester wax and cholesteryl ester species. In addition, these mice showed an impaired ability to repel water and regulate body temperature after water immersion. Taken together, our results suggest that FATP4 plays crucial roles in the development and maturation of both sebaceous and meibomian glands, as well as in the formation and composition of sebum, likely by regulating the trafficking of fatty acids necessary for proper synthesis of sebum lipids.

  3. Sleep in infants with congenital heart disease.

    Science.gov (United States)

    Ykeda, Daisy Satomi; Lorenzi-Filho, Geraldo; Lopes, Antonio A B; Alves, Rosana S C

    2009-01-01

    To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 +/-1 months, and in 7 normal infants, age 10 +/-2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 +/-7, 59 +/-11 and 94 +/-16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (pcongenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.

  4. Adult congenital heart disease: a growing epidemic.

    Science.gov (United States)

    Ávila, Pablo; Mercier, Lise-Andrée; Dore, Annie; Marcotte, François; Mongeon, François-Pierre; Ibrahim, Reda; Asgar, Anita; Miro, Joaquim; Andelfinger, Gregor; Mondésert, Blandine; de Guise, Pierre; Poirier, Nancy; Khairy, Paul

    2014-12-01

    Medical and surgical breakthroughs in the care of children born with heart defects have generated a growing population of adult survivors and spawned a new subspecialty of cardiology: adult congenital heart disease. The prevalence of adult congenital heart disease is escalating at a rampant rate, outpacing the relatively static prevalence of pediatric congenital heart disease, because adults now surpass children in numbers by a ratio of 2:1. As such, congenital heart disease can no longer be considered primarily a pediatric specialty. Most congenital heart defects are not curable and require lifelong specialized care. Health care systems worldwide are challenged to meet the unique needs of this increasingly complex patient population, including the development of supraregional centres of excellence to provide comprehensive and multidisciplinary specialized care. In this review, we explore the incidence and prevalence of congenital heart disease and their changing patterns, address organization and delivery of care, highlight the importance of appropriate training and dedicated research, summarize the high burden of health care resource utilization, and provide an overview of common issues encountered in adults with congenital heart disease. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  5. Tibiofibular torsion in congenital clubfoot.

    Science.gov (United States)

    Farsetti, Pasquale; Dragoni, Massimiliano; Ippolito, Ernesto

    2012-01-01

    Tibiofibular torsion was measured by computed tomography in three series of patients affected by congenital clubfoot who were treated with different protocols. The normal leg of unilateral deformities served as the control. For the bilateral cases, only the right side was included in the study. The angle between the bicondylar axis of the tibia and the bimalleolar axis was the index of tibiofibular torsion. There were 34 clubfeet in the first series, treated with a posteromedial release, and 40 clubfeet in the second series, treated with a modified Ponseti method, whereas the third series included 16 clubfeet, treated with the original Ponseti method. All 90 clubfeet were graded at birth as group 3 according to the Manes classification. No patient had previous treatment. The patients of the first and the second series were followed up to maturity, whereas the patients of the third series were followed up to a maximum of 11 years of age. In the congenital clubfoot, the tibia and the fibula were externally rotated, in comparison with the normal leg; in fact, the average value of the angle of tibiofibular torsion was 32.2° in the first series, 23.9° in the second series, and 21.1° in the third series. In the normal tibiae, the average value of the angle of tibiofibular torsion was 21.4°. The difference between the first series and the normal controls was statistically significant, as was the difference between the first one and the other two series. The value of the tibiofibular torsion angle seems to be related to the manipulation technique used to treat clubfoot: when the manipulation does not allow a progressive eversion of the talus underneath the calcaneus, the external tibial torsion increases. At follow-up, an intoeing gait was present in seven treated clubfeet of the first series. In all of them except one, the highest value of the external tibial torsion angle was observed, with a low value of the Kite's angle and/or residual forefoot adduction. In the

  6. Imaging findings in congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Ferreira, Rafael Martins; Amaral, Lazaro L F; Gonçalves, Marcus V M; Lin, Katia

    2011-12-01

    In 2002, the term congenital cranial dysinnervation disorders (CCDDs) was proposed to group heterogeneous syndromes with congenital abnormalities of ocular muscle and facial innervations. The concept of neurogenic etiology has been supported by discovery of genes that are essential to the normal development of brainstem, cranial nerves, and their axonal connections. The CCDDs include Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, horizontal gaze palsy with progressive scoliosis, the human homeobox-related disorders, pontine cap tegmental dysplasia, and an expanding list. The purpose of this review was to update the imaging features, as well as clinical and genetic information, regarding cases of CCDDs.

  7. [Sex differences in congenital heart disease].

    Science.gov (United States)

    Aubry, P; Demian, H

    2016-12-01

    Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  8. Congenital infantile fibrosarcoma of the lip.

    Science.gov (United States)

    Bellfield, Edward J; Beets-Shay, Linda

    2014-01-01

    Infantile congenital fibrosarcomas are rare neoplasms that usually present on the extremities, and although they are locally invasive, they rarely metastasize. They are commonly misdiagnosed as hemangiomas or other vascular tumors, so further evaluation by pathology is required for proper diagnosis. We describe a newborn with a neoplastic growth of the lower lip that was thought to be an infantile hemangioma that did not respond to therapy. When the child was 2 months old, an incisional biopsy demonstrated a fibrosarcoma. This case highlights congenital infantile fibrosarcoma as a mimic of infantile hemangioma. To our knowledge this is first case report of congenital infantile fibrosarcoma involving the lip. © 2013 Wiley Periodicals, Inc.

  9. Congenital sideroblastic anemia of a Saudi child.

    Science.gov (United States)

    ALBagshi, Muneer H; Saloma, Somaya H; Albagshi, Hassan M

    2017-01-01

    Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. It is important to recognize this entity early in life as a significant percentage of cases respond to pyridoxine thus avoiding any long-term complications.

  10. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

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

  11. Congenital heart defects in children with oral clefts

    OpenAIRE

    Nahvi H.; Mollaeian M; Kazemian F; Hoseinpoor M; Keiani A; Khatami F; Khorgami Z; Goodarzi M; Ebrahim Soltani A; ahmadi J.

    2007-01-01

      Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referre...

  12. Congenital multiple arthrogryposis in bovine

    Directory of Open Access Journals (Sweden)

    D.P. Vrisman

    Full Text Available ABSTRACT This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder, thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.

  13. Prenatal diagnosis of congenital dacryocystocele.

    Science.gov (United States)

    Bachelard-Serra, Mathilde; Chau, Cécile; Farinetti, Anne; Roman, Stéphane; Triglia, Jean-Michel; Nicollas, Richard

    2013-05-01

    Congenital bilateral dacryocystocele was diagnosed prenatally by ultrasonography in 3 female fetuses at 32.5 weeks gestation. After birth, first baby developed respiratory distress and was treated with endoscopic marsupialization of the cysts; the second baby had no respiratory symptoms and had spontaneous resolution of the cysts without surgery. The last one was expected to have a left dacryocystocele in US but the clinical examination after birth showed a bilateral lesion, with predominance on the right side and underwent an endoscopic marsupialization for nasal obstruction. Prenatal diagnosis with ultrasonography facilitated the education of the mothers and staff and helped minimize the risk of potential complications. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

  14. Congenital dyschromatopsia and school achievement.

    Science.gov (United States)

    Grassivaro Gallo, P; Panza, M; Viviani, F; Lantieri, P B

    1998-04-01

    In 1993-94, in Liguria (a northwestern Italian region) a study was carried out on dyschromatopsia, a congenital sex-linked form of colour blindness. 3124 junior high school boys aged 10-15 years were tested using Ishihara plates (1973 edition) and Farnsworth's D-15 test (1947 edition). 152 students were identified as colour blind (4.87%), a value slightly below the Italian average of 5.3%. The school achievement of these students was assessed by means of the school marks of two randomised subsamples composed of 82 dyschromates and 82 orthochromates, paired homogeneously by age and class. Statistical analysis indicated significantly lower general school achievement for the 82 dyschromate subjects (except for art). The learning difficulties of dyschromate persons for whom colour is a basic didactic tool are discussed. Introduction of dyschromatopsia tests at preschool would be desirable.

  15. Clinicobacteriological correlates of congenital dacryocystitis

    Directory of Open Access Journals (Sweden)

    Bareja Umesh

    1990-01-01

    Full Text Available One hundred and fourteen eyes with congenital dacryocystitis have been studied clinically and bacteriologically. Gram positive cocci constituted the major bacterial isolates (57.9% with streptococcus pneumoniae predominating (28.9%. The most effective antibiotic was cloxacillin with an overall efficacy of 77%. Normal conjunctival flora was sterile in majority (75% of cases. Positive cases showed preponderance of gram positive cocci (21.6% with staphylococcus albus (13.3% being the major isolate. Normal nasal flora revealed diphtheroids (alone or in combination to be the commonest bacteria (62.1%. A statistically significant correlation was not observed between the normal conjunctival or nasal flora and flora from the affected eyes.

  16. 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.)

  17. Congenital ptosis: a good cosmetic result with redefinition and suturing of the orbital septum.

    Science.gov (United States)

    McElvanney, A M; Adhikary, H P

    1996-01-01

    A surgical technique employing orbital septum sutures during ptosis surgery in children is described. A retrospective study of 16 children (age range 6 months to 14 years) undergoing surgery for congenital ptosis over a 6 year period was undertaken with regard to cosmetic outcome. All surgery was performed by one consultant ophthalmic surgeon with the patient under general anaesthesia. A standard levator resection was undertaken, following which the orbital septum was redefined and sutured with interrupted 5-0 catgut. This resulted in a well-defined lid crease post-operatively, with a good cosmetic outcome. The only significant post-operative complication was the occurrence of a suture-related granuloma in one patient. All achieved a good cosmetic result. A mild residual ptosis occurred in 3 cases, requiring a further procedure. Special attention to suturing of orbital septum as a separate tissue layer during levator resection for congenital ptosis gives good lid crease definition which may enhance the overall cosmetic outcome.

  18. Radiological findings of congenital megacolon

    Energy Technology Data Exchange (ETDEWEB)

    Yeon, Kyung Mo; Chung, Sung Hoon; Park, Jae Hyung [College of Medicine, Seoul National University, Seoul (Korea, Republic of)

    1980-12-15

    Congenital megacolon, known as Hirschsprung's disease, is potentially lethal cogenital anomaly due to dangerous complications if diagnosis and treatment are delayed. Early diagnosis is important because immediate successful surgical control reduces mortality and morbidity of this infantile disease and barium enema study is the most important diagnostic tool. Authors analyzed clinical and radiological findings of 41 cases of confirmed congenital megacolon during December 1978 to July 1980 at Seoul National University Hospital. Majority of the cases are male and below one year old. Majority of the cases represent abdominal distension, chronic constipation relieved by enema, no passage of meconium within 24hrs, after birth, vomitting, defication difficulty and emaciation. Cases of showing exudative enteropathy complaints diarrhea, dehydration and melena. In simple abdomen film, 25 cases show moderate degree of abdominal distention and 10 cases show markedly distended abdomen. Most frequent segmental pattern is type C (26.8%) and type B is the next (24.4%), and type A occupy 14.6%. There are one case of jejunal aganglionosis and two cases of total colonic aganglionosis. Most frequent shape of transition zone is type II (34%), and type VI is the next (24%) and type IV occupy 17%. In 82% of the cases show hypertrophy of bowel wall of dilated segment, and 85% of above cases show findings of exudative enteropathy. In 73% of the cases show exudative enteropathy. Almost of cases showing markedly distended abdomen, also have moderate to marked degree of hypertrophy of bowel wall and findings of exudative enteropathy. Three cases were taken 24hrs. delay film, show retention of the main bulk of barium.

  19. Congenital diaphragmatic hernia in identical twins

    Directory of Open Access Journals (Sweden)

    Mustafa T Gurbaz

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia (CDH, Bochdalek type is rarely seen in both members of identical twins. Herein, we report a 37 weeks′ twins with CDH along with a brief review of the literature. Both the neonates survived.

  20. Submacular hemorrhage secondary to congenital toxoplasmosis.

    Science.gov (United States)

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

    2014-01-01

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