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Sample records for recessive congenital ichthyosis

  1. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia

    DEFF Research Database (Denmark)

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

    2016-01-01

    Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic...... 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......-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...

  2. Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.

    Science.gov (United States)

    Martín-Santiago, A; Rodríguez-Pascual, M; Knöpfel, N; Hernández-Martín, Á

    2015-11-01

    Few studies have investigated ear involvement in nonsyndromic autosomal recessive congenital ichthyosis (ARCI). To assess the type and frequency of otologic manifestations of ARCI in patients under follow-up at the pediatric dermatology department of our hospital. We prospectively studied the presence of ear pain, ear itching, tinnitus, otitis, cerumen impaction, accumulation of epithelial debris, and hearing loss. Daily hygiene measures, topical treatments, medical-surgical interventions, and frequency of visits to an ear, nose, and throat (ENT) specialist were noted in the patients' medical records. Ear examination and hearing tests were performed in all cases. Ten patients were studied: 2 had a self-healing collodion baby phenotype and 8 had ichthyosis. There was mention of otologic manifestations in the records of all 8 patients with ichthyosis (100%); 6 of these patients (75%) had abnormalities in the external auditory canal examination and 2 (25%) had conductive hearing loss. Our findings are limited by the small number of patients studied, all of whom were younger than 19 years. The involvement of both dermatologists and ENT specialists in the management of patients with ichthyosis is crucial to ensure the application of the best therapeutic and preventive measures. More studies are needed to assess the prevalence and impact on quality of life of ear involvement in patients with ichthyosis and to determine the optimal interval between ENT visits for these patients. Copyright © 2015 Elsevier España, S.L.U. and AEDV. All rights reserved.

  3. Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

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    Shivanand C Bubanale

    2018-01-01

    Full Text Available Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous marriage, presented with 4 days' history of redness, discharge, and swelling in the right eye. There was severe right upper eyelid ectropion, conjunctival injection, chemosis, a subconjunctival mass on the temporal bulbar conjunctiva spontaneously draining pus and corneal haze. The anterior chamber, iris, lens and fundus appeared normal. Congenital lamellar ichthyosis was suspected because of scaling and excessive dryness of the entire body. The occurrence of a spontaneous subconjunctival abscess is not known in lamellar ichthyosis. We thus report the management of a rare case of unilateral upper eyelid ectropion, subconjunctival abscess with orbital cellulitis in congenital lamellar ichthyosis.

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

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    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.

  5. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

    NARCIS (Netherlands)

    Avrahami, L.; Maas, S.; Pasmanik-Chor, M.; Rainshtein, L.; Magal, N.; Smitt, J. H. S.; van Marle, J.; Shohat, M.; Basel-Vanagaite, L.

    2008-01-01

    Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease

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

    DEFF Research Database (Denmark)

    Hotz, A; Fagerberg, C; Vahlquist, A

    2018-01-01

    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...

  7. A Novel Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

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    D. Vaigundan

    2014-01-01

    Full Text Available Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1 observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.

  8. Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby

    NARCIS (Netherlands)

    Noguera-Morel, L.; Feito-Rodriguez, M.; Maldonado-Cid, P.; Garcia-Minaur, S.; Kamsteeg, E.J.; Gonzalez-Sarmiento, R.; Lucas-Laguna, R. De; Hernandez-Martin, A.; Torrelo, A.

    2016-01-01

    Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype

  9. Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India

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    Arghyaprasun Ghosh

    2017-01-01

    Full Text Available Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Aims and Objectives: The aim is to evaluate the epidemiology and clinical characteristics of various types of congenital ichthyoses. Materials and Methods: The study was conducted for 1 year from April 2013 to March 2014. Patients were evaluated for epidemiological profile and clinical features. Results: During the study of 1 year, 106 patients of congenital ichthyoses were identified. The most common of the various ichthyoses was ichthyosis vulgaris, followed by lamellar ichthyosis, X-linked recessive ichthyosis. One case of Netherton syndrome and one of ichthyosis hystrix were also identified. Conclusion: Various types of congenital ichthyoses present with different clinical features which range from mild to severe. These present with significant psychological stress to both patients and their families. Furthermore, all these diseases have significant implications of transmission to their offspring.

  10. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.

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    Bochner, Ron; Samuelov, Liat; Sarig, Ofer; Li, Qiaoli; Adase, Christopher A; Isakov, Ofer; Malchin, Natalia; Vodo, Dan; Shayevitch, Ronna; Peled, Alon; Yu, Benjamin D; Fainberg, Gilad; Warshauer, Emily; Adir, Noam; Erez, Noam; Gat, Andrea; Gottlieb, Yehonatan; Rogers, Tova; Pavlovsky, Mor; Goldberg, Ilan; Shomron, Noam; Sandilands, Aileen; Campbell, Linda E; MacCallum, Stephanie; McLean, W H Irwin; Ast, Gil; Gallo, Richard L; Uitto, Jouni; Sprecher, Eli

    2017-02-01

    Congenital erythroderma is a rare and often life-threatening condition, which has been shown to result from mutations in several genes encoding important components of the epidermal differentiation program. Using whole exome sequencing, we identified in a child with congenital exfoliative erythroderma, hypotrichosis, severe nail dystrophy and failure to thrive, two heterozygous mutations in ABCA12 (c.2956C>T, p.R986W; c.5778+2T>C, p. G1900Mfs*16), a gene known to be associated with two forms of ichthyosis, autosomal recessive congenital ichthyosis, and harlequin ichthyosis. Because the patient displayed an atypical phenotype, including severe hair and nail manifestations, we scrutinized the exome sequencing data for additional potentially deleterious genetic variations in genes of relevance to the cornification process. Two mutations were identified in CAPN12, encoding a member of the calpain proteases: a paternal missense mutation (c.1511C>A; p.P504Q) and a maternal deletion due to activation of a cryptic splice site in exon 9 of the gene (c.1090_1129del; p.Val364Lysfs*11). The calpain 12 protein was found to be expressed in both the epidermis and hair follicle of normal skin, but its expression was dramatically reduced in the patient's skin. The downregulation of capn12 expression in zebrafish was associated with abnormal epidermal morphogenesis. Small interfering RNA knockdown of CAPN12 in three-dimensional human skin models was associated with acanthosis, disorganized epidermal architecture, and downregulation of several differentiation markers, including filaggrin. Accordingly, filaggrin expression was almost absent in the patient skin. Using ex vivo live imaging, small interfering RNA knockdown of calpain 12 in skin from K14-H2B GFP mice led to significant hair follicle catagen transformation compared with controls. In summary, our results indicate that calpain 12 plays an essential role during epidermal ontogenesis and normal hair follicle cycling and that

  11. Congenital lamellar ichthyosis, a case report.

    OpenAIRE

    Joaquín Saavedra D.; María José Sierralta S.; Cristian Saavedra D; Vanesa Rivera C; Francisco Cerda C.

    2014-01-01

    ABSTRACT INTRODUCTION: Lamellar Ichthyosis is a rare skin diseases belonging to the Group of the so-called genodermatoses. It is a form of congenital ichthyosis evident at birth. CASE REPORT: Male neonate, born at 36 weeks of gestation via cesarian section, appropriate for gestational age and Apgar Score 8. Nonconsanguineous parents. Affected brother with Ichthyosis lamellar. Is hospitalized in the Neonatal Intermediary Care Unit of the Hospital of San Fernando due to ...

  12. Quality of life in Swedish children with congenital ichthyosis

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    Agneta Gånemo

    2010-05-01

    Full Text Available Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their family. Fifteen children aged 5-16 years with lamellar ichthyosis, Netherton’s syndrome, epidermolytic hyperkeratosis or Harlequin ichthyosis, were investigated concerning the effect of their ichthyosis on their quality of life. This was measured with the established Children’s Dermatology Life Quality Index (CDLQI, and the Dermatitis Family Impact questionnaire (DFI modified by substituting the word ichthyosis for eczema. The questionnaires covered the preceding seven days and each had a maximum score of 30: the higher the score, the greater the Quality of Life impairment. The median score was 9.0 (range 2-19 for the CDLQI and 9.0 (range 3-21 for DFI. There was a significant correlation between the DFI and the CDLQI scores. The item in the CDLQI questionnaire that showed the highest score was “itchy, scratchy, sore or painful skin” and the most highly scored item in the DFI questionnaire was effect on “housework, e.g. washing, cleaning”; both items related to the children’s symptoms. The results of the study clearly establish that congenital ichthyosis impairs the quality of life of the affected children and their families.

  13. Threshold levels of 25-hydroxyvitamin D and parathyroid hormone for impaired bone health in children with congenital ichthyosis and type IV and V skin.

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    Sethuraman, G; Sreenivas, V; Yenamandra, V K; Gupta, N; Sharma, V K; Marwaha, R K; Bhari, N; Irshad, M; Kabra, M; Thulkar, S

    2015-01-01

    Patients with congenital ichthyosis, especially those with darker skin types, are at increased risk of developing vitamin D deficiency and rickets. The relationships between 25-hydroxyvitamin D [25(OH)D], parathyroid hormone (PTH) and bone health have not been studied previously, in ichthyosis. To determine the threshold levels of 25(OH)D and PTH for impaired bone health in children with congenital ichthyosis. In this cross-sectional study, 119 children with ichthyosis and 168 controls were recruited. Serum 25(OH)D, PTH, calcium, phosphate and alkaline phosphatase (ALP) were measured. Radiological screening for rickets was carried out only in children with ichthyosis. Forty-seven children with ichthyosis had either clinical or radiological evidence of rickets. The correlation between serum 25(OH)D and PTH showed that a serum level of 25(OH)D 8 ng mL(-1) was associated with a significant increase in PTH. The correlation between PTH and ALP showed that a serum PTH level of 75 pg mL(-1) was associated with a significant increase in ALP levels. Of the different clinical phenotypes of ichthyosis, both autosomal recessive congenital ichthyosis (ARCI) and epidermolytic ichthyosis (EI) were found to have significantly increased PTH, ALP and radiological rickets scores compared with common ichthyosis. Serum levels of 25(OH)D ≤ 8 ng mL(-1) and PTH ≥ 75 pg mL(-1) significantly increases the risk for development of rickets [odds ratio (OR) 2·8; 95% confidence interval (CI) 1·05-7·40; P = 0·04] in ichthyosis. Among the different types, patients with ARCI (OR 4·83; 95% CI 1·74-13·45; P < 0·01) and EI (OR 5·71; 95% CI 1·74-18·79; P < 0·01) are at an increased risk of developing rickets. © 2014 British Association of Dermatologists.

  14. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects.

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    Rodríguez-Pazos, L; Ginarte, M; Fachal, L; Toribio, J; Carracedo, A; Vega, A

    2011-10-01

      Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analysed the spectrum of these mutations in specific populations. We have studied the characteristics of patients with ARCI in Galicia (NW Spain). Methods  We recruited patients by contacting all dermatology departments of Galicia and the Spanish patient organization for ichthyosis. TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 were analysed in the patients and their relatives. We identified 23 patients with ARCI and estimated a prevalence of 1 : 122 000. Twenty of the patients were studied. Seventeen of them were clinically categorized as having lamellar ichthyosis (LI) and three as having congenital ichthyosiform erythroderma (CIE). TGM1 and ALOXE3 mutations were identified in 12/16 (75%) probands whereas no ALOX12B, NIPAL4 and CYP4F22 mutations were found. TGM1 mutations were found in 11/13 (85%) of LI probands. ALOXE3 mutations were identified in a single patient with CIE. Remarkably, mutations p.Arg760X, p.Asp408ValfsX21 and c.984+1G>A of TGM1 were present in six, four and two families, accounting for 41%, 23% and 14% of all TGM1 mutant alleles, respectively. The high percentage of patients with the same TGM1 mutations, together with the high number of homozygous probands (64%), indicates the existence of a strong founder effect in our population. © 2011 The Authors. BJD © 2011 British Association of Dermatologists 2011.

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

    DEFF Research Database (Denmark)

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

    1995-01-01

    increased in controls compared to ichthyosis patients, when evaluated by TEWL. When evaluated by erythema index a statistically significant increase in redness was found in controls, but not in ichthyosis patients. Electrical capacitance, reflecting skin hydration, was significantly reduced in RXLI patients......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 skin...... properties and skin response to SLS were studied by measurement of transepidermal water loss (TEWL), electrical capacitance and erythema index. No statistically significant difference in basal TEWL was found between the two groups. The skin response to SLS was found to be statistically significantly...

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

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    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

  17. Whole-exome sequencing for diagnosis of hereditary ichthyosis.

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    Sitek, J C; Kulseth, M A; Rypdal, K B; Skodje, T; Sheng, Y; Retterstøl, L

    2018-02-14

    Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic workup of inherited ichthyosis. During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation. Clinical and molecular data have been collected retrospectively. Genetic variants causative for the ichthyosis were identified in 27 of 34 investigated patients (79.4%). In all, 31 causative mutations across 13 genes were disclosed, including 12 novel variants. TGM1 was the most frequently mutated gene, accounting for 43.7% of patients suffering from autosomal recessive congenital ichthyosis (ARCI). Whole-exome sequencing appears an effective tool in disclosing the molecular cause of patients with hereditary ichthyosis seen in clinical practice and should be considered a first-tier genetic test in these patients. © 2018 European Academy of Dermatology and Venereology.

  18. 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 skin...

  19. 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...... scaling, palmar hyperlinearity with keratoderma, and a frequent appearance of red cheeks and anhidrosis. Thus, we propose replacing SHCB with the term "self-improving collodion ichthyosis" (SICI). In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations...

  20. 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...... scaling, palmar hyperlinearity with keratoderma, and a frequent appearance of red cheeks and anhidrosis. Thus, we propose replacing SHCB with the term "self-improving collodion ichthyosis" (SICI). In conclusion, ALOX12B mutations are the leading cause of SICI in Scandinavia, followed by ALOXE3 mutations...

  1. Oral manifestations of lamellar ichthyosis: A rare case report

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    Keerthi K Nair

    2016-01-01

    Full Text Available The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. Autosomal recessive congenital ichthyosis (ARCI is a heterogeneous group of disorders that present at birth with the generalized involvement of skin without other systemic manifestations. Lamellar itchthyosis (LI is a nonsyndromic itchthyosis, which comes under the umbrella of ARCI. Little is only known about the oral manifestations of this disorder. We report a case of LI with oral manifestations.

  2. 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...... in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period....

  3. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

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    Shanker, Vinay; Gupta, Mudita; Prashar, Aditi

    2012-01-01

    Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss. PMID:23130264

  4. Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder

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    Vinay Shanker

    2012-01-01

    Full Text Available Keratitis-Icthyosis-Deafness syndrome is a rare congenital disorder characterized by keratitis, ichthyosis, and deafness. We report a 13 year old female child who presented with diffuse alopecia of the scalp and body. There was erythrokeratoderma of face and discrete hyperkeratotic hyperpigmented papulo plaque lesions on the body. Patient also had reticulate hyperkeratosis of palms and soles. There was history of recurrent episodes of folliculitis over the scalp and body. There was no evidence of any malignancy. Eye involvement in the form of bilateral vascularising keratitis was present. There was bilateral mixed hearing loss.

  5. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

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    Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Hisham S; Verma, Ishwar C; Puri, Ratna D; Alaiya, Ayodele A; Rizzo, William B; Alkuraya, Fowzan S

    2011-12-09

    Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity-a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  6. Testis cancer. Ichthyosis constitutes a significant risk factor

    DEFF Research Database (Denmark)

    Lykkesfeldt, G; Bennett, P; Lykkesfeldt, A E

    1991-01-01

    Testis cancer and ichthyosis are both relatively rare diseases. Hence the finding of six individuals with both these conditions in a small population with testicular cancer is highly conspicuous and indicates some kind of connection among such persons. Despite the identical clinical appearances...... of their ichthyoses, three of the ichthyotic subjects had no measurable activity of the enzyme, steroid sulfatase (STS) in leucocytes, a distinct characteristic of recessive X-linked ichthyosis (RXLI). However, the remaining three subjects had normal STS activity, a strong indicator of autosomal dominant ichthyosis...... (ADI). The STS activity in patients with testicular cancer who do not have ichthyosis (N = 30) was also within the normal range. The patients with testicular cancer with no skin disease had elevated serum levels of 4-androstenedione (4-AD), follicle stimulating hormone (FSH), and luteinizing hormone...

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

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    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.

  8. LAMELLAR ICHTHYOSIS (COLLODION BABY

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    Paramarta IGE

    2012-11-01

    Full Text Available The ichthyosis are a heterogeneous group of hereditary and acquired disorder of keratinization which affected the epidermis characterized by presence of visible scales on the skin surface in the absence of inflammation. It can occur as a disease limited to the skin or in association with abnormalities of other organ systems. Lamelar ihthyosis (LI is one of two mayor autosomal recessive ichthyosis with an incidence of approximately one in 300,000. The diagnosis is based on clinical and pathologic finding. Infection is the most common complication, while prognosis of LI is depends on severity and complication of the disease. A case of lamellar ichthyosis in 0 day Balinese female baby was reported. The skin of the body was thick, plate-like appearance, scaling on the entire body, some of the thick skin was ruptured on chest and extremities. There were eclabium on the mouth and ectropion on the eyes. Histopathology examination showed hyperkeratosis without perivascular infiltration lymphocyte. The baby was given breast feeding, antibiotic, hydrocortisone cream and olium olivarum. The prognosis of the baby is good.

  9. 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.

  10. Ny klassifikation og molekylærgenetisk viden om arvelig iktyose

    DEFF Research Database (Denmark)

    Andersen, Rikke Elkjær; Hertz, Jens Michael; Bygum, Anette

    2014-01-01

    A new classification of inherited ichthyoses is presented based on clinical features, genetic background and pathophysiology. Ichthyoses are disorders of cornification and may be part of syndromes. Ichthyosis vulgaris, X-linked ichthyosis, autosomal recessive congenital ichthyosis and syndrome...

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

    Science.gov (United States)

    ... collapse boxes. Description Autosomal recessive congenital stationary night blindness is a disorder of the retina , which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing ...

  12. Harlequin Ichthyosis – A Case Report

    LENUS (Irish Health Repository)

    Ugezu, C H

    2017-07-01

    Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.

  13. Generalized morphea in a child with harlequin ichthyosis: a rare association.

    Science.gov (United States)

    Giacomin, Maria F A; França, Camila M P; Oliveira, Zilda N P; Machado, Maria C R; Sallum, Adriana M E; Silva, Clovis A

    2016-01-01

    Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  14. 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

  15. 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

  16. [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

    Science.gov (United States)

    Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

    2012-01-01

    Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

  17. Acquired Ichthyosis Triggered by an Osseous Hemangiopericytoma: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Aikaterini Patsatsi

    2014-01-01

    Full Text Available Ichthyoses are a heterogeneous group of cutaneous keratinization disorders that can be congenital or acquired. Apart from neoplastic disorders, the acquired form of ichthyosis (AI has been associated with a variety of diseases including infections, autoimmune/inflammatory and endocrine/metabolic diseases as well as nutritional conditions, medications and others. However, malignancy accounts for half of the reported cases, most commonly including lymphoproliferative disorders. We present a case of AI as a paraneoplastic skin manifestation of a primary, osseous hemangiopericytoma (HP accompanied by multiple liver metastases. We also review the literature and discuss the necessity of investigating underlying diseases, especially malignancy, when adult-onset ichthyosis arises.

  18. Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait.

    Science.gov (United States)

    Vite, C H; Melniczek, J; Patterson, D; Giger, U

    1999-01-01

    Myotonia is a clinical sign characterized by a delay in skeletal muscle relaxation following electrical or mechanical stimulation. A series of related miniature schnauzer dogs with congenital myotonic myopathy were studied. A composite pedigree of six affected litters and the results of a planned breeding between two affected animals are consistent with an autosomal recessive mode of inheritance.

  19. 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.

  20. Ichthyosis uteri with leiomyoma.

    Science.gov (United States)

    Kanno, Kiyoshi; Kusakabe, Takashi; Takata, Megumi; Suzuki, Kazuo; Oowada, Makoto; Suzuki, Hiroshi

    2016-11-01

    A 58-year-old, postmenopausal, multiparous woman presented with a chief complaint of abnormal vaginal bleeding. Endometrial cytology was evaluated twice, revealing only squamous epithelial cells both times. Degenerated leiomyoma or uterine sarcoma was suspected from imaging findings, and total abdominal hysterectomy and bilateral salpingo-oophorectomy were therefore performed. However, histopathological examination revealed no signs of malignancy, and the patient was diagnosed as having ichthyosis uteri with uterine leiomyoma. No koilocytosis was evident, and immunostaining for p16 was also negative. Ichthyosis uteri is an extremely rare disease of unknown origin in which squamous metaplasia of the endometrium occurs across a wide area. Although regarded as a benign condition, cases have been reported in which the underlying condition was squamous cell carcinoma or endometrial adenocarcinoma. If ichthyosis uteri is present, a comprehensive approach is required, and the possibility of uterine malignancy should be considered. However, there may be no direct association between the malignant lesions and ichthyosis uteri. © 2016 Japan Society of Obstetrics and Gynecology.

  1. Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

    OpenAIRE

    Mitra Souvik; Samanta Moumita; Sarkar Mihir; Chatterjee Sukanta

    2010-01-01

    Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination ...

  2. Ichthyosis vulgaris and pycnodysostosis: An unusual occurrence

    Directory of Open Access Journals (Sweden)

    Vinayak Y. Kshirsagar

    2012-11-01

    Full Text Available Pycnodysostosis is a rare autosomal recessive disorder whose generesponsible for this phenotype (CTSK, mapped to human chromosome1q21, code for the enzyme cathepsin K, a lysosomal cysteineprotease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.

  3. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.

    Science.gov (United States)

    Mitra, Souvik; Samanta, Moumita; Sarkar, Mihir; Chatterjee, Sukanta

    2010-01-01

    Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan's anomaly, which was confirmed by transmission electron microscopy. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis while skin biopsy showed ichthyosis vulgaris. Dorfman-Chanarin syndrome was diagnosed on the basis of clinical and laboratory criteria with certain unreported manifestations. Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis.

  4. Dorfman-Chanarin syndrome: A rare neutral lipid storage disease

    Directory of Open Access Journals (Sweden)

    Mitra Souvik

    2010-10-01

    Full Text Available Dorfman-Chanarin syndrome is a rare neutral lipid storage disorder characterized by ichthyosis, lipid vacuolations in peripheral leucocytes, and multisystem involvement. It is an autosomal recessive disorder caused by mutations in the CGI-58 gene. A total of 42 cases have been reported worldwide till February 2009 out of which 4 have been previously reported from India. We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan′s anomaly, which was confirmed by transmission electron microscopy. Liver biopsy revealed micronodular cirrhosis with macrovesicular steatosis while skin biopsy showed ichthyosis vulgaris. Dorfman-Chanarin syndrome was diagnosed on the basis of clinical and laboratory criteria with certain unreported manifestations. Dietary modifications were instituted and followed up after 1 year with promising results. This emphasizes the importance of neonatal screening for lipid vacuolations in peripheral blood in all cases of congenital ichthyosis.

  5. HARLEQUIN ICTHYOSIS: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Pradipprava Paria

    2016-01-01

    Full Text Available Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1:300,000. The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very susceptible to metabolic abnormalitites and infections. They usually do not survive for very long. we report here a case of a new born with harlequin ichthyosis of consaguinious parentage who had a history of similar birth previously.

  6. Modern concepts of pathogenesis of ichthyosis

    Directory of Open Access Journals (Sweden)

    Світлана Володимирівна Дмитренко

    2015-06-01

    Full Text Available The modern concepts of ichthyosis are rather ambiguous and need more precise definition. The modern conception of pathogenesis of ichthysosis is offered and considered in this article.Aim. An aim is to analyze received data of our researches about molecular disturbances of keratin on the background of ichthyosis and the current data on the pathogenesis of disease.Materials and methods. An analysis of the results of research in 70 patients with ichthyosis by the methods of the flow cytometry, immunohistochemistry and by immunologic methods is presented in an article.Results. Authors revealed molecular, immunologic and immunohistochemical changes that realizes the disturbance of keratinization on the background of this disease. The model of pathogenesis of the various manifestations of gene mutations that causes ichthyosis is proposed and it can be taken into account when elaborating the new directions of therapy.Conclusions. Gene mutations that cause ichthyosis realizes on the background of disturbance of the cell cycle causing cornification and disturb the local and general immune reactions that summarily lead to the clinical presentations of disease. 

  7. Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

    Science.gov (United States)

    Winata, S; Arhya, I N; Moeljopawiro, S; Hinnant, J T; Liang, Y; Friedman, T B; Asher, J H

    1995-01-01

    Bengkala is an Indonesian village located on the north shore of Bali that has existed for over 700 years. Currently, 2.2% of the 2185 people in this village have profound congenital deafness. In response to the high incidence of deafness, the people of Bengkala have developed a village specific sign language which is used by many of the hearing and deaf people. Deafness in Bengkala is congenital, sensorineural, non-syndromal, and caused by a fully penetrant autosomal recessive mutation at the DFNB3 locus. The frequency of the DFNB3 mutation is estimated to be 9.4% among hearing people who have a 17.2% chance of being heterozygous for DFNB3. PMID:7616538

  8. Ichthyosis vulgaris

    DEFF Research Database (Denmark)

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

    2013-01-01

    in this review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does......-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel...... 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...

  9. Generalized and Naevoid Epidermolytic Ichthyosis in Denmark

    DEFF Research Database (Denmark)

    Bygum, Anette; Virtanen, Marie; Brandrup, Flemming

    2012-01-01

    A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire...... and a systematic examination together with photographs, histopathological descriptions and blood samples for mutational analysis. Sixteen patients from 12 families with generalized or naevoid epidermolytic ichthyosis and ichthyosis bullosa of Siemens were identified. Five families had mutations in K1 and 6...... 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...

  10. FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

    Directory of Open Access Journals (Sweden)

    Dahl Niklas

    2011-03-01

    Full Text Available Abstract Background Ichthyosis Prematurity Syndrome (IPS is an autosomal recessive disorder characterized by premature birth, non-scaly ichthyosis and atopic manifestations. The disease was recently shown to be caused by mutations in the gene encoding the fatty acid transport protein 4 (FATP4 and a specific reduction in the incorporation of very long chain fatty acids (VLCFA into cellular lipids. Findings We screened probands from five families segregating IPS for mutations in the FATP4 gene. Four probands were compound heterozygous for four different mutations of which three are novel. Four patients were heterozygous and one patient homozygous for the previously reported non-sense mutation p.C168X (c.504c > a. All patients had clinical characteristics of IPS and a similar clinical course. Conclusions Missense mutations and non-sense mutations in FATP4 are associated with similar clinical features suggesting that missense mutations have a severe impact on FATP4 function. The results broaden the mutational spectrum in FATP4 associated with IPS for molecular diagnosis of and further functional analysis of FATP4.

  11. X-linked ichthyosis: clinical and molecular findings in 35 Italian patients.

    Science.gov (United States)

    Diociaiuti, Andrea; Angioni, Adriano; Pisaneschi, Elisa; Alesi, Viola; Zambruno, Giovanna; Novelli, Antonio; El Hachem, May

    2018-04-19

    Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis. Neuropsychiatric, ophthalmological and pediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty-seven patients had a complete STS deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo STS deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that STS deletion can also occur in oogenesis. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  12. 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....

  13. Dermatoglyphics in Ichthyosis and Alopecia Areata

    Directory of Open Access Journals (Sweden)

    K C Verma

    1981-01-01

    Full Text Available A total of 80 cases comprising of 40 controls and twenty each of ichthyosis and alopecia areata were studied for dermatoglyphic patterns and ridge count. Statistically significant increased incidence of whorl pattern was observed in female cases of autosomal dominant and sex linked ichthyosis. Significant change in the distribution of patterns was found in female cases of alopecia areata. -

  14. Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Xiaodong Jiao

    Full Text Available This study was initiated to identify causal mutations responsible for autosomal recessive congenital cataracts in consanguineous familial cases.Affected individuals underwent a detailed ophthalmological and clinical examination, and slit-lamp photographs were ascertained for affected individuals who have not yet been operated for the removal of the cataractous lens. Blood samples were obtained, and genomic DNA was extracted from white blood cells. A genome-wide scan was completed with short tandem repeat (STR markers, and the logarithm of odds (LOD scores were calculated. Protein coding exons of CRYAB were sequenced, bi-directionally. Evolutionary conservation was investigated by aligning CRYAB orthologues, and the expression of Cryab in embryonic and postnatal mice lens was investigated with TaqMan probe.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis suggested a potential region on chromosome 11q23 harboring CRYAB. DNA sequencing identified a missense variation: c.34C>T (p.R12C in CRYAB that segregated with the disease phenotype in the family. Subsequent interrogation of our entire cohort of familial cases identified a second familial case localized to chromosome 11q23 harboring a c.31C>T (p.R11C mutation. In silico analyses suggested that the mutations identified in familial cases, p.R11C and p.R12C will not be tolerated by the three-dimensional structure of CRYAB. Real-time PCR analysis identified the expression of Cryab in mouse lens as early as embryonic day 15 (E15 that increased significantly until postnatal day 6 (P6 with steady level of expression thereafter.Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.

  15. Congenital anomalies in black South African liveborn neonates at ...

    African Journals Online (AJOL)

    hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

  16. Ichthyosis hystrix

    Directory of Open Access Journals (Sweden)

    Surajit Nayak

    2013-01-01

    Full Text Available The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition.

  17. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

    International Nuclear Information System (INIS)

    Peserico, A.; Bertoli, P.; Battistella, P.A.

    1992-01-01

    PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination. (orig.)

  18. MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S

    Energy Technology Data Exchange (ETDEWEB)

    Peserico, A.; Bertoli, P. (Ist. di Clinica Dermosifilopatica, Padua Univ. (Italy)); Battistella, P.A. (Dipt. di Pediatria, Padua Univ. (Italy))

    1992-08-01

    PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination. (orig.).

  19. Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

    Directory of Open Access Journals (Sweden)

    Seçil Arslansoyu Çamlar

    2013-03-01

    Full Text Available Chanarin-Dorfman syndrome (CDS is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.

  20. Ichthyosis vulgaris: the filaggrin mutation disease.

    Science.gov (United States)

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

    2013-06-01

    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 review article, FLG mutations are observed in approximately 7·7% of Europeans and 3·0% of Asians, but appear to be infrequent in darker-skinned populations. This clinical review article provides an overview of ichthyosis vulgaris epidemiology, related disorders and pathomechanisms. Not only does ichthyosis vulgaris possess a wide clinical spectrum, recent studies suggest that carriers of FLG mutations may have a generally altered risk of developing common diseases, even beyond atopic disorders. Mechanistic studies have shown increased penetration of allergens and chemicals in filaggrin-deficient skin, and epidemiological studies have found higher levels of hand eczema, irritant contact dermatitis, nickel sensitization and serum vitamin D levels. When relevant, individuals should be informed about an increased risk of developing dermatitis when repeatedly or continuously exposed to nickel 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 barrier functions and increase the risk of atopic dermatitis. © 2013 The Authors. BJD © 2013 British Association of Dermatologists.

  1. 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.

  2. [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.

  3. Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Bushra Irum

    Full Text Available To identify the molecular basis of non-syndromic autosomal recessive congenital cataracts (arCC in a consanguineous family.All family members participating in the study received a comprehensive ophthalmic examination to determine their ocular phenotype and contributed a blood sample, from which genomic DNA was extracted. Available medical records and interviews with the family were used to compile the medical history of the family. The symptomatic history of the individuals exhibiting cataracts was confirmed by slit-lamp biomicroscopy. A genome-wide linkage analysis was performed to localize the disease interval. The candidate gene, LIM2 (lens intrinsic membrane protein 2, was sequenced bi-directionally to identify the disease-causing mutation. The physical changes caused by the mutation were analyzed in silico through homology modeling, mutation and bioinformatic algorithms, and evolutionary conservation databases. The physiological importance of LIM2 to ocular development was assessed in vivo by real-time expression analysis of Lim2 in a mouse model.Ophthalmic examination confirmed the diagnosis of nuclear cataracts in the affected members of the family; the inheritance pattern and cataract development in early infancy indicated arCC. Genome-wide linkage analysis localized the critical interval to chromosome 19q with a two-point logarithm of odds (LOD score of 3.25. Bidirectional sequencing identified a novel missense mutation, c.233G>A (p.G78D in LIM2. This mutation segregated with the disease phenotype and was absent in 192 ethnically matched control chromosomes. In silico analysis predicted lower hydropathicity and hydrophobicity but higher polarity of the mutant LIM2-encoded protein (MP19 compared to the wild-type. Moreover, these analyses predicted that the mutation would disrupt the secondary structure of a transmembrane domain of MP19. The expression of Lim2, which was detected in the mouse lens as early as embryonic day 15 (E15

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

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    Uluç Yis

    2016-01-01

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

  5. Congenital upper eyelids ectropion in Down’s syndrome

    Directory of Open Access Journals (Sweden)

    Corredor-Osorio, Rafael

    2017-02-01

    Full Text Available Congenital bilateral ectropion of the upper eyelids is a rare, benign condition reported in ophthalmic literature. It is more frequently associated with Down’s syndrome, ichthyosis, and sporadic cases in newborns from black population. We report three cases of congenital bilateral upper eyelid ectropion associated with Down’s syndrome. Management of these patients usually requires medial and lateral canthoplasties, full-thickness pentagonal resection of the upper eyelids and placement of skin grafts. We present herein the evolution of one of these patients and we will discuss the mechanism of the eyelid ectropion and its treatment.

  6. CONGENITAL EYELID EVERSION - A CASE REPORT WITH REVIEW OF LITERATURE

    Directory of Open Access Journals (Sweden)

    Chinmayee

    2015-03-01

    Full Text Available INTRODUCTION: Congenital eversion of the eyelids, a condition usually seen shortly after birth is a rare condition affecting one or both eyelids of the eye. Many etiologies have been described but no specific cause has been identified. We report a case of congenital eve rsion of eyelids which was managed conservatively with spontaneous correction seen in 6 days. KEYMESSAGE: Congenital eversion of the eyelids is a rare easily identifiable and potentially treatable condition. Decision of surgical intervention has to be take n with care and must be individualized for each case. Congenital eversion must be differentiated from congenital ectropion due to causes like ichthyosis as the treatment widely differs. All ophthalmologists need to be aware of this condition as it can be e asily managed on an outpatient basis

  7. Acquired ichthyosis with hoffman's syndrome

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    Sathyanarayana B

    2003-01-01

    Full Text Available A middle aged man presented with features of acquired ichthyosis with Hoffman's syndrome. Laboratory tests support hypothyodism. Myoedema and hypertrophy of muscles were present. Patient was previously treated for Pellagra.

  8. [A case of skin autograft for skin ulcers in ichthyosis].

    Science.gov (United States)

    Li, Shiwei; Yang, Xiaodong; Liu, Lijun; Tang, Xueyang

    2017-10-28

    Ichthyosis refers to a group of skin diseases characterized by abnormal keratinization of the epidermis, resulting in dryness, roughness and scale of the skin. A girl with ichthyosis, who presented with skin ulcers and infection of the right dorsal foot, was admitted to our department. An autologous razor-thin skin grafting procedure was performed to repair the skin ulcers after debridement and vacuum sealing drain. After 8 months of follow-up, both the donor and recipient site healed well and there were no newly formed ulcers or infections. Although the skin quality of ichthyosis is poor, the lesion area can still be used as donor or recipient cite.

  9. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  10. 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.

  11. Cervical intraepitheial neoplasm with ichthyosis uteri- A case report

    Directory of Open Access Journals (Sweden)

    Karishma Malla Vaidya

    2018-04-01

    Full Text Available A rare condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium is called Ichthyosis uteri. 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.Here we report a case of intraepithelial neoplasm III, with ichthyosis uteri. A 75-years-old female with hypetension, underwent total abdominal hysterectomy with bilateral salphingo-ophorectomy for watery discharge per vaginal since four months.

  12. Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.

    Science.gov (United States)

    Irum, Bushra; Khan, Shahid Y; Ali, Muhammad; Daud, Muhammad; Kabir, Firoz; Rauf, Bushra; Fatima, Fareeha; Iqbal, Hira; Khan, Arif O; Al Obaisi, Saif; Naeem, Muhammad Asif; Nasir, Idrees A; Khan, Shaheen N; Husnain, Tayyab; Riazuddin, Sheikh; Akram, Javed; Eghrari, Allen O; Riazuddin, S Amer

    2016-01-01

    The aim of this study is to identify the molecular basis of autosomal recessive congenital cataracts (arCC) in a large consanguineous pedigree. All participating individuals underwent a detailed ophthalmic examination. Each patient's medical history, particularly of cataracts and other ocular abnormalities, was compiled from available medical records and interviews with family elders. Blood samples were donated by all participating family members and used to extract genomic DNA. Genetic analysis was performed to rule out linkage to known arCC loci and genes. Whole-exome sequencing libraries were prepared and paired-end sequenced. A large deletion was found that segregated with arCC in the family, and chromosome walking was conducted to estimate the proximal and distal boundaries of the deletion mutation. Exclusion and linkage analysis suggested linkage to a region of chromosome 6p24 harboring GCNT2 (glucosaminyl (N-acetyl) transferase 2) with a two-point logarithm of odds score of 5.78. PCR amplifications of the coding exons of GCNT2 failed in individuals with arCC, and whole-exome data analysis revealed a large deletion on chromosome 6p in the region harboring GCNT2. Chromosomal walking using multiple primer pairs delineated the extent of the deletion to approximately 190 kb. Interestingly, a failure to amplify a junctional fragment of the deletion break strongly suggests an insertion in addition to the large deletion. Here, we report a novel insertion/deletion mutation at the GCNT2 locus that is responsible for congenital cataracts in a large consanguineous family.

  13. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome

    NARCIS (Netherlands)

    van Steensel, Maurice A. M.; van Geel, Michel; Nahuys, Marc; Smitt, J. Henk Sillevis; Steijlen, Peter M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  14. A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

    NARCIS (Netherlands)

    Steensel, M.A.M. van; Geel, M. van; Nahuys, M.; Smitt, J.H.; Steijlen, P.M.

    2002-01-01

    Keratitis-ichthyosis-deafness syndrome is a rare disorder characterized by erythrokeratoderma, deafness, and keratitis. Scarring alopecia and squamous cell carcinoma can also occur. Most cases described so far were sporadic. Here we present evidence that keratitis-ichthyosis-deafness syndrome is

  15. Congenital Double Elevator Palsy with Sensory Exotropia: A Unique Surgical Management.

    Science.gov (United States)

    Nagpal, R C; Raj, Anuradha; Maitreya, Amit

    2017-01-01

    To report a unique surgical approach for congenital double elevator palsy with sensory exotropia. A 7-year-old boy with congenital double elevator palsy and sensory exotropia was managed surgically by Callahan's procedure with recession and resection of the horizontal recti for exotropia without inferior rectus recession, followed by frontalis sling surgery for congenital ptosis. Favourable surgical outcome was achieved without any complication.

  16. A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

    Science.gov (United States)

    2014-01-01

    Background A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder. Methods Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer. Results DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*). Conclusions Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals. PMID:24571530

  17. 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.

  18. Estudio molecular en dos hermanas afectadas por ictiosis congénita autosómica recesiva : descripción de una nueva mutación causal en TGM1

    OpenAIRE

    Moreno Saboya, Meyid Bernardo

    2016-01-01

    Se describe la variante homocigota c.320-2A>G de TGM1 en dos hermanas con ictiosis congénita autosómica recesiva. El clonaje de los transcritos generados por esta variante permitió identificar tres mecanismos moleculares de splicing alternativos. The variant c.320-2A> G of TGM1 is described in two sisters with autosomal recessive congenital ichthyosis. The cloning of the transcripts generated by this variant allowed the identification of three alternative molecular splicing mechanisms. ...

  19. Topical cholesterol in clofazimine induced ichthyosis

    Directory of Open Access Journals (Sweden)

    Pandey S

    1994-01-01

    Full Text Available Topical application of 10% cholesterol in petrolatum significantly (P< 0.05 controlled the development of ichthyosis in 62 patients taking 100 mg clofazimine daily for a period of 3 months. However, topical cholesterol application did not affect the lowering of serum cholesterol induced by oral clofazimine. Probable mechanism of action is being discussed.

  20. Treatment of ichthyosis lamellaris using a series of herbal skin care products family.

    Science.gov (United States)

    Tirant, M; Bayer, P; Hercogovấ, J; Fioranelli, M; Gianfaldoni, S; Chokoeva, A A; Tchernev, G; Wollina, U; Novotny, F; Roccia, M G; Maximov, G K; França, K; Lotti, T

    2016-01-01

    Lamellar ichthyosis (LI) is a genetically heterogeneous group of disorders of keratinization that are inherited in an autosomal recessive fashion, occurring in approximately 1 in 300,000 live births. The treatment of the large, dark, plate-like scales that characterize the classic manifestation of the disease are still a challenge. The aim of this study was to evaluate the efficacy and tolerability of Dr. Michaels® skin-care products for the management of LI. A multi-centre European prospective study was conducted, including 10 patients (3 female/7 male) with lamellar ichthyosis, aged 38-54 years old (mean age: 46). Each patient had been treated with emollients plus other different systemic therapies, such as corticosteroids, Cyclosporin A or retinoids in the past. All patients were treated with Dr Michaels® product family including both topical and oral herbal supplements. The topical treatments used were the cleansing gel, activator formula and ointment. The oral medications were PSC 200, PSC 400 and PSC 900. Within 3 weeks of initiation of treatment, there were improvements observed on the skin including a reduction in scaling, fissuring, and intensity in erythema and pruritus with thinning of the hyperkeratotic plate. After 12-15 weeks, most of the plates and scales had been removed to reveal a normalised skin colour. Evidence of hair, eyelash and eyebrow growth was observed. There was partial nail resolution with a reduction in subungual hyperkeratosis. No adverse reactions were observed. Our patients showed excellent symptomatic response to treatment within a 14-week period, follow-up by an on-going regular assessment on a quarterly basis. The results show that Dr Michaels® product family is an effective and safe treatment option for LI.

  1. Lamellar ichthyosis (collodian baby with severe bilateral ectropion

    Directory of Open Access Journals (Sweden)

    Boparai M

    1988-01-01

    Full Text Available A case of lamellar ichthyosis (collodian baby, is being reported. Skin biopsy has confirmed the diagnosis. Severe bilateral ectropion of thee eyelids was the prominent feature. Management of such cases has been briefly discussed.

  2. Ichthyosis hystrix disease or verrucous epidermal nevus (a retrospective analysis of 20-year observation

    Directory of Open Access Journals (Sweden)

    V. D. El'kin

    2017-01-01

    Full Text Available We present a  clinical case of ichthyosis hystrix, a rare genetic ichthyosiform dermatosis. Specifics of the disease are related to the complexity of differential diagnosis and verification of the diagnosis, because clinical manifestation of ichthyosis hystrix is similar with that of verrucous epidermal nevus. Clinical particulars of both nosologies are characterized by bizarre and widespread skin lesions of spicular hyperkeratotic growth, located along Blaschko lines. The exclusive feature of the clinical case described is a  long-term (20 years clinical and laboratory monitoring of the patient. The literature review provides brief information on etiology, pathogenesis, clinical features, differential diagnosis, and pathomorphology of ichthyosis hystrix and verrucous epidermal nevus.

  3. Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris

    Directory of Open Access Journals (Sweden)

    Leight H

    2015-09-01

    Full Text Available Hayley Leight, Zachary Zinn, Omid JalaliDepartment of Dermatology, West Virginia University, Morgantown, WV, USA Abstract: Here, we report a case of a middle-aged woman presenting with severe, long-standing, hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis of ichthyosis vulgaris was confirmed by histopathology. Etiology, prevalence, and treatment options are discussed. Keywords: filaggrin gene, FLG, profilaggrin, keratohyalin granules, hyperkeratosis

  4. 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.

  5. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  6. Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

    Science.gov (United States)

    Bonioli, E; Palmieri, A; Bertola, A; Bellini, C

    1995-01-01

    Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

  7. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

    Science.gov (United States)

    Diociaiuti, Andrea; El Hachem, May; Pisaneschi, Elisa; Giancristoforo, Simona; Genovese, Silvia; Sirleto, Pietro; Boldrini, Renata; Angioni, Adriano

    2016-01-13

    The term ichthyosis describes a generalized disorder of cornification characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad group of genes related to keratinocyte differentiation and epidermal barrier function have been demonstrated to play a causative role in disease development. Ichthyosis may be classified in syndromic or non-syndromic forms based on the occurrence or absence of extracutaneous signs. In this setting, the diagnosis of ichthyosis is an integrated multistep process requiring a multidisciplinary approach in order to formulate the appropriate diagnostic hypothesis and to address the genetic testing. Due to the complex features of the different ichthyoses and the high number of genes involved we have investigated a group of 64 patients, affected by syndromic and non-syndromic diseases, using Next Generation Sequencing as a new tool for the molecular diagnosis. Using this innovative molecular approach we were able to find pathogenic mutations in 53 out of 64 patients resulting in 82.8 % total detection rate. An interesting result from the analysis of the data is the high rate of novel sequence variations found compared to known mutations and the relevant rate of homozygous mutations. The possibility to analyze a large number of genes associated with various diseases allows to study cases with phenotypes not well-determined, giving the opportunity to make new genotype-phenotype correlation. In some cases there were discrepancies between clinical features and histology or electron microscopy and only molecular analysis allowed to definitively resolve the diagnostic dilemma. The genetic diagnosis of ichthyosis leads to a more accurate and effective genetic counseling, allowing correct evaluation of the risk of recurrence, particularly in families with consanguineous background.

  8. AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CONGENITAL HEPATIC FIBROSIS: SUMMARY STATEMENT OF A FIRST NATIONAL INSTITUTES OF HEALTH/OFFICE OF RARE DISEASES CONFERENCE

    Science.gov (United States)

    Gunay-Aygun, Meral; Avner, Ellis D.; Bacallo, Robert L.; Choyke, Peter L.; Flynn, Joseph T.; Germino, Gregory G.; Guay-Woodford, Lisa; Harris, Peter; Heller, Theo; Ingelfinger, Julie; Kaskel, Frederick; Kleta, Robert; LaRusso, Nicholas F.; Mohan, Parvathi; Pazour, Gregory J.; Shneider, Benjamin L.; Torres, Vicente E.; Wilson, Patricia; Zak, Colleen; Zhou, Jing; Gahl, William A.

    2010-01-01

    Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by the ARPKD/CHF Alliance. The meeting addressed the present status and the future of ARPKD/CHF research. PMID:16887426

  9. Neu-Laxova syndrome in an appropriate for gestational age newborn

    Directory of Open Access Journals (Sweden)

    Dilli Dilek

    2008-01-01

    Full Text Available Neu-Laxova syndrome is a rare lethal congenital disorder involving multiple systems. Intrauterine growth retardation, ichthyosis, microcephaly, abnormal facial findings, and limb contractures are its key features. We present a case of Neu-Laxova syndrome in a male appropriate for gestational age (AGA newborn with characteristic features including ichthyosis, microcephaly, severe ectropion, rudimentary ears, eclabion, limb contractures, and hypoplastic genitalia. The patient was born at 38 weeks of gestation to consanguinous Turkish parents. The mother was a 20-year-old primi gravida with lack of prenatal follow-up. Therefore, the case was diagnosed postnatally, and he died 5 days later. Because of the autosomal recessive inheritance of Neu-Laxova syndrome, in countries with high rates of consanguineous marriage, such as Turkey, physicians have to know this syndrome, and serial prenatal ultrasound examinations with genetic counseling should be performed on pregnant women at high risk. To the best of our knowledge, this is the first case described in an AGA newborn.

  10. Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation

    Science.gov (United States)

    Gregory, L. C.; Humayun, K. N.; Turton, J. P. G.; McCabe, M. J.; Rhodes, S. J.

    2015-01-01

    Background: LHX4 encodes a member of the LIM-homeodomain family of transcription factors that is required for normal development of the pituitary gland. To date, only incompletely penetrant heterozygous mutations in LHX4 have been described in patients with variable combined pituitary hormone deficiencies. Objective/Hypothesis: To report a unique family with a novel recessive variant in LHX4 associated with a lethal form of congenital hypopituitarism that was identified through screening a total of 97 patients. Method: We screened 97 unrelated patients with combined pituitary hormone deficiency, including 65% with an ectopic posterior pituitary, for variants in the LHX4 gene using Sanger sequencing. Control databases (1000 Genomes, dbSNP, Exome Variant Server, ExAC Browser) were consulted upon identification of variants. Results: We identified the first novel homozygous missense variant (c.377C>T, p.T126M) in two deceased male patients of Pakistani origin with severe panhypopituitarism associated with anterior pituitary aplasia and posterior pituitary ectopia. Both were born small for gestational age with a small phallus, undescended testes, and mid-facial hypoplasia. The parents' first-born child was a female with mid-facial hypoplasia (DNA was unavailable). Despite rapid commencement of hydrocortisone and T4 in the brothers, all three children died within the first week of life. The LHX4(p.T126M) variant is located within the LIM2 domain, in a highly conserved location. The absence of homozygosity for the variant in over 65 000 controls suggests that it is likely to be responsible for the phenotype. Conclusion: We report, for the first time to our knowledge, a novel homozygous mutation in LHX4 associated with a lethal phenotype, implying that recessive mutations in LHX4 may be incompatible with life. PMID:25871839

  11. Paraneoplastic addisonian pigmentation and acquired ichthyosis as presenting features of multiple myeloma

    International Nuclear Information System (INIS)

    Dar, N.R.; Raza, N.

    2010-01-01

    Black brown hyperpigmentation of the mucosae, sun exposed skin, palmar creases and frictional sites (Addisonian pigmentation) is characteristic of Addison disease. However, it can also occur as a para neoplastic manifestation of tumours like bronchogenic carcinoma. Acquired ichthyosis starts later in life and can also be a para neoplastic presentation.We report a unique combination of para neoplastic Addisonian pigmentation and acquired ichthyosis as presenting features in a patient with undiagnosed multiple myeloma. To the best of our knowledge this combination of para neoplastic dermatosis has not been documented before in multiple myeloma. It is concluded that the presence of more than one suspicious dermatosis may be an indicator of being para neoplastic requiring necessary work-up. (author)

  12. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB).

    Science.gov (United States)

    Berger, W; van Duijnhoven, G; Pinckers, A; Smits, A; Ropers, H H; Cremers, F

    1995-01-01

    Linkage analysis has been performed in a large Dutch pedigree with X-linked recessive congenital stationary night blindness (CSNB) by utilizing 16 DNA markers from the proximal short arm of the human X chromosome (Xp21.1-11.2). Thirteen polymorphic markers are at least partially informative and have enabled pairwise and multipoint linkage analysis. For three loci, i.e. DXS228, the monoamine oxidase B gene and the Norrie disease gene (NDG), multipoint linkage studies have yielded maximum lod scores of > 3.0 at a recombination fraction of zero. Analysis of recombination events has enabled us to rule out the possibility that the underlying defect in this family is allelic to RP3; the gene defect could also be excluded from the proximal part of the region known to carry RP2. Linkage data are consistent with a possible involvement of the NDG but mutations in the open reading frame of this gene have not been found.

  13. Clinico- Pathological Study Of Ichthyosis Vulgaris

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    Nandy Utpal

    1997-01-01

    Full Text Available A clinico- pathological study of 28 cases of ichthyosis vulgaris appeared with in the age of 5 years. The presence of the disease since birth was also found. While most (24 patients showed a diminution of severity in summer with an aggravation during winter, 4 patients followed the opposite seasonal pattern. Only in 4 patients, fine scales in the scalp were detected. One patient showed an affection of flexures. There was also a low occurrence of palmo- planter hyperkeratosis, follicular keratosis, fissuring of hands and feet and atopy.

  14. Renal abnormalities in congenital chloride diarrhea

    International Nuclear Information System (INIS)

    Al-Hamad, Nadia M.; Al-Eisa, Amal A.

    2004-01-01

    Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

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

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    V.A. Klymenko

    2015-09-01

    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.

  16. 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.

  17. 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.

  18. 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.

  19. Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    Full Text Available CONTEXT: The autosomal recessive form of microcephaly-chorioretinopathy syndrome is a rare genetic condition that is considered to be an important differential diagnosis with congenital toxoplasmosis.CASE REPORT: Our patient was a seven-year-old white boy who was initially diagnosed with congenital toxoplasmosis. However, his serological tests for congenital infections, including toxoplasmosis, were negative. He was the first child of young, healthy and consanguineous parents (fourth-degree relatives. The parents had normal head circumferences and intelligence. The patient presented microcephaly and specific abnormalities of the retina, with multiple diffuse oval areas of pigmentation and patches of chorioretinal atrophy associated with diffuse pigmentation of the fundus. Ophthalmological evaluations on the parents were normal. A computed tomography scan of the child's head showed slight dilation of lateral ventricles and basal cisterns without evidence of calcifications. We did not find any lymphedema in his hands and feet. He had postnatal growth retardation, severe mental retardation and cerebral palsy.CONCLUSIONS: The finding of chorioretinal lesions in a child with microcephaly should raise suspicions of the autosomal recessive form of microcephaly-chorioretinopathy syndrome, especially in cases with an atypical pattern of eye fundus and consanguinity. A specific diagnosis is essential for an appropriate clinical evaluation and for genetic counseling for the patients and their families.

  20. Unilateral Autosomal Recessive Anophthalmia in a Patient with Cystic Craniopharyngioma

    Science.gov (United States)

    Kumar, Amandeep; Bansal, Ankit; Garg, Ajay; Sharma, Bhawani S.

    2014-01-01

    Abstract Anophthalmia is a rare ocular malformation. It is a genetically determined disorder and is typically associated with syndromes. However, sporadic nonsyndromic familial as well as non-familial cases of anophthalmia have also been reported. Non-syndromic familial cases are usually bilateral and have been attributed to autosomal recessive, autosomal dominant, and X-linked inheritance patterns. The authors hereby report a rare case of autosomal recessive unilateral anophthalmia in a patient with no other associated congenital anomaly. Patient was operated for craniopharyngioma. The clinical, radiological and intraoperative findings are discussed. PMID:27928292

  1. JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance.

    Science.gov (United States)

    Hoeve, Hans L J; Brooks, Alice S; Smit, Liesbeth S

    2015-07-01

    We report on a family with a not earlier described multiple congenital malformation. Several male family members suffer from laryngeal obstruction caused by bilateral vocal cord paralysis, outer and middle ear deformity with conductive and sensorineural hearing loss, facial dysmorphisms, and underdeveloped shoulder musculature. The affected female members only have middle ear deformity and hearing loss. The pedigree is suggestive of an X-linked recessive inheritance pattern. SNP-array revealed a deletion and duplication on Xq28 in the affected family members. A possible aetiology is a neurocristopathy with most symptoms expressed in structures derived from branchial arches. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  2. Você conhece esta síndrome? Do you know this syndrome?

    Directory of Open Access Journals (Sweden)

    Marcela Duarte Villela Benez

    2010-12-01

    Full Text Available Relatamos um caso típico, em um paciente masculino de 20 anos, da síndrome de Sjögren-Larsson, que é uma doença neurocutânea, autossômica recessiva e incapacitante, caracterizada por ictiose congênita, plegia espástica e retardo mental. É causada pela deficiência da enzima aldeído graxo desidrogenase. Não tem cura, porém a maioria dos pacientes sobrevive até a idade adulta. O tratamento deve ser multidisciplinar e a terapia dermatológica tem o objetivo de aliviar o prurido persistente e a ictiose.We report a typical case of Sjogren-Larsson syndrome in a male patient, aged 20. The Sjogren-Larsson syndrome is a neurocutaneous, autosomal recessive and disabling condition, characterized by congenital ichthyosis, spastic paraplegia and mental retardation. It is caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. It has no cure, but most patients survive up to an adult age. Treatment should be multidisciplinary and dermatological therapy aims at relieving the persistent itching and ichthyosis.

  3. Congenital generalized lipodystrophia: a case report

    International Nuclear Information System (INIS)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V.

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs

  4. 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.

  5. Inheritance of congenital cataracts and microphthalmia in the Miniature Schnauzer.

    Science.gov (United States)

    Gelatt, K N; Samuelson, D A; Bauer, J E; Das, N D; Wolf, E D; Barrie, K P; Andresen, T L

    1983-06-01

    Congenital cataracts and microphthalmia in the Miniature Schnauzer were inherited as an autosomal recessive trait. Eighteen matings of affected X affected Miniature Schnauzers resulted in 87 offspring with congenital cataracts and microphthalmia (49 males/38 females). Two matings of congenital cataractous and microphthalmic Miniature Schnauzers (2 females) X a normal Miniature Schnauzer (1 male) yielded 11 clinically normal Miniature Schnauzers (7 males/4 females). Eighteen matings of congenital cataractous and microphthalmic Miniature Schnauzers (6 males) X carrier Miniature Schnauzers (9 females) produced 81 offspring; 39 exhibited congenital cataracts and microphthalmia (20 males/19 females) and 42 had clinically normal eyes (17 males/25 females).

  6. Maxillary Hypoplasia With Congenital Oligodontia Treated by Maxillary Distraction Osteogenesis.

    Science.gov (United States)

    Mishima, Sayaka; Yamaguchi, Takako; Watanabe, Takuma; Komatani, Toru; Nakao, Kazumasa; Takahashi, Katsu; Bessho, Kazuhisa

    2018-02-27

    It is known that congenitally missing teeth can often cause differences in craniofacial morphology; however, there are few reported cases of orthognathic surgical treatment for these patients. Herein, the authors report a rare case of maxillary hypoplasia with congenital oligodontia treated by maxillary distraction osteogenesis with internal device. A 17-year-old male presenting with multiple tooth agenesis and maxillary recession was referred to our hospital for orthognathic surgical treatment. Preoperative simulation surgery was performed using Full-Color 3-dimensional salt model. After surgery, improvement in maxillary recession and occlusal stability was observed. This report demonstrates the advantages of the method used herein, which includes reduction in operating time with increase in the safety of the procedure.

  7. Collodion Baby with TGM1 gene mutation

    Directory of Open Access Journals (Sweden)

    Sharma D

    2015-09-01

    Full Text Available Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP Salve Medical College, Nagpur, Maharashtra, 4Department of Obstetrics and Gynaecology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, IndiaAbstract: Collodion baby (CB is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation. The infant was lost to follow-up.Keywords: cellophane membrane, c.984+1G>A mutation, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, parchment membrane, TGM1 gene

  8. Japanese family with congenital factor VII deficiency.

    Science.gov (United States)

    Sakakibara, Kanae; Okayama, Yoshiki; Fukushima, Kenji; Kaji, Shunsaku; Muraoka, Michiko; Arao, Yujiro; Shimada, Akira

    2015-10-01

    Congenital factor VII (FVII) deficiency is a rare bleeding disorder with autosomal recessive inheritance. The present female patient was diagnosed with congenital FVII deficiency because of low hepaplastin test (HPT), although vitamin K was given. Heterozygous p.A191T mutation was detected in the peripheral blood, and the same mutation was also found in the mother and sister. To the best of our knowledge, this is the fourth reported case of p.A191T mutation of FVII in the literature and the first to be reported in Japan. FVII coagulation activity (FVII:C) in asymptomatic heterozygous carriers is mildly reduced. Therefore, some patients may not be accurately diagnosed with congenital FVII deficiency. In infants with low HPT without vitamin K deficiency, congenital FVII deficiency should be considered. © 2015 Japan Pediatric Society.

  9. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-01-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

  10. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations

    NARCIS (Netherlands)

    van der Werf, Christine S.; Sribudiani, Yunia; Verheij, Joke B. G. M.; Carroll, Matthew; O'Loughlin, Edward; Chen, Chien-Huan; Brooks, Alice S.; Liszewski, M. Kathryn; Atkinson, John P.; Hofstra, Robert M. W.

    Purpose: Autosomal recessive congenital short bowel syndrome is caused by mutations in CLMP. No mutations were found in the affected males of a family with presumed X-linked congenital short bowel syndrome or in an isolated male patient. Our aim was to identify the disease-causing mutation in these

  11. Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).

    Science.gov (United States)

    Magwebu, Zandisiwe E; Abdul-Rasool, Sahar; Seier, Jürgen V; Chauke, Chesa G

    2018-04-01

    The aim of the study was to evaluate the genetic predisposition of congenital cataract in a colony of captive-bred vervet monkeys. Four congenital cataract genes: glucosaminyl (N-acetyl) transferase 2 (GCNT2), heat shock transcription factor 4 (HSF4), crystallin alpha A (CRYAA) and lens intrinsic membrane protein-2 (LIM2) were screened, sequenced and analysed for possible genetic variants in 36 monkeys. Gene expression was also evaluated in these genes. Fifteen sequence variants were identified in the coding regions of three genes (GCNT2, HSF4 and CRYAA). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the GCNT2 transcripts A, B and C, respectively, which resulted in a downregulated gene expression. Although the three missense mutations in GCNT2 have a benign effect, a possibility exists that the candidate genes (GCNT2, HSF4 and CRYAA) might harbour mutations that are responsible for total congenital cataract. © 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. 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.

  13. Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia

    OpenAIRE

    Saad, Amin F.; Ford, Kenneth L.; dePrisco, Gregory; Smerud, Michael J.

    2013-01-01

    Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

  14. Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia.

    Science.gov (United States)

    Saad, Amin F; Ford, Kenneth L; Deprisco, Gregory; Smerud, Michael J

    2013-07-01

    Congenital adrenal hyperplasia refers to a spectrum of autosomal recessive inherited disorders of steroidogenesis most commonly identified on newborn screenings. We describe a young woman who presented with abdominal pain and on subsequent imaging was found to have features of congenital adrenal hyperplasia. Imaging findings, treatment, and potential complications are discussed.

  15. Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder

    Energy Technology Data Exchange (ETDEWEB)

    Landau, D.; Shalev, H.; Carmi, Rivka; Ohaly, M. [Univ. of the Negev, Ashkelon (Israel)

    1995-12-04

    The infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. 35 refs., 2 figs., 2 tabs.

  16. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  17. 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.

  18. Congenital Amegakaryocytic Thrombocytopenia Type II Presenting with Multiple Central Nervous System Anomalies

    NARCIS (Netherlands)

    Eshuis-Peters, Ellis; Versluys, Anne Brigitta; Stokman, Marijn Fijke; van der Crabben, Saskia Nanette; Nij Bijvank, Sebastiaan W A; van Wezel-Meijler, Gerda

    Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. The combination of CAMT and central nervous system abnormalities is uncommon. We describe a case with a homozygous missense MPL gene mutation and polymicrogyria,

  19. Berardinelli-Seip congenital lipodystrophy in two siblings

    Directory of Open Access Journals (Sweden)

    T Rao

    2014-01-01

    Full Text Available Berardinelli-Seip congenital lipodystrophy (BSCL is a very rare autosomal recessive disorder characterized by various dermatological and systemic manifestations such as lipoatrophy, hypertriglyceridemia, hepatomegaly, acanthosis nigricans, and acromegaloid features. BSCL type 2 is more common and severe, with onset in the neonatal period or in early infancy. The locus for BSCL2 has been identified on chromosome 11q13. Early recognition and differentiation from other congenital generalized lipodystrophies help in the initiation of appropriate preventive and therapeutic measures such as lifestyle modification and pharmacotherapy that helps postpone the onset of metabolic syndrome. We report BSCL type 2 in two siblings with several cutaneous manifestations like acanthosis nigricans, hypertrichosis, prominent subcutaneous veins, and increased lanugo hair.

  20. Feminising genitoplasty: one-stage genital reconstruction in congenital adrenal hyperplasia: 30 years' experience.

    Science.gov (United States)

    Roll, M F; Kneppo, C; Roth, H; Bettendorf, M; Waag, K-L; Holland-Cunz, S

    2006-10-01

    The study objective is to evaluate the results of our surgical technique for children with congenital adrenal hyperplasia and ambiguous genitalia at the University Hospital of Heidelberg, Department of Paediatric Surgery. The records of 19 patients with congenital adrenal hyperplasia treated between 1972 and 2004 were reviewed with respect to age at surgery, operative procedures and outcome. We describe the recession clitoroplasty technique currently used in our hospital and highlight the importance of short and long-term follow-up results with respect to appearance, position and size of the clitoris and quality of the vagina. One-stage recession clitoroplasty and vaginoplasty gives very satisfactory cosmetic and functional results, with few complications and a reduced need for secondary surgical interventions. The results of this study support the assumption that total correction can be achieved through a single-stage operation, performed in infancy.

  1. Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder

    NARCIS (Netherlands)

    Rossi, A.; Biancheri, R.; Zara, F.; Bruno, C.; Uziel, G.; van der Knaap, M.S.; Minetti, C.; Tortori-Donati, P.

    2008-01-01

    BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity.

  2. Radiological findings of congenital lipoid adrenal hyperplasia: a case report

    International Nuclear Information System (INIS)

    Kim, Mi Jeong; Shin, Joo Yong; Lee, Hee Jung; Lee, Jin Hee; Sohn, Cheol Ho; Lee, Sung Moon; Kim, Hong; Woo, Seong Ku; Suh, Soo Ji

    2001-01-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder characterized by the marked accumulation of lipids and cholesterol in the adrenal cortex, and the failure of adrenal steroids to synthesise. We report the ultrasound (US), computed tomographic (CT), and magnetic resonance (MR) imaging findings in a four-day-old female neonate with CLAH

  3. Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

    Science.gov (United States)

    Zhang, D D; Du, J Z; Topolewski, J; Wang, X M

    2016-07-29

    Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome. Congenital cataract is a symptom associated with several X-linked disorders, including Nance-Horan syndrome, Lowe syndrome, Conradi-Hünermann-Happle syndrome, oculo-facio-cardio-dental syndrome, and Alport syndrome. On the other hand, the mechanism and characteristics of Y-linked congenital cataract remains to be identified. Despite its rarity, sex-linked congenital cataract has been known to seriously affect the quality of life of patients. In this review, we present our current understanding of the genes and loci associated with sex-linked congenital cataract. This could help identify novel approaches for the prevention, early diagnosis, and comprehensive disease treatment.

  4. [Spontaneous models of human diseases in dogs: ichthyoses as an example].

    Science.gov (United States)

    André, Catherine; Grall, Anaïs; Guaguere, Éric; Thomas, Anne; Galibert, Francis

    2013-06-01

    Ichthyoses encompass a heterogeneous group of genodermatoses characterized by abnormal desquamation over the entire body due to defects of the terminal differentiation of keratinocytes and desquamation, which occur in the upper layer of the epidermis. Even though in humans more than 40 genes have already been identified, the genetic causes of several forms remain unknown and are difficult to identify in Humans. Strikingly, several purebred dogs are also affected by specific forms of ichthyoses. In the Golden retriever dog breed, an autosomal recessive form of ichthyosis, resembling human autosomal recessive congenital ichthyoses, has recently been diagnosed with a high incidence. We first characterized the disease occurring in the golden retriever breed and collected cases and controls. A genome-wide association study on 40 unrelated Golden retriever dogs, using the canine 49.000 SNPs (single nucleotide polymorphisms) array (Affymetrix v2), followed by statistical analyses and candidate gene sequencing, allowed to identify the causal mutation in the lipase coding PNPLA1 gene (patatin-like phospholipase domain-containing protein). Screening for alterations in the human ortholog gene in 10 autosomal recessive congenital ichthyoses families, for which no genetic cause has been identified thus far, allowed to identify two recessive mutations in the PNPLA1 protein in two families. This collaborative work between "human" and "canine" geneticists, practicians, histopathologists, biochemists and electron microscopy experts not only allowed to identify, in humans, an eighth gene for autosomal recessive congenital ichthyoses, but also allowed to highlight the function of this as-yet-unknown skin specific lipase in the lipid metabolism of the skin barrier. For veterinary medicine and breeding practices, a genetic test has been developed. These findings illustrate the importance of the discovery of relevant human orthologous canine genetic diseases, whose causes can be tracked

  5. Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo

    Directory of Open Access Journals (Sweden)

    Megan E. MacGillivray

    2018-05-01

    Full Text Available Porphyria cutanea tarda (PCT is a cutaneous porphyria that presents later in life with cutaneous findings in sun-exposed sites. We report a complex case of PCT in a 67-year-old woman with an unusual constellation of cutaneous findings: scleroderma, acquired ichthyosis, and nonscarring alopecia. Possible triggers for her PCT include tamoxifen treatment for breast cancer and carrier status of the hemochromatosis gene. High-dose chloroquine was used to successfully achieve clinical remission and normalize her uroporphyrins. While on chloroquine she developed extensive classic vitiligo. It is not clear if this is another feature of her complex and unusual PCT, or a consequence of her antimalarial therapy.

  6. Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

    Directory of Open Access Journals (Sweden)

    Shotland Lawrence I

    2004-09-01

    Full Text Available Abstract Background Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10. TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449 of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein.

  7. Congenital generalized lipodystrophia: a case report; Lipodistrofia generalizada congenita: relato de um caso

    Energy Technology Data Exchange (ETDEWEB)

    Malheiros, N.R.; Marchiori, E.; Praxedes, M.C.; Machado, D.M.; Carvalho, A.A.V. [Universidade Federal Fluminense, Niteroi, RJ (Brazil). Dept. de Radiologia

    1995-01-01

    Congenital generalized lipodystrophia is a rare genetic disorder, transmitted as an autosomal recessive trait and is prevalent on female. This paper presents a case of a man, 36-year-old, suffering from congenital generalized lipodystrophia with clinical features of diabetes mellitus and dyspnea. Radiographic findings have shown cystic areas in the skeleton, interstitial pulmonary fibrosis and paucity of abdominal fat. Radiological and anatomo-pathological aspects are presented as well as a review of the medical literature about the case. (author). 8 refs, 4 figs.

  8. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

    NARCIS (Netherlands)

    Timal, Sharita; Hoischen, Alexander; Lehle, Ludwig; Adamowicz, Maciej; Huijben, Karin; Sykut-Cegielska, Jolanta; Paprocka, Justyna; Jamroz, Ewa; van Spronsen, Francjan J.; Koerner, Christian; Gilissen, Christian; Rodenburg, Richard J.; Eidhof, Ilse; Van den Heuvel, Lambert; Thiel, Christian; Wevers, Ron A.; Morava, Eva; Veltman, Joris; Lefeber, Dirk J.

    2012-01-01

    Congenital disorders of glycosylation type I (CDG-I) form a growing group of recessive neurometabolic diseases. Identification of disease genes is compromised by the enormous heterogeneity in clinical symptoms and the large number of potential genes involved. Until now, gene identification included

  9. 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.

  10. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  11. Imaging findings in congenital hepatic fibrosis

    International Nuclear Information System (INIS)

    Akhan, Okan; Karaosmanoglu, Ali Devrim; Ergen, Bilge

    2007-01-01

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

  12. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  13. 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.

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

    Directory of Open Access Journals (Sweden)

    Chantelot Christine

    2011-05-01

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

  15. A case report of congenital sensory neuropathy with anhidrosis

    International Nuclear Information System (INIS)

    Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong

    1974-01-01

    Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint

  16. A case report of congenital sensory neuropathy with anhidrosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Won Hyong; Chang, Hae Soon; Han, Man Chung; Lee, Suck Hyun; Lee, Duk Yong [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1974-10-15

    Congenital sensory neuropathy with anhidrosis is rare disease and may be confused with other cause of pain insensitivity or indifference. Other cause of pain insensitivity include congenital indifference to pain, congenital sensory neuropathy, hereditary sensory radicular neuropathy, nonprogressive sensory radicular neuropathy, syringomyelia, and hysterical analgesia. It is hereditary disease which is transmitted with autosomal recessive trait. The patient is 8 years old Korean male with complaint of swelling and local heat on right knee joint. Generalized analgesia is noted on physical examination. The skin is dry and coarse with no evidence of sweating. Delayed motor development was noted on early children. Mental development is retarded. On past history, patient showed unpredictable rises of temperature, though the general condition remained good. Multiple painless fracture on right humerus and right metatasal bone was occurred. Rt.knee radiograms show marked swelling of soft tissue and periosteal calcification on distal femru,which are resemble with neurotrophic joint.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

  18. Ichthyosis Follicularis with Atrichia and Photophobia Syndrome: First Case Report in Thailand

    Directory of Open Access Journals (Sweden)

    Rattanavalai Nitiyarom

    2017-05-01

    Full Text Available We herein describe the first reported case of Ichthyosis Follicularis with Atrichia and Photophobia (IFAP syndrome in Thailand. A 6-year-old boy presented with a history of photophobia since 1 month of age. Then he developed widespread follicular hyperkeratotic papules and subtotal non-scarring alopecia by the age of 10 months and 5 years, respectively. Sparse eyelashes and nail dystrophy were also noted. No neurological abnormalities, systemic involvement, and hearing impairment were observed. The clinical manifestations were consistent with IFAP syndrome, although genetic testing did not confirm the diagnosis of this rare disorder.

  19. Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Gosal Gurinder S

    2011-03-01

    Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

  20. Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

    Directory of Open Access Journals (Sweden)

    Sera Sımsek Derelioglu

    2013-01-01

    Full Text Available KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC and dental treatments done under General Anesthesia (GA were reported.

  1. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

    NARCIS (Netherlands)

    G. Weeda (Geert); E. Eveno; I. Donker (Ingrid); W. Vermeulen (Wim); O. Chevalier-Lagente (Odile); A. Taieb; A. Stary; J.H.J. Hoeijmakers (Jan); M. Mezzina; A. Sarasin

    1997-01-01

    textabstractTrichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis. Photosensitivity has been reported in approximately 50% of the cases, but no skin cancer is

  2. Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.

    Directory of Open Access Journals (Sweden)

    Jacoba J Louw

    2018-01-01

    Full Text Available Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal congenital restrictive cardiomyopathy affecting the right ventricle. We hypothesized a novel autosomal recessive condition. To identify the cause, we performed genetic, in vitro and in vivo studies. Genome-wide SNP typing and parametric linkage analysis was done in a recessive model to identify candidate regions. Exome sequencing analysis was done in unaffected and affected siblings. In the linkage regions, we selected candidate genes that harbor two rare variants with predicted functional effects in the patients and for which the unaffected sibling is either heterozygous or homozygous reference. We identified two compound heterozygous variants in KIF20A; a maternal missense variant (c.544C>T: p.R182W and a paternal frameshift mutation (c.1905delT: p.S635Tfs*15. Functional studies confirmed that the R182W mutation creates an ATPase defective form of KIF20A which is not able to support efficient transport of Aurora B as part of the chromosomal passenger complex. Due to this, Aurora B remains trapped on chromatin in dividing cells and fails to translocate to the spindle midzone during cytokinesis. Translational blocking of KIF20A in a zebrafish model resulted in a cardiomyopathy phenotype. We identified a novel autosomal recessive congenital restrictive cardiomyopathy, caused by a near complete loss-of-function of KIF20A. This finding further illustrates the relationship of cytokinesis and congenital cardiomyopathy.

  3. Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

    DEFF Research Database (Denmark)

    Thomsen, Bo; Nissen, Peter H.; Agerholm, Jørgen S

    2010-01-01

     Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle (Bos taurus) characterized by pathological changes of the myelin sheaths in the spinal cord. The occurrence of BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several...

  4. Recessive omodysplasia: five new cases and review of the literature

    International Nuclear Information System (INIS)

    Elcioglu, Nursel H.; Gustavson, Karl H.; Wilkie, Andrew O.M.; Yueksel-Apak, Memune; Spranger, Juergen W.

    2004-01-01

    Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far. The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age. Five new patients, including two sibs, with autosomal recessive omodysplasia are presented. Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis. Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms. (orig.)

  5. The Great Recession: a comparison of recession magnitudes in Europe, USA and Japan

    OpenAIRE

    Mazurek, Jiří

    2013-01-01

    In this article recession magnitudes in Europe, the USA and Japan during the Great Recession are compared. The strongest recessions (of severe category) occurred in Latvia, Lithuania and Estonia, while recessions in Japan and the USA were significantly weaker. Even the strongest recession (in Latvia) was found smaller in its magnitude than the Great Depression 1929-1933 in the USA. Hence, comparisons of the Great Recession to the Great Depression in the literature are somewhat exaggerated.

  6. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

    Energy Technology Data Exchange (ETDEWEB)

    Turkbey, Baris; Choyke, Peter L. [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); Ocak, Iclal [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Daryanani, Kailash [National Institutes of Health, Clinical Center, Department of Radiology, Bethesda, MD (United States); Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Gahl, William A. [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); Mohan, Parvathi [George Washington University, Department of Pediatric Gastroenterology, Washington, DC (United States); Heller, Theo [National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States); Gunay-Aygun, Meral [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); National Institutes of Health, Intramural Program, Office of Rare Diseases, Office of the Directors, Bethesda, MD (United States)

    2009-02-15

    ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

  7. Forecasting US Recessions

    DEFF Research Database (Denmark)

    Christiansen, Charlotte; Eriksen, Jonas Nygaard; Møller, Stig Vinther

    2014-01-01

    We study the role of sentiment variables as predictors for US recessions. We combine sentiment variables with either classical recession predictors or common factors based on a large panel of macroeconomic and financial variables. Sentiment variables hold vast predictive power for US recessions...

  8. Ichthyosis bullosa of Siemens: Response to topical tazarotene

    Directory of Open Access Journals (Sweden)

    Rajiv S

    2006-01-01

    Full Text Available In 1937, Siemens described a Dutch family with superficial blistering, flexural hyperkeratosis, and characteristic mauserung appearance. Since then, less than 20 kindreds with this condition have been described in the English dermatologic literature. A 14-year-old boy presented with history of recurrent blistering and peeling of skin since the age of 1 month, predominantly seen over limbs and trunk, often associated with secondary infection. His mother also had similar symptoms from childhood. On examination, the child had typical mauserung peeling of the skin and dirty gray hyperkeratosis in a rippled pattern over flexures. Skin biopsy from the boy showed intracorneal blistering with epidermolytic hyperkeratosis in the upper spinous layers. The typical history and clinical features along with characteristic histological findings confirmed our diagnosis of ichthyosis bullosa of Siemens. It must be differentiated from other conditions with epidermolytic hyperkeratosis and skin peeling, such as bullous ichthyosiform erythroderma of Brocq and peeling skin syndrome. Our patient responded well to 0.05% topical tazarotene gel over four weeks.

  9. Congenital sensorineural deafness in Australian stumpy-tail cattle dogs is an autosomal recessive trait that maps to CFA10.

    Directory of Open Access Journals (Sweden)

    Susan Sommerlad

    2010-10-01

    Full Text Available Congenital sensorineural deafness is an inherited condition found in many dog breeds, including Australian Stumpy-tail Cattle Dogs (ASCD. This deafness is evident in young pups and may affect one ear (unilateral or both ears (bilateral. The genetic locus/loci involved is unknown for all dog breeds. The aims of this study were to determine incidence, inheritance mechanism, and possible association of congenital sensorineural deafness with coat colour in ASCD and to identify the genetic locus underpinning this disease.A total of 315 ASCD were tested for sensorineural deafness using the brain stem auditory evoked response (BAER test. Disease penetrance was estimated directly, using the ratio of unilaterally to bilaterally deaf dogs, and segregation analysis was performed using Mendel. A complete genome screen was undertaken using 325 microsatellites spread throughout the genome, on a pedigree of 50 BAER tested ASCD in which deafness was segregating. Fifty-six dogs (17.8% were deaf, with 17 bilaterally and 39 unilaterally deaf. Unilaterally deaf dogs showed no significant left/right bias (p = 0.19 and no significant difference was observed in frequencies between the sexes (p = 0.18. Penetrance of deafness was estimated as 0.72. Testing the association of red/blue coat colour and deafness without accounting for pedigree structure showed that red dogs were 1.8 times more likely to be deaf (p = 0.045. The within family association between red/blue coat colour and deafness was strongly significant (p = 0.00036, with red coat colour segregating more frequently with deafness (COR = 0.48. The relationship between deafness and coat speckling approached significance (p = 0.07, with the lack of statistical significance possibly due to only four families co-segregating for both deafness and speckling. The deafness phenotype was mapped to CFA10 (maximum linkage peak on CFA10 -log10 p-value = 3.64, as was both coat colour and

  10. Congenital Amegakaryocytic Thrombocytopenic Purpura (CAMT)

    International Nuclear Information System (INIS)

    Ghauri, R. I.; Naveed, M.; Mannan, J.

    2014-01-01

    Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone. (author)

  11. A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

    NARCIS (Netherlands)

    Iqbal, Z.; Shahzad, M.; Vissers, L.E.L.M.; Scherpenzeel, M. van; Gilissen, C.; Razzaq, A.; Zahoor, M.Y.; Khan, S.N.; Kleefstra, T.; Veltman, J.A.; Brouwer, A.P.M. de; Lefeber, D.J.; Bokhoven, H. van; Riazuddin, S.

    2013-01-01

    Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17

  12. 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...

  13. A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.

    Science.gov (United States)

    Jivani, Nurin; Torrado-Jule, Carmen; Vaiselbuh, Sarah; Romanos-Sirakis, Eleny

    2016-11-01

    Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.

  14. Heterozygous M1V variant of ELA-2 gene mutation associated with G-CSF refractory severe congenital neutropenia.

    Science.gov (United States)

    Setty, Bhuvana A; Yeager, Nicholas D; Bajwa, Rajinder P

    2011-09-01

    Severe congenital neutropenia is an autosomal recessive disorder characterized by maturation arrest at the promyelocyte/myelocyte phase in the bone marrow, absolute neutrophil count ELA-2 have been described. We report the case of a premature male infant with congenital neutropenia, associated with multiple infections, refractory to treatment with granulocyte colony stimulating factor who subsequently underwent matched sibling donor stem-cell transplant. He was found to be heterozygous for the M1V variant of the ELA-2 gene that we postulate to be causative for his severe neutropenia Copyright © 2011 Wiley-Liss, Inc.

  15. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

    Science.gov (United States)

    Neri, G; Martini-Neri, M E; Katz, B E; Opitz, J M

    1984-09-01

    We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

  16. Acral peeling skin syndrome associated with a novel CSTA gene mutation.

    Science.gov (United States)

    Muttardi, K; Nitoiu, D; Kelsell, D P; O'Toole, E A; Batta, K

    2016-06-01

    Acral peeling skin syndrome (APSS) is a rare autosomal recessive condition, characterized by asymptomatic peeling of the skin of the hands and feet, often linked to mutations in the gene TGM5. However, more recently recessive loss of function mutations in CSTA, encoding cystatin A, have been linked with APSS and exfoliative ichthyosis. We describe the clinical features in two sisters with APSS, associated with a novel large homozygous deletion encompassing exon 1 of CSTA. © 2015 British Association of Dermatologists.

  17. A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy

    Directory of Open Access Journals (Sweden)

    Garima Agrawal Varshney

    2018-01-01

    Full Text Available Acute intermittent porphyria (AIP and ichthyosis vulgaris both are autosomal dominant disorders with incomplete penetrance caused by the deficiency of porphobilinogen deaminase enzyme and filaggrin protein, respectively. We report a rare case of a 9-year-old boy having two genetic diseases with an unclear association. An acute attack of AIP is characterized by gastrointestinal symptoms and neuropsychiatric manifestations. Although rare in the first decade of life, the presence of reddish urine with a typical presentation such as abdominal pain, hypertension, seizure, and paresthesias lead us to the diagnosis of AIP. The precipitating factor in the present case was prolonged fasting in Ramadan.

  18. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  19. Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)

    NARCIS (Netherlands)

    Dill, P.; Schneider, J.; Weber, P.; Trachsel, D.; Tekin, M.; Jakobs, C.A.J.M.; Thony, B.; Blau, N.

    2011-01-01

    We present an 8-year-old boy with folate receptor alpha (FRα) defect and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM syndrome). Both conditions are exceptionally rare autosomal recessive inherited diseases mapped to 11q13. Our patient was found to have novel

  20. Congenital analbuminemia caused by a novel aberrant splicing in the albumin gene.

    Science.gov (United States)

    Caridi, Gianluca; Dagnino, Monica; Erdeve, Omer; Di Duca, Marco; Yildiz, Duran; Alan, Serdar; Atasay, Begum; Arsan, Saadet; Campagnoli, Monica; Galliano, Monica; Minchiotti, Lorenzo

    2014-01-01

    Congenital analbuminemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. It is an allelic heterogeneous defect, caused by variety of mutations within the albumin gene in homozygous or compound heterozygous state. Herein we report the clinical and molecular characterization of a new case of congenital analbuminemia diagnosed in a female newborn of consanguineous (first degree cousins) parents from Ankara, Turkey, who presented with a low albumin concentration (A transition at position c.1652+1, the first base of intron 12, which inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. The splicing defect results in the complete skipping of the preceding exon (exon 12) and in a frame-shift within exon 13 with a premature stop codon after the translation of three mutant amino acid residues. Our results confirm the clinical diagnosis of congenital analbuminemia in the proband and the inheritance of the trait and contribute to shed light on the molecular genetics of analbuminemia.

  1. [Cochlear implantation in a child with congenital sensorineural deafness due to 35 DELG mutation in GJB2 (connexin 26) gene].

    Science.gov (United States)

    Teriutin, F M; Barashkov, N A; Dzhemileva, L U; Posukh, O L; Fedotova, E E; Gurinova, E E; Fedorova, S A; Tavartkiladze, G A; Khusnutdinova, E K

    2009-01-01

    This paper reports the first case of cochlear implantation performed in this country in a child with congenital non-syndromic sensorineural loss of hearing having hereditary etiology and attributable to autosomal-recessive 35 delG mutation in locus DFNB1 (13q.11-q12) of GJB2 (connexin 26) gene.

  2. Pitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia

    OpenAIRE

    Kolahdouz, Mahsa; Mohammadi, Zahra; Kolahdouz, Parisa; Tajamolian, Masoud; Khanahmad, Hossein

    2015-01-01

    Congenital adrenal hyperplasia (CAH) is a putative error of metabolism with autosomal recessive heredity pattern. The main manifestations of classic form of CAH are salt-wasting, dehydration and simple virilization in both sexes and ambiguous genitalia in female gender. 21-hyroxylase (CYP21A2) impairment with prevalence value of 1 in 10,000?15,000 live births is the most common etiology of CAH. Because of consanguineous marriages, the frequency of the CAH in Iran is very high. A wide range of...

  3. Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4 phenotype

    Directory of Open Access Journals (Sweden)

    Fernandez Bridget A

    2012-11-01

    Full Text Available Abstract Background Severe congenital neutropenia type 4 (SCN4 is an autosomal recessive disorder caused by mutations in the third subunit of the enzyme glucose-6-phosphatase (G6PC3. Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4 is caused by autosomal recessive mutations in SLC45A2. Methods We report a sister and brother from Newfoundland, Canada with complex phenotypes. The sister was previously reported by Cullinane et al., 2011. We performed homozygosity mapping, next generation sequencing and conventional Sanger sequencing to identify mutations that cause the phenotype in this family. We have also summarized clinical data from 49 previously reported SCN4 cases with overlapping phenotypes and interpret the medical histories of these siblings in the context of the literature. Results The siblings’ phenotype is due in part to a homozygous mutation in G6PC3, [c.829C > T, p.Gln277X]. Their ages are 38 and 37 years respectively and they are the oldest SCN4 patients published to date. Both presented with congenital neutropenia and later developed Crohn disease. We suggest that the latter is a previously unrecognized SCN4 manifestation and that not all affected individuals have an intellectual disability. The sister also has a homozygous mutation in SLC45A2, which explains her severe oculocutaneous hypopigmentation. Her brother carried one SLC45A2 mutation and was diagnosed with “partial OCA” in childhood. Conclusions This family highlights that apparently novel syndromes can in fact be caused by two known autosomal recessive disorders.

  4. Congenital insensitivity to pain: Case report of a rare entity

    Directory of Open Access Journals (Sweden)

    Swati Dahiya

    2018-01-01

    Full Text Available Hereditary sensory and autonomic neuropathies (HSANs are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves. Five types of HSAN have been reported in literature, out of which Type V known as congenital insensitivity to pain (CIP is a rare autosomal recessive condition. Self-mutilation is an invariable feature of this disorder, involving the teeth and orofacial structures. This case report describes a case of a 6-year-old girl with CIP brought by her parents for prostheses to replace her self-extracted primary teeth.

  5. Mal de meleda with congenital cataract: A novel case report

    Directory of Open Access Journals (Sweden)

    Anisha Sethi

    2015-01-01

    Full Text Available Mal de meleda (MdM, a rare autosomal recessive genodermatosis is characterized by erythema and hyperkeratosis of the palms and soles with a sharp demarcation and that progress with age (progrediens and extend to the dorsal aspects of the hands and feet (transgrediens. It has been associated with various conditions albeit rarely with congenial cataract. Ocular lens and the skin have the same embryological origins. We hereby present this novel case report of Mal de meleda in association with congenital posterior subcapsular cataract which to the best of our knowledge has not been reported from India before.

  6. Comèl-Netherton syndrome – case report

    Directory of Open Access Journals (Sweden)

    Izabela Błażewicz

    2014-11-01

    Full Text Available Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encodes the serine protease inhibitor LEKTI. Objective. We present diagnostic and therapeutic difficulties in a patient with Comèl-Netherton syndrome. Case report. We present the case of a 3-year-old boy, in whom from the first day of life generalized ichthyosiform erythroderma and diffuse exfoliation of the skin were observed. The differential diagnosis included Omenn syndrome, and atopic and seborrheic dermatitis. Finally, based on the overall clinical picture and microscopic examination of the hair, which showed the presence of bamboo hair, Comèl-Netherton syndrome was diagnosed. Conclusions . Because of similarity to other erythroderma, diagnosis of Comèl-Netherton syndrome in the first months of life creates diagnostic problems. In older children, recurrent skin infections and atopic diathesis can cause therapeutic difficulties and require the cooperation of many specialists.

  7. Congenital nephrogenic diabetes insipidus: the current state of affairs.

    Science.gov (United States)

    Wesche, Daniel; Deen, Peter M T; Knoers, Nine V A M

    2012-12-01

    The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia or hypernatremia, and regulates water reabsorption in the renal collecting duct principal cells. Binding of AVP to the arginine vasopressin receptor type 2 (AVPR2) in the basolateral membrane leads to translocation of aquaporin 2 (AQP2) water channels to the apical membrane of the collecting duct principal cells, inducing water permeability of the membrane. This results in water reabsorption from the pro-urine into the medullary interstitium following an osmotic gradient. Congenital nephrogenic diabetes insipidus (NDI) is a disorder associated with mutations in either the AVPR2 or AQP2 gene, causing the inability of patients to concentrate their pro-urine, which leads to a high risk of dehydration. This review focuses on the current knowledge regarding the cell biological aspects of congenital X-linked, autosomal-recessive and autosomal-dominant NDI while specifically addressing the latest developments in the field. Based on deepened mechanistic understanding, new therapeutic strategies are currently being explored, which we also discuss here.

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

    Science.gov (United States)

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

    2015-01-01

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

  9. [Congenital nephrogenic diabetes insipidus: about a case report].

    Science.gov (United States)

    Esselmani, Hicham; Yassine, Asmaa; Bouabdellah, Mounya; Benchekroun, Laila; Handor, Najat; Elalami, Sanae; Chabraoui, Layachi

    2013-01-01

    Congenital nephrogenic diabetes insipidus is a rare, hereditary in nature, characterized by an inability of the kidney to concentrate urine, secondary to the manifold resistance to the action of vasopressin. X-linked forms of transmission (90%) are expressed in boys, from the neonatal period in general, by polyuria and polydipsia. Symptomatology in transmissive girls is variable but can sometimes be quite marked. These forms are secondary to mutations in the gene encoding the vasopressin V2 receptor, located at position Xq28, responsible for a loss of function of this receptor. Some of these mutations may cause a partial phenotype, less severe. Forms of autosomal, recessive or dominant are more rare (10%). Treatment is symptomatic, sometimes difficult in infants. It aims to avoid episodes of dehydration. It is based on a conventional diet hypo-osmotic and administration of hydrochlorothiazide and indomethacin. We report here the case of a child with congenital nephrogenic diabetes insipidus hospitalized at Children's Hospital of Rabat and throughout this case we review the pathophysiology and clinical and biological characteristics of the disease and including importance of contribution of clinical biochemistry laboratory in the diagnosis and monitoring of this disease.

  10. Barriers for recess physical activity

    DEFF Research Database (Denmark)

    Pawlowski, Charlotte Skau; Tjørnhøj-Thomsen, Tine; Schipperijn, Jasper

    2014-01-01

    BACKGROUND: Many children, in particular girls, do not reach the recommended amount of daily physical activity. School recess provides an opportunity for both boys and girls to be physically active, but barriers to recess physical activity are not well understood. This study explores gender...... differences in children's perceptions of barriers to recess physical activity. Based on the socio-ecological model four types of environmental barriers were distinguished: natural, social, physical and organizational environment. METHODS: Data were collected through 17 focus groups (at 17 different schools...... this study, we recommend promoting recess physical activity through a combination of actions, addressing barriers within the natural, social, physical and organizational environment....

  11. Autosomal recessive ichthyosis with limb reduction defect: A simple ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2015-10-01

    Oct 1, 2015 ... Our patient is a 13 year old girl, the first in birth order of first cousin parents, (Fig. 1). She was born at term by cesarean sec- tion of uncomplicated pregnancy. The patient was born in a yellow, tight and shiny sheath that started to desquamate after two to three weeks and replaced by rounded dark scaly ...

  12. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

    Directory of Open Access Journals (Sweden)

    Dirk J Lefeber

    2011-12-01

    Full Text Available Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years with a predominant presentation of dilated cardiomyopathy (DCM. Metabolic investigations showed deficient protein N-glycosylation, leading to a diagnosis of Congenital Disorders of Glycosylation (CDG. Homozygosity mapping in the consanguineous families showed a locus with two known genes in the N-glycosylation pathway. In all individuals, pathogenic mutations were identified in DOLK, encoding the dolichol kinase responsible for formation of dolichol-phosphate. Enzyme analysis in patients' fibroblasts confirmed a dolichol kinase deficiency in all families. In comparison with the generally multisystem presentation in CDG, the nonsyndromic DCM in several individuals was remarkable. Investigation of other dolichol-phosphate dependent glycosylation pathways in biopsied heart tissue indicated reduced O-mannosylation of alpha-dystroglycan with concomitant functional loss of its laminin-binding capacity, which has been linked to DCM. We thus identified a combined deficiency of protein N-glycosylation and alpha-dystroglycan O-mannosylation in patients with nonsyndromic DCM due to autosomal recessive DOLK mutations.

  13. Chanarin Dorfman Syndrome: A Case Report

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    Yasemin Ozkale

    2015-09-01

    Full Text Available Chanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings. [Cukurova Med J 2015; 40(3.000: 614-618

  14. [Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].

    Science.gov (United States)

    Morin, Denis

    2014-12-01

    Congenital nephrogenic diabetes insipidus is a rare hereditary disease with mainly an X-linked inheritance (90% of the cases) but there are also autosomal recessive and dominant forms. Congenital nephrogenic diabetes insipidus is characterized by a resistance of the renal collecting duct to the action of the arginine vasopressin hormone responsible for the inability of the kidney to concentrate urine. The X-linked form is due to inactivating mutations of the vasopressin 2 receptor gene leading to a loss of function of the mutated receptors. Affected males are often symptomatic in the neonatal period with a lack of weight gain, dehydration and hypernatremia but mild phenotypes may also occur. Females carrying the mutation may be asymptomatic but, sometimes, severe polyuria is found due to the random X chromosome inactivation. The autosomal recessive and dominant forms, occurring in both genders, are linked to mutations in the aquaporin-2 gene. The treatment remains difficult, especially in infants, and is based on a low osmotic diet with increased water intake and the use of thiazides and indomethacin. The main goal is to avoid hypernatremic episodes and maintain a good hydration state. Potentially, specific treatment, in some cases of X-linked congenital nephrogenic diabetes insipidus, with pharmacological chaperones such as non-peptide vasopressin-2 receptor antagonists will be available in the future. Conversely, the nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is linked to a constitutive activation of the V(2)-receptor due to activating mutations with clinical and biological features of inappropriate antidiuresis but with low or undetectable plasma arginine vasopressin hormone levels. Copyright © 2014 Association Société de néphrologie. Published by Elsevier SAS. All rights reserved.

  15. The Great Recession was not so Great

    NARCIS (Netherlands)

    van Ours, J.C.

    2015-01-01

    The Great Recession is characterized by a GDP-decline that was unprecedented in the past decades. This paper discusses the implications of the Great Recession analyzing labor market data from 20 OECD countries. Comparing the Great Recession with the 1980s recession it is concluded that there is a

  16. Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome

    Directory of Open Access Journals (Sweden)

    Abramowicz Marc

    2008-10-01

    Full Text Available Abstract Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican have been reported. More than 50% of the reported cases have been associated with parental consanguinity. The ocular manifestations in Harboyan syndrome include diffuse bilateral corneal edema occurring with severe corneal clouding, blurred vision, visual loss and nystagmus. They are apparent at birth or within the neonatal period and are indistinguishable from those characteristic of the autosomal recessive CHED (CHED2. Hearing deficit in Harboyan is slowly progressive and typically found in patients 10–25 years old. There are no reported cases with prelinglual deafness, however, a significant hearing loss in children as young as 4 years old has been detected by audiometry, suggesting that hearing may be affected earlier, even at birth. Harboyan syndrome is caused by mutations in the SLC4A11 gene located at the CHED2 locus on chromosome 20p13-p12, indicating that CHED2 and Harboyan syndrome are allelic disorders. A total of 62 different SLC4A11 mutations have been reported in 98 families (92 CHED2 and 6 Harboyan. All reported cases have been consistent with autosomal recessive transmission. Diagnosis is based on clinical criteria, detailed ophthalmological assessment and audiometry. A molecular confirmation of the clinical diagnosis is feasible. A variety of genetic, metabolic, developmental and acquired diseases presenting with clouding of the cornea should be considered in the differential diagnosis (Peters anomaly, sclerocornea, limbal dermoids, congenital glaucoma. Audiometry must be performed to differentiate Harboyan syndrome from CHED2. Autosomal recessive types of CHED (CHED2 and

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

    OpenAIRE

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

    2014-01-01

    International audience; Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding protein in the ON-bipolar cell signaling cascade remains to be elucidated. Here we genetically and functionally characterize a commercially available Lrit3 knockout mouse, a model to study the function and the pathogenic mechanism of LRIT3. We confi...

  18. Congenital insensitivity to pain and anhidrosis: A case report from South India

    Directory of Open Access Journals (Sweden)

    Carounanidy Udayashankar

    2012-01-01

    Full Text Available Congenital insensitivity to pain with anhidrosis, also known as hereditary sensory and autonomic neuropathy type IV, is an autosomal recessive disorder characterized by the congenital lack of pain sensation, inability to sweat, episodes of recurrent hyperpyrexia, mental retardation, and self-mutilating behavior. It is an extremely rare disorder with only a handful of reports from India. A five- year- old boy, born to second-degree consanguineous parents after uneventful antenatal period, presented to us with history of recurrent unexplained fever, recurrent ulcers in the lower limbs, insensitivity to painful stimuli (like injections, vaccination and self-mutilating behavior from early childhood. Cutaneous examination showed multiple ulcers, loss of teeth, loss of tip of the tongue (due to biting, scarring of finger tips, xerosis and lichenification. Sensory examination showed complete loss of pain and temperature sensations, but fine touch and vibration were preserved. Deep tendon reflexes were normal. Evaluation for Hansen′s disease was non-contributory. An intradermal injection of histamine did not show any flare response. Based on clinical as well as compatible histological features a diagnosis of congenital insensitivity to pain with anhidrosis was made. The ulcers were treated with appropriate antibiotics and daily dressings. The parents were counseled about appropriate care of the child.

  19. 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.

  20. Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

    Science.gov (United States)

    Cohen, J; Schanen, N C

    2000-01-01

    The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

  1. Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.

    Directory of Open Access Journals (Sweden)

    J Pedro Fernández-Murray

    2016-01-01

    Full Text Available Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors. A common subtype of congenital sideroblastic anemia is due to autosomal recessive mutations in the SLC25A38 gene. The current treatment for SLC25A38 congenital sideroblastic anemia is chronic blood transfusion coupled with iron chelation. The function of SLC25A38 is not known. Here we report that the SLC25A38 protein, and its yeast homolog Hem25, are mitochondrial glycine transporters required for the initiation of heme synthesis. To do so, we took advantage of the fact that mitochondrial glycine has several roles beyond the synthesis of heme, including the synthesis of folate derivatives through the glycine cleavage system. The data were consistent with Hem25 not being the sole mitochondrial glycine importer, and we identify a second SLC25 family member Ymc1, as a potential secondary mitochondrial glycine importer. Based on these findings, we observed that high levels of exogenous glycine, or 5-aminolevulinic acid (5-Ala a metabolite downstream of Hem25 in heme biosynthetic pathway, were able to restore heme levels to normal in yeast cells lacking Hem25 function. While neither glycine nor 5-Ala could ameliorate SLC25A38 congenital sideroblastic anemia in a zebrafish model, we determined that the addition of folate with glycine was able to restore hemoglobin levels. This difference is likely due to the fact that yeast can synthesize folate, whereas in zebrafish folate is an essential vitamin that must be obtained exogenously. Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia.

  2. Residual symptoms after surgery for unilateral congenital superior oblique palsy.

    Science.gov (United States)

    Caca, Ihsan; Sahin, Alparslan; Cingu, Abdullah; Ari, Seyhmus; Akbas, Umut

    2012-01-01

    To establish the surgical results and residual symptoms in 48 cases with unilateral congenital superior oblique muscle palsy that had surgical intervention to the vertical muscles alone. Myectomy and concomitant disinsertion of the inferior oblique (IO) muscle was performed in 38 cases and myectomy and concomitant IO disinsertion and recession of the superior rectus muscle in the ipsilateral eye was performed in 10 cases. The preoperative and postoperative vertical deviation values and surgical results were compared. Of the patients who had myectomy and concomitant IO disinsertion, 74% achieved an "excellent" result, 21% a "good" result, and 5% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Of the patients who had myectomy and concomitant inferior oblique disinsertion and ipsilateral superior rectus recession, 50% achieved an "excellent" result, 20% a "good" result, and 30% a "poor" result postoperatively. The difference in deviation between preoperative and postoperative values was statistically significant (P < .001). Both procedures are effective and successful in patients with superior oblique muscle palsy, but a secondary surgery may be required. Copyright 2012, SLACK Incorporated.

  3. Risk factors predisposing to congenital heart defects

    International Nuclear Information System (INIS)

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

  4. Leydig Cell Tumor Associated with Testicular Adrenal Rest Tumors in a Patient with Congenital Adrenal Hyperplasia due to 11β-Hydroxylase Deficiency

    OpenAIRE

    Charfi, Nadia; Kamoun, Mahdi; Feki Mnif, Mouna; Mseddi, Neila; Mnif, Fatma; Kallel, Nozha; Ben Naceur, Basma; Rekik, Nabila; Fourati, Hela; Daoud, Emna; Mnif, Zainab; Hadj Sliman, Mourad; Sellami-Boudawara, Tahia; Abid, Mohamed

    2012-01-01

    Congenital adrenal hyperplasia (CAH) describes a group of inherited autosomal recessive disorders characterized by enzyme defects in the steroidogenic pathways that lead to the biosynthesis of cortisol, aldosterone, and androgens. Chronic excessive adrenocorticotropic hormone (ACTH) stimulation may result in hyperplasia of ACTH-sensitive tissues in adrenal glands and other sites such as the testes, causing testicular masses known as testicular adrenal rest tumors (TARTs). Leydig cell tumors (...

  5. CT evaluation of the anterior epitympanic recess

    International Nuclear Information System (INIS)

    Yamasoba, Tatsuya; Kikuchi, Shigeru; Takeuchi, Naonobu; Harada, Takehiko; Nomura, Yasuya

    1991-01-01

    The structures of the anterior epitympanic recess and its surrounding tissues were examined among non-inflammatory ear, chronic otitis media with central perforation and cholesteatoma, using axial scans of high resolution computed tomography. The length and width of the recess, as well as the number of the slices where the cog was determined, had no significant differences among them. Thus, the bony structure of the recess was considered to be seldom influenced by inflammatory processes. In the non-inflammatory ear, the degree of pneumatization around the recess was similar to that of the petrous apex cells and lower than that of the mastoid cells. In the chronic otitis media with central perforation and cholesteatoma, the pneumatization of the whole temporal bones was suppressed and the tendency was also found that the cells around the recess were less pneumatized than the mastoid cells. When cholesteatoma invaded into the anterior epitympanic recess, the destruction of the bony protrusion of the lateral wall between the recess and the epitympanum was recognized, as well as the disappearance of the cog. The bony protrusion was considered to be an inferior extention of the cog toward the anterior tympanic spine. (author)

  6. Cerebellar and cerebral atrophy in trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Hye-Kyung; Sargent, Michael A.; Poskitt, Kenneth J. [British Columbia Children' s Hospital, Department of Radiology, Vancouver, BC (Canada); Prendiville, Julie S. [British Columbia Children' s Hospital, Division of Paediatric Dermatology, Department of Paediatrics, Vancouver, BC (Canada)

    2005-10-01

    Trichothiodystrophy is a rare neuroectodermal disorder of autosomal recessive inheritance that is characterized by brittle hair, nail dysplasia, ichthyosis, mental retardation, and gonadal failure. We describe a female patient whose cranial MRI revealed almost total lack of myelination in the supratentorial white matter, which is similar to the previously described cases. In addition, there was progressive cerebellar and cerebral atrophy, which has not been well documented in association with trichothiodystrophy. (orig.)

  7. Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination.

    Science.gov (United States)

    Hussain, Shabbir

    2016-05-01

    Neonatal Bartter syndrome (NBS) is an autosomal recessive renal tubulopathy characterized by hypokalaemic, hypochloraemic metabolic alkalosis associated with increased urinary loss of sodium, potassium, calcium and chloride. There is hyperreninaemia and hyperaldosteronaemia but normotension. Congenital adrenal hyperplasia (CAH), another autosomal recessive condition, may present in the neonatal period with vomiting, hypovolaemia, failure to gain weight or ambiguous genitalia. We report a case of NBS and CAH combination in a neonate. A male neonate born at term was admitted with history of recurrent vomiting and dehydration episodes. Investigations revealed electrolytes imbalance, metabolic alkalosis, raised aldosterone and renin levels suggestive of NBS. He was treated successfully and discharged. He was re-admitted with the same symptoms. Further evaluation confirmed the presence of CAH as well. We report this case because of the rarity of this combination (NBS plus CAH) and to the best of our knowledge this is the first such case report from Pakistan.

  8. PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides

    Science.gov (United States)

    Grond, Susanne; Eichmann, Thomas O.; Dubrac, Sandrine; Kolb, Dagmar; Schmuth, Matthias; Fischer, Judith; Crumrine, Debra; Elias, Peter M.; Haemmerle, Guenter; Zechner, Rudolf; Lass, Achim; Radner, Franz P.W.

    2017-01-01

    Mutations in PNPLA1 have been identified as causative for autosomal recessive congenital ichthyosis in humans and dogs. So far, the underlying molecular mechanisms are unknown. In this study, we generated and characterized PNPLA1-deficient mice and found that PNPLA1 is crucial for epidermal sphingolipid synthesis. The absence of functional PNPLA1 in mice impaired the formation of omega-O-acylceramides and led to an accumulation of nonesterified omega-hydroxy-ceramides. As a consequence, PNPLA1-deficient mice lacked a functional corneocyte-bound lipid envelope leading to a severe skin barrier defect and premature death of newborn animals. Functional analyses of differentiated keratinocytes from a patient with mutated PNPLA1 demonstrated an identical defect in omega-O-acylceramide synthesis in human cells, indicating that PNPLA1 function is conserved among mammals and indispensable for normal skin physiology. Notably, topical application of epidermal lipids from wild-type onto Pnpla1-mutant mice promoted rebuilding of the corneocyte-bound lipid envelope, indicating that supplementation of ichthyotic skin with omega-O-acylceramides might be a therapeutic approach for the treatment of skin symptoms in individuals affected by omega-O-acylceramide deficiency. PMID:27751867

  9. Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency

    NARCIS (Netherlands)

    Y. Indo (Yasuhiro); S. Mardy (Sek); Y. Miura (Yuichi); A. Moosa (Allie); E.A.R. Ismail (Essam A.); E. Toscano (Ennio); G. Andria (Generoso); V. Pavone (Vito); D.L. Brown (Deborah); A.S. Brooks (Alice); F. Endo (Fumio); I. Matsuda (Ichiro)

    2001-01-01

    textabstractCongenital insensitivity to pain with anhidrosis is an autosomal recessive hereditary disorder characterized by recurrent episodic fever, anhidrosis (inability to sweat), absence of reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The human TRKA gene

  10. Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

    Directory of Open Access Journals (Sweden)

    Carsten Bergmann

    2018-02-01

    Full Text Available Autosomal recessive polycystic kidney disease (ARPKD is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal hypertension in some patients. Mutations in the PKHD1 gene are the primary cause of ARPKD; however, the disease is genetically not as homogeneous as long thought and mutations in several other cystogenes can phenocopy ARPKD. The family history usually is negative, both for recessive, but also often for dominant disease genes due to de novo arisen mutations or recessive inheritance of variants in genes that usually follow dominant patterns such as the main ADPKD genes PKD1 and PKD2. Considerable progress has been made in the understanding of polycystic kidney disease (PKD. A reduced dosage of disease proteins leads to the disruption of signaling pathways underlying key mechanisms involved in cellular homeostasis, which may help to explain the accelerated and severe clinical progression of disease course in some PKD patients. A comprehensive knowledge of disease-causing genes is essential for counseling and to avoid genetic misdiagnosis, which is particularly important in the prenatal setting (e.g., preimplantation genetic diagnosis/PGD. For ARPKD, there is a strong demand for early and reliable prenatal diagnosis, which is only feasible by molecular genetic analysis. A clear genetic diagnosis is helpful for many families and improves the clinical management of patients. Unnecessary and invasive measures can be avoided and renal and extrarenal comorbidities early be detected in the clinical course. The increasing number of genes that have to be considered benefit from the advances of next-generation sequencing (NGS which allows simultaneous analysis of a large group of genes in a single test at relatively low cost and has become the mainstay for genetic diagnosis. The broad phenotypic and genetic

  11. Congenital adrenal hyperplasia: Treatment and outcomes

    Directory of Open Access Journals (Sweden)

    Mahdi Kamoun

    2013-01-01

    Full Text Available Congenital adrenal hyperplasia (CAH describes a group of autosomal recessive disorders where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency accounts for 95% of cases and shows a wide range of clinical severity. Glucocorticoid and mineralocorticoid replacement therapies are the mainstays of treatment of CAH. The optimal treatment for adults with CAH continues to be a challenge. Important long-term health issues for adults with CAH affect both men and women. These issues may either be due to the disease or to steroid treatment and may affect final height, fertility, cardiometabolic risk, bone metabolism, neuro-cognitive development and the quality-of-life. Patients with CAH should be regularly followed-up from childhood to adulthood by multidisciplinary teams who have knowledge of CAH. Optimal replacement therapy, close clinical and laboratory monitoring, early life-style interventions, early and regular fertility assessment and continuous psychological management are needed to improve outcome.

  12. Differences in Physical Activity during School Recess

    Science.gov (United States)

    Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer

    2011-01-01

    Background: School recess provides a daily opportunity for physical activity engagement. The purpose of this study was to examine physical activity levels during recess by gender, ethnicity, and grade, and establish the contribution of recess to daily school physical activity levels. Methods: Two hundred and ten children (45% boys) from grades 3…

  13. Loss of col8a1a Function during Zebrafish Embryogenesis Results in Congenital Vertebral Malformations

    Science.gov (United States)

    Gray, Ryan S.; Wilm, Thomas; Smith, Jeff; Bagnat, Michel; Dale, Rodney M.; Topczewski, Jacek; Johnson, Stephen L.; Solnica-Krezel, Lilianna

    2014-01-01

    Congenital vertebral malformations (CVM) occur in 1 in 1,000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles (m531, vu41, vu105) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue. PMID:24333517

  14. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. 1984.

    Science.gov (United States)

    Neri, Giovanni; Martini-Neri, Maria Enrica; Katz, Ben E; Opitz, John M

    2013-11-01

    The ensuing paper by Professor Giovanni Neri and colleagues was originally published in 1984, American Journal of Medical Genetics 19:195–207. The original article described a new family with a condition that the authors designated as the Perlman syndrome. This disorder, while uncommon, is an important multiple congenital anomaly and dysplasia syndrome; the causative gene was recently identified. This paper is a seminal work and is graciously republished by Wiley-Blackwell in the Special Festschrift issue honoring Professor Neri. We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al. [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed. © 2013 Wiley Periodicals, Inc.

  15. Modified adjustable suture hang-back recession: Description of technique and comparison with conventional adjustable hang-back recession

    Directory of Open Access Journals (Sweden)

    Siddharth Agrawal

    2017-01-01

    Full Text Available Purpose: This study aims to describe and compare modified hang-back recession with the conventional hang-back recession in large angle comitant exotropia (XT. Methods: A prospective, interventional, double-blinded, randomized study on adult patients (>18 years undergoing single eye recession-resection for large angle (>30 prism diopters constant comitant XT was conducted between January 2011 and December 2015. Patients in Group A underwent modified hang-back lateral rectus recession with adjustable knot while in Group B underwent conventional hang-back recession with an adjustable knot. Outcome parameters studied were readjustment rate, change in deviation at 6 weeks, complications and need for resurgery at 6 months. Results: The groups were comparable in terms of age and preoperative deviation. The patients with the modified hang back (Group A fared significantly better (P < 0.05 than those with conventional hang back (Group B in terms of lesser need for adjustment, greater correction in deviation at 6 weeks and lesser need for resurgery at 6 months. Conclusion: This modification offers several advantages, significantly reduces resurgery requirement and has no added complications.

  16. Congenital muscular dystrophies--problems of classification.

    Science.gov (United States)

    Lenard, H G

    1991-04-01

    The classification of congenital muscular dystrophies (CMD), based on perceived clinical and morphological similarities or differences, is controversial. CMD without cerebral involvement has sometimes been divided into a mild and a severe form. This distinction is, however, arbitrary and not uncontested. Whether Ullrich's disease, formerly called atonic-sclerotic dystrophy, is a disease entity and if so, whether it is a primary muscle disorder, is uncertain. CMD without cerebral involvement is inherited in an autosomal recessive fashion in the great majority of cases. CMDs with cerebral involvement are usually classified into at least three forms: the Fukuyama type of CMD, occurring almost exclusively in Japanese patients; CMD with hypomyelination, sometimes also called the occidental type of cerebromuscular dystrophy; and Walker-Warburg syndrome. Muscle-eye-brain disease, described in a number of Finnish patients, may or may not belong in this last category. In CMD with cerebral involvement inheritance is also autosomal recessive. It is possible that single sporadic cases are phenocopies due to infectious or other exogenous causes. Reports of clinical and morphological findings from an increasing number of patients show a high degree of variability within and, on the other hand, certain similarities between the forms of CMD with cerebral involvement. In addition, neuroradiological changes are also found with increasing frequency in CMD patients without clinical neuropsychological abnormalities. It is not unreasonable to speculate that molecular genetic techniques will reveal in the near future a variable defect in one gene locus or defects in a few gene loci as the cause of the various clinical forms of CMDs.

  17. Gingival recession: a cross-sectional clinical investigation.

    Science.gov (United States)

    Goutoudi, P; Koidis, P T; Konstantinidis, A

    1997-06-01

    In this cross-sectional study, risk and potentially causative factors of gingival recession were examined and their relationship to apical migration of the gingival margin evaluated. Thirty eight patients (18-60 years), displaying one or more sites with gingival recession but without any significant periodontal disease participated. A total of 28 parameters were evaluated in both 'test' teeth (50 teeth with gingival recession) and 'control' teeth (50 contralateral teeth). The results revealed that gingival margin recession was associated with both high inflammatory and plaque scores, with decreased widths of keratinized and attached gingiva and with the subjects' toothbrush bristle hardness.

  18. The role of imaging in congenital adrenal hyperplasia

    International Nuclear Information System (INIS)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge; Elias, Paula Condé Lamparelli

    2014-01-01

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  19. The role of imaging in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Teixeira, Sara Reis; Andrade, Marco Tulio Soares; Melo, Andrea Farias; Elias Junior, Jorge, E-mail: jejunior@fmrp.usp.br [Department of Internal Medicine, Division of Radiology, Clinical Hospital, Ribeirao Preto Medical School, University of Sao Paulo (FMRP-USP), Ribeirao Preto, SP (Brazil); Elias, Paula Condé Lamparelli [Department of Internal Medicine, Division of Endocrinology, Clinical Hospital, FMRP-USP, Ribeirao Preto, SP (Brazil)

    2014-10-15

    Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging. (author)

  20. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

    Science.gov (United States)

    Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit

    2014-12-01

    Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.

  1. Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

    Science.gov (United States)

    van der Ven, Amelie T; Vivante, Asaf; Hildebrandt, Friedhelm

    2018-01-01

    Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients. However, hundreds of different monogenic CAKUT genes probably exist. The discovery of novel CAKUT-causing genes remains challenging because of this pronounced heterogeneity, variable expressivity, and incomplete penetrance. We here give an overview of known genetic causes for human CAKUT and shed light on distinct renal morphogenetic pathways that were identified as relevant for CAKUT in mice and humans. Copyright © 2018 by the American Society of Nephrology.

  2. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Xiaodong Jiao

    Full Text Available This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10. We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15, and expression remained relatively steady throughout development.Here, we

  3. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

    Science.gov (United States)

    Bichet, Daniel G; Bockenhauer, Detlef

    2016-03-01

    Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have mutations in the vasopressin V2 receptor (AVPR2) gene encoding the vasopressin V2 receptor. In less than 10% of the families studied, congenital NDI has an autosomal recessive or autosomal dominant mode of inheritance with mutations in the aquaporin-2 (AQP2) gene. When studied in vitro, most AVPR2 and AQP2 mutations lead to proteins trapped in the endoplasmic reticulum and are unable to reach the plasma membrane. Prior knowledge of AVPR2 or AQP2 mutations in NDI families and perinatal mutation testing is of direct clinical value and can avert the physical and mental retardation associated with repeated episodes of dehydration. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. HYDRORECESSION: A toolbox for streamflow recession analysis

    Science.gov (United States)

    Arciniega, S.

    2015-12-01

    Streamflow recession curves are hydrological signatures allowing to study the relationship between groundwater storage and baseflow and/or low flows at the catchment scale. Recent studies have showed that streamflow recession analysis can be quite sensitive to the combination of different models, extraction techniques and parameter estimation methods. In order to better characterize streamflow recession curves, new methodologies combining multiple approaches have been recommended. The HYDRORECESSION toolbox, presented here, is a Matlab graphical user interface developed to analyse streamflow recession time series with the support of different tools allowing to parameterize linear and nonlinear storage-outflow relationships through four of the most useful recession models (Maillet, Boussinesq, Coutagne and Wittenberg). The toolbox includes four parameter-fitting techniques (linear regression, lower envelope, data binning and mean squared error) and three different methods to extract hydrograph recessions segments (Vogel, Brutsaert and Aksoy). In addition, the toolbox has a module that separates the baseflow component from the observed hydrograph using the inverse reservoir algorithm. Potential applications provided by HYDRORECESSION include model parameter analysis, hydrological regionalization and classification, baseflow index estimates, catchment-scale recharge and low-flows modelling, among others. HYDRORECESSION is freely available for non-commercial and academic purposes.

  5. Performance Analysis of High-Speed Deep/Shallow Recessed Hybrid Bearing

    Directory of Open Access Journals (Sweden)

    Lei Wang

    2013-01-01

    Full Text Available The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and width of shallow recess. The results indicate that the load capacity, drag torque increases as the depth of shallow recess is shallower and the width ratio (half angle of deep recess versus half angle of shallow recess is smaller. In contrast, the flow rate decreases as the depth of shallow recess is shallower and the width ratio is smaller. Nevertheless, the appropriate design of the depth and width of shallow recess might well induce the performance of high-speed deep/shallow recessed hybrid bearing.

  6. Prognostic Indicators of Gingival Recession in Nigeria: Preliminary Findings

    Directory of Open Access Journals (Sweden)

    Michael Adedigba

    2010-06-01

    Full Text Available AIM: Literature is replete with studies on gingival recession, the apical shift of the gingival margin from the cemento-enamel junction. Chronic periodontitis and frequent toothbrushing are among its aetiological factors. Many of these were however prevalence studies. The current study was therefore aimed at separating prognostic indicators from determinants of the number of recessions. METHOD: 650 consecutive adult patients visiting a Nigerian teaching hospital were examined using a checklist including plaque, calculus, Miller’s class of recession and other parameters.. A total of 408 recession sites were identified. RESULTS: The mean age of the patients with recession was 42.3 years; mean number of recession was 4.74 Incisors had the highest number of recessions (35.7%. While a factor such as age was related both to the number and prognosis of recession sites, abrasion and plaque were only related to prognosis. Again, some of the factors previously significantly related to prognosis on univariate analysis like calculus and smoking, lost their significance on regression analysis. CONCLUSION: The three strongest predictors of prognosis (Miller’s class of recession were age, plaque and abrasion. [TAF Prev Med Bull 2010; 9(3.000: 187-194

  7. The Great Recession and America's Geography of Unemployment.

    Science.gov (United States)

    Thiede, Brian C; Monnat, Shannon M

    The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession-related increases in unemployment.

  8. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.

    Science.gov (United States)

    Gordon, Marilyn M; Brada, Nancy; Remacha, Angel; Badell, Isabel; del Río, Elisabeth; Baiget, Montserrat; Santer, René; Quadros, Edward V; Rothenberg, Sheldon P; Alpers, David H

    2004-01-01

    Congenital intrinsic factor (IF) deficiency is a disorder characterized by megaloblastic anemia due to the absence of gastric IF (GIF, GenBank NM_005142) and GIF antibodies, with probable autosomal recessive inheritance. Most of the reported patients are isolated cases without genetic studies of the parents or siblings. Complete exonic sequences were determined from the PCR products generated from genomic DNA of five affected individuals. All probands had the identical variant (g.68A>G) in the second position of the fifth codon in the coding sequence of the gene that introduces a restriction enzyme site for Msp I and predicts a change in the mature protein from glutamine(5) (CAG) to arginine(5) (CGG). Three subjects were homozygous for this base exchange and two subjects were heterozygous, one of which was apparently a compound heterozygote at positions 1 and 2 of the fifth codon ([g.67C>G] + [g.68A>G]). The other patient, heterozygous for position 2, had one heterozygous unaffected parent. Most parents were heterozygous for this base exchange, confirming the pattern of autosomal recessive inheritance for congenital IF deficiency. cDNA encoding GIF was mutated at base pair g.68 (A>G) and expressed in COS-7 cells. The apparent size, secretion rate, and sensitivity to pepsin hydrolysis of the expressed IF were similar to native IF. The allelic frequency of g.68A>G was 0.067 and 0.038 in two control populations. This sequence aberration is not the cause of the phenotype, but is associated with the genotype of congenital IF deficiency and could serve as a marker for inheritance of this disorder. Copyright 2003 Wiley-Liss, Inc.

  9. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; 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. (orig.)

  10. The Great Recession and America's geography of unemployment

    Directory of Open Access Journals (Sweden)

    Brian Thiede

    2016-09-01

    Full Text Available Background: The Great Recession of 2007-2009 was the most severe and lengthy economic crisis in the US since the Great Depression of the 1930s. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective: To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods: We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results: The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions: The local consequences of macroeconomic trends are associated with county population characteristics, and the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state disparities in local labor market conditions. Contribution: To present new estimates of the recession's impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately

  11. Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.

    Science.gov (United States)

    Boria, F; Maseda, R; Martín-Cameán, M; De la Calle, M; de Lucas, R

    2017-12-01

    Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen, which leads to marked fragility of the skin and mucous membranes and subsequent blister formation, whether spontaneously or following minimal injury. There have been very few reports of this disease in pregnant women. We present 2 cases of pregnant women with recessive dystrophic epidermolysis bullosa managed in our High-Risk Pregnancy Unit at Hospital Universitario La Paz, Madrid, Spain. Both patients underwent full-term cesarean delivery, with no further complications for mother or child. Although recessive dystrophic epidermolysis bullosa increases the risk of maternal complications, a patient is not advised against pregnancy. With adequate monitoring, these patients can fulfil their desire to become mothers. Copyright © 2017 AEDV. Publicado por Elsevier España, S.L.U. All rights reserved.

  12. Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.

    Directory of Open Access Journals (Sweden)

    Lei Zhang

    Full Text Available Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin Ichthyosis. Characterization of smsk mutant skin showed that the delivery of glucosylceramides and CORNEODESMOSIN was defective, while ultrastructural analysis revealed abnormal lamellar bodies and the absence of lipid lamellae in smsk epidermis. Unexpectedly, mutant stratum corneum remained intact when subjected to harsh chemical dissociation procedures. Moreover, both KALLIKREIN 5 and -7 were drastically decreased, with retention of desmoplakin in mutant SC. In cultured wild type keratinocytes, both KALLIKREIN 5 and -7 colocalized with ceramide metabolites following calcium-induced differentiation. Reducing the intracellular levels of glucosylceramide with a glucosylceramide synthase inhibitor resulted in decreased secretion of KALLIKREIN proteases by wild type keratinocytes, but not by smsk mutant keratinocytes. Together, these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation. Smsk mutant mice recapitulate many of the pathological features of HI and can be used to explore novel topical therapies against a potentially lethal and debilitating neonatal disease.

  13. Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

    Science.gov (United States)

    Nicole, Sophie; Chaouch, Amina; Torbergsen, Torberg; Bauché, Stéphanie; de Bruyckere, Elodie; Fontenille, Marie-Joséphine; Horn, Morten A; van Ghelue, Marijke; Løseth, Sissel; Issop, Yasmin; Cox, Daniel; Müller, Juliane S; Evangelista, Teresinha; Stålberg, Erik; Ioos, Christine; Barois, Annie; Brochier, Guy; Sternberg, Damien; Fournier, Emmanuel; Hantaï, Daniel; Abicht, Angela; Dusl, Marina; Laval, Steven H; Griffin, Helen; Eymard, Bruno; Lochmüller, Hanns

    2014-09-01

    Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly homogenous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy reminiscent of a distal myopathy. MRI and neurophysiological studies were compatible with mild myopathy restricted to distal limb muscles, but decrement (up to 72%) in response to 3 Hz repetitive nerve stimulation pointed towards a neuromuscular transmission defect. Post-exercise increment (up to 285%) was observed in the distal limb muscles in all cases suggesting presynaptic congenital myasthenic syndrome. Immunofluorescence and ultrastructural analyses of muscle end-plate regions showed synaptic remodelling with denervation-reinnervation events. We performed whole-exome sequencing in two kinships and Sanger sequencing in one isolated case and identified five new recessive mutations in the gene encoding agrin. This synaptic proteoglycan with critical function at the neuromuscular junction was previously found mutated in more typical forms of congenital myasthenic syndrome. In our patients, we found two missense mutations residing in the N-terminal agrin domain, which reduced acetylcholine receptors clustering activity of agrin in vitro. Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an unexpected

  14. Bond return predictability in expansions and recessions

    DEFF Research Database (Denmark)

    Engsted, Tom; Møller, Stig Vinther; Jensen, Magnus David Sander

    We document that over the period 1953-2011 US bond returns are predictable in expansionary periods but unpredictable during recessions. This result holds in both in-sample and out-of-sample analyses and using both univariate regressions and combination forecasting techniques. A simulation study...... but negative in recessions. The results are also consistent with tests showing that the expectations hypothesis of the term structure holds in recessions but not in expansions. However, the results for bonds are in sharp contrast to results for stocks showing that stock returns are predictable in recessions...... but not in expansions. Thus, our results indicate that there is not a common predictive pattern of stock and bond returns associated with the state of the economy....

  15. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.

    Science.gov (United States)

    Bitner-Glindzicz, M; Lindley, K J; Rutland, P; Blaydon, D; Smith, V V; Milla, P J; Hussain, K; Furth-Lavi, J; Cosgrove, K E; Shepherd, R M; Barnes, P D; O'Brien, R E; Farndon, P A; Sowden, J; Liu, X Z; Scanlan, M J; Malcolm, S; Dunne, M J; Aynsley-Green, A; Glaser, B

    2000-09-01

    Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K + (KATP) channels), which may be mutated in patients with hyperinsulinism. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14-15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18. The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.

  16. 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.

  17. Gingival Recessions and Biomechanics

    DEFF Research Database (Denmark)

    Laursen, Morten Godtfredsen

    Gingival recessions and biomechanics “Tissue is the issue, but bone sets the tone.“ A tooth outside the cortical plate can result in loss of bone and development of a gingival recession. The presentation aims to show biomechanical considerations in relation to movement of teeth with gingival...... by moving the root back in the alveolus. The tooth movement is accompanied by bone gain and thus increase the success rate for soft tissue augmentation. The choice of biomechanical system influences the treatment outcome. If a standard straight wire appliance is used, a biomechanical dilemma can arise...

  18. American undergraduate students' value development during the Great Recession.

    Science.gov (United States)

    Park, Heejung; Twenge, Jean M; Greenfield, Patricia M

    2017-02-01

    The Great Recession's influence on American undergraduate students' values was examined, testing Greenfield's and Kasser's theories concerning value development during economic downturns. Study 1 utilised aggregate-level data to investigate (a) population-level value changes between the pre-recession (2004-2006: n = 824,603) and recession freshman cohort (2008-2010: n = 662,262) and (b) overall associations of population-level values with national economic climates over long-term periods by correlating unemployment rates and concurrent aggregate-level values across 1966-2015 (n = 10 million). Study 2 examined individual-level longitudinal value development from freshman to senior year, and whether the developmental trajectories differed between those who completed undergraduate education before the Great Recession (freshmen in 2002, n = 12,792) versus those who encountered the Great Recession during undergraduate years (freshmen in 2006, n = 13,358). Results suggest American undergraduate students' increased communitarianism (supporting Greenfield) and materialism (supporting Kasser) during the Great Recession. The recession also appears to have slowed university students' development of positive self-views. Results contribute to the limited literature on the Great Recession's influence on young people's values. They also offer theoretical and practical implications, as values of this privileged group of young adults are important shapers of societal values, decisions, and policies. © 2016 International Union of Psychological Science.

  19. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders.

    Science.gov (United States)

    Drury, Suzanne; Mason, Sarah; McKay, Fiona; Lo, Kitty; Boustred, Christopher; Jenkins, Lucy; Chitty, Lyn S

    2016-01-01

    Our UK National Health Service regional genetics laboratory offers NIPD for autosomal dominant and de novo conditions (achondroplasia, thanataphoric dysplasia, Apert syndrome), paternal mutation exclusion for cystic fibrosis and a range of bespoke tests. NIPD avoids the risks associated with invasive testing, making prenatal diagnosis more accessible to families at high genetic risk. However, the challenge remains in offering definitive diagnosis for autosomal recessive diseases, which is complicated by the predominance of the maternal mutant allele in the cell-free DNA sample and thus requires a variety of different approaches. Validation and diagnostic implementation for NIPD of congenital adrenal hyperplasia (CAH) is further complicated by presence of a pseudogene that requires a different approach. We have used an assay targeting approximately 6700 heterozygous SNPs around the CAH gene (CYP21A2) to construct the high-risk parental haplotypes and tested this approach in five cases, showing that inheritance of the parental alleles can be correctly identified using NIPD. We are evaluating various measures of the fetal fraction to help determine inheritance of parental mutations. We are currently exploring the utility of an NIPD multi-disorder panel for autosomal recessive disease, to make testing more widely applicable to families with a variety of serious genetic conditions.

  20. Bimedial faden recession versus augmented medial rectus recession in the treatment of high ac/a ratio partially accommodative esotropia with large distant near disparity

    Directory of Open Access Journals (Sweden)

    Mohammed F Farid

    2016-01-01

    Faden recession achieves marginal superior control of DND and high AC/A ratio in convergence excess partially accommodative ET. Augmented recession also works well with the possible development of consecutive exotropia in cases with extremely high DND. This study recommends Augmented recession for cases with mild to moderate DND and Faden recession for cases with extremely large DND.

  1. Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease.

    Science.gov (United States)

    Janecke, Andreas R; Heinz-Erian, Peter; Müller, Thomas

    2016-08-01

    Congenital diarrheal disorders (CDDs) represent a group of challenging clinical conditions for pediatricians because of the severity of the presentation and the broad range of possible differential diagnoses. CDDs arise from alterations in the transport of nutrients and electrolytes across the intestinal mucosa, from enterocyte and enteroendocrine cell differentiation and/or polarization defects, and from the modulation of the intestinal immune response. Advances were made recently in deciphering the etiology and pathophysiology of one of these disorders, congenital sodium diarrhea (CSD). CSD refers to an intractable diarrhea of intrauterine onset with high fecal sodium loss. CSD is clinically and genetically heterogeneous. A syndromic form of CSD features choanal and intestinal atresias as well as recurrent corneal erosions. Small bowel histology frequently detects an epithelial "tufting" dysplasia. It is autosomal recessively inherited, and caused by SPINT2 mutations. The nonsyndromic form of CSD can be caused by dominant activating mutations in GUCY2C, encoding intestinal receptor guanylate cyclase C (GC-C), and by autosomal recessive SLC9A3 loss-of-function mutations. SLC9A3 encodes Na/H antiporter 3, the major intestinal brush border Na/H exchanger, and a downstream target of GC-C. A number of patients with GUCY2C and SLC9A3 mutations developed inflammatory bowel disease. Both the number of recognized CDD forms as well as the number of underlying disease genes are gradually increasing. Knowledge of these CDD genes enables noninvasive, next-generation gene panel-based testing to facilitate an early diagnosis in CDD. Primary Na/H antiporter 3 and GC-C malfunction is implicated as a predisposition for inflammatory bowel disease in subset of patients.

  2. Congenital dilatation of the large and segmental intrahepatic bile ducts (Caroli's disease in two Golden retriever littermates : clinical communication

    Directory of Open Access Journals (Sweden)

    R.D. Last

    2006-06-01

    Full Text Available Two, sibling, male Golden retriever puppies, 13 weeks of age, were presented with congenital biliary cysts of the liver involving both hepatic and segmental bile ducts, as well as bilateral polycystic kidney disease. Ultrasonography of the livers of both pups demonstrated segmental cystic lesions that were contiguous with the bile ducts. Histopathology revealed cystic ectatic bile duct hyperplasia and dysplasia with variable portal fibrosis in the liver, while in the kidneys there were radially arranged, cylindrically dilated cysts of the collecting ducts, which extended through the medulla and cortex. This pathology was compatible with that of congenital dilatation of the large and segmental bile ducts (Caroli's disease described in humans, dogs and rats. In humans Caroli's disease has an autosomal recessive inheritance pattern, while in rats activation of the MEK5/ERK cascade initiates the biliary dysgenesis of Caroli's disease in this species. However, the exact mode of inheritance and pathogenesis of Caroli's disease in dogs is as yet unknown. Previous reports on congenital hepatic cystic diseases of the dog have described Caroli's disease like lesions in various breeds, but these are believed to be the 1st reported cases in the Golden retriever breed.

  3. The Great Recession and Workers' Health Benefits.

    Science.gov (United States)

    Koh, Kanghyock

    2018-03-01

    During a recession, cost-sharing of employer-sponsored health benefits could increase to reduce labor costs in the U.S. Using a variation in the severity of recession shocks across industries, I find evidence that the enrollment rate of high deductible health plans (HDHPs) among workers covered by employer-sponsored health benefits increased more among firms in industries that experienced severe recession shocks. As potential mechanisms, I study employer-side and worker-side mechanisms. I find that employers changed health benefit offerings to force or incentivize workers to enroll in HDHPs. But I find little evidence of an increase in workers' demand for HDHPs due to a reduction in income. These results suggest that the HDHP enrollment rate increased during the Great Recession, as employers tried to save costs of offering health benefits. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. Double elevator weakening for unilateral congenital superior oblique palsy with ipsilateral superior rectus contracture and lax superior oblique tendon.

    Science.gov (United States)

    Khan, Arif O

    2012-06-01

    In unilateral congenital superior oblique palsy, a large hypertropia is sometimes associated with ipsilateral contracture of the superior rectus muscle and apparent overaction of the contralateral superior oblique. Ipsilateral double elevator weakening is one surgical approach; however, this procedure could compromise supraduction. We report a series of three consecutive patients who underwent ipsilateral superior rectus and inferior oblique recessions for unilateral superior oblique palsy. Intraoperatively, all three patients were found to have a lax ipsilateral superior oblique tendon. Postoperatively, all three patients had satisfactory correction of the hypertropia and abnormal head position with minimal supraduction defect. This procedure seems to be an acceptable initial surgical option for treating congenital superior oblique muscle palsy with ipsilateral contracture of the superior rectus muscle, even when the ipsilateral superior oblique tendon is lax. Copyright © 2012 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.

  5. Measurement of the lateral recess angle as a possible alternative for evaluation of the lateral recess stenosis on a CT scan

    International Nuclear Information System (INIS)

    Strojnik, T.

    2001-01-01

    Stenosis of the lateral recess in the lumbar spinal canal is a clinical problem, especially in terms of surgical management. Criteria for the diagnosis and surgical treatment of lateral recess stenosis (LRS) are not clearly defined. Several authors have suggested measurement of the lateral recess height (LRH) on computed tomography (CT) scans as a helpful tool for making decisions in regard of management. The present study is based an the assumption that measurement of the lateral recess angle (LRA) may be useful in the clinical management of lateral recess stenosis. The reliability and significance of the results have been analyzed. In 35 patients, the stenosis was confirmed by intraoperative measurement of the lateral recess height. Fifty-three affected lateral recesses were analyzed. Before surgery, the heights on CT scans were measured. The mean value was 3.3 mm (SD = 0.9 mm), while 41 of them were 3.6 mm or less. Furthermore, the angles on CT scans were evaluated. The mean value was 25.9 degrees (SD = 4.9 degrees), 48 of them were 30 degrees or less and only 5 of them achieved more than 30 degrees. Results reveal that the best quantitative determination of a lateral recess stenosis is a CT scan angle measurement with a critical value of 30 degrees. A CT scan height of 3.6 mm or less is also indicative of stenosis. Statistical evaluation of the data by multiple regression analysis revealed agreement between intraoperative findings and measured heights (p = 0.02), while even better results were noted for angles (p < 0.01). Interfacet distance (IF) was found to be least predictive (p = 0.04). (author)

  6. Recessed floating pier caps for highway bridges.

    Science.gov (United States)

    1973-01-01

    Presented are alternate designs for two existing bridges in Virginia - one with steel beams and the other with prestressed concrete beams - whereby the pier caps are recessed within the depth of the longitudinal beams. The purpose of this recession i...

  7. Congenital abnormalities in Japanese patients with Menkes disease.

    Science.gov (United States)

    Gu, Yan-Hong; Kodama, Hiroko; Kato, Tadaaki

    2012-10-01

    Menkes disease (MNK) is an X-linked recessive disorder. Incidence of live-born infants with MNK is 2.8 per million live births in Japan. The aim of this study was to observe congenital malformations (CMs) in MNK patients. Subjects comprised 35 Japanese male patients with classical MNK who received copper histidine treatment. Patient clinical data were obtained anonymously from medical records or medical record summaries by pediatrician's retrospective review through a survey. We observed 21 different CMs in 14 patients. Eight of these had a single CM, while six had multiple CMs. The most frequent CM was higher arched palate with other CMs found in five patients. There was no relationship between CMs and mutations in the ATP7A gene. Using Mann-Whitney U tests, age at death was also significantly lower in MNK patients with CMs (Pheart disease, and one with microphallus. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  8. Congenital adrenal hyperplasia - experience from a tertiary centre in South India

    Directory of Open Access Journals (Sweden)

    George Belinda

    2012-01-01

    Full Text Available Congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors. Most common is 21 hydroxylase deficiency. Clinical spectrum varies from non-classical CAH to classic CAH, and it may be simple virilising form or salt-wastinfg type. 29 patients were included in our study from January 2012 to October 2012. 76% were females. Male babies typically presented with adrenal crisis between 3 rd to 6 th week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3 rd of patients. 1/3 rd of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height.

  9. Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient.

    Science.gov (United States)

    Orrico, A; Galli, L; Zappella, M; Orsi, A; Hayek, G

    2001-02-01

    In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such a distinctive craniofacial appearance and psychomotor retardation allows us to recognize a new case of the Marden-Walker syndrome. Our patient represents one of the rare cases in which consanguineous mating supports the autosomal-recessive pattern of inheritance of this condition. Furthermore, through refining the phenotype of a surviving patient, this report may contribute to a better recognition of this disorder in older affected children.

  10. Severe steatohepatitis in a patient with a rare neutral lipid storage disorder due to ABHD5 mutation.

    Science.gov (United States)

    Ronchetti, Anna; Prati, Daniele; Pezzotta, Maria Grazia; Tavian, Daniela; Colombo, Roberto; Callea, Francesco; Colli, Agostino

    2008-09-01

    Fatty liver disease is mainly caused by alcohol consumption, excessive body weight, dyslipidemia and impaired glucose tolerance, but inherited disorders can sometimes be involved. We report the case of a 40-year-old woman with steatohepatitis and severe portal hypertension, associated with ichthyosis, cataract and hypoacusia. The clinical, pathological and genetic findings were consistent with a diagnosis of Chanarin-Dorfman syndrome (CDS), a rare autosomal recessive inherited neutral lipid storage disorder, and genetic analysis showed that a novel ABHD5 mutation is responsible.

  11. Hospital Capital Investment During the Great Recession.

    Science.gov (United States)

    Choi, Sung

    2017-01-01

    Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal.

  12. Hospital Capital Investment During the Great Recession

    Science.gov (United States)

    Choi, Sung

    2017-01-01

    Hospital capital investment is important for acquiring and maintaining technology and equipment needed to provide health care. Reduction in capital investment by a hospital has negative implications for patient outcomes. Most hospitals rely on debt and internal cash flow to fund capital investment. The great recession may have made it difficult for hospitals to borrow, thus reducing their capital investment. I investigated the impact of the great recession on capital investment made by California hospitals. Modeling how hospital capital investment may have been liquidity constrained during the recession is a novel contribution to the literature. I estimated the model with California Office of Statewide Health Planning and Development data and system generalized method of moments. Findings suggest that not-for-profit and public hospitals were liquidity constrained during the recession. Comparing the changes in hospital capital investment between 2006 and 2009 showed that hospitals used cash flow to increase capital investment by $2.45 million, other things equal. PMID:28617202

  13. Comparison of results of medial rectus muscle recession using augmentation, Faden procedure, and slanted recession in the treatment of high accommodative convergence/accommodation ratio esotropia.

    Science.gov (United States)

    Gharabaghi, Davoud; Zanjani, Leila Kazemi

    2006-01-01

    According to the literature, accommodative esotropia has an unpredictable course when nonsurgical treatment is considered, especially in cases with a high accommodative convergence/accommodation ratio (AC/A). The aim of this study was to compare the results of augmented recession, slanted recession, and recession with posterior fixation suture of the medial rectus muscles in the treatment of high AC/A esotropia. Twenty-eight children (4 to 14 years old) with high AC/A esotropia with a near-distance disparity greater than 10 PD were included in a prospective, randomized, blinded clinical trial. Nine children underwent recession of both medial rectus muscles and posterior fixation suture (Faden procedure), 9 children underwent augmented recession of the medial rectus muscles, and 10 children underwent slanted recession of both medial rectus muscles. The amount of esodeviation was measured before strabismus surgery and at least 6 months postoperatively. In the augmented recession group, the mean near-distance disparity was reduced from 16.33 +/- 2.17 PD preoperatively to 7.55 +/- 3.87 PD postoperatively (54.21%; P = .056). In the Faden procedure group, it was reduced from 15.22 +/- 4.08 PD to 2.55 +/- 4.03 PD (80.7%; P = .056). In the slanted recession group, it was reduced from 15.50 +/- 4.30 PD to 4.10 +/- 4.80 PD (67.55%; P = .056). The Faden procedure had the best outcome, but slanted recession also was successful. Because of our good results and an easy, non-invasive approach without any additional complications, we recommend slanted recession to treat high AC/A esotropia.

  14. Tay's syndrome: MRI

    Energy Technology Data Exchange (ETDEWEB)

    Porto, L.; Reichel, P.; Lanfermann, H.; Zanella, F.E. [Institut of Neuroradiology, Johann Wolfgang Goethe-University, Frankfurt/Main (Germany); Weis, R. [Neuropediatric Department, Johann Wolfgang Goethe-University, Frankfurt/Main (Germany); Schulz, C. [Dermatology Department, Johann Wolfgang Goethe-University, Frankfurt/Main (Germany)

    2000-11-01

    Tay's syndrome is a trichothiodystrophy associated with congenital ichthyosis. We report the findings on MRI and spectroscopy in a young girl with sparse, short, ruffled hair, dry skin and delayed milestones. T2-weighted images showed prominent diffuse confluent increase in signal symmetrically in all the supratentorial white matter. These findings are similar to those in a previously described case, and consistent with dysmyelination. Spectroscopy showed increased myoinositol and decreased choline. (orig.)

  15. Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting

    DEFF Research Database (Denmark)

    Chen, Neng; Tranebjærg, Lisbeth; Rendtorff, Nanna Dahl

    2011-01-01

    Pendred syndrome and DFNB4 (autosomal recessive nonsyndromic congenital deafness, locus 4) are associated with autosomal recessive congenital sensorineural hearing loss and mutations in the SLC26A4 gene. Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites...

  16. State Government Revenue Recovery from the Great Recession

    OpenAIRE

    James Alm; David L. Sjoquist

    2014-01-01

    The "Great Recession" lasted from December 2007 to June 2009, and it wreaked havoc on the revenues of state (and local) governments. While the U.S. economy has improved since the end of the Great Recession, state government revenues have in most cases still not completely recovered. We use various indicators to measure how different states have -- or have not -- recovered in the aftermath of the Great Recession, and we also attempt to explain why these different patterns of recovery have emer...

  17. Development of Web-Based RECESS Model for Estimating Baseflow Using SWAT

    Directory of Open Access Journals (Sweden)

    Gwanjae Lee

    2014-04-01

    Full Text Available Groundwater has received increasing attention as an important strategic water resource for adaptation to climate change. In this regard, the separation of baseflow from streamflow and the analysis of recession curves make a significant contribution to integrated river basin management. The United States Geological Survey (USGS RECESS model adopting the master-recession curve (MRC method can enhance the accuracy with which baseflow may be separated from streamflow, compared to other baseflow-separation schemes that are more limited in their ability to reflect various watershed/aquifer characteristics. The RECESS model has been widely used for the analysis of hydrographs, but the applications using RECESS were only available through Microsoft-Disk Operating System (MS-DOS. Thus, this study aims to develop a web-based RECESS model for easy separation of baseflow from streamflow, with easy applications for ungauged regions. RECESS on the web derived the alpha factor, which is a baseflow recession constant in the Soil Water Assessment Tool (SWAT, and this variable was provided to SWAT as the input. The results showed that the alpha factor estimated from the web-based RECESS model improved the predictions of streamflow and recession. Furthermore, these findings showed that the baseflow characteristics of the ungauged watersheds were influenced by the land use and slope angle of watersheds, as well as by precipitation and streamflow.

  18. 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 ...

  19. 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. 

  20. 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.

  1. Familial megacalyces with autosomal recessive inheritance

    International Nuclear Information System (INIS)

    Lam, A.H.

    1988-01-01

    Three children with bilateral congenital megacalyces from a consanguinous marriage are reported. No renal abnormality was detected in the parents. Our observation supports the genetic nature of the disease. The ultrasonographic features of congenital megacalyces are described. (orig.)

  2. Economic recession and suicidal behaviour: Possible mechanisms and ameliorating factors.

    Science.gov (United States)

    Haw, Camilla; Hawton, Keith; Gunnell, David; Platt, Stephen

    2015-02-01

    A growing body of research evidence from countries around the world indicates that economic recession is associated with increases in suicide, particularly in males of working age. To explore contributory and ameliorating factors associated with economic recession and suicide and thereby stimulate further research in this area and encourage policy makers to consider how best to reduce the impact of recession on mental health and suicidal behaviour. We conducted a selective review of the worldwide literature focusing on possible risk factors, mechanisms and preventative strategies for suicidal behaviour linked to economic recession. A model of how recession might affect suicide rates is presented. A major and often prolonged effect of recession is on unemployment and job insecurity. Other important effects include those exerted by financial loss, bankruptcy and home repossession. It is proposed these factors may lead directly or indirectly to mental health problems such as depression, anxiety and binge drinking and then to suicidal behaviour. Countries with active labour market programmes and sustained welfare spending during recessions have less marked increases in suicide rates than those that cut spending on welfare and job-search initiatives for the unemployed. Other measures likely to help include targeted interventions for unemployed people, membership of social organisations and responsible media reporting. Good primary care and mental health services are needed to cope with increased demand in times of economic recession but some governments have in fact reduced healthcare spending as an austerity measure. The research evidence linking recession, unemployment and suicide is substantial, but the evidence for the other mechanisms we have investigated is much more tentative. We describe the limitations of the existing body of research as well as make suggestions for future research into the effects of economic recession on suicidal behaviour. © The Author

  3. The Great Recession and America’s Geography of Unemployment

    Science.gov (United States)

    Thiede, Brian C.; Monnat, Shannon M.

    2017-01-01

    Background The Great Recession of 2007–2009 was the most severe and lengthy economic crisis in the U.S. since the Great Depression. The impacts on the population were multi-dimensional, but operated largely through local labor markets. Objective To examine differences in recession-related changes in county unemployment rates and assess how population and place characteristics shaped these patterns. Methods We calculate and decompose Theil Indexes to describe recession-related changes in the distribution of unemployment rates between counties and states. We use exploratory spatial statistics to identify geographic clusters of counties that experienced similar changes in unemployment. We use spatial regression to evaluate associations between county-level recession impacts on unemployment and demographic composition, industrial structure, and state context. Results The recession was associated with increased inequality between county labor markets within states, but declining between-state differences. Counties that experienced disproportionate recession-related increases in unemployment were spatially clustered and characterized by large shares of historically disadvantaged racial and ethnic minority populations, low educational attainment, and heavy reliance on pro-cyclical industries. Associations between these sources of vulnerability were partially explained by unobserved state-level factors. Conclusions The local consequences of macroeconomic trends are associated with county population characteristics, as well as the structural contexts and policy environments in which they are embedded. The recession placed upward pressure on within-state inequality between local labor market conditions. Contribution To present new estimates of the recession’s impact on local labor markets, quantify how heterogeneous impacts affected the distribution of unemployment prevalence, and identify county characteristics associated with disproportionately large recession

  4. Effects of combined gate and ohmic recess on GaN HEMTs

    Directory of Open Access Journals (Sweden)

    Sunil Kumar

    2016-09-01

    Full Text Available AlGaN/GaN, because of their superior material properties, are most suitable semiconductor material for High Electron Mobility Transistors (HEMTs. In this work we investigated the hidden physics behind these materials and studied the effect of recess technology in AlGaN/GaN HEMTs. The device under investigation is simulated for different recess depth using Silvaco-Atlas TCAD. Recess technology improves the performance of AlGaN/GaN HEMTs. We considered three kinds of recess technology gate, ohmic and combination of gate and ohmic. Gate recess improves transconductance gm but it reduces the drain current Id of the device under investigation. Ohmic recess improves the transconductance gm but it introduces leakage current Ig in the device. In order to use AlGaN/GaN for high voltage operation, both the transconductance and the drain current should be reasonably high which is obtained by combining both gate and ohmic recess technologies. A good balance in transconductance and drain current is achieved by combining both gate and ohmic recess technologies without any leakage current.

  5. 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.

  6. A case of Fukuyama type congenital muscular dystrophy with progressive changes of brain CT scanning

    International Nuclear Information System (INIS)

    Mori, Kenzi; Saijo, Takahiko; Hamaguchi, Hiroshi; Tayama, Masanobu; Kawano, Noboru; Hashimoto, Toshiaki; Miyao, Masuhide

    1988-01-01

    The Fukuyama type congenital muscular dystrophy (F-CMD) has been generally recognized as a well delineated subgroup of progressive muscular dystrophy with uniform clinical and pathological features. But the pathogenesis is not yet clear. Two theories have been proposed ; autosomal recessive inheritance and intrauterine infection. We experienced a female case of F-CMD, and tried serial brain CT scanning from the birth to one year of age. Low density changes of white matter were not found at the first day of her life. But marked brain atrophy and low density changes of white matter were found after three months. We propose that CT examination should be repeated from early stage to clarify the pathogenesis of F-CMD. (AUTHOR)

  7. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  8. The Role of Credit in Predicting US Recessions

    DEFF Research Database (Denmark)

    Pönkä, Harri

    are useful predictors of US recessions over and above the control variables both in and out of sample. Especially the excess bond premium, capturing the cyclical changes in the relationship between default risk and credit spreads, is found to be a powerful predictor. Overall, models that combine credit......We study the role of credit in forecasting US recession periods with probit models. We employ both classical recession predictors and common factors based on a large panel of financial and macroeconomic variables as control variables. Our findings suggest that a number of credit variables...

  9. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study

    Directory of Open Access Journals (Sweden)

    Cornel Martina C

    2010-07-01

    Full Text Available Abstract Background The offspring of consanguineous relations have an increased risk of congenital/genetic disorders and early mortality. Consanguineous couples and their offspring account for approximately 10% of the global population. The increased risk for congenital/genetic disorders is most marked for autosomal recessive disorders and depends on the degree of relatedness of the parents. For children of first cousins the increased risk is 2-4%. For individual couples, however, the extra risk can vary from zero to 25% or higher, with only a minority of these couples having an increased risk of at least 25%. It is currently not possible to differentiate between high-and low-risk couples. The quantity of DNA identical-by-descent between couples with the same degree of relatedness shows a remarkable variation. Here we hypothesize that consanguineous partners with children affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related partners who have only healthy children. The aim of the study is thus to establish whether the amount of DNA identical-by-descent in consanguineous parents of children with an autosomal recessive disease is indeed different from its proportion in consanguineous parents who have healthy children only. Methods/Design This project is designed as a case-control study. Cases are defined as consanguineous couples with one or more children with an autosomal recessive disorder and controls as consanguineous couples with at least three healthy children and no affected child. We aim to include 100 case couples and 100 control couples. Control couples are matched by restricting the search to the same family, clan or ethnic origin as the case couple. Genome-wide SNP arrays will be used to test our hypothesis. Discussion This study contains a new approach to risk assessment in consanguineous couples. There is no previous study on the amount of DNA identical-by-descent in consanguineous

  10. The Recession Squeezes Training.

    Science.gov (United States)

    Geber, Beverly

    1991-01-01

    Recession is having an impact on training departments. Besides a slowdown, it provides managers with a chance to reevaluate programs to ensure they are attuned to the specific goals of the company. (JOW)

  11. Health Impacts of the Great Recession: A Critical Review.

    Science.gov (United States)

    Margerison-Zilko, Claire; Goldman-Mellor, Sidra; Falconi, April; Downing, Janelle

    2016-03-01

    The severity, sudden onset, and multipronged nature of the Great Recession (2007-2009) provided a unique opportunity to examine the health impacts of macroeconomic downturn. We comprehensively review empirical literature examining the relationship between the Recession and mental and physical health outcomes in developed nations. Overall, studies reported detrimental impacts of the Recession on health, particularly mental health. Macro- and individual-level employment- and housing-related sequelae of the Recession were associated with declining fertility and self-rated health, and increasing morbidity, psychological distress, and suicide, although traffic fatalities and population-level alcohol consumption declined. Health impacts were stronger among men and racial/ethnic minorities. Importantly, strong social safety nets in some European countries appear to have buffered those populations from negative health effects. This literature, however, still faces multiple methodological challenges, and more time may be needed to observe the Recession's full health impact. We conclude with suggestions for future work in this field.

  12. Child Poverty and the Great Recession in the United States

    OpenAIRE

    Marianne Bitler; Hilary Hoynes; Elira Kuka

    2014-01-01

    In the midst of the Great Recession, median real household income fell from $61,597 in 2007 to $57,025 in 2010 and $51,007 in 2012. Given that the effects of the Great Recession on unemployment were greater for less skilled workers the authors expect the effects of the Great Recession on household incomes to be larger in relative terms for individuals in the lower end of the income distribution. To explore this issue, in this paper, they comprehensively examine the effects of the Great Recess...

  13. Aeroacoustical Study of the Tgv Pantograph Recess

    Science.gov (United States)

    NOGER, C.; PATRAT, J. C.; PEUBE, J.; PEUBE, J. L.

    2000-03-01

    The general focus of this aerodynamic noise research, induced by turbulent incompressible flow, is to improve our knowledge of acoustic production mechanisms in the TGV pantograph recess in order to be able to reduce the radiated noise. This work is performed under contract with SNCF as a part of the German-French Cooperation DEUFRAKO K2, and is supported by French Ministries for Transport and Research. Previous studies on TGV noise source locations (DEUFRAKO K) have identified the pantograph recess as one of the important aerodynamic noise sources, for speeds higher than 300 km/h, due to flow separation. The pantograph recess is a very complex rectangular cavity, located both on the power car and the first coach roofs of the TGV, and has not been studied before due to the complex shapes. Its aeroacoustic features are investigated experimentally in a low-subsonic wind tunnel, on a realistic 1/7th scale mock-up both with and without pantographs. Flow velocities, estimated with hot-wire anemometry, and parietal visualizations show the flow to reattach on the recess bottom wall and to separate again at the downstream face. Wall pressure fluctuations and “acoustic” measurements using 14 and 12 in microphones respectively are also measured to qualify the flow: no aerodynamic or acoustic oscillations are observed. The study indicates that the pantograph recess has a different behaviour compared to the usual cavity grazing flows.

  14. Non-Overweight and Overweight Children's Physical Activity during School Recess

    Science.gov (United States)

    Ridgers, Nicola D.; Saint-Maurice, Pedro F.; Welk, Gregory J.; Siahpush, Mohammad; Huberty, Jennifer L.

    2014-01-01

    Objective: Little research has investigated children's physical activity levels during school recess and the contribution of recess to school day physical activity levels by weight status. The aims of this study were to examine non-overweight and overweight children's physical activity levels during school recess, and examine the contribution of…

  15. Systematic review of recess interventions to increase physical activity.

    Science.gov (United States)

    Ickes, Melinda J; Erwin, Heather; Beighle, Aaron

    2013-08-01

    With the rapid increase in obesity rates among youth, efforts to increase physical activity (PA) have become a priority. School-based strategies for PA promotion must be cost-effective, unobtrusive, and linked to improved academic performance. Efforts to maximize recess PA are advocated because of both health and academic benefits. The purpose of this manuscript was to review recess interventions aimed to improve PA among youth, and make recommendations to develop related best practices. An extensive literature search was conducted to include all primary research articles evaluating any recess intervention with PA as an outcome. The included 13 interventions represented both settings within the U.S and internationally, among preschools and elementary/primary schools. A variety of strategies were used within the design and implementation of each of the interventions including: added equipment/materials, markings, zones, teacher involvement, active video games, activity of the week, and activity cards. Of the included studies, 95% demonstrated positive outcomes as a result of the recess intervention. A number of simple, low-cost strategies can be implemented to maximize the amount of recess time students are allotted. Long-term follow-up studies are warranted for each of the recess strategies identified to be effective.

  16. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  17. The differences in physical activity levels in preschool children during free play recess and structured play recess

    Directory of Open Access Journals (Sweden)

    Megan L. Frank

    2018-04-01

    Full Text Available Background/Objective: Physical activity (PA is important in reducing childhood obesity, yet a majority of children are not meeting PA guidelines. Schools have been identified as a place to promote childhood PA. The purpose of this study was to determine the best type of physically active recess period to increase preschool-aged children's PA. Methods: PA was measured via accelerometers in preschool-aged children (n = 29 during three, 30-min recess conditions (control; structured play; free play on separate school days. Tertile splits were performed based on PA during the free play condition and children were divided into three groups: highly, moderately and least active. Results: For the aggregated sample, children were more (p ≤ 0.001 active during the free play (1282 ± 662 counts. min−1 and structured play (1416 ± 448 counts. min−1 recess versus the control condition (570 ± 460 counts. min−1 and activity was not different between the free play and structured conditions. However, children who were the most active during free play (1970 ± 647 counts·min−1 decreased (p ≤ 0.05 activity during structured play (1462 ± 535 counts·min−1, whereas children who were moderately active (1031 ± 112 counts·min−1 or the least (530 ± 239 counts·min−1 active during free play increased activity during structured play (1383 ± 345 counts·min−1 moderately active, 1313 ± 413 counts·min−1 least active. Conclusion: Providing a physically-active recess period will contribute to preschool-aged children meeting the recommended PA guidelines; however, different children may respond in a different way based upon the structure of the recess period.

  18. The Effect of Recessions on Firms’ Boundaries

    DEFF Research Database (Denmark)

    Knudsen, Eirik Sjåholm; Foss, Kirsten

    2014-01-01

    The economic theory of the firm offers conflicting predictions of how the two major effects of recessions, changes in demand and access to credit, affect firm boundaries. Using data on Norwegian firms in the recent recession, we find support for both increased and reduced vertical integration...... explanation for the conflicting theoretical predictions regarding vertical integration in response to demand and credit shocks....

  19. Academic Performance and the Great Recession

    OpenAIRE

    Adamopoulou, Effrosyni; Tanzi, Giulia M.

    2014-01-01

    In this paper we study how the Great Recession affected university students in terms of performance, with a special focus on the dropout probability. To do so, we use individual-level data on a representative sample of university students in Italy in 2007 and 2011. We measure the severity of the recession in terms of increases in adult and youth unemployment rate and we exploit geographical variation to achieve identification. On the one hand, an increase in adult male unemployment rate deter...

  20. Recession-An issue for organizations

    Directory of Open Access Journals (Sweden)

    Daniel GEORGESCU

    2009-12-01

    Full Text Available The reality in all organization is that the directors and board are in the position of highest influence and their primary responsibility is leadership. As such, considering the consequences of a recession such as we currently face is not the time for directors to abdicate their responsibilities – it is time for governance leadership. The directors and the board must think and respond strategically. The article shows a matrix for positioning the general manager in recession that is similarly with BCG matrix and in the final a table with a set of essential questions for helping the board in new strategies building.

  1. Autosomal recessive anhidrotic ectodermal dysplasia: A rare entity

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2014-01-01

    Full Text Available We describe a case of anhidrotic ectodermal dysplasia (AED with an autosomal recessive mode of inheritance, a very rare entity, in a 2-year-old female child of two asymptomatic, consanguineous parents. Their previous child also had a similar condition. Autosomal recessive AED (AR-AED can have its full expression both in males and females and it is clinically indistinguishable from the x-linked recessive AED (XL-AED, which is the most common type of ectodermal dysplasia. Unlike the partially symptomatic carriers of XL-AED, the heterozygotes of AR-AED are phenotypically asymptomatic.

  2. Recent declines in cancer incidence: related to the Great Recession?

    Science.gov (United States)

    Gomez, Scarlett Lin; Canchola, Alison J; Nelson, David O; Keegan, Theresa H M; Clarke, Christina A; Cheng, Iona; Shariff-Marco, Salma; DeRouen, Mindy; Catalano, Ralph; Satariano, William A; Davidson-Allen, Kathleen; Glaser, Sally L

    2017-02-01

    In recent years, cancer case counts in the U.S. underwent a large, rapid decline-an unexpected change given population growth for older persons at highest cancer risk. As these declines coincided with the Great Recession, we examined whether they were related to economic conditions. Using California Cancer Registry data from California's 30 most populous counties, we analyzed trends in cancer incidence during pre-recession (1996-2007) and recession/recovery (2008-2012) periods for all cancers combined and the ten most common sites. We evaluated the recession's association with rates using a multifactorial index that measured recession impact, and modeled associations between case counts and county-level unemployment rates using Poisson regression. Yearly cancer incidence rate declines were greater during the recession/recovery (3.3% among males, 1.4% among females) than before (0.7 and 0.5%, respectively), particularly for prostate, lung, and colorectal cancers. Lower case counts, especially for prostate and liver cancer among males and breast cancer, melanoma, and ovarian cancer among females, were associated with higher unemployment rates, irrespective of time period, but independent of secular effects. The associations for melanoma translated up to a 3.6% decrease in cases with each 1% increase in unemployment. Incidence declines were not greater in counties with higher recession impact index. Although recent declines in incidence of certain cancers are not differentially impacted by economic conditions related to the Great Recession relative to pre-recession conditions, the large recent absolute declines in the case counts of some cancer may be attributable to the large declines in unemployment in the recessionary period. This may occur through decreased engagement in preventive health behaviors, particularly for clinically less urgent cancers. Continued monitoring of trends is important to detect any rises in incidence rates as deferred diagnoses come to

  3. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  4. Results after gastrocnemius recession in 73 patients.

    Science.gov (United States)

    Molund, Marius; Paulsrud, Øyvind; Ellingsen Husebye, Elisabeth; Nilsen, Fredrik; Hvaal, Kjetil

    2014-12-01

    Very few studies describe the clinical results and complications following the surgical procedure of gastrocnemius recession. To survey the patient reported outcomes in patients operated with gastrocnemius recession as single procedure for various foot conditions. 93 patients operated with gastrocnemius recession as single procedure between 2006 and 2011 were detected in the database. 73 patients responded to the invitation for study participation. Questionnaires containing patient reported satisfaction, complications, plantar flexion power and visual analog pain score were used for evaluation of the postoperative result. 45/73 (62%) patients reported a good or excellent result. 8/73 (11%) patients reported a significant postoperative complication. 16/73 (22%) patients noted reduced or severely reduced plantar flexion power after surgery. VAS pain score significantly decreased from 7.0 before surgery to 1.8 (p=0.015) after surgery for patients with plantar fasciitis (n=18) and from 5.6 to 2.3 (p<0.01) for patients with metatarsalgia (n=28). Patients treated with gastrocnemius recession for plantar fasciitis demonstrated good clinical results. The complication rate was higher than reported by others. Copyright © 2014 European Foot and Ankle Society. Published by Elsevier Ltd. All rights reserved.

  5. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  6. Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI

    Directory of Open Access Journals (Sweden)

    Zhang Xi-Bao

    2012-01-01

    Full Text Available Background : Netherton syndrome (NS is a severe autosomal recessive ichthyosis. It is characterized by congenital ichthyosiform erythroderma, trichorrhexis invaginata, ichthyosis linearis circumflexa, atopic diathesis, and frequent bacterial infections. The disease is caused by mutations in the SPINK5 (serine protease inhibitor Kazal-type 5 gene, a new type of serine protease inhibitor involved in the regulation of skin barrier formation and immunity. We report one Chinese adult with NS. The patient had typical manifestation of NS except for trichorrhexis invaginata with an atopic diathesis and recurrent staphylococcal infections since birth. Aims: To evaluate the gene mutation and of its product activity of SPINK5 gene in confirmation of the diagnosis of one Chinese adult with NS. Materials and Methods: To screen mutations in the SPINK5 gene, 33 exons and flanking intron boundaries of SPINK5 were amplified with polymerase chain reaction (PCR and used for direct sequencing. In addition, immunohistochemical staining of LEKTI (lymphoepithelial Kazal-type-related inhibitor with specific antibody was used to confirm the diagnosis of NS. The results were compared with that of healthy individuals (twenty-five blood samples. Results: A G318A mutation was found at exon 5 of patient′s SPINK5 gene which is a novel missense mutation. The PCR amplification products with mutation-specific primer were obtained only from the DNA of the patients and their mother, but not from their father and 25 healthy individuals. Immunohistochemical studies indicated there was no LEKTI expression in NS patient′s skin and there was a strong LEKTI expression in the normal human skin. Conclusion: In this report, we describe heterozygous mutation in the SPINK5 gene and expression of LEKTI in one Chinese with NS. The results indicate that defective expression of LEKTI in the epidermis and mutations of SPINK5 gene are reliable for diagnostic feature of NS with atypical

  7. A etiologia multifatorial da recessão periodontal The etiologic factors of periodontal recession

    Directory of Open Access Journals (Sweden)

    Karen Ferreira Gazel Yared

    2006-12-01

    Full Text Available A literatura apresenta vários fatores relacionados na etiologia da recessão periodontal, além do processo inflamatório induzido pelo biofilme bacteriano, os quais incluem fatores externos e anatômicos locais. Por meio deste estudo, revistou-se a literatura sobre tais fatores, cujo conhecimento é de grande importância para o ortodontista, contribuindo durante o diagnóstico, planejamento e tratamento ortodôntico propriamente dito.The literature shows that besides dental plaque, some external and anatomic local factors are still related to gingival recession etiology. This study reviewed the literature about those factors, which knownledge is of great benefit to the orthodontist, contributing during diagnostic, planning and orthodontic treatment.

  8. Gingival recession is likely associated with tongue piercings.

    Science.gov (United States)

    Reynolds, Mark A

    2012-09-01

    A convenience sample of 60 subjects (27 male; 33 female) with tongue piercings (case group) and 120 subjects (43 male; 77 female) without tongue piercings (control group), ranging in age from 13 to 28 years, were identified from a mix of races living in a geographic area of low socioeconomic status in Brazil. Subjects were recruited from school groups and university centers between January 2008 and March 2009. For each case, 2 controls were selected on a consecutive basis from the same school according to criteria that included age, gender, smoking, and previous orthodontic treatment. Exclusion criteria included individuals with systemic diseases that might compromise the immune system, as well as antibiotics within 3 months or other medications that could affect the gingival tissues. The key study factor was the use or nonuse of tongue piercings (jewelry). The analysis compared periodontal parameters, such as the occurrence, location, and severity of gingival recession, in subjects with and without tongue jewelry. Gingival recession in the anterior lingual mandibular region was assessed as the primary outcome measure. The study sample was divided according to the presence or absence of gingival recession as well as the severity (1-2, 3, and ≥ 4 mm) of gingival recession. The average age of subjects was similar in the case and control groups (18.9 versus 17.7 years, respectively). Fractures of the anterior teeth were present significantly more frequently in cases than controls (26.7% versus 11.7%, respectively; P piercings (OR = 11.0, 95% confidence interval [CI] 5.02-24.09, P <.001). The severity of recession in this region was also significantly higher (calculated using an ordinal scale) in cases than in controls (P < .001). The final multivariate logistic regression model for occurrence of gingival recession included the variables tongue jewelry (yes/no), age, male gender, and the presence of bleeding on probing in the anterior region. Subjects with tongue

  9. Gingival recession: prevalence and risk indicators among young greek adults.

    Science.gov (United States)

    Chrysanthakopoulos, Nikolaos A

    2014-07-01

    The aim of the current research was to assess the prevalence of gingival recession and to investigate possible associations among this condition, periodontal and epidemiological variables in a sample of young Greek adults in a general dental practice. A total of 1,430 young adults was examined clinically and interviewed regarding several periodontal and epidemiological variables. Collected data included demographic variables, oral hygiene habits and smoking status. Clinical examination included the recording of dental plaque, supragingival calculus presence, gingival status and buccal gingival recession. Multivariate logistic regression analysis model was performed to access the possible association between gingival recession and several periodontal and epidemiological variables as potential risk factors. The overall prevalence of gingival recession was 63.9%. The statistical analysis indicated that higher educational level [OR= 2.12, 95% CI= 0.53-8.51], cigarette smoking [OR= 1.97, 95% CI= 1.48-7.91], frequent tooth brushing [OR= 0.98, 95% CI= 0.56-1.96], presence of oral piercing [OR= 0.92, 95% CI= 0.38-1.58], presence of gingival inflammation [OR= 4.54, 95% CI= 1.68-7.16], presence of dental plaque [OR= 1.67, 95% CI= 0.68-2.83] and presence of supragingival calculus [OR=1.34, 95% CI= 0.59-1.88], were the most important associated factors of gingival recession. The observations of the current research supported the results from previous authors that several periodontal factors, educational level and smoking were significantly associated with the presence of gingival recession, while presence of oral piercing was a new factor that was found to be associated with gingival recession. Key words:Gingival recession, prevalence, risk factors, young adults.

  10. Gingival recession in smokers and non-smokers with minimal periodontal disease.

    Science.gov (United States)

    Müller, Hans-Peter; Stadermann, Sabine; Heinecke, Achim

    2002-02-01

    Smoking is a major risk factor for destructive periodontal disease. There is limited information with regard to effects of smoking in subjects with minimal periodontal destruction. The aim of the present investigation was to assess the development of gingival recession in young adult smokers and non-smokers. 61 systemically healthy young adults, 19 to 30 years of age completed the final examination. 30 volunteers smoked at least 20 cigarettes per day, whereas 31 subjects were non-smokers. Clinical periodontal conditions were assessed 4x within a time period of 6 months. Site-specific analyses considering the correlated structure of data were performed. At the outset, 50% of subjects presented with gingival recession at 1 or more sites. There was no significant difference in the prevalence of gingival recession between non-smokers and smokers. Severe recession in excess of 2 mm affected about 23% non-smokers but only 7% smokers. Some further gingival recession developed during the 6-month observation period. In a multivariate logistic regression analysis, the risk for recession development appeared not to be influenced by smoking status after adjusting for periodontal probing depth, recession at baseline, tooth brushing frequency, gender, jaw, tooth type and site. Present data did not support the hypothesis that smokers are at an increased risk for the development of gingival recession.

  11. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    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 p...

  12. 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.

  13. A designated centre for people with disabilities operated by North West Parents and Friends Association, Sligo

    LENUS (Irish Health Repository)

    Ugezu, C H

    2017-07-01

    Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.

  14. Report of the unannounced inspection at Louth County Hospital, Dundalk, Co Louth

    LENUS (Irish Health Repository)

    Ugezu, C H

    2017-07-01

    Harlequin Ichthyosis is a very rare genetic disorder affecting mainly the skin with severe morbidity and mortality. It affects both sexes with incidence of about 1 in 300,000 live births. Autosomal recessive inheritance has been inferred with mutation in ABCA 12 gene identified. Hence, genetic counseling and mutation screening of this gene should be considered in at-risk patients. Death usually occurred in the first 3 months of life due to sepsis, feeding problems and respiratory distress. With improved neonatal care and early introduction of retinoids, its survival rate has increased.

  15. Pattern of Glacier Recession in Indian Himalaya

    Science.gov (United States)

    Singh, Ajay; Patwardhan, Anand

    All currently available climate models predict a near-surface warming trend under the influence of rising levels of greenhouse gases in the atmosphere. In addition to the direct effects on climate — for example, on the frequency of heat waves — this increase in surface temperatures has important consequences for the cryosphere subsequently hydrological cycle, particularly in regions where water supply is currently dominated by melting snow or ice. The Indian Himalayan region occupies a special place in the mountain ecosystems of the world. These geodynamically young mountains are not only important from the standpoint of climate and as a provider of life, giving water to a large part of the Indian subcontinent, but they also harbor a rich variety of flora, fauna, human communities and cultural diversity. Glaciers in this region are changing in area as well as in volume like those in other parts of the world. Studies have been carried out for recession in some of these glaciers using remote sensing as well as field observation techniques. Spatiotemporal pattern in the recession rate of the studied glaciers has been presented in this paper. Plausible causes for the recession have been also discussed. Finally, future scopes for observation and analysis in glaciers recession have been suggested.

  16. Stream recession curves and storage variability in small watersheds

    Directory of Open Access Journals (Sweden)

    N. Y. Krakauer

    2011-07-01

    Full Text Available The pattern of streamflow recession after rain events offers clues about the relationship between watershed runoff (observable as river discharge and water storage (not directly observable and can help in water resource assessment and prediction. However, there have been few systematic assessments of how streamflow recession varies across flow rates and how it relates to independent assessments of terrestrial water storage. We characterized the streamflow recession pattern in 61 relatively undisturbed small watersheds (1–100 km2 across the coterminous United States with multiyear records of hourly streamflow from automated gauges. We used the North American Regional Reanalysis to help identify periods where precipitation, snowmelt, and evaporation were small compared to streamflow. The order of magnitude of the recession timescale increases from 1 day at high flow rates (~1 mm h−1 to 10 days at low flow rates (~0.01 mm h−1, leveling off at low flow rates. There is significant variability in the recession timescale at a given flow rate between basins, which correlates with climate and geomorphic variables such as the ratio of mean streamflow to precipitation and soil water infiltration capacity. Stepwise multiple regression was used to construct a six-variable predictive model that explained some 80 % of the variance in recession timescale at high flow rates and 30–50 % at low flow rates. Seasonal and interannual variability in inferred storage shows similar time evolution to regional-scale water storage variability estimated from GRACE satellite gravity data and from land surface modeling forced by observed meteorology, but is up to a factor of 10 smaller. Study of this discrepancy in the inferred storage amplitude may provide clues to the range of validity of the recession curve approach to relating runoff and storage.

  17. Comparing Life Quality Strategies and Emotion Regulation in People with Congenital and Non-Congenital Motor Disability

    Directory of Open Access Journals (Sweden)

    Seyedeh Zeynab Miraghaei

    2017-10-01

    Full Text Available Objective: The purpose of the present study was to compare emotion regulation strategies and life quality of people with congenital and non-congenital motor disabilities. Method: This study is a casual-comparative study and its population consisted of all people with congenital and non-congenital motor disability in Kahrizak Charity Foundation in Tehran in 2016. To conduct the study, available sampling method was used, and congenital and non-congenital disabled people were selected (200 people. To collect data, Cognitive Emotion Regulation Scale by Granovsky and life quality questionnaire were used. Research hypotheses were tested using multivariate analysis of variance. Results: The findings of this study showed that there is a significant difference between emotion regulation components in people with congenital and non-congenital disabilities (p<0.05. Also, according to the findings, a significant difference was observed between life quality dimensions (physical and mental health in people with congenital and non-congenital disabilities (p<0.05. Conclusion: According to the significant difference between two groups of subjects, necessary measures regarding consultation and psychotherapy should be taken into consideration to let people benefit from desirable mental health level.

  18. Financialisation, oil and the Great Recession

    International Nuclear Information System (INIS)

    Gkanoutas-Leventis, Angelos; Nesvetailova, Anastasia

    2015-01-01

    This article addresses the role of world oil price hike of 2007–08 in serving to transform the financial and banking crisis into what is commonly referred to the Great Recession. Existing literature on the global crisis of 2007–09 tends to view it as a financial or banking phenomenon, with analyses focusing mainly on state policies, governance mechanisms and market dynamics in transforming the banking crisis of 2007–08 into the economic recession of 2008-12/13 Although often attributing the global meltdown to wider phenomenon of financialisation, rarely do existing perspectives delve into the role of the commodity sector in the global credit crunch. In this paper, we aim to fill this gap, by inquiring into the role played by oil as a financial asset class in the political economy of the global crisis. - Highlights: • We study the oil price and its effects on the Great Recession. • We approach oil as a financial asset class. • We observe the transformation of oil through deregulation.

  19. Students with Sickle Cell Anemia Participating in Recess

    Science.gov (United States)

    Lucas, Matthew D.; Devlin, Katharine M.

    2011-01-01

    The participation of a student with Sickle Cell Anemia in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of students with Sickle Cell Anemia and present basic solutions to improve the experience of these students in the recess setting. Initially the definition,…

  20. Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven(®)).

    Science.gov (United States)

    Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

    2013-01-01

    This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of severe side effects.

  1. Formulating the spring discharge-function for the recession period ...

    Indian Academy of Sciences (India)

    College of Agricultural Engineering & Post Harvest Technology (CAEPHT),. Central Agricultural ... during the recession period is the key to its proper management. The spring .... In equation (1), Q is the recession flow, t is time, and a, b are ...

  2. Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia.

    Science.gov (United States)

    Palin, Eino J H; Hakonen, Anna H; Korpela, Mari; Paetau, Anders; Suomalainen, Anu

    2012-04-15

    We studied the genetic background of a family with SCA, showing dominant inheritance and anticipation. Muscle histology, POLG1 gene sequence, neuropathology and mitochondrial DNA analyses in a mother and a son showed typical findings for a mitochondrial disorder, and both were shown to be homozygous for a recessive POLG1 mutation, underlying mitochondrial recessive ataxia syndrome, MIRAS. The healthy father was a heterozygous carrier for the same mutation. Recessively inherited MIRAS mutations should be tested in dominantly inherited SCAs cases of unknown cause, as the high carrier frequency of MIRAS may result in two independent introductions of the mutant allele in the family and thereby mimic dominant inheritance. Copyright © 2011 Elsevier B.V. All rights reserved.

  3. STATISTICAL STUDY ON THE PREVALENCE OF GINGIVAL RECESSION IN YOUNG ADULTS

    Directory of Open Access Journals (Sweden)

    Oana POTÂRNICHIE

    2013-07-01

    Full Text Available Gingival recession represents a serious problem, for both patient and physician, especially when exposure of the radicular surface is related to the deterioration of the aesthetic aspect and to a more pronounced dental hyper‐ sensitivity. Scope of the study: to determine the preva‐ lence and severity of recessions in young adults, correlated with the local dental, as well as socio‐economic and cultu‐ ral conditions. Materials and method: A number of 85 persons, having addressed the Department of Perio‐ dontology, Faculty of Dental Medicine of Iasi, between February‐May 2011, were examined. The following para‐ meters were recorded: sex, education level, total number of gingival recessions at the level of the oral cavity, type of brush employed, frequency of dental brushing, amount of attached gingiva, existence of labial phrenum, type of occlusion, presence of certain complications induced by the manifestation of recessions, such as hypersensitivity. Results and discussion: Analysis and correlation of data showed that the most important role in the occurrence of recessions was played by the local factors, which intensi‐ fied the action of the determining element, the bacterial plaque. Thus, the nature of periodontal recessions is of inflammatory type, those with traumatic causes being sta‐ tistically non‐significant. The type of periodontium influ‐ enced the development of recessions, so that, for a delicate periodontium, 10.4 recessions/patient have been discove‐ red, while, in a thick periodontium, only 7 recessions/ patient. In cases of phrenectomies with insertion in the vicinity of the gingival margin, recessions of various sizes have been always present. In cases of dental occlusion, the obtained data suggest that the occurrence of recessions is not considerably influenced by the type of occlusion, the values being quite close. As to their sizes, most of the reces‐ sions were situated at a level of 2‐3 mm, a

  4. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

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

  5. Recess Physical Activity and Perceived School Environment among Elementary School Children

    Directory of Open Access Journals (Sweden)

    Kaori Ishii

    2014-07-01

    Full Text Available Differences in recess physical activity (PA according to perceived school environment among elementary school children were examined. Participants were 103 children from two schools in Japan. PA was measured using accelerometry for seven consecutive days. Time spent in sedentary or PA (light, moderate, or vigorous during their morning recess (25 min and lunch recess (15 min was determined. The School Physical Activity Environment Scale (three factors: equipment, facility, and safety was used to investigate perceived school environment. Environmental factor scores were assigned to low or high groups for each factor by median. An analysis of covariance, with grade as the covariate, was conducted separately by gender to examine differences in PA between two groups. During lunch recess, boys in the high-equipment group spent significantly more time in moderate PA (high: 1.5; low: 0.8 min whereas girls in this group spent less time in light PA (9.3, 11.0. Boys in the high-facility group spent significantly less time in sedentary (2.3, 3.9 and more time in vigorous PA (2.4, 1.4 during lunch recess, and girls spent more time in moderate (2.1, 1.2 and vigorous PA (1.9, 1.3 during morning recess. Differences were observed in recess PA according to school environment perceptions. The present study may be useful for further intervention studies for the promotion of PA during recess.

  6. Unemployment of Non-western Immigrants in the Great Recession

    NARCIS (Netherlands)

    Cervený, J.; van Ours, J.C.

    2013-01-01

    Abstract: This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007 to February 2013 finding that the Great Recession affected unemployment rates

  7. Congenital symmastia revisited

    DEFF Research Database (Denmark)

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

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  8. Symptomatic lipid storage in carriers for the PNPLA2 gene.

    Science.gov (United States)

    Janssen, Mirian C H; van Engelen, Baziel; Kapusta, Livia; Lammens, Martin; van Dijk, Martin; Fischer, Judith; van der Graaf, Marinette; Wevers, Ron A; Fahrleitner, Manuela; Zimmermann, Robert; Morava, Eva

    2013-08-01

    Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with associated cardiac disease, myopathy and frequent infections, but without ichthyosis. Here we describe the clinical and biochemical characteristics of a long surviving patient and report on four carrier family members with diverse clinical involvement. Interestingly, heterozygous patients show neutral lipid storage in muscle and in the keratocytes of the skin, Jordans' bodies, mild myopathy and frequent infections. Biochemical analysis of fibroblasts obtained from patients revealed increased triglyceride storage and reduced lipid droplet-associated triglyceride hydrolase activity. Together, our data implicate that the wild-type allele cannot fully compensate for the mutated dysfunctional allele of PNPLA2 leading to triglyceride accumulation in muscle and mild myopathy in PNPLA2 mutation carriers. The presence of neutral lipid droplets in the skin in PNPLA2 mutation carriers strengthens the link between NLSD and other neutral lipid storage diseases with ichthyosis.

  9. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  10. Unemployment of non-western immigrants in the Great Recession

    NARCIS (Netherlands)

    Cervený, J.; van Ours, J.C.

    2013-01-01

    This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007–February 2013 finding that the Great Recession affected unemployment rates of non-western

  11. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  12. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  13. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  14. [Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

    Science.gov (United States)

    Rodríguez, Amparo; Ezquieta, Begoña; Labarta, José Igancio; Clemente, María; Espino, Rafael; Rodriguez, Amaia; Escribano, Aranzazu

    2017-08-01

    Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy. Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

  15. Africa and global recessions: Options for reducing vulnerability in ...

    African Journals Online (AJOL)

    Africa and global recessions: Options for reducing vulnerability in future. ... It concludes that traditional or conventional, market-based approaches do not adequately explain the root causes of global recessions and that the dominant counter-cyclical Keynesian-type fiscal and monetary policies that characterised the ...

  16. Business Recovery Strategies in the Economic Crisis of Recession ...

    African Journals Online (AJOL)

    This paper examines Nigeria's theoretical economic foundation, the consequence of recession generally and specifically on the Gross Domestic Product (GDP) growth rate (2008-2010) and on companies together with customers reaction. Business recovery strategies for an upturn over the economic crisis of recession in ...

  17. Formal identity of gravitational and weakly interacting recession

    International Nuclear Information System (INIS)

    Muheim, J.T.

    1982-01-01

    The author discusses the construction of models using the five elementary constants esub(s), h/2π, G, c and ksub(B) which can produce a macro or micro world with exacticity. All physical processes in nature determine the gravitational universe recession. A diagram is presented comparing the gravitational and weakly interacting recession. The Big-Bang model is discussed. (A.N.K.)

  18. Alcohol use during the great recession of 2008-2009.

    Science.gov (United States)

    Bor, Jacob; Basu, Sanjay; Coutts, Adam; McKee, Martin; Stuckler, David

    2013-01-01

    The aim of this study was to assess changes in alcohol use in the USA during the Great Recession. Drinking participation, drinking frequency, drinking intensity, total alcohol consumption and frequency of binge drinking were assessed in a nationally representative sample of 2,050,431 US women and men aged 18 and older, interviewed between 2006 and 2010. The prevalence of any alcohol use significantly declined during the economic recession, from 52.0% in 2006-2007 to 51.6% in 2008-2009 (P Great Recession there was an increase in abstention from alcohol and a rise in frequent binging.

  19. The Indian Stock Market and the Great Recession

    Directory of Open Access Journals (Sweden)

    Arindam MANDAL

    2012-03-01

    Full Text Available This study analyzes the impact of the outbreak of the Great Recession of 2007 on the behavior of the Indian stock market. The SENSEX index of the Bombay Stock Exchange is analyzed for the prerecession period of January 2002 – November 2007 and the postrecession outbreak period of December 2007 – July 2010. Substantial increase in SENSEX return volatility observed during the post-recession outbreak period, whereas no substantial difference in returns between two periods is found. Also strong co-movements in returns and volatility are observed between the SENSEX and other major stock indexes during the post-recession period. Our results establish the dominance of global factors in influencing Indian stock market behavior during periods of economic turmoil.

  20. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  1. Not all infantile respiratory distress in winter is bronchiolitis: congenital lobar emphysema.

    Science.gov (United States)

    Taqvi, Laura; Griksaitis, Michael; Eastham, Katherine

    2011-10-20

    The authors report the case of a 4-week-old male infant presented during the winter period with respiratory distress. He had a 3 day history of cough and coryza, and a 2 day history of breathlessness and reduced feeding. He had evidence of tachypnoea, subcostal recession and hypoxia on examination. An initial diagnosis of bronchiolitis was made. The authors explore how the correct diagnosis of congenital lobar emphysema (CLE) was reached, highlighting key clinical signs and investigations. He had evidence of a hyperinflated right middle lobe, with collapse of right upper and lower lobes and left upper lobe with associated mediastinal shift on chest x-ray (CXR) and CT scan. He was referred to the regional Paediatric Cardiothoracic Centre where right middle lobectomy was performed with complete resolution of his respiratory distress and re-expansion of the compressed lobes on CXR. Current literature concerning CLE is reviewed.

  2. Performance Analysis of High-Speed Deep/Shallow Recessed Hybrid Bearing

    OpenAIRE

    Lei Wang; Shuyun Jiang

    2013-01-01

    The present paper proposes a theoretical analysis of the performance of deep/shallow recessed hybrid bearing. It is intended that, on the basis of the numerical results drawn from this study, appropriate shallow recess depth and width can be determined for use in the bearing design process. By adopting bulk flow theory, the turbulent Reynolds equation and energy equation are modified and solved numerically including concentrated inertia effects at the recess edge with different depth and widt...

  3. Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings

    International Nuclear Information System (INIS)

    Schulman, H.; Tsodikow, V.; Hertzanu, Y.; Einhorn, M.; Levy, Y.; Shorer, Z.

    2001-01-01

    Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). Aim: To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA. Materials and methods: In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. This has resulted in a group of 20 children being affected by this rare autosomal recessive HSAN. The skeletal surveys and CT scans of these 20 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. Results: All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly. Conclusions: CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life. (orig.)

  4. Congenital insensitivity to pain with anhidrosis (CIPA): the spectrum of radiological findings

    Energy Technology Data Exchange (ETDEWEB)

    Schulman, H.; Tsodikow, V.; Hertzanu, Y. [Dept. of Radiology, Soroka University Medical Centre, Beer-Sheva (Israel); Einhorn, M.; Levy, Y.; Shorer, Z. [Dept. of Pediatrics, Soroka University Medical Centre, Beer-Sheva (Israel)

    2001-10-01

    Background: Congenital insensitivity to pain with anhidrosis (CIPA) is an exceedingly rare, hereditary, sensory autonomic neuropathy (HSAN). Aim: To evaluate the various skeletal manifestations and cranial CT features in children affected by CIPA. Materials and methods: In the semidesert area of the Negev, the Bedouin tribes constitute a closed society where consanguineous marriages are the custom. This has resulted in a group of 20 children being affected by this rare autosomal recessive HSAN. The skeletal surveys and CT scans of these 20 Bedouin patients, 12 girls and 8 boys, ages ranging between 1 month and 8 years, were retrospectively analysed. Cranial CT scans were performed in ten children because of neonatal hypotonia and psychomotor retardation. The skeletal findings were classified as follows: fractures, joint deformities, joint dislocations, osteomyelitis, avascular necrosis and acro-osteolysis. Results: All 20 patients had fractures of the extremities and acro-osteolysis of the fingers. Six had joint deformities. Three children had recurrent hip joint dislocations and another three had avascular necrosis. Ten patients presented with osteomyelitis of the limbs, acetabulum and scapula. The cranial CT scans disclosed mild brain volume loss with some ventriculomegaly. Conclusions: CIPA is a severe autosomal recessive condition that leads to self-mutilation early in life and to fractures, osteomyelitis and limb amputation in older children. Mental retardation is common. Death from hyperpyrexia occurs in almost 20 % of patients in the first 3 years of life. (orig.)

  5. Cochlear implantation in children with congenital cytomegalovirus infection accompanied by psycho-neurological disorders.

    Science.gov (United States)

    Yamazaki, Hiroshi; Yamamoto, Rinko; Moroto, Saburo; Yamazaki, Tomoko; Fujiwara, Keizo; Nakai, Masako; Ito, Juichi; Naito, Yasushi

    2012-04-01

    Cochlear implantation was effective for deaf children with congenital cytomegalovirus (CMV) infection, but their cochlear implant (CI) outcomes were often impaired, depending on the types of CMV-associated psycho-neurological disorders. Evaluation of cognitive development and autistic tendency of implantees might be useful to predict their CI outcomes. To reveal the influence of CMV-associated psycho-neurological disorders on CI outcomes. This was a retrospective evaluation of 11 implantees with congenital CMV infection (CMV-CIs) and 14 implantees with autosomal recessive hearing loss (genetic-CIs). Nine of 11 CMV-CIs suffered from psycho-neurological disorders; one from attention deficit hyperactivity disorder, two from pervasive developmental disorder, and six from mental retardation. Aided hearing thresholds with CIs in the two groups did not differ, but two autistic and two mentally retarded CMV-CIs showed significantly low scores in speech discrimination tests. Language-Social (L-S) developmental quotients (DQs) evaluated by the Kyoto Scale of Psychological development were improved after the implantation in both groups, but the postoperative increase of L-S DQs was significantly smaller in the CMV-CIs than that of genetic-CIs. Interestingly, the postoperative L-S and Cognitive-Adaptive (C-A) DQs showed statistically significant correlation in all cases except for two autistic CMV-CIs whose L-S DQs were much lower than those expected from their C-A DQs.

  6. The diverse impacts of the great recession

    OpenAIRE

    Makoto Nakajima

    2013-01-01

    The Great Recession had a large negative impact on the U.S. economy. Asset prices, most notably stock and house prices, declined substantially, resulting in a loss in wealth for many American households. In this article, Makoto Nakajima documents how diverse households were affected in a variety of dimensions during the Great Recession, in particular between 2007 and 2009, using newly available data from the 2007-2009 Survey of Consumer Finances. He discusses why it is important to look at th...

  7. Ecologically unequal exchange, recessions, and climate change: A longitudinal study.

    Science.gov (United States)

    Huang, Xiaorui

    2018-07-01

    This study investigates how the ecologically unequal exchange of carbon dioxide emissions varies with economic recessions. I propose a country-specific approach to examine (1) the relationship between carbon dioxide emissions in developing countries and the "vertical flow" of exports to the United States; and (2) the variations of the relationship before, during, and after two recent economic recessions in 2001 and 2008. Using data on 69 developing nations between 2000 and 2010, I estimate time-series cross-sectional regression models with two-way fixed effects. Results suggest that the vertical flow of exports to the United States is positively associated with carbon dioxide emissions in developing countries. The magnitude of this relationship increased in 2001, 2009, and 2010, and decreased in 2008, but remained stable in non-recession periods, suggesting that economic recessions in the United States are associated with variations of ecologically unequal exchange. Results highlight the impacts of U.S. recessions on carbon emissions in developing countries through the structure of international trade. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Gender Differences in Mental Health Outcomes before, during, and after the Great Recession.

    Science.gov (United States)

    Dagher, Rada K; Chen, Jie; Thomas, Stephen B

    2015-01-01

    We examined gender differences in mental health outcomes during and post-recession versus pre-recession. We utilized 2005-2006, 2008-2009, and 2010-2011 data from the Medical Expenditure Panel Survey. Females had lower odds of depression diagnoses during and post-recession and better mental health during the recession, but higher odds of anxiety diagnoses post-recession. Males had lower odds of depression diagnoses and better mental health during and post-recession and lower Kessler 6 scores post-recession. We conducted stratified analyses, which confirmed that the aforementioned findings were consistent across the four different regions of the U.S., by employment status, income and health care utilization. Importantly, we found that the higher odds of anxiety diagnoses among females after the recession were mainly prominent among specific subgroups of females: those who lived in the Northeast or the Midwest, the unemployed, and those with low household income. Gender differences in mental health in association with the economic recession highlight the importance of policymakers taking these differences into consideration when designing economic and social policies to address economic downturns. Future research should examine the reasons behind the decreased depression diagnoses among both genders, and whether they signify decreased mental healthcare utilization or increased social support and more time for exercise and leisure activities.

  9. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    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.

  10. 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.

  11. The Great Recession and employee alcohol use: a U.S. population study.

    Science.gov (United States)

    Frone, Michael R

    2016-03-01

    This is the first study to examine broadly the overall net change in U.S. population estimates of alcohol use related to a recession--The Great Recession--among individuals who remain employed. The alcohol variables included drinker status, usual frequency and quantity of alcohol use, frequency of heavy drinking and intoxication, as well as contextual assessments of the frequency and quantity of alcohol use during the workday and after work. The moderating influence of gender, race, and age also was explored. Data for this repeated cross-sectional study were obtained from 2 national telephone surveys of U.S. workers. The first survey occurred prior to the Great Recession (2002-2003; N = 2,501), whereas the second survey occurred during and after the official end of the Great Recession (2008-2011; N = 2,581). The results revealed that the recession was related to a higher proportion of drinkers among middle-aged employees, but not among young employees. Gender and race did not moderate the relation of the recession to drinker status. Among drinkers, the recession was not related to usual alcohol use (frequency and quantity), but was positively related to the frequency of heavy drinking and intoxication. Further, the recession had a differential relation to the contextual alcohol measures. It was negatively related to the frequency and quantity of workday alcohol use, but was positively related to the frequency and quantity of afterwork alcohol use. Among drinkers, gender, race, and age did not moderate the relation of the recession to alcohol use. (c) 2016 APA, all rights reserved).

  12. Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

    Science.gov (United States)

    Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

    2017-08-01

    Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Management of gingival recession associated with orthodontic treatment: a case report.

    Science.gov (United States)

    Rana, Tarun Kumar; Phogat, Megha; Sharma, Tarun; Prasad, Narayana; Singh, Shailendra

    2014-07-01

    Many patients undergo orthodontic treatment for aesthetic improvement. It is well established that the patients who undergo orthodontic treatment have a high susceptibility to present plaque accumulation on their teeth because of the presence of brackets, wires and/or other orthodontic elements on the teeth surfaces with which the oral hygiene procedures might be more difficult. The orthodontic treatment is a double-action procedure regarding the periodontal tissues which may be very meaningful in increasing the periodontal health status and may be a harmful procedure which can be followed by several types of periodontal complications. There is a strong correlation between the severity and extent of gingival recessions and the orthodontic treatment suggesting that orthodontic tooth movement may lead to gingival recession. The principal objective in the treatment of gingival recession is to cover the exposed root surfaces to improve aesthetics and to reduce hypersensitivity. Different soft tissue grafting procedures have been proposed in the treatment of gingival recessions. Subepithelial connective tissue graft is a reliable method for treatment of gingival recession. The purpose of this case report was to illustrate the relationship between orthodontic therapy and gingival recession and to describe the management of this case.

  14. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  15. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  16. Hardships of the Great Recession and health: Understanding varieties of vulnerability

    Directory of Open Access Journals (Sweden)

    Julie A Kirsch

    2016-05-01

    Full Text Available The Great Recession of 2007–2009 is regarded as the most severe economic downturn since World War II. This study examined relationships between reported recession hardships and physical health in a national survey of American adults ( N  = 1275. Furthermore, education and psychological resources (perceived control, purpose in life, and conscientiousness were tested as moderators of the health impacts of the recession. A greater number of hardships predicted poorer health, especially among the less educated. Psychological resources interacted with education and hardships to predict health outcomes. Although typically viewed as protective factors, such resources became vulnerabilities among educationally disadvantaged adults experiencing greater recession hardships.

  17. Hardships of the Great Recession and health: Understanding varieties of vulnerability.

    Science.gov (United States)

    Kirsch, Julie A; Ryff, Carol D

    2016-01-01

    The Great Recession of 2007-2009 is regarded as the most severe economic downturn since World War II. This study examined relationships between reported recession hardships and physical health in a national survey of American adults ( N  = 1275). Furthermore, education and psychological resources (perceived control, purpose in life, and conscientiousness) were tested as moderators of the health impacts of the recession. A greater number of hardships predicted poorer health, especially among the less educated. Psychological resources interacted with education and hardships to predict health outcomes. Although typically viewed as protective factors, such resources became vulnerabilities among educationally disadvantaged adults experiencing greater recession hardships.

  18. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  19. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  20. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  1. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  2. 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.

  3. Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome.

    Science.gov (United States)

    Saneian, Hossein; Bahraminia, Emad

    2013-09-01

    Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease which is characterized by intractable diarrhea of infancy, failure to thrive, high fecal chloride, hypochloremia, hypokalemia, hyponatremia and metabolic alkalosis. In this case report, we present the first female and the second official case of CCD in Iran. A 15-month-old girl referred to our hospital due to failure to thrive and poor feeding. She had normal kidneys, liver and spleen. Treating her with Shohl's solution, thiazide and zinc sulfate did not result in weight gain. Consequently, pseudo-Bartter syndrome was suspected, she was treated with intravenous (IV) therapy to which she responded dramatically. In addition, hypokalemia resolved quickly. Since this does not usually happen in patients with the pseudo-Bartter syndrome, stool tests were performed. Abnormal level of chloride in stool suggested CCD and she was thus treated with IV fluid replacement, Total parentral nutrition and high dose of oral omeprazole (3 mg/kg/day). She gained 1 kg of weight and is doing fine until present. CCD is a rare hereditary cause of intractable diarrhea of infancy. It should be considered in infants with unknown severe electrolyte disturbances.

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

    African Journals Online (AJOL)

    2016-01-12

    Jan 12, 2016 ... Leaving Certificate married to two wives. The mother ... laboratory screening revealed the following: PCV - ... as the facilities for genetic analysis were not. 100 ... using lubrication with bland petrolatum as a universally.

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

    African Journals Online (AJOL)

    The infant was managed using stringent thermoregulation, optimal hydration, use of topical emollient and antibiotics. Although, the skin disorder resolved within fifteen days of treatment, the infant thereafter developed inguinoscrotal hernia and hydrocephalus necessitating surgical consult. The case is reported to highlight ...

  6. Students with Attention Deficit Hyperactivity Disorder Participating in Recess

    Science.gov (United States)

    Lucas, Matthew D.; Justice, Michael J.; Rosko, Kelly M.

    2014-01-01

    The participation of a student with Attention Deficit Hyperactivity Disorder (ADHD) in recess can often be both challenging and rewarding for the student and teacher. This paper will address common characteristics of children with ADHD and present basic solutions to improve the experience of these children in the recess setting. Initially, the…

  7. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease.

    Science.gov (United States)

    Ancliff, P J; Gale, R E; Liesner, R; Hann, I M; Linch, D C

    2001-11-01

    Severe congenital neutropenia (SCN) was originally described as an autosomal recessive disorder. Subsequently, autosomal dominant and sporadic forms of the disease have been recognized. All forms are manifest by persistent severe neutropenia and recurrent bacterial infection. In contrast, cyclical hematopoiesis is characterized by periodic neutropenia inter-spaced with (near) normal neutrophil counts. Recently, linkage analysis on 13 affected pedigrees identified chromosome 19p13.3 as the likely position for mutations in cyclical hematopoiesis. Heterozygous mutations in the ELA2 gene encoding neutrophil elastase were detected in all families studied. Further work also demonstrated mutations in ELA2 in sporadic and autosomal dominant SCN. However, all mutations described to date are heterozygous and thus appear to act in a dominant fashion, which is inconsistent with an autosomal recessive disease. Therefore, the current study investigated whether mutations in ELA2 could account for the disease phenotype in classical autosomal recessive SCN and in the sporadic and autosomal dominant types. All 5 exons of ELA2 and their flanking introns were studied in 18 patients (3 autosomal recessive, 5 autosomal dominant [from 3 kindreds], and 10 sporadic) using direct automated sequencing. No mutations were found in the autosomal recessive families. A point mutation was identified in 1 of 3 autosomal dominant families, and a base substitution was identified in 8 of 10 patients with the sporadic form, though 1 was subsequently shown to be a low-frequency polymorphism. These results suggest that mutations in ELA2 are not responsible for classical autosomal recessive Kostmann syndrome but provide further evidence for the role of ELA2 in SCN.

  8. Economic recession and fertility in the developed world.

    Science.gov (United States)

    Sobotka, Tomáš; Skirbekk, Vegard; Philipov, Dimiter

    2011-01-01

    This article reviews research on the effects of economic recessions on fertility in the developed world. We study how economic downturns, as measured by various indicators, especially by declining GDP levels, falling consumer confidence, and rising unemployment, were found to affect fertility. We also discuss particular mechanisms through which the recession may have influenced fertility behavior, including the effects of economic uncertainty, falling income, changes in the housing market, and rising enrollment in higher education, and also factors that influence fertility indirectly such as declining marriage rates. Most studies find that fertility tends to be pro-cyclical and often rises and declines with the ups and downs of the business cycle. Usually, these aggregate effects are relatively small (typically, a few percentage points) and of short durations; in addition they often influence especially the timing of childbearing and in most cases do not leave an imprint on cohort fertility levels. Therefore, major long-term fertility shifts often continue seemingly uninterrupted during the recession—including the fertility declines before and during the Great Depression of the 1930s and before and during the oil shock crises of the 1970s. Changes in the opportunity costs of childbearing and fertility behavior during economic downturn vary by sex, age, social status, and number of children; childless young adults are usually most affected. Furthermore, various policies and institutions may modify or even reverse the relationship between recessions and fertility. The first evidence pertaining to the recent recession falls in line with these findings. In most countries, the recession has brought a decline in the number of births and fertility rates, often marking a sharp halt to the previous decade of rising fertility rates.

  9. What Caused the Great Recession?

    OpenAIRE

    Homburg, Stefan

    2014-01-01

    This paper examines five possible explanations for the Great Recession of 2008 and 2009, using data for the United States and the eurozone. Of these five hypotheses, four are not supported by the data, while the fifth appears reasonable.

  10. Precession and recession of the rock'n'roller

    International Nuclear Information System (INIS)

    Lynch, Peter; Bustamante, Miguel D

    2009-01-01

    We study the dynamics of a spherical rigid body that rocks and rolls on a plane under the effect of gravity. The distribution of mass is non-uniform and the centre of mass does not coincide with the geometric centre. The symmetric case, with moments of inertia I 1 = I 2 3 , is integrable and the motion is completely regular. Three known conservation laws are the total energy E, Jellett's quantity Q J and Routh's quantity Q R . When the inertial symmetry I 1 = I 2 is broken, even slightly, the character of the solutions is profoundly changed and new types of motion become possible. We derive the equations governing the general motion and present analytical and numerical evidence of the recession, or reversal of precession, that has been observed in physical experiments. We present an analysis of recession in terms of critical lines dividing the (Q R , Q J ) plane into four dynamically disjoint zones. We prove that recession implies the lack of conservation of Jellett's and Routh's quantities, by identifying individual reversals as crossings of the orbit (Q R (t), Q J (t)) through the critical lines. Consequently, a method is found to produce a large number of initial conditions so that the system will exhibit recession.

  11. Using quantile regression to examine health care expenditures during the Great Recession.

    Science.gov (United States)

    Chen, Jie; Vargas-Bustamante, Arturo; Mortensen, Karoline; Thomas, Stephen B

    2014-04-01

    To examine the association between the Great Recession of 2007-2009 and health care expenditures along the health care spending distribution, with a focus on racial/ethnic disparities. Secondary data analyses of the Medical Expenditure Panel Survey (2005-2006 and 2008-2009). Quantile multivariate regressions are employed to measure the different associations between the economic recession of 2007-2009 and health care spending. Race/ethnicity and interaction terms between race/ethnicity and a recession indicator are controlled to examine whether minorities encountered disproportionately lower health spending during the economic recession. The Great Recession was significantly associated with reductions in health care expenditures at the 10th-50th percentiles of the distribution, but not at the 75th-90th percentiles. Racial and ethnic disparities were more substantial at the lower end of the health expenditure distribution; however, on average the reduction in expenditures was similar for all race/ethnic groups. The Great Recession was also positively associated with spending on emergency department visits. This study shows that the relationship between the Great Recession and health care spending varied along the health expenditure distribution. More variability was observed in the lower end of the health spending distribution compared to the higher end. © Health Research and Educational Trust.

  12. Adjustable recessions in horizontal comitant strabismus: A pilot study

    Directory of Open Access Journals (Sweden)

    Siddharth Agrawal

    2015-01-01

    Full Text Available Aim: To compare the surgical outcome of adjustable with the conventional recession in patients with horizontal comitant strabismus. Patients and Methods: A prospective comparative nonrandomized interventional pilot study was performed on patients with horizontal comitant strabismus. Fifty-four patients (27 in each group were allocated into 2 groups to undergo either adjustable suture (AS recession or non-AS (NAS recession along with conventional resection. The patients were followed up for 6 months. A successful outcome was defined as deviation ±10 prism diopters at 6 months. The results were statistically analyzed by Chi-square test, Fisher′s exact test, and Student′s t-test. Results: A successful outcome was found in 24 (88.8% patients in AS and 17 (62.9% in NAS group (P = 0.02. The postoperative adjustment was done in 13 (48.1% patients in AS group. There was one complication (tenon′s cyst in AS group. Conclusion: AS recession may be considered in all cooperative patients undergoing strabismus surgery for comitant deviations.

  13. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available 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

  14. Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation

    DEFF Research Database (Denmark)

    Mouritsen, Annette; Jørgensen, Niels; Main, Katharina M

    2010-01-01

    % of CAH adults and may already appear during childhood. Whether genotype sub-types can account for the development of TART has not been investigated previously. We therefore investigated this by coupling clinical information of CAH patients with information of their genetic mutation. In 49 male patients......Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with impaired function of the adrenal cortex caused by mutations in the CYP21A2 gene. Deficiency of steroid 21-hydroxylase accounts for 80-95% of CAH cases. Testicular adrenal rest tumours (TART) may be prevalent in up to 95...

  15. Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer.

    Science.gov (United States)

    Lanikova, Lucie; Lorenzo, Felipe; Yang, Chunzhang; Vankayalapati, Hari; Drachtman, Richard; Divoky, Vladimir; Prchal, Josef T

    2013-05-09

    Germline von Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3. It was proposed that different positions of loss-of-function VHL mutations are associated with VHL syndrome cancer predisposition and only C-terminal domain-encoding VHL mutations would cause polycythemia. However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C>T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. We show that VHL(P138L) has perturbed interaction with hypoxia-inducible transcription factor (HIF)1α. Further, VHL(P138L) protein has decreased stability in vitro. Similarly to what was reported in Chuvash polycythemia and some other instances of HIFs upregulation, VHL(P138L) erythroid progenitors are hypersensitive to erythropoietin. Interestingly, the level of RUNX1/AML1 and NF-E2 transcripts that are specifically upregulated in acquired polycythemia vera were also upregulated in VHL(P138L) granulocytes.

  16. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  17. Who Suffers during Recessions? NBER Working Paper No. 17951

    Science.gov (United States)

    Hoynes, Hilary W.; Miller, Douglas L.; Schaller, Jessamyn

    2012-01-01

    In this paper we examine how business cycles affect labor market outcomes in the United States. We conduct a detailed analysis of how cycles affect outcomes differentially across persons of differing age, education, race, and gender, and we compare the cyclical sensitivity during the Great Recession to that in the early 1980s recession. We present…

  18. Mining of lethal recessive genetic variation in Danish cattle

    DEFF Research Database (Denmark)

    Das, Ashutosh

    2015-01-01

    in fertility. The primary objective of this PhD projekt was to identify recessive lethal gentic variants in the main Danish dairy cattle breed. Holstein-Friesian utilzing next generation sequencing (NGS) data. This study shows a potential for the use of the NGS-based reverse genetic approach in identifying...... lethal or semi-lethal recessive gentic variation...

  19. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  20. Neonatal screening and a new cause of congenital central hypothyroidism

    Directory of Open Access Journals (Sweden)

    Toshihiro Tajima

    2014-09-01

    Full Text Available Congenital central hypothyroidism (C-CH is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the absence of other syndromes. Recently, deficiency of the immunoglobulin superfamily member 1 (IGSF1 has also been demonstrated to cause C-CH. IGSF1 is a plasma membrane glycoprotein highly expressed in the pituitary. Its physiological role in humans remains unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism. In addition, approximately 60% of patients also suffer a prolactin deficiency. Moreover, macroorchidism and delayed puberty are characteristic features. Thus, although the precise pathophysiology of IGSF1 deficiency is not established, IGSF1 is considered to be a new factor controlling growth and puberty in children.

  1. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

  2. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

    Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

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

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

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

  4. Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

    Science.gov (United States)

    Arcot Sadagopan, Karthikeyan; Battista, Robert; Keep, Rosanne B; Capasso, Jenina E; Levin, Alex V

    2015-06-01

    Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene. DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed. Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation. Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.

  5. The dorso-lateral recess of the hypothalamic ventricle in neonatal rats.

    Science.gov (United States)

    Menéndez, A; Alvarez-Uría, M

    1987-10-01

    Light and electron microscopy of the hypothalamic ventricle in neonatal rats demonstrate morphological specializations of the ventricular wall at the level of the premammillary region of the third ventricle. The morphological features are: (1) A ventricular recess that we have called the "hypothalamic dorso-lateral recess" (HDR). (2) The presence of intraventricular capillaries near the dorso-lateral recess. (3) The HDR possessing a specialized ependymal lining; this consists of non-ciliated cells with short microvilli and bleb-like processes. (4) The existence of cerebrospinal fluid-contacting neurons within the HDR. (5) The presence of numerous phagocytic supraependymal cells. The HDR is not found in adult rats. This indicates that the dorso-lateral recess may play a physiological role during development.

  6. Central osteosclerosis with trichothiodystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Wakeling, Emma L.; Brady, Angela F. [North West Thames Regional Genetics Service, Kennedy-Galton Centre, Level 8 V, North West London Hospitals NHS Trust, Watford Road, HAI 3UJ, Harrow, Middlesex (United Kingdom); Cruwys, Michele [Department of Paediatrics, Hillingdon Hospital, Hillingdon, Middlesex (United Kingdom); Suri, Mohnish [Clinical Genetics Service, City Hospital, Nottingham (United Kingdom); Aylett, Sarah E. [Neurosciences Unit, Great Ormond Street Hospital for Children NHS Trust, London (United Kingdom); Hall, Christine [Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London (United Kingdom)

    2004-07-01

    Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. We report a 7-year-old boy with TTD due to mutation in the XPD gene. The patient has classic features of this condition, including brittle, sulphur-deficient hair, ichthyosis, growth retardation and developmental delay. In addition, he has radiological evidence of progressive central osteosclerosis. Although similar radiological findings have previously been reported in a small number of patients, this association is not widely recognised. We review the radiological findings in this and other similar cases and discuss the natural history of these bony changes. (orig.)

  7. Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

    Directory of Open Access Journals (Sweden)

    Maria Arafah

    2011-01-01

    Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

  8. The dynamics of business investment following banking crises and normal recessions

    OpenAIRE

    Jannsen, Nils

    2015-01-01

    I empirically analyze the dynamics of business investment following normal recessions (declines in business investment that are not associated with banking crises) and banking crises. Using a panel of 16 advanced economies, I find evidence for significant non-linear trend reversion or bounce-back effects on the level of business investment following normal recessions, i.e., the deeper the previous recession was, the higher the growth rate of business investment will be. The trend reversion ef...

  9. A New Keynesian Perspective on the Great Recession

    OpenAIRE

    Peter N. Ireland

    2010-01-01

    With an estimated New Keynesian model, this paper compares the "Great Recession" of 2007-09 to its two immediate predecessors in 1990-91 and 2001. The model attributes all three downturns to a similar mix of aggregate demand and supply disturbances. The most recent series of adverse shocks lasted longer and became more severe, however, prolonging and deepening the Great Recession. In addition, the zero lower bound on the nominal interest rate prevented monetary policy from stabilizing the US ...

  10. The Indian Stock Market and the Great Recession

    OpenAIRE

    Arindam MANDAL; Prasun BHATTACHARJEE

    2012-01-01

    This study analyzes the impact of the outbreak of the Great Recession of 2007 on the behavior of the Indian stock market. The SENSEX index of the Bombay Stock Exchange is analyzed for the prerecession period of January 2002 – November 2007 and the postrecession outbreak period of December 2007 – July 2010. Substantial increase in SENSEX return volatility observed during the post-recession outbreak period, whereas no substantial difference in returns between two periods is...

  11. Recessive Resistance to Plant Viruses: Potential Resistance Genes Beyond Translation Initiation Factors

    Directory of Open Access Journals (Sweden)

    Masayoshi Hashimoto

    2016-10-01

    Full Text Available The ability of plant viruses to propagate their genomes in host cells depends on many host factors. In the absence of an agrochemical that specifically targets plant viral infection cycles, one of the most effective methods for controlling viral diseases in plants is taking advantage of the host plant’s resistance machinery. Recessive resistance is conferred by a recessive gene mutation that encodes a host factor critical for viral infection. It is a branch of the resistance machinery and, as an inherited characteristic, is very durable. Moreover, recessive resistance may be acquired by a deficiency in a negative regulator of plant defense responses, possibly due to the autoactivation of defense signaling. Eukaryotic translation initiation factor (eIF 4E and eIF4G and their isoforms are the most widely exploited recessive resistance genes in several crop species, and they are effective against a subset of viral species. However, the establishment of efficient, recessive resistance-type antiviral control strategies against a wider range of plant viral diseases requires genetic resources other than eIF4Es. In this review, we focus on recent advances related to antiviral recessive resistance genes evaluated in model plants and several crop species. We also address the roles of next-generation sequencing and genome editing technologies in improving plant genetic resources for recessive resistance-based antiviral breeding in various crop species.

  12. 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 © ...

  13. Overburndened and Underfunded: California Public Schools Amidst the Great Recession

    Directory of Open Access Journals (Sweden)

    Rhoda Freelon

    2012-06-01

    Full Text Available Since 2008, many nations, including the United States, have struggled with the effects of a global recession. The state of California has been particularly impacted by the Great Recession. Unemployment rates in California are among the highest in the United States, and a weak fiscal environment has forced deep cutbacks to a variety of state services. This study uses California as a case to explore the effects of economic crisis on public schools and the students they serve. The study draws on two years of survey and interview data with a representative sample of public school principals across California. The data show that, during the Great Recession, students have experienced growing social welfare needs that often shape their well-being and their performance in schools. We also find that the capacity of public schools to meet these needs and provide quality education has been eroded by budget cuts. This study finds that schools primarily serving low-income families have been hardest hit during the recession, in part because they cannot raise private dollars to fill the gap left by public sector cuts. The Great Recession thus has undermined educational quality while producing widening educational inequality in California.

  14. Hepatic hypervitaminosis A: a familial observation.

    Science.gov (United States)

    Sarles, J; Scheiner, C; Sarran, M; Giraud, F

    1990-01-01

    Four siblings with hepatic fibrosis are described. The liver damage in these patients was secondary to chronic ingestion of massive doses of vitamin A for congenital ichthyosis. Although the extrahepatic manifestations were helpful in the diagnosis of hypervitaminosis A, the distinctive features of hepatic histopathology were confirmatory. The plasma concentrations of vitamin A and retinol-binding protein were misleading. The recovery from the liver damage in these patients was slow despite a complete withdrawal of the vitamin A intake. These cases show the importance of hepatic vitamin A assessment in the diagnosis of hepatic fibrosis.

  15. Despite the hair failing, nails thrive…

    Directory of Open Access Journals (Sweden)

    Samipa Samir Mukherjee

    2017-01-01

    Full Text Available Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth. Pure hair and nail affecting ectodemal dysplasias are exceedingly rare in occurance and have been known to be associated with multiple abnormalities, such as keratoderma or ichthyosis, skeletal and hematological abnormalities, cardiac irregularities, mental or psychomotor retardation and cataracts. We herein report a case of hypotrichosis with trichorrhexis nodosa and twenty nail dystrophy- a hypohidrotic ectodermal dysplasia variant.

  16. 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.

  17. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  18. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

    NARCIS (Netherlands)

    Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

    2016-01-01

    Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

  19. Pericardial sinuses and recesses effusion of 16-slice helical CT imaging and anatomic correlation

    International Nuclear Information System (INIS)

    Lu Chunyan; Yang Zhigang; Zhou Xiangping; Yu Jianqun; Zhu Jie; Yang Kaiqing

    2007-01-01

    Objective: To evaluate the CT features and implications of the pericardial sinuses and recesses effusion by combining the sectional cadavers and 16 multi-slice CT (MSCT) reformation. Methods: The anatomy and communication of the pericardial sinuses and recesses on the axial, coronal and saggital sectional cadavers (respectively 1 case), and the morphologic features on MSCT reformatted images in 104 patients were observed. The detection rate of effusion was analyzed. Results: The sectional cadavers and CT images showed that the pericardial sinuses and recesses were formed by the reflections of the pericardium on the root of the great vessels. The detection rate of the sinuses and recesses was lower in small effusion than in moderate and large effusion (P<0.05). The superior aortic recess was the most common recess for pericardial effusion. Conclusion: The MSCT reformatted images can show the morphologic features of pericardial sinuses and recesses effusion and communications with the pericardial cavity, help differentiate pericardial effusion from other mediastinal or pericardial lesions. (authors)

  20. Andhidrotic ectodermal dysplasia-autosomal recessive form

    Directory of Open Access Journals (Sweden)

    Inamadar Arun

    1994-01-01

    Full Text Available Anhidrotic ectodermal dysplasia with classical features in 2 sisters is reported. The mode of inheritance in these seems to be autosomal recessive; which is a very rare occurrence.

  1. The role of high-resolution CT in cholesteatoma involving the supratubal recess

    International Nuclear Information System (INIS)

    Funai, Hiroaki; Yabe, Toshie; Kase, Yasuhiro; Kitahara, Nobuo; Horiuchi, Koji; Yano, Jun; Ushijima, Tatsujiro; Iinuma, Toshitaka

    1987-01-01

    Operative findings of the supratubal recess were examined in the 30 patients with acquired cholesteatoma. They were compared with findings of high-resolution CTs (HRCTs) obtained preoperatively. Thus the role of HRCT in cholesteatoma involving the supratubal recess were evaluated. HRCTs of 172 ears without otitis media and 65 ears with tubotympanic type otitis media were analyzed as control. The HRCT has proved to provide excellent informations regarding the presence of cholesteatoma in the supratubal recess. Diagnostic points were as follows. (1) Destruction of the ''cog''. (2) Erosion or destruction of surrounding bony structures, for example, facial canal, tympanic tegmen. (3) Soft tissue density in the supratubal recess. (author)

  2. Aetiology and severity of gingival recession in an adult population sample in Greece

    Directory of Open Access Journals (Sweden)

    Nikolaos Andreas Chrysanthakopoulos

    2011-01-01

    Full Text Available Background: Gingival recession is the most common and undesirable condition of the gingiva. The aim of study was to investigate the aetiology and severity of gingival recession in a Greek adult population sample. Methods : The study was performed on 165 males and 179 females, 18-68 years old who sought dental treatment in a private dental practice and showed gingival recession. All subjects were clinically examined and answered questions regarding their oral hygiene habits such as the type of toothbrush, frequency of brushing and method of brushing. The association between gingival recession and the following parameters was assessed: plaque score, gingival score and tooth position. Statistical analysis of the results was accomplished using chi-square test (α = 0.05. Results: The majority (79.4% of the patients showed grade I gingival recession and 15.3% showed grade II gingival recession. The maxillary 1 st and 2 nd molars (35.3% and the mandibular 1 st and 2 nd molars (28.7% were the teeth most frequently affected by root surface exposure. Patients with sub-gingival calculus, bacterial plaque and gingival inflammation (P < 0.05, malpositioned teeth (P < 0.001, horizontal brushing method, medium type of toothbrush (P < 0.001 and brushing once daily (P < 0.001 appeared to be the most common precipitating aetiological factor for gingival recession. Conclusion: According to the results of the present study, gingival recession was the result of more than one factor acting together. Horizontal brushing method, usage of medium type toothbrush and tooth brushing once daily were found to be more associated with gingival recession.

  3. Newly diagnosed congenital factor VII deficiency and utilization of recombinant activated factor VII (NovoSeven®)

    Science.gov (United States)

    Bartosh, Nicole S; Tomlin, Tara; Cable, Christian; Halka, Kathleen

    2013-01-01

    This case report presents a newly diagnosed congenital factor VII deficiency treated with recombinant activated factor VII (rFVIIa). Congenital factor VII deficiency is a rare autosomal-recessive bleeding disorder that occurs in fewer than 1/500,000 persons. Its presentation can vary from epistaxis to hemarthroses and severe central nervous system bleeding, and correlates poorly with factor VII levels. Our patient had not had a significant hemostatic challenge prior to his presentation and therefore never had any symptomatology suggestive of this disease. He was treated with rFVIIa, and was able to undergo repair of his fractures without bleeding. Case report A 19-year-old African-American male presented to the emergency room after an altercation that resulted in significant trauma. He sustained bilateral mandibular angle fractures and orbital floor fractures, requiring urgent surgical correction. On initial evaluation, he was noted to have a prolonged prothrombin time of 40.1 seconds, with an International Normalized Ratio of 4.0, a normal activated partial thromboplastin time of 29.9 seconds, and a platelet count of 241. After receiving vitamin K and fresh frozen plasma, he was taken to the operating room for a temporary rigid maxillomandibular fixation. A 1:1 mixing study with normal plasma corrected the prothrombin time (decreasing from 40.7 to 14.7 seconds) and a factor VII assay revealed 5% of the normal factor VII level. The patient was diagnosed with congenital factor VII deficiency. Due to his coagulopathy and the extensive surgical correction needed, rFVIIa was administered and surgery was accomplished without hemorrhagic sequelae. Conclusion This case report and review describes a rare congenital disease, the history of rFVIIa use, and its mechanism. rFVIIA use in our patient provided a treatment option that allowed the necessary surgical correction, but further prospective studies on dose optimization would ensure adequate dosing with minimal risk of

  4. The Permanent Effects of Recessions on Child Health: Evidence from Peru

    OpenAIRE

    Jorge M. Agüero; Martín Valdivia

    2010-01-01

    We explore the permanent effects that recessions have on health-related outcomes of mothers and children in Peru. To account for possible self-selection in giving birth during recessions, we compare the infant mortality rates of siblings born in different phases of the economic cycle. A 1 percent decline in GDP per capita is associated with an increase in infant mortality rates between 0.30 and 0.39 percent. We find evidence that recessions also have a negative effect on long-term health meas...

  5. Giving Children a Voice: Exploring Qualitative Perspectives on Factors Influencing Recess Physical Activity

    Science.gov (United States)

    Pawlowski, Charlotte Skau; Schipperijn, Jasper; Tjørnhøj-Thomsen, Tine; Troelsen, Jens

    2018-01-01

    Facilitators and barriers to recess physical activity are not well understood. To date, research on recess physical activity has predominantly focused on quantitative measures typically focusing on a narrow set of predefined factors, often constructed by adults. To really understand the factors affecting recess physical activity it is crucial to…

  6. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  7. Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia

    NARCIS (Netherlands)

    Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C.; Serra, Giovanni

    2003-01-01

    We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary

  8. The Great Recession and risk for child abuse and neglect.

    Science.gov (United States)

    Schneider, William; Waldfogel, Jane; Brooks-Gunn, Jeanne

    2017-01-01

    This paper examines the association between the Great Recession and four measures of the risk for maternal child abuse and neglect: (1) maternal physical aggression; (2) maternal psychological aggression; (3) physical neglect by mothers; and (4) supervisory/exposure neglect by mothers. It draws on rich longitudinal data from the Fragile Families and Child Wellbeing Study, a longitudinal birth cohort study of families in 20 U.S. cities (N = 3,177; 50% African American, 25% Hispanic; 22% non-Hispanic white; 3% other). The study collected information for the 9-year follow-up survey before, during, and after the Great Recession (2007-2010). Interview dates were linked to two macroeconomic measures of the Great Recession: the national Consumer Sentiment Index and the local unemployment rate. Also included are a wide range of socio-demographic controls, as well as city fixed effects and controls for prior parenting. Results indicate that the Great Recession was associated with increased risk of child abuse but decreased risk of child neglect. Households with social fathers present may have been particularly adversely affected. Results also indicate that economic uncertainty during the Great Recession, as measured by the Consumer Sentiment Index and the unemployment rate, had direct effects on the risk of abuse or neglect, which were not mediated by individual-level measures of economic hardship or poor mental health.

  9. Playing fair: the contribution of high-functioning recess to overall school climate in low-income elementary schools.

    Science.gov (United States)

    London, Rebecca A; Westrich, Lisa; Stokes-Guinan, Katie; McLaughlin, Milbrey

    2015-01-01

    Recess is a part of the elementary school day with strong implications for school climate. Positive school climate has been linked to a host of favorable student outcomes, from attendance to achievement. We examine 6 low-income elementary schools' experiences implementing a recess-based program designed to provide safe, healthy, and inclusive play to study how improving recess functioning can affect school climate. Data from teacher, principal, and recess coach interviews; student focus groups; recess observations; and a teacher survey are triangulated to understand the ways that recess changed during implementation. Comparing schools that achieved higher- and lower-functioning recesses, we link recess functioning with school climate. Recess improved in all schools, but 4 of the 6 achieved a higher-functioning recess. In these schools, teachers and principals agreed that by the end of the year, recess offered opportunities for student engagement, conflict resolution, pro-social skill development, and emotional and physical safety. Respondents in these four schools linked these changes to improved overall school climate. Recess is an important part of the school day for contributing to school climate. Creating a positive recess climate helps students to be engaged in meaningful play and return to class ready to learn. © 2014, American School Health Association.

  10. The 2008-2009 Great Recession and employment outcomes among older workers.

    Science.gov (United States)

    Axelrad, Hila; Sabbath, Erika L; Hawkins, Summer Sherburne

    2018-03-01

    This study examined whether economic changes related to the 2008-2009 Recession were associated with employment status and job quality indicators among older workers in Europe and Israel. Data were derived from 4917 respondents (16,090 observations both before and after the recession) from 13 countries who participated in the Survey of Health, Ageing and Retirement in Europe. Annual data on gross domestic product (GDP) per capita, life expectancy, and quarterly unemployment rates were assigned to employment assessments from 2004 to 2013. Using difference-in-differences models, we assessed the recession's implications on individual employment outcomes, while isolating cyclical variation within countries and individual changes over time. Among older workers, decreases in GDP were associated with an increase in the likelihood of being unemployed and a decrease in the likelihood of being retired. An increasing country-level unemployment rate had a significant effect on aspects of job quality: lower prospects for job advancement, lower job security, and higher job satisfaction. Economic recessions are thus negatively associated with employment outcomes for older workers. However, malleable policy-related factors such as longer tenure and improved general health can limit the negative employment and job quality outcomes following a recession.

  11. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

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

  12. 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

  13. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

    OpenAIRE

    Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P.; Rogaeva, Ekaterina A.; St George-Hyslop, Peter H.; Bernardi, Giorgio; Kawarai, Toshitaka

    2010-01-01

    The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite ...

  14. Precarious Slopes? The Great Recession, Federal Stimulus, and New Jersey Schools. Working Paper #02-12

    Science.gov (United States)

    Chakrabarti, Rajashri; Sutherland, Sarah

    2012-01-01

    While sparse literature exists investigating the impact of the Great Recession on various sectors of the economy, there is virtually no research that studies the effect of the Great Recession, or past recessions, on schools. This paper starts to fill the void. Studying school funding during the recession is of paramount importance because schools…

  15. Brain imaging findings of patients with congenital cataracts, facial dysmorphism neuropathy syndrome

    International Nuclear Information System (INIS)

    Zlatareva, D.; Penev, L.; Hadjidekov, V.; Chamova, T.; Guergeltcheva, V.; Tournev, I.; Tournev, I.; Bojinova, V.; Kaprelian, A.; Tzoneva, D.

    2012-01-01

    Congenital cataracts, facial dysmorphism neuropathy (CCFDN) syndrome is a rare genetic disorder of autosomal recessive inheritance, observed in patients of Gypsy ancestry. All patients are homozygous for the same mutation in the CTDP1 gene mapping to 18qter. The clinical manifestations of the disease include congenital cataracts, facial dysmorphism, peripheral neuropathy due to primary hypomyelination, intellectual impairment and involvement of central nervous system.The aim of this study is to analyze CNS magnetic resonance imaging findings of patients with CCFDN syndrome and to apply severity score system. MRI of 20 patients (10 children - 4 girls and 6 boys and 10 adults - 6 women and 4 men with CCFDN was performed on 1,5T unit. We apply severity score system (previously used for metachromatic leukodystrophy) to evaluate patients with CCFDN which was adapted to the changes observed in CCFDN patients. This score system assessed WM involvement, as well as the presence of cerebral and cerebellar atrophy. We have found pathologic findings in 19 patients (95%). White matter hyperintensities were found in 18 and cerebral atrophy in 18 patients. The severity score have varied from 0 to 18 points. In contrast to previous studies we have found higher frequency of white matter hyperintensities. The findings are more prominent with patients' age. The most common MRI findings are cerebral atrophy and periventricular hyperintensities. This study gives the first detailed description of MRI findings in CCFDN syndrome patients where severity score system was applied. The score system could be applied in follow-up studies to evaluate progression of CNS findings. (authors)

  16. Algebra, Home Mortgages, and Recessions

    Science.gov (United States)

    Mariner, Jean A. Miller; Miller, Richard A.

    2009-01-01

    The current financial crisis and recession in the United States present an opportunity to discuss relevant applications of some topics in typical first-and second-year algebra and precalculus courses. Real-world applications of percent change, exponential functions, and sums of finite geometric sequences can help students understand the problems…

  17. 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.

  18. Congenital hyperinsulinism: current trends in diagnosis and therapy

    Directory of Open Access Journals (Sweden)

    Bellanné-Chantelot Christine

    2011-10-01

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

  19. COMPETITIVE DYNAMICS AND EARLY MOVER ADVANTAGES UNDER ECONOMIC RECESSIONS

    Directory of Open Access Journals (Sweden)

    Roberto Vassolo

    2017-02-01

    Full Text Available In light of the recent macroeconomic instability in global markets, we examine the evolution of competitive dynamics and firm profitability when industries are subject to recessions. Although ordinary intuition leads most to view recessions as harmful, we highlight conditions under which they enhance the relative value of industry-level supply-side isolating mechanisms, thereby affording early movers significant and sustainable profit advantages vis-à-vis laggards. We observe that the distribution of firm size within the industry switches from a bi-modal distribution (i.e., one dominated by both small and large firms to a right-skewed one (i.e., dominated mostly by large firms in these contexts, thereby signaling the rise of important opportunities in the form of less rivalrous competitive contexts for survivors of recessions. We derive our results from formal modeling and multiple simulation runs.

  20. Marketing strategies and tactics in a period of recession

    Directory of Open Access Journals (Sweden)

    George J. Avlonitis

    2016-03-01

    Full Text Available Recession is an extremely difficult period for most companies. Especially when a recession has universal dimensions, many companies find themselves unprepared to face great challenges. While marketing in good times has a long-term focus, a broad scope, it is benefits- and opportunities-driven and proactive, in bad times it has a short-term focus, limited and narrow scope, it is cost-and sales-driven and reactive. Panic is not the right reaction. Such difficult times should be overcome through methodical and well planned actions. After all, research has shown that those companies that take a proactive stance and treat the recession as an opportunity are likely to come out of the crisis stronger than before. Specific marketing activities have been proved to be beneficial to companies during a downturn. Below we analyze, ten marketing survival strategies and tactics.

  1. 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.

  2. THE FLIP SIDE OF THE U.S. ECONOMIC RECESSION 2007-09

    Directory of Open Access Journals (Sweden)

    Behrouz Tabrizi

    2011-01-01

    Full Text Available This paper is an attempt to translate economic figures and indices into the living conditions of people who are behind the statistics of the U.S. economic recession, which officially began in December 2007 and ended in June 2009. The pathology of the Great Recession began with the financial shock, which resulted from the buildup of financial mischief since the 1980s, and the burst of its real estate bubble by 2007. A recession is a man-made tragedy with a large human cost. This paper addresses this flip side of the current economic crisis by examining its human consequences on different social classes and groups. A breakdown of various data proves that the working class, the majority in U.S. society, suffers most from the recession, and yet, some amongst them even more than others, depending upon their social status with regard to education, race, and age.

  3. Unemployment of Non-western Immigrants in the Great Recession

    OpenAIRE

    Cerveny, J.; Ours, J.C. van

    2013-01-01

    Abstract: This paper examines whether unemployment of non-western immigrant workers in the Netherlands was disproportionally affected by the Great Recession. We analyze unemployment data covering the period November 2007 to February 2013 finding that the Great Recession affected unemployment rates of non-western immigrant workers in absolute terms more than unemployment rates of native workers. However, in relative terms there is not much of a difference. We also find that the sensitivity of ...

  4. POSSIBLE RECESSION CURVE APPLICATIONS FOR RETENTION EVALUATION

    Directory of Open Access Journals (Sweden)

    Daniel Liberacki

    2015-11-01

    Full Text Available The objective of the article was to present possible applications of recession flow curve in a small lowland watershed retention discharge size evaluation. The examined woodland micro catchment area of 0.52 sq km is located in Puszcza Zielonka in central Wielkopolska. The Hutka catchment is typically woody with high retention abilities. The catchment of the Hutka watercourse is forested in 89%, the other 11% is covered by swamps and wasteland. The predominant sites are fresh mixed coniferous forest (BMśw, fresh coniferous forest (Bśw and alder carr forest (Ol. Landscape in catchment is characterized by a large number of interior depressions, filled partly with rainwater or peatbogs, with poorly developed natural drainage. The watercourses do not exceed 1 km in length, the mean width is approx. 0.5 m, while mean depth ranges from 0.2 to 0.3 m. During hydrological research conducted in 1997/1998–1999/2000, 35 major (characteristic raised water stages were observed in Hutka after substantial precipitation. The recession curve dating from 18–24 September 2000 has the α and n rates nearest to average. Comparing the model curve and the curve created by observing watercourse flow, one can notice their resemblance and that they have similar ordinate values as well as shape. In the case of other recession curves, the maximum differences of ordinate values are also about 0.1–0.2 l/s/km2. The measuured α and n rates do not reveal any regularities. There are no significant statistical Horton model parameter (for recession flow curves dependencies between α and n and e.g. initial flows (Qo or the whole period of high water waves (Qp. Consequently, calculated relation between these parameters is only an approximation for the general evaluation of the retention discharge in the catchment area towards retention with flow function.

  5. Semiconductor structure and recess formation etch technique

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Bin; Sun, Min; Palacios, Tomas Apostol

    2017-02-14

    A semiconductor structure has a first layer that includes a first semiconductor material and a second layer that includes a second semiconductor material. The first semiconductor material is selectively etchable over the second semiconductor material using a first etching process. The first layer is disposed over the second layer. A recess is disposed at least in the first layer. Also described is a method of forming a semiconductor structure that includes a recess. The method includes etching a region in a first layer using a first etching process. The first layer includes a first semiconductor material. The first etching process stops at a second layer beneath the first layer. The second layer includes a second semiconductor material.

  6. Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.

    Science.gov (United States)

    Wang, Haicui; Salter, Claire G; Refai, Osama; Hardy, Holly; Barwick, Katy E S; Akpulat, Ugur; Kvarnung, Malin; Chioza, Barry A; Harlalka, Gaurav; Taylan, Fulya; Sejersen, Thomas; Wright, Jane; Zimmerman, Holly H; Karakaya, Mert; Stüve, Burkhardt; Weis, Joachim; Schara, Ulrike; Russell, Mark A; Abdul-Rahman, Omar A; Chilton, John; Blakely, Randy D; Baple, Emma L; Cirak, Sebahattin; Crosby, Andrew H

    2017-11-01

    The presynaptic, high-affinity choline transporter is a critical determinant of signalling by the neurotransmitter acetylcholine at both central and peripheral cholinergic synapses, including the neuromuscular junction. Here we describe an autosomal recessive presynaptic congenital myasthenic syndrome presenting with a broad clinical phenotype due to homozygous choline transporter missense mutations. The clinical phenotype ranges from the classical presentation of a congenital myasthenic syndrome in one patient (p.Pro210Leu), to severe neurodevelopmental delay with brain atrophy (p.Ser94Arg) and extend the clinical outcomes to a more severe spectrum with infantile lethality (p.Val112Glu). Cells transfected with mutant transporter construct revealed a virtually complete loss of transport activity that was paralleled by a reduction in transporter cell surface expression. Consistent with these findings, studies to determine the impact of gene mutations on the trafficking of the Caenorhabditis elegans choline transporter orthologue revealed deficits in transporter export to axons and nerve terminals. These findings contrast with our previous findings in autosomal dominant distal hereditary motor neuropathy of a dominant-negative frameshift mutation at the C-terminus of choline transporter that was associated with significantly reduced, but not completely abrogated choline transporter function. Together our findings define divergent neuropathological outcomes arising from different classes of choline transporter mutation with distinct disease processes and modes of inheritance. These findings underscore the essential role played by the choline transporter in sustaining acetylcholine neurotransmission at both central and neuromuscular synapses, with important implications for treatment and drug selection. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  7. Educational series in congenital heart disease:Congenital left-sided heart obstruction

    OpenAIRE

    Carr, Michelle; Curtis, Stephanie; Marek, Jan

    2018-01-01

    Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

  8. Breast and cervical screening by race/ethnicity: comparative analyses before and during the Great Recession.

    Science.gov (United States)

    King, Christopher J; Chen, Jie; Garza, Mary A; Thomas, Stephen B

    2014-04-01

    Traditionally, economic recessions have resulted in decreased utilization of preventive health services. To explore racial and ethnic differences in breast and cervical cancer screening rates before and during the Great Recession. The Medical Expenditure Panel was the source for identifying 10,894 women, ages 50-74 for breast screening and 19,957 women, ages 21-65 for cervical screening. Survey years included 2004-2005 and 2009-2010. Dependent variables were as follows: 1) receipt of mammogram within the past 2 years; and 2) receipt of a Pap smear within the past 3 years. The interaction of the recession and the likelihood of screening between whites and minorities was analyzed. Multivariate regressions were applied to estimate the likelihood of screening for the two time periods while controlling for a recession variable. Nationally, breast and cervical cancer screening rates dropped during the recession period; white women contributed most to the decline. However, there were significant improvements in timely screening for both cancers among Hispanics during the recession period. After controlling for the recession, African American women were more likely to have timely screenings compared to white women. Screening rates during the recession were lowest in the South, Midwest and West. There was a national reduction in the percentages of women who obtained timely breast and cervical screenings during the Great Recession. Outreach efforts are needed to ensure that women who were not screened during the recession are screened. Widespread education about the Affordable Care Act may be helpful. Copyright © 2014 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

  9. Financial Strain and Mental Health Among Older Adults During the Great Recession.

    Science.gov (United States)

    Wilkinson, Lindsay R

    2016-07-01

    The economic recession has garnered the interest of many scholars, with much attention being drawn to how the recession has affected labor force participation, household wealth, and even retirement decisions. Certainly, the Great Recession has influenced the financial well-being of older adults, but has it had discernible effects on mental health? This study draws on 5,366 respondents from the Health and Retirement Study (2006-2010) to examine objective and subjective measures of financial well-being in the period surrounding the Great Recession. Guided by cumulative inequality theory, this research investigates whether the economic downturn contributed to worsening anxiety and depressive symptoms over a 4-year period. Results from linear fixed effects models reveal that decreases in objective financial resources were associated with increased financial strain during the Great Recession. Unlike the objective indicators, however, financial strain was a strong and robust predictor of worsening mental health between 2006 and 2010. Building on prior research, this study elucidates the factors that shape financial strain and provides evidence that the Great Recession not only affected the financial well-being of older adults but also had adverse effects on mental health. © The Author 2016. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  10. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.

    Science.gov (United States)

    Khattab, Ahmed; Yuen, Tony; Al-Malki, Sultan; Yau, Mabel; Kazmi, Diya; Sun, Li; Harbison, Madeleine; Haider, Shozeb; Zaidi, Mone; New, Maria I

    2016-01-01

    Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is caused by the autosomal recessive inheritance of mutations in the gene CYP21A2. CYP21A2 mutations lead to variable impairment of the 21-hydroxylase enzyme, which, in turn, is associated with three clinical phenotypes, namely, salt wasting, simple virilizing, and nonclassical CAH. However, it is known that a given mutation can associate with different clinical phenotypes, resulting in a high rate of genotype-phenotype nonconcordance. We aimed to study the genotype-phenotype nonconcordance in a family with three siblings affected with nonclassical CAH. All had hormonal evidence of nonclassical CAH, but this phenotype could not be explained by the genotype obtained from commercial CYP21A2 genetic testing, which revealed heterozygosity for the maternal 30 kb deletion mutation. We performed Sanger sequencing of the entire CYP21A2 gene in this family to search for a rare mutation that was not covered by commercial testing and found in the three siblings a second, rare c.1097G>A (p.R366H) mutation in exon 8. Computational modeling confirmed that this was a mild mutation consistent with nonclassical CAH. We recommend that sequencing of entire genes for rare mutations should be carried out when genotype-phenotype nonconcordance is observed in patients with autosomal recessive monogenic disorders, including CAH. © 2015 New York Academy of Sciences.

  11. The Ecology of Student Retention: Undergraduate Students and the Great Recession

    Science.gov (United States)

    Mendoza, Pilar; Malcolm, Zaria; Parish, Nancy

    2015-01-01

    This study investigated qualitatively how undergraduate students experienced the Great Recession at a flagship university in the South Eastern of United States and how this experience relates to their retention. Results indicate that the Great Recession has significantly impacted students' engagement and commitments. We argue that student…

  12. Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

    Directory of Open Access Journals (Sweden)

    Dayananda Kumar Rajanna

    2013-01-01

    Full Text Available Autosomal recessive polycystic kidney disease (ARPKD is one of the most common inheritable disease manifesting in infancy and childhood with a frequency of 1:6,000 to 1:55,000 births. The patient in her second trimester presented with a history of amenorrhea. Ultrasound examination revealed bilateral, enlarged, hyperechogenic kidneys, placentomegaly, and severe oligohydramnios. The pregnancy was terminated. An autopsy was performed on the fetus. Both the kidneys were found to be enlarged and the cut surface showed numerous cysts. The liver sections showed changes due to fibrosis. The final diagnosis of autosomal recessive polycystic kidney disease was made based on these findings. In this article, we correlate the ante-natal ultrasound and histopathological findings in autosomal recessive polycystic kidney disease.

  13. The Great Recession and the risk for child maltreatment.

    Science.gov (United States)

    Brooks-Gunn, Jeanne; Schneider, William; Waldfogel, Jane

    2013-10-01

    This study draws on the Fragile Families and Child Wellbeing Study (N=2,032), a birth cohort study of families with children from 20 U.S. cities. Interviews occurred between August 2007, and February 2010, when the children were approximately 9 years old. Macro-economic indicators of the Great Recession such as the Consumer Sentiment Index and unemployment and home foreclosure rates were matched to the data to estimate the links between different measures of the Great Recession and high frequency maternal spanking. We find that the large decline in consumer confidence during the Great Recession, as measured by the Consumer Sentiment Index, was associated with worse parenting behavior. In particular, lower levels of consumer confidence were associated with increased levels of high frequency spanking, a parenting behavior that is associated with greater likelihood of being contacted by child protective services. Copyright © 2013 Elsevier Ltd. All rights reserved.

  14. Psychological predictors of children' s recess physical activity motivation and behavior.

    Science.gov (United States)

    Stellino, Megan Babkes; Sinclair, Christina D

    2013-06-01

    This study explored the relationship between children's basic psychological needs satisfaction at recess, level of recess physical activity motivation (RPAM), and recess physical activity (RPA). Fifth-grade children (N = 203; 50.2% boys; 71.7% healthy-weight) completed measures of age, gender, basic psychological need satisfaction, and level of self-determined motivation for RPA. Children also wore pedometers during six consecutive 30-min mid-school-day recesses. Multiple regression analyses indicated unique significant predictors of RPAM and RPA according to gender and weight status. RPAM was significantly predicted by all three basic psychological needs for boys and only competence need satisfaction for girls and healthy-weight children. RPA was predicted by RPAM for girls, competence need satisfaction for overweight children, and autonomy need satisfaction for boys and healthy-weight children. Findings support self-determination theory and provide important insight into the variations in psychological predictors of motivation for RPA and actual physical activity behavior based on gender and weight status.

  15. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  16. Novel surveillance of psychological distress during the great recession.

    Science.gov (United States)

    Ayers, John W; Althouse, Benjamin M; Allem, Jon-Patrick; Childers, Matthew A; Zafar, Waleed; Latkin, Carl; Ribisl, Kurt M; Brownstein, John S

    2012-12-15

    Economic stressors have been retrospectively associated with net population increases in nonspecific psychological distress (PD). However, no sentinels exist to evaluate contemporaneous associations. Aggregate Internet search query surveillance was used to monitor population changes in PD around the United States' Great Recession. Monthly PD query trends were compared with unemployment, underemployment, homes in delinquency and foreclosure, median home value or sale prices, and S&P 500 trends for 2004-2010. Time series analyses, where economic indicators predicted PD one to seven months into the future, were performed in 2011. PD queries surpassed 1,000,000 per month, of which 300,000 may be attributable to the Great Recession. A one percentage point increase in mortgage delinquencies and foreclosures was associated with a 16% (95%CI, 9-24) increase in PD queries one-month, and 11% (95%CI, 3-18) four months later, in reference to a pre-Great Recession mean. Unemployment and underemployment had similar associations half and one-quarter the intensity. "Anxiety disorder", "what is depression", "signs of depression", "depression symptoms", and "symptoms of depression" were the queries exhibiting the strongest associations with mortgage delinquencies and foreclosures, unemployment or underemployment. Housing prices and S&P 500 trends were not associated with PD queries. A non-traditional measure of PD was used. It is unclear if actual clinically significant depression or anxiety increased during the Great Recession. Alternative explanations for strong associations between the Great Recession and PD queries, such as media, were explored and rejected. Because the economy is constantly changing, this work not only provides a snapshot of recent associations between the economy and PD queries but also a framework and toolkit for real-time surveillance going forward. Health resources, clinician screening patterns, and policy debate may be informed by changes in PD query

  17. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

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

  18. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.

    Science.gov (United States)

    Boyden, Steven E; Mahoney, Lane J; Kawahara, Genri; Myers, Jennifer A; Mitsuhashi, Satomi; Estrella, Elicia A; Duncan, Anna R; Dey, Friederike; DeChene, Elizabeth T; Blasko-Goehringer, Jessica M; Bönnemann, Carsten G; Darras, Basil T; Mendell, Jerry R; Lidov, Hart G W; Nishino, Ichizo; Beggs, Alan H; Kunkel, Louis M; Kang, Peter B

    2012-05-01

    We ascertained a nuclear family in which three of four siblings were affected with an unclassified autosomal recessive myopathy characterized by severe weakness, respiratory impairment, scoliosis, joint contractures, and an unusual combination of dystrophic and myopathic features on muscle biopsy. Whole genome sequence from one affected subject was filtered using linkage data and variant databases. A single gene, MEGF10, contained nonsynonymous mutations that co-segregated with the phenotype. Affected subjects were compound heterozygous for missense mutations c.976T > C (p.C326R) and c.2320T > C (p.C774R). Screening the MEGF10 open reading frame in 190 patients with genetically unexplained myopathies revealed a heterozygous mutation, c.211C > T (p.R71W), in one additional subject with a similar clinical and histological presentation as the discovery family. All three mutations were absent from at least 645 genotyped unaffected control subjects. MEGF10 contains 17 atypical epidermal growth factor-like domains, each of which contains eight cysteine residues that likely form disulfide bonds. Both the p.C326R and p.C774R mutations alter one of these residues, which are completely conserved in vertebrates. Previous work showed that murine Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease. Here, knockdown of megf10 in zebrafish by four different morpholinos resulted in abnormal phenotypes including unhatched eggs, curved tails, impaired motility, and disorganized muscle tissue, corroborating the pathogenicity of the human mutations. Our data establish the importance of MEGF10 in human skeletal muscle and suggest satellite cell dysfunction as a novel myopathic mechanism.

  19. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

    Science.gov (United States)

    Orlacchio, Antonio; Babalini, Carla; Borreca, Antonella; Patrono, Clarice; Massa, Roberto; Basaran, Sarenur; Munhoz, Renato P; Rogaeva, Ekaterina A; St George-Hyslop, Peter H; Bernardi, Giorgio; Kawarai, Toshitaka

    2010-02-01

    The mutation of the spatacsin gene is the single most common cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum. Common clinical, pathological and genetic features between amyotrophic lateral sclerosis and hereditary spastic paraplegia motivated us to investigate 25 families with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival for mutations in the spatascin gene. The inclusion criterion was a diagnosis of clinically definite amyotrophic lateral sclerosis according to the revised El Escorial criteria. The exclusion criterion was a diagnosis of hereditary spastic paraplegia with thin corpus callosum in line with an established protocol. Additional pathological and genetic evaluations were also performed. Surprisingly, 12 sequence alterations in the spatacsin gene (one of which is novel, IVS30 + 1 G > A) were identified in 10 unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis and long-term survival. The countries of origin of these families were Italy, Brazil, Canada, Japan and Turkey. The variants seemed to be pathogenic since they co-segregated with the disease in all pedigrees, were absent in controls and were associated with amyotrophic lateral sclerosis neuropathology in one member of one of these families for whom central nervous system tissue was available. Our study indicates that mutations in the spatascin gene could cause a much wider spectrum of clinical features than previously recognized, including autosomal recessive juvenile amyotrophic lateral sclerosis.

  20. Classic congenital adrenal hyperplasia and puberty.

    Science.gov (United States)

    Charmandari, Evangelia; Brook, Charles G D; Hindmarsh, Peter C

    2004-11-01

    Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal cortex. The most common form of the disease is classic 21-hydroxylase deficiency, which is characterized by decreased synthesis of glucocorticoids and often mineralocorticoids, adrenal hyperandrogenism and impaired development and function of the adrenal medulla. The clinical management of classic 21-hydroxylase deficiency is often suboptimal, and patients are at risk of developing in tandem iatrogenic hypercortisolism and/or hyperandogenism. Limitations of current medical therapy include the inability to control hyperandrogenism without employing supraphysiologic doses of glucocorticoid, hyperresponsiveness of the hypertrophied adrenal glands to adrenocorticotropic hormone (ACTH) and difficulty in suppressing ACTH secretion from the anterior pituitary. Puberty imposes increased difficulty in attaining adrenocortical suppression despite optimal substitution therapy and adherence to medical treatment. Alterations in the endocrine milieu at puberty may influence cortisol pharmacokinetics and, consequently, the handling of hydrocortisone used as replacement therapy. Recent studies have demonstrated a significant increase in cortisol clearance at puberty and a shorter half-life of free cortisol in pubertal females compared with males. Furthermore, children with classic CAH have elevated fasting serum insulin concentrations and insulin resistance. The latter may further enhance adrenal and/or ovarian androgen secretion, decrease the therapeutic efficacy of glucocorticoids and contribute to later development of the metabolic syndrome and its complications.

  1. Anaesthesia management in a patient with a severe biotinidase deficiency for congenital scoliosis repair

    Directory of Open Access Journals (Sweden)

    Ebrahim Almasri

    2016-01-01

    Full Text Available A 17 year old female patient with a biotinidase enzyme deficiency, cerebral palsy, aphamis, generalized hyperreflexia and spasticity, epilepsy and mental retardation came for the severe kyphoscoliotic deformity correction. Biotinidase enzyme deficiency is an autosomal recessive disorder with incidence of 1:60,000 neonatal birth. Treatment with biotin results in a rapid biochemical and clinical improvement. This enzyme deficiency involves neurological, neuromuscular, respiratory, dermatological and immunological problems. If untreated it can lead to convulsions, coma and death. Cobb’s angle that measures the curvature of scoliosis, determined by measurements made on X rays in this case was 120° with clinical presentation of recurrent respiratory tract infection, inability to maintain sagittal posture, inability to eat or feed and difficulty in nursing care. Anaesthetic management in these patients should focus primarily on associated comorbidities and congenital anomalies affecting the course of the perioperative management and thereafter comprehensive preoperative strategies must be executed to enhance the safety profile during the surgery.

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

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2015-03-01

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

  3. 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.

  4. Hospital financial performance in the recent recession and implications for institutions that remain financially weak.

    Science.gov (United States)

    Bazzoli, Gloria J; Fareed, Naleef; Waters, Teresa M

    2014-05-01

    The recent recession had a profound effect on all sectors of the US economy, including health care. We examined how private hospitals fared through the recession and considered how changes in their financial health may affect their ability to respond to future industry challenges. We categorized 2,971 private short-term general medical or surgical hospitals (both nonprofit and for-profit) according to their pre-recession financial health and safety-net status, and we examined their operational status changes and operating and total financial margins during 2006-11. We found that hospitals that were financially weak before the recession remained so during and after the recession. The total margins of nonprofit hospitals (both safety-net and other institutions) declined in 2008 but returned to their pre-recession levels by 2011. The recession did not create additional fiscal pressure on hospitals that were previously financially weak or in safety-net roles. However, both groups continue to have notable financial deficiencies that could limit their abilities to meet the growing demands on the industry.

  5. The Great American Recession and forgone healthcare: Do widened disparities between African-Americans and Whites remain?

    Science.gov (United States)

    Travers, Jasmine L; Cohen, Catherine C; Dick, Andrew W; Stone, Patricia W

    2017-01-01

    During the Great Recession in America, African-Americans opted to forgo healthcare more than other racial/ethnic groups. It is not understood whether disparities in forgone care returned to pre-recession levels. Understanding healthcare utilization patterns is important for informing subsequent efforts to decrease healthcare disparities. Therefore, we examined changes in racial disparities in forgone care before, during, and after the Great Recession. Data were pooled from the 2006-2013 National Health Interview Survey. Forgone medical, mental, and prescription care due to affordability were assessed among African-Americans and Whites. Time periods were classified as: pre-recession (May 2006-November 2007), early recession (December 2007-November 2008), late recession (December 2008-May 2010) and post-recession (June 2010-December 2013). Multivariable logistic regressions of race, interacted with time periods, were used to identify disparities in forgone care controlling for other demographics, health insurance coverage, and having a usual place for medical care across time periods. Adjusted Wald tests were performed to identify significant changes in disparities across time periods. The sample consisted of 110,746 adults. African-Americans were more likely to forgo medical care during the post- recession compared to Whites (OR = 1.16, CI = 1.06, 1.26); changes in foregone medical care disparities were significant in that they increased in the post-recession period compared to the pre-recession (OR = 1.17, CI = 1.08, 1.28 and OR = 0.89, CI = 0.77, 1.04, respectively, adjusted Wald Test p-value Great Recession and may be a result of outstanding issues related to healthcare access, cost, and quality. While health insurance is an important component of access to care, it alone should not be expected to remove these disparities due to other financial constraints. Additional strategies are necessary to close remaining gaps in care widened by the Great Recession.

  6. The Great Recession and confidence in homeownership

    OpenAIRE

    Anat Bracha; Julian Jamison

    2013-01-01

    Confidence in homeownership shifts for those who personally experienced real estate loss during the Great Recession. Older Americans are confident in the value of homeownership. Younger Americans are less confident.

  7. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  8. Economic suicides in the Great Recession in Europe and North America.

    Science.gov (United States)

    Reeves, Aaron; McKee, Martin; Stuckler, David

    2014-09-01

    There has been a substantial rise in 'economic suicides' in the Great Recessions afflicting Europe and North America. We estimate that the Great Recession is associated with at least 10 000 additional economic suicides between 2008 and 2010. A critical question for policy and psychiatric practice is whether these suicide rises are inevitable. Marked cross-national variations in suicides in the recession offer one clue that they are potentially avoidable. Job loss, debt and foreclosure increase risks of suicidal thinking. A range of interventions, from upstream return-to-work programmes through to antidepressant prescriptions may help mitigate suicide risk during economic downturn. Royal College of Psychiatrists.

  9. MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome Síndrome de Sjögren-Larsson: achados à ressonância magnética e espectroscopia de prótons em três pacientes

    Directory of Open Access Journals (Sweden)

    Mauro Nakayama

    2006-06-01

    Full Text Available Sjögren-Larsson syndrome (SLS is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental retardation and spastic di- or tetraplegia. Magnetic resonance imaging (MRI of the brain usually shows hypomyelination involving the periventricular white matter. Cerebral proton MR spectroscopy (¹H-MRS reveals a characteristic abnormal lipid peak. We report three cases of SLS from different families with the typical clinical triad. The MRI and ¹H-MRS findings are discussed.A síndrome de Sjögren-Larsson (SJL é distúrbio raro, autossômico recessivo, caracterizado pela tríade clássica de ictiose congênita, retardo mental e tetraplegia ou diplegia espástica. Trata-se de um erro inato do metabolismo dos lipídios, causado pela deficiência da enzima microssômica aldeído graxo desidrogenase. Os achados de imagem do encéfalo na SJL demonstram atrofia cerebral e alteração da substância branca. A espectroscopia de prótons, com poucos casos relatados, caracteriza-se pelo elevado pico de lipídios e redução de N-acetil-aspartato. Apresentamos três casos de SJL, com ênfase nos achados da ressonância magnética e da espectroscopia de prótons.

  10. Recession-based hydrological models for estimating low flows in ungauged catchments in the Himalayas

    Directory of Open Access Journals (Sweden)

    H. G. Rees

    2004-01-01

    Full Text Available The Himalayan region of Nepal and northern India experiences hydrological extremes from monsoonal floods during July to September, when most of the annual precipitation falls, to periods of very low flows during the dry season (December to February. While the monsoon floods cause acute disasters such as loss of human life and property, mudslides and infrastructure damage, the lack of water during the dry season has a chronic impact on the lives of local people. The management of water resources in the region is hampered by relatively sparse hydrometerological networks and consequently, many resource assessments are required in catchments where no measurements exist. A hydrological model for estimating dry season flows in ungauged catchments, based on recession curve behaviour, has been developed to address this problem. Observed flows were fitted to a second order storage model to enable average annual recession behaviour to be examined. Regionalised models were developed, using a calibration set of 26 catchments, to predict three recession curve parameters: the storage constant; the initial recession flow and the start date of the recession. Relationships were identified between: the storage constant and catchment area; the initial recession flow and elevation (acting as a surrogate for rainfall; and the start date of the recession and geographic location. An independent set of 13 catchments was used to evaluate the robustness of the models. The regional models predicted the average volume of water in an annual recession period (1st of October to the 1st of February with an average error of 8%, while mid-January flows were predicted to within ±50% for 79% of the catchments in the data set. Keywords: Himalaya, recession curve, water resources, ungauged catchment, regionalisation, low flows

  11. The Great Recession, unemployment and suicide.

    Science.gov (United States)

    Norström, Thor; Grönqvist, Hans

    2015-02-01

    How have suicide rates responded to the marked increase in unemployment spurred by the Great Recession? Our paper puts this issue into a wider perspective by assessing (1) whether the unemployment-suicide link is modified by the degree of unemployment protection, and (2) whether the effect on suicide of the present crisis differs from the effects of previous economic downturns. We analysed the unemployment-suicide link using time-series data for 30 countries spanning the period 1960-2012. Separate fixed-effects models were estimated for each of five welfare state regimes with different levels of unemployment protection (Eastern, Southern, Anglo-Saxon, Bismarckian and Scandinavian). We included an interaction term to capture the possible excess effect of unemployment during the Great Recession. The largest unemployment increases occurred in the welfare state regimes with the least generous unemployment protection. The unemployment effect on male suicides was statistically significant in all welfare regimes, except the Scandinavian one. The effect on female suicides was significant only in the eastern European country group. There was a significant gradient in the effects, being stronger the less generous the unemployment protection. The interaction term capturing the possible excess effect of unemployment during the financial crisis was not significant. Our findings suggest that the more generous the unemployment protection the weaker the detrimental impact on suicide of the increasing unemployment during the Great Recession. 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.

  12. Influence of recession on the infiltration in open furrows on slopes, under constant flow

    Directory of Open Access Journals (Sweden)

    Valéria Ingght Almeida Lima

    2014-06-01

    Full Text Available Normal 0 21 false false false PT-BR X-NONE X-NONE During surface irrigation, some phases related to its hydraulics are produced. The monitoring of these phases allows determining dvance and recession curves. The recession phase occurs after the application of water to furrows. Hydraulically, it is the most complex phase and therefore difficult to predict in mathematical treatments. To obtain the recession phase, it is necessary to determine the time at which water advances over the soil surface to specific points, called stations, over the area and then record the time at which it disappears. Observing the passage of the recessive front through the measuring stations along the furrows as a function of time defines the recession curve. Using field data obtained by Ramsey (1976 and by the Department of Agriculture and Chemical Engineering, University of Colorado (1980, in three different farms:  Horticulture, Stieben e Benson. This work aimed to study the effect of the recession time on the infiltrated profile in surface irrigation. 

  13. A Comparison of Children's Physical Activity Levels in Physical Education, Recess, and Exergaming.

    Science.gov (United States)

    Gao, Zan; Chen, Senlin; Stodden, David F

    2015-03-01

    To compare young children's different intensity physical activity (PA) levels in physical education, recess and exergaming programs. Participants were 140 first and second grade children (73 girls; Meanage= 7.88 years). Beyond the daily 20-minute recess, participants attended 75-minute weekly physical education classes and another 75-minute weekly exergaming classes. Children's PA levels were assessed by ActiGraph GTX3 accelerometers for 3 sessions in the 3 programs. The outcome variables were percentages of time spent in sedentary, light PA and moderate-to-vigorous PA (MVPA). There were significant main effects for program and grade, and an interaction effect for program by grade. Specifically, children's MVPA in exergaming and recess was higher than in physical education. The 2nd-grade children demonstrated lower sedentary behavior and MVPA than the first-grade children during recess; less light PA in both recess and exergaming than first-grade children; and less sedentary behavior but higher MVPA in exergaming than first-grade children. Young children generated higher PA levels in recess and exergaming as compared with physical education. Hence, other school-based PA programs may serve as essential components of a comprehensive school PA program. Implications are provided for educators and health professionals.

  14. A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.

    Directory of Open Access Journals (Sweden)

    Caitlin J Rinz

    Full Text Available Congenital myasthenic syndromes (CMSs are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ. CMSs are rarely encountered in veterinary medicine, and causative mutations have only been identified in Old Danish Pointing Dogs and Brahman cattle to date. Herein, we characterize a novel CMS in 2 Labrador Retriever littermates with an early onset of marked generalized muscle weakness. Because the sire and dam share 2 recent common ancestors, CMS is likely the result of recessive alleles inherited identical by descent (IBD. Genome-wide SNP profiles generated from the Illumina HD array for 9 nuclear family members were used to determine genomic inheritance patterns in chromosomal regions encompassing 18 functional candidate genes. SNP haplotypes spanning 3 genes were consistent with autosomal recessive transmission, and microsatellite data showed that only the segment encompassing COLQ was inherited IBD. COLQ encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of signal transduction in the NMJ. Sequences from COLQ revealed a variant in exon 14 (c.1010T>C that results in the substitution of a conserved amino acid (I337T within the C-terminal domain. Both affected puppies were homozygous for this variant, and 16 relatives were heterozygous, while 288 unrelated Labrador Retrievers and 112 dogs of other breeds were wild-type. A recent study in which 2 human CMS patients were found to be homozygous for an identical COLQ mutation (c.1010T>C; I337T provides further evidence that this mutation is pathogenic. This report describes the first COLQ mutation in canine CMS and demonstrates the utility of SNP profiles from nuclear family members for the identification of private mutations.

  15. [Congenital cardiopathy and cerebral abscess].

    Science.gov (United States)

    Paixão, A; de Andrade, F F; Sampayo, F

    1989-01-01

    During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

  16. Symptoms of Autism Among Children with Congenital Deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2014-01-01

    concerning individuals with congenital deafblindness. This study examines symptoms of autism among 71 children with congenital deafblindness using the Autism Behavior Checklist. The cohort of children with congenital deafblindness was found to have symptoms of autism on a level similar to children......Associations between congenital deafness or blindness and autism have been found. The main consequences of congenital sensory impairment, being barriers for communication, language and social interaction development, may lead to symptoms of autism. To date only few studies have been reported...... with another developmental disorder than autism for example intellectual disability. No association was found between severity of congenital sensory impairment and severity or type of symptoms of autism....

  17. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  18. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  19. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  20. Parental Employment Status and Symptoms of Children Abused during a Recession

    Science.gov (United States)

    Tobey, Trina; McAuliff, Kathleen; Rocha, Celina

    2013-01-01

    Incidences and severity of child abuse have increased since the start of the recession. This study examined the relationship between employment status and severity of symptoms in children abused during a recession year. Participants included 154 females and 65 males between 2 and 17 years old referred to Dallas Children's Advocacy Center after…

  1. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

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

  2. 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....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

  3. Bleeding Episodes Among Patients with Congenital Fibrinogen Disorders, a Study On 12 New Iranian Patients

    Directory of Open Access Journals (Sweden)

    Majid Naderi

    2018-01-01

    Full Text Available Background: Congenital fibrinogen disorders (CFDs comprise about 10% of rare bleeding disorders (RBDs. CFDs are divided into two groups of quantitative (afibrinogenemia and hypofibrinogenemia with autosomal recessive inheritance pattern, and qualitative (dysfibrinogenemia, hypodysfibrogenemia disorders, mainly with autosomal dominant inheritance pattern. Sistan and Baluchestan Province in Iran, with its high rate of consanguineous marriages, has a high incidence of RBDs including CFD. In the current study, we report clinical manifestations of patients with CFDs.Methods: Twelve new Iranian patients from Sistan and Baluchestan Province with different types of CFDs were selected for this study. Diagnosis of CFDs was based on clinical features and familial history followed by laboratory assessment by routine and specific coagulation tests including prothrombin time (PT and activated partial time tests (APTT, as well as FI activity assay by Clauss method.Results: Out of 12 patients, 3(25% had afibrinogenemia, 7(58.3% had hypofibrinogenemia while 2(16/7% were suspected of having dysfibrinogenemia. Although umbilical cord bleeding (UCB 9(75% was the most common clinical presentation among the study population, this feature was not observed among patients with dysfibrinogenemia. Hematoma (100% was the most common presentation of patients with dysfibrinogenemia.  Conclusion: Results of this study revealed that some clinical presentations are the diagnostic features of CFDs and can be used for precise and in-time diagnosis CFDs in conjunction with family history and laboratory findings.Keywords: Fibrinogen Deficiency; Congenital Afibrinogenemia; Blood Coagulation Disorder; Afibrinogenemia

  4. Screening of Long Q-T Syndrome in Patients with Congenital Sensorineural Hearing Loss (Jervell and Lange Neilesen Syndrome: Prevention of Fatal Events

    Directory of Open Access Journals (Sweden)

    Farid Matin

    2001-01-01

    Full Text Available Objective:The idiopathic long Q-T syndrome is an infrequently occurring disorder in which affected individuals have an unusual electrocardiographic repolarization abnormality presenting as syncope or loss of consciousness related to ventricular tachycardia or fibrillation. Congenital long Q-T prolongation can be associated with congenital deafness in an autosomal recessive manner (Jervell and Lange-Nielsen syndrome. The purpose of this stuff was to screen this electrocardiographic abnormality in deaf-mute school children in our population, which has not been yet performed. Materials & Methods:  Of 1190 patients with hearing loss, 779 had congenital sensorineural deafness (CSD, aged 13±3.8 years (4-24, 63% female and 37% male. The family history of deafness was as follows: Cardiac axis deviation was found in 56 (7% patients. Electrical conduction abnormalities were found in 12 (15% patients, Wolff-Parkinson-White syndrome, sinus bradycardia, and sinus arrhythmia were found in 2 (0.25%, 4 (0.5%, and 3 (0.38% patients, respectively. The Q-T interval, and Q-Tc duration were 312.6±28.9 ms (200-500 ms, median 320 ms, and 383.6±29.3 ms (232-527 ms, median 413ms, respectively. Long Q-T syndrome was found in 4 (0.5% patients (3F and 1M. Results: Two of these 4 patients had total deafness and 2 had profound hearing loss. None of the patients with mild deafness had Q-T prolongation. Only one of these patients was symptomatic, and had been treated as a case of epilepsy for several years. Conclusion: This data supports the presence of long Q-T syndrome in patients with sensorineural hearing loss in our population, so routine electrocardiographic screening of anyone with congenital deafness is warranted to prevent subsequent associated cardiac arrhythmias and sudden cardiac death.

  5. 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.

  6. Inadvertent chest tube insertion in congenital cystic adenomatoid malformation and congenital lobar emphysema-highlighting an important problem

    International Nuclear Information System (INIS)

    Prabhu, Shailesh M; Choudhury, Subhasis Roy; Solanki, Ravi S; Shetty, Gurucharan S; Agarwala, Surenderkumar

    2013-01-01

    Chest tube insertion in congenital cystic lung lesions is an important problem in children with acute respiratory distress having a cystic lucent lesion on chest radiograph. To evaluate the imaging findings and complications in cases of congenital cystic lung lesions with chest tube insertion and suggest the role of appropriate imaging for management of these patients. Chest radiographs and CT scans of children with congenital cystic lung lesions who had inadvertent chest tube insertion preoperatively were retrospectively reviewed for imaging appearances and complications. Fifteen patients comprising 10 cases of congenital cystic adenomatoid malformation (CCAM) and 5 cases of congenital lobar emphysema (CLE) were included. Majority of the cases were infants. CCAM was misdiagnosed as complicated pneumatocele (n = 5) and pneumothorax (n = 5), while CLE was misdiagnosed as tension pneumothorax (n = 5) on the chest radiograph findings. Final diagnosis was made on CT and operative findings with histopathology. Complications noted were pneumothorax, hydropneumothorax, and infection in cases of CCAM, and change in imaging appearance and pneumothorax in cases of CLE. Chest tube insertion in congenital cystic lesions increases the rate of associated complications. Chest CT has a definite role in early diagnosis and deciding appropriate management in these cases

  7. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

  8. Impact of the Great Recession on industry unemployment: a 1976-2011 comparison

    NARCIS (Netherlands)

    Takhtamanova, Yelena; Sierminska, Eva

    2017-01-01

    This paper studies the mechanisms driving the persistently high unemployment rate during the last recession and mild recovery. Previous studies have examined the demographic aspect of the recession. We focus on specific industries. Consequently, we propose a methodology to decompose changes in the

  9. The Great American Recession and forgone healthcare: Do widened disparities between African-Americans and Whites remain?

    Directory of Open Access Journals (Sweden)

    Jasmine L Travers

    Full Text Available During the Great Recession in America, African-Americans opted to forgo healthcare more than other racial/ethnic groups. It is not understood whether disparities in forgone care returned to pre-recession levels. Understanding healthcare utilization patterns is important for informing subsequent efforts to decrease healthcare disparities. Therefore, we examined changes in racial disparities in forgone care before, during, and after the Great Recession.Data were pooled from the 2006-2013 National Health Interview Survey. Forgone medical, mental, and prescription care due to affordability were assessed among African-Americans and Whites. Time periods were classified as: pre-recession (May 2006-November 2007, early recession (December 2007-November 2008, late recession (December 2008-May 2010 and post-recession (June 2010-December 2013. Multivariable logistic regressions of race, interacted with time periods, were used to identify disparities in forgone care controlling for other demographics, health insurance coverage, and having a usual place for medical care across time periods. Adjusted Wald tests were performed to identify significant changes in disparities across time periods.The sample consisted of 110,746 adults. African-Americans were more likely to forgo medical care during the post- recession compared to Whites (OR = 1.16, CI = 1.06, 1.26; changes in foregone medical care disparities were significant in that they increased in the post-recession period compared to the pre-recession (OR = 1.17, CI = 1.08, 1.28 and OR = 0.89, CI = 0.77, 1.04, respectively, adjusted Wald Test p-value < 0.01. No changes in disparities were seen in prescription and mental forgone care.A persistent increase in forgone medical care disparities existed among African-Americans compared to Whites post-Great Recession and may be a result of outstanding issues related to healthcare access, cost, and quality. While health insurance is an important component of access

  10. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

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

    1981-11-01

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

  11. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  12. Unemployment, the Great Recession, and Apprenticeship Attrition in the U.S.

    Science.gov (United States)

    Bilginsoy, Cihan

    2018-01-01

    The author estimates the impacts of the local rate of unemployment and the Great Recession on the quit and graduation rates of the U.S. construction trade apprentices over the 2001-2014 period. Trade union participation in training sponsorship had a strong influence on attrition rates. The impacts of the business cycle and the Great Recession on…

  13. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

    Science.gov (United States)

    Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

    2016-12-01

    To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

  14. Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature

    Directory of Open Access Journals (Sweden)

    Fatma S. Al-Qahtani

    2010-01-01

    Full Text Available Congenital amegakaryocytic thrombocytopenia (CAMT is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO receptor, c-Mpl, despite high levels of serum TPO. Patients with severe Type I-CAMT carry nonsense Mpl mutations which causes a complete loss of the TPO receptor whereas those with Type II CAMT carry missense mutations in the Mpl gene affecting the extracellular domain of the TPO receptor. Differential diagnosis for severe CAMT includes thrombocytopenia with absent radii (TAR and Wiskott-Aldrich syndrome (WAS. The primary treatment for CAMT is bone marrow transplantation. Bone Marrow/Stem Cell Transplant (HSCT is the only thing that ultimately cures this genetic disease. Newer modalities are on the way, such as TPO-mimetics for binding towards partially functioning c-Mpl receptors and gene therapy. Prognosis of CAMT patients is poor, because all develop in childhood a tri-linear marrow aplasia that is always fatal when untreated. Thirty percent of patients with CAMT die due to bleeding complications and 20% -due to HSCT if it has been done.

  15. 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.”

  16. Recession-based hydrological models for estimating low flows in ungauged catchments in the Himalayas

    Science.gov (United States)

    Rees, H. G.; Holmes, M. G. R.; Young, A. R.; Kansakar, S. R.

    The Himalayan region of Nepal and northern India experiences hydrological extremes from monsoonal floods during July to September, when most of the annual precipitation falls, to periods of very low flows during the dry season (December to February). While the monsoon floods cause acute disasters such as loss of human life and property, mudslides and infrastructure damage, the lack of water during the dry season has a chronic impact on the lives of local people. The management of water resources in the region is hampered by relatively sparse hydrometerological networks and consequently, many resource assessments are required in catchments where no measurements exist. A hydrological model for estimating dry season flows in ungauged catchments, based on recession curve behaviour, has been developed to address this problem. Observed flows were fitted to a second order storage model to enable average annual recession behaviour to be examined. Regionalised models were developed, using a calibration set of 26 catchments, to predict three recession curve parameters: the storage constant; the initial recession flow and the start date of the recession. Relationships were identified between: the storage constant and catchment area; the initial recession flow and elevation (acting as a surrogate for rainfall); and the start date of the recession and geographic location. An independent set of 13 catchments was used to evaluate the robustness of the models. The regional models predicted the average volume of water in an annual recession period (1st of October to the 1st of February) with an average error of 8%, while mid-January flows were predicted to within ±50% for 79% of the catchments in the data set.

  17. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. Lunch, recess and nutrition: responding to time incentives in the cafeteria.

    Science.gov (United States)

    Price, Joseph; Just, David R

    2015-02-01

    In this study, we evaluate if moving recess before lunch has an effect on the amount of fruits and vegetables elementary school students eat as part of their school-provided lunch. Participants were 1st-6th grade students from three schools that switched recess from after to before lunch and four similar schools that continued to hold recess after lunch. We collected data for an average of 14 days at each school (4 days during spring 2011, May 3 through June 1, 2011 and 9 days during fall 2011, September 19 through November 11, 2011). All of the schools were in Orem, UT. Data was collected for all students receiving a school lunch and was based on observational plate waste data. We find that moving recess before lunch increased consumption of fruits and vegetables by 0.16 servings per child (a 54% increase) and increased the fraction of children eating at least one serving of fruits or vegetables by 10 percentage points (a 45% increase). In contrast, the schools in our control group actually experienced a small reduction in fruit and vegetable consumption during the same time period. Our results show the benefits of holding recess before lunch and suggest that if more schools implement this policy, there would be significant increases in fruit and vegetable consumption among students who eat school lunch as part of the National School Lunch Program. Copyright © 2014 Elsevier Inc. All rights reserved.

  19. Radiographic observation of congenital diaphragmatic hernia

    International Nuclear Information System (INIS)

    Rhee, Chung Sik

    1973-01-01

    Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia

  20. Radiographic observation of congenital diaphragmatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Rhee, Chung Sik [Ewha Women' s University College of Medicine, Seoul (Korea, Republic of)

    1973-12-15

    Five cases of congenital diaphragmatic hernia. Case 1: A female infant, birth weight 2.25 kg, Apgar score 10, normal delivery at 11:33 P.M. on Feb.8, 1972. Lt side congenital diaphragmatic hernia. Case 2: A female infant, birth weight 1.48 kg, Apgar score 5, normal delivery at 11:20 A.M. on Oct.14, 1972. Lt. side congenital diaphragmatic hernia. This infant was twin. this infant's mother was toxemia. Case 3; A 33 years old women was admitted to the our hospital because of Lt.hip joint pain without other symptoms. Date of admission: Jan. 8, 1973. Rt side congenital diaphragmentic hernia. Case 4: A 4 month infant male was admitted to the our hospital because of vomiting, dyspnea and abdominal pain. He had cyanosis intermittently after one month ago. This infant was normal delivered. The family history was not contributory. Date of admission: This infant was normal delivered. The family history was not contributory. Date of admission: Aug. 30, 1971. Rt side congenital diaphragmatic hernia. Case 5: A 13 years old girl was admitted to our hospital because of general weakness without other symptoms. This patient was normal delivered. The family history was not contributory. Date of admission: March. 15, 1973. Lt. side congenital diaphragmentic hernia.

  1. Etiological evaluation of primary congenital hypothyroidism cases.

    Science.gov (United States)

    Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

    2017-06-01

    Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

  2. Job gains and losses at large and small firms during the Great Recession

    OpenAIRE

    Juan M. Sánchez; Lowell R. Ricketts

    2012-01-01

    Conventional wisdom says that employment at small firms declines more than employment at large firms during recessions. However, that doesn’t seem to have been the case during the Great Recession of 2007-09.

  3. Giving children a voice: Exploring qualitative perspectives on factors influencing recess physical activity

    DEFF Research Database (Denmark)

    Pawlowski, Charlotte Skau; Schipperijn, Jasper; Tjørnhøj-Thomsen, Tine

    2018-01-01

    Facilitators and barriers to recess physical activity are not well understood. To date, research on recess physical activity has predominantly focused on quantitative measures typically focusing on a narrow set of predefined factors, often constructed by adults. To really understand the factors...... 11–12-year-old children. The socio-ecological model was used as the overall theoretical framework. Twelve factors were identified as influencing the children’s recess physical activity: bodily self-esteem and ability; gender; gendered school culture; peer influence; conflicts and exclusion; space...... and place experiences; lack of play facilities; outdoor play policy; use of electronic devices; recess duration; organised activities; and weather. These factors were located within different layers of the socio-ecological model, but were interdependent. The findings speak for implementing a combination...

  4. 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.

  5. Did the Great Recession increase suicides in the USA? Evidence from an interrupted time-series analysis.

    Science.gov (United States)

    Harper, Sam; Bruckner, Tim A

    2017-07-01

    Research suggests that the Great Recession of 2007-2009 led to nearly 5000 excess suicides in the United States. However, prior work has not accounted for seasonal patterning and unique suicide trends by age and gender. We calculated monthly suicide rates from 1999 to 2013 for men and women aged 15 and above. Suicide rates before the Great Recession were used to predict the rate during and after the Great Recession. Death rates for each age-gender group were modeled using Poisson regression with robust variance, accounting for seasonal and nonlinear suicide trajectories. There were 56,658 suicide deaths during the Great Recession. Age- and gender-specific suicide trends before the recession demonstrated clear seasonal and nonlinear trajectories. Our models predicted 57,140 expected suicide deaths, leading to 482 fewer observed than expected suicides (95% confidence interval -2079, 943). We found little evidence to suggest that the Great Recession interrupted existing trajectories of suicide rates. Suicide rates were already increasing before the Great Recession for middle-aged men and women. Future studies estimating the impact of recessions on suicide should account for the diverse and unique suicide trajectories of different social groups. Copyright © 2017 Elsevier Inc. All rights reserved.

  6. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  7. Differential Protein Expression in Congenital and Acquired Cholesteatomas.

    Directory of Open Access Journals (Sweden)

    Seung-Ho Shin

    Full Text Available Congenital cholesteatomas are epithelial lesions that present as an epithelial pearl behind an intact eardrum. Congenital and acquired cholesteatomas progress quite differently from each other and progress patterns can provide clues about the unique origin and pathogenesis of the abnormality. However, the exact pathogenic mechanisms by which cholesteatomas develop remain unknown. In this study, key proteins that directly affect cholesteatoma pathogenesis are investigated with proteomics and immunohistochemistry. Congenital cholesteatoma matrices and retroauricular skin were harvested during surgery in 4 patients diagnosed with a congenital cholesteatoma. Tissue was also harvested from the retraction pocket in an additional 2 patients during middle ear surgery. We performed 2-dimensional (2D electrophoresis to detect and analyze spots that are expressed only in congenital cholesteatoma and matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF/MS to separate proteins by molecular weight. Protein expression was confirmed by immunohistochemical staining. The image analysis of 2D electrophoresis showed that 4 congenital cholesteatoma samples had very similar protein expression patterns and that 127 spots were exclusively expressed in congenital cholesteatomas. Of these 127 spots, 10 major spots revealed the presence of titin, forkhead transcription activator homolog (FKH 5-3, plectin 1, keratin 10, and leucine zipper protein 5 by MALDI-TOF/MS analysis. Immunohistochemical staining showed that FKH 5-3 and titin were expressed in congenital cholesteatoma matrices, but not in acquired cholesteatomas. Our study shows that protein expression patterns are completely different in congenital cholesteatomas, acquired cholesteatomas, and skin. Moreover, non-epithelial proteins, including FKH 5-3 and titin, were unexpectedly expressed in congenital cholesteatoma tissue. Our data indicates that congenital cholesteatoma origins

  8. Clinical features of congenital cystic disease of the mediastinum. Diagnostic usefulness of computed tomography and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Bando, Masashi; Ishii, Yoshiki; Sugiyama, Yukihiko; Furuse, Makoto; Murayama, Fumio; Sohara, Yasunori

    2000-01-01

    We describe 18 cases of congenital mediastinal cysts, including 4 bronchogenic cysts, 5 pericardial cysts, and 9 thymic cysts. Fifteen of the 18 patients (62.5%) were asymptomatic, and the cysts were found incidentally on a chest radiograph conducted as a part of a physical screening. In 2 of the 4 cases of bronchogenic cysts, the cystic lesions were located in the posterior mediastinum and in the cephalad recess of the azgos vein (CRAzV). In 3 of the 5 cases of pericardial cysts, the lesions were located in the right cardio-phrenic region. In the remaining 2 cases, the cysts were located in the CRAzV and in the posterior mediastinum. Seventeen patients who had histologically proven mediastinal cysts were investigated by magnetic resonance (MR) imaging. In all 3 cases of bronchogenic cysts, MR signals of the cysts were of higher intensity than those of muscle on T1-weighted images. Neither the pericardial cysts nor the thymic cysts showed high signal intensity on T1-weighted images. Macroscopically, the intracystic fluids in all of the bronchogenic cysts contained viscid mucus that probably caused high signal intensities on the T1-weighted images. MR imaging is not only useful in revealing the location of mediastinal cysts, but also in the differential diagnosis of congenital mediastinal cysts. (author)

  9. Do Economic Recessions During Early and Mid-Adulthood Influence Cognitive Function in Older Age?

    Science.gov (United States)

    Leist, Anja K.; Hessel, Philipp; Avendano, Mauricio

    2014-01-01

    Background Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Method Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/5 and 2006/7 were linked to complete work histories retrospectively collected in 2008/9, and to historical annual data on fluctuations in Gross Domestic Product (GDP) per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Results Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b = -0.06, Confidence Interval [CI] -0.11, -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34 = -0.03, CI -0.04, -0.01; b35-44= -0.02, CI -0.04, -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Conclusions Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly via more unfavourable labour market trajectories. If replicated in future studies, findings may indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function. PMID:24258197

  10. Do economic recessions during early and mid-adulthood influence cognitive function in older age?

    Science.gov (United States)

    Leist, Anja K; Hessel, Philipp; Avendano, Mauricio

    2014-02-01

    Fluctuations in the national economy shape labour market opportunities and outcomes, which in turn may influence the accumulation of cognitive reserve. This study examines whether economic recessions experienced in early and mid-adulthood are associated with later-life cognitive function. Data came from 12,020 respondents in 11 countries participating in the Survey of Health, Ageing and Retirement in Europe (SHARE). Cognitive assessments in 2004/2005 and 2006/2007 were linked to complete work histories retrospectively collected in 2008/2009 and to historical annual data on fluctuations in Gross Domestic Product per capita for each country. Controlling for confounders, we assessed whether recessions experienced at ages 25-34, 35-44 and 45-49 were associated with cognitive function at ages 50-74. Among men, each additional recession at ages 45-49 was associated with worse cognitive function at ages 50-74 (b=-0.06, CI -0.11 to -0.01). Among women, each additional recession at ages 25-44 was associated with worse cognitive function at ages 50-74 (b25-34=-0.03, CI -0.04 to -0.01; b35-44=-0.02, CI -0.04 to -0.00). Among men, recessions at ages 45-49 influenced risk of being laid-off, whereas among women, recessions at ages 25-44 led to working part-time and higher likelihood of downward occupational mobility, which were all predictors of worse later-life cognitive function. Recessions at ages 45-49 among men and 25-44 among women are associated with later-life cognitive function, possibly through more unfavourable labour market trajectories. If replicated in future studies, findings indicate that policies that ameliorate the impact of recessions on labour market outcomes may promote later-life cognitive function.

  11. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    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 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.)

  13. STRATEGIES FOR SUPERIOR PERFORMANCE IN RECESSIONS: PRO OR COUNTER-CYCLICAL?

    Directory of Open Access Journals (Sweden)

    Claudio Ramos Conti

    2015-04-01

    Full Text Available Recessions are recurring events in which most firms suffer severe impacts while others are less affected or may even prosper. Strategic management has made little progress in understanding such performance differences. In a scenario of decreased demand, intensified competition, and higher uncertainty, most firms try to survive by pro-cyclically cutting costs and investments. But firms could take advantage of undervalued resources in the market to counter-cyclically invest in new business opportunities to overtake competitors. We survey Brazilian firms in various industries about the 2008-2009 recession and analyze data using PLS-SEM. We find that while most firms pro-cyclically reduce costs and investments in recessions, a counter-cyclical strategy of investing in opportunities created by changes in the market enables superior performance. Most successful are firms with a propensity to recognize opportunities, an entrepreneurial orientation to invest, and the flexibility to efficiently implement investments.

  14. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  15. Comorbid Conditions in Neonates With Congenital Heart Disease.

    Science.gov (United States)

    Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

    2016-08-01

    The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

  16. Metabolic Syndrome Risks Following the Great Recession in Rural Black Young Adults.

    Science.gov (United States)

    Miller, Gregory E; Chen, Edith; Yu, Tianyi; Brody, Gene H

    2017-09-06

    Some of the country's highest rates of morbidity and mortality from cardiovascular disease are found in lower-income black communities in the rural Southeast. Research suggests these disparities originate in the early decades of life, and partly reflect the influence of broader socioeconomic forces acting on behavioral and biological processes that accelerate cardiovascular disease progression. However, this hypothesis has not been tested explicitly. Here, we examine metabolic syndrome (MetS) in rural black young adults as a function of their family's economic conditions before and after the Great Recession. In an ongoing prospective study, we followed 328 black youth from rural Georgia, who were 16 to 17 years old when the Great Recession began. When youth were 25, we assessed MetS prevalence using the International Diabetes Federation's guidelines. The sample's overall MetS prevalence was 18.6%, but rates varied depending on family economic trajectory from before to after the Great Recession. MetS prevalence was lowest (10.4%) among youth whose families maintained stable low-income conditions across the Recession. It was intermediate (21.8%) among downwardly mobile youth (ie, those whose families were lower income before the Recession, but slipped into poverty). The highest MetS rates (27.5%) were among youth whose families began the Recession in poverty, and sank into more meager conditions afterwards. The same patterns were observed with 3 alternative MetS definitions. These patterns suggest that broader economic forces shape cardiometabolic risk in young blacks, and may exacerbate disparities already present in this community. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  17. Inter-seasonal variability in baseflow recession rates: The role of aquifer antecedent storage in central California watersheds

    Science.gov (United States)

    Bart, Ryan; Hope, Allen

    2014-11-01

    Baseflow recession rates vary inter-seasonally in many watersheds. This variability is generally associated with changes in evapotranspiration; however, an additional and less studied control over inter-seasonal baseflow recession rates is the effect of aquifer antecedent storage. Understanding the role of aquifer antecedent storage on baseflow recession rates is crucial for Mediterranean-climate regions, where seasonal asynchronicity of precipitation and energy levels produces large inter-seasonal differences in aquifer storage. The primary objective of this study was to elucidate the relation between aquifer antecedent storage and baseflow recession rates in four central California watersheds using antecedent streamflow as a surrogate for watershed storage. In addition, a parsimonious storage-discharge model consisting of two nonlinear stores in parallel was developed as a heuristic tool for interpreting the empirical results and providing insight into how inter-seasonal changes in aquifer antecedent storage may affect baseflow recession rates. Antecedent streamflow cumulated from the beginning of the wateryear was found to be the strongest predictor of baseflow recession rates, indicating that inter-seasonal differences in aquifer storage are a key control on baseflow recession rates in California watersheds. Baseflow recession rates and antecedent streamflow exhibited a negative power-law relation, with baseflow recession rates decreasing by up to two orders of magnitude as antecedent streamflow levels increased. Inference based on the storage-discharge model indicated that the dominant source of recession flow shifted from small, rapid response aquifers at the beginning of the wet season to large, seasonal aquifers as the wet season progressed. Aquifer antecedent storage in California watersheds should be accounted for along with evapotranspiration when characterizing baseflow recession rates.

  18. Youth prospects in a time of economic recession

    Directory of Open Access Journals (Sweden)

    Elena Cottini

    2013-11-01

    Full Text Available Background: The paper gives an update to earlier analysis considering youth poverty and transition to adulthood, which is timely given the economic crisis engulfing many countries in Europe. Whereas the crisis is affecting young people in particular, there is also a certain degree of variation across Europe. Objective: We document the short-term consequences of the current recession on the transition to adulthood of young Europeans, focusing on two main cornerstones in the transition to adulthood: economic independence and residential autonomy. Methods: We use a combination of OECD Employment Statistics for 2012 and micro-level data from the European Union Statistics on Income and Living Conditions (EU-SILC for the period 2005-2011 for 24 countries. Results: We document an increase in economic hardship experienced by young adults in several European countries during the recession, which is starting to translate into higher rates of co-residence with parents, hence delaying the process of leaving home and gaining economic independence. Conclusions: The way countries are reacting to the recession is not yet clear-cut, but economic uncertainty and deprivation is on the rise in those countries hardest hit, which is likely to delay the key markers of transition to adulthood.

  19. Recess for Students with Visual Impairments

    Science.gov (United States)

    Lucas, Matthew D.

    2010-01-01

    During recess, the participation of a student with visual impairments in terms of movement can often be both challenging and rewarding for the student and general education teacher. This paper will address common characteristics of students with visual impairments and present basic solutions to improve the participation of these students in the…

  20. Utilization of two different surgical techniques in gingival recession treatment: A comparative study

    Directory of Open Access Journals (Sweden)

    Bajić Miljan

    2014-01-01

    Full Text Available Introduction. Gingival recession is a displacement of gingival margin apically to cementenamel junction. Objective. The aim of this study was to compare the results achieved with two different surgical procedures used in gingival recession treatment. Methods. Ten patients with bilateral buccal recession on maxillary canines or premolars were included in the study. Professional teeth cleaning was performed before surgery. Recession on the experimental side was treated with connective tissue graft in combination with coronally advanced, split thickness flap (tunnel technique. Control side recession was treated with connective tissue graft in combination with trapezoidal coronally advanced, full thickness flap. Coin toss was used for side decision. The following parameters were evaluated before surgery and 6 months post-op: Vertical Recession Dimension, Clinical Attachment Level, Apico-coronal width of the keratinized tissue, Healing index (Laundry, RES index, and Patient evaluation of esthetic results. Student’s t-test was used for statistical analysis. Results. Six months after surgery, mean root coverage was 91.5±14.1% and 90.1±14.6% on the experimental and on the control side, respectively. RES index, Healing index (Laundry and Patient Subjective evaluation of esthetic results showed significantly better results (p≤0.05. Conclusion. Both surgical procedures produce highly successful clinical results based on evaluated parameters, but this tunnel technique provides significantly better esthetic results. [Projekat Ministarstva nauke Republike Srbije, br. III 41008: Interakcija etiopatogenetskih mehanizama parodontopatije i periimplantitisa sa sistemskim bolestima današnjice

  1. Cost-Effectiveness of Ready for Recess to Promote Physical Activity in Children

    Science.gov (United States)

    Wang, Hongmei; Li, Tao; Siahpush, Mohammad; Chen, Li-Wu; Huberty, Jennifer

    2017-01-01

    Background: Many school-based recess interventions have been shown to be effective in increasing physical activity but their relative efficiency compared to other school-based programs are unknown. This study examined the cost-effectiveness of Ready for Recess, a program designed to increase students' physical activity in 2 elementary schools.…

  2. Power law for the duration of recession and prosperity in Latin American countries

    Science.gov (United States)

    Redelico, Francisco O.; Proto, Araceli N.; Ausloos, Marcel

    2008-11-01

    Ormerod and Mounfield [P. Ormerod, C. Mounfield, Power law distribution of duration and magnitude of recessions in capitalist economies: Breakdown of scaling, Physica A 293 (2001) 573] and Ausloos et al. [M. Ausloos, J. Mikiewicz, M. Sanglier, The durations of recession and prosperity: Does their distribution follow a power or an exponential law? Physica A 339 (2004) 548] have independently analyzed the duration of recessions for developed countries through the evolution of the GDP in different time windows. It was found that there is a power law governing the duration distribution. We have analyzed data collected from 19 Latin American countries in order to observe whether such results are valid or not for developing countries. The case of prosperity years is also discussed. We observe that the power law of recession time intervals, see Ref. [1], is valid for Latin American countries as well. Thus an interesting point is discovered: the same scaling time is found in the case of recessions for the three data sets (ca. 1 year), and this could represent a universal feature. Other time scale parameters differ significantly from each other.

  3. Financial and Real Sector Leading Indicators of Recessions in Brazil Using Probabilistic Models

    Directory of Open Access Journals (Sweden)

    Fernando Nascimento de Oliveira

    Full Text Available We examine the usefulness of various financial and real sector variables to forecast recessions in Brazil between one and eight quarters ahead. We estimate probabilistic models of recession and select models based on their outof-sample forecasts, using the Receiver Operating Characteristic (ROC function. We find that the predictive out-of-sample ability of several models vary depending on the numbers of quarters ahead to forecast and on the number of regressors used in the model specification. The models selected seem to be relevant to give early warnings of recessions in Brazil.

  4. Clinical impact of platelet rich plasma in treatment of gingival recessions

    Directory of Open Access Journals (Sweden)

    Aleksić Zoran

    2008-01-01

    Full Text Available Introduction Root coverage supported with complete regeneration of lost periodontal tissues represents the ultimate goal of gingival recession treatment. Objective This study was designed to evaluate clinical effectiveness of platelet rich plasma gel (PRP with connective tissue graft (CTG in the treatment of gingival recession. METHOD 15 gingival recessions Miller class I or II were treated with CTG and PRP (group PRP. Connective tissue graft was harvested from the premolar region using trap door technique. After elevation of the flap, the regional bone and root surface were smeared with activated PRP gel. CTG was also irrigated with PRP gel before placement over the exposed root surface and local bone. Fixed CTG was covered with a coronally advanced flap. The same number of gingival recessions were treated with CTG in combination with the coronally advanced flap with no PRP gel (group TVT. Clinical recordings included recession depth (RD, probing depth (PD, clinical attachment level (CAL and keratinized tissue width (KT before and 1 year after mucogingival surgical treatment. Results Mean value of RD was significantly decreased from 4.93±0.86 mm to 0.60±0.37 (p<0.01 with CTG and PRP and from 4.76±0.74 mm to 0.63±0.29 mm (p<0.01 in CTG group. This difference was not statistically significant. Results of the keratinized tissue width showed significant increase from 0.88± 0.30 mm presurgery to 3.78±0.49 mm (p<0.01 six months after treatment in PRP group and from 0.90±0.34 mm to 3.15±0.41 in TVT group (p<0.01. This difference was statistically significant (p>0.05. No statistically significant differences were observed between treatment groups in CAL and PD. Conclusion Clinical results validate both procedures as effective and highly predictable surgical techniques in solving gingival recession problem. Histological evaluation may confirm advantage of PRP use related to regeneration of periodontal tissues. .

  5. Genetics Home Reference: severe congenital neutropenia

    Science.gov (United States)

    ... A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ... Genetic Testing Registry: Severe congenital neutropenia 2, autosomal dominant Genetic Testing Registry: Severe congenital neutropenia 3, autosomal ...

  6. 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 ...

  7. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  8. Space, body, time and relationship experiences of recess physical activity

    DEFF Research Database (Denmark)

    Pawlowski, Charlotte Skau; Andersen, Henriette Bondo; Tjørnhøj-Thomsen, Tine

    2016-01-01

    BACKGROUND: Increasing recess physical activity has been the aim of several interventions, as this setting can provide numerous physical activity opportunities. However, it is unclear if these interventions are equally effective for all children, or if they only appeal to children who are already...... the classroom as a space for physical activity, designing schoolyards with smaller secluded spaces and varied facilities, improving children's self-esteem and body image, e.g., during physical education, and creating teacher organised play activities during recess....

  9. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

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

  10. 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.

  11. A Study on the Surface and Subsurface Water Interaction Based on the Groundwater Recession Curve

    Science.gov (United States)

    Wang, S. T.; Chen, Y. W.; Chang, L. C.; Chiang, C. J.; Wang, Y. S.

    2017-12-01

    The interaction of surface to subsurface water is an important issue for groundwater resources assessment and management. The influences of surface water to groundwater are mainly through the rainfall recharge, river recharge and discharge and other boundary sources. During a drought period, the interaction of river and groundwater may be one of the main sources of groundwater level recession. Therefore, this study explores the interaction of surface water to groundwater via the groundwater recession. During drought periods, the pumping and river interaction together are the main mechanisms causing the recession of groundwater level. In principle, larger gradient of the recession curve indicates more groundwater discharge and it is an important characteristic of the groundwater system. In this study, to avoid time-consuming manual analysis, the Python programming language is used to develop a statistical analysis model for exploring the groundwater recession information. First, the slopes of the groundwater level hydrograph at every time step were computed for each well. Then, for each well, the represented slope to each groundwater level was defined as the slope with 90% exceedance probability. The relationship between the recession slope and the groundwater level can then be obtained. The developed model is applied to Choushui River Alluvial Fan. In most wells, the results show strong positive correlations between the groundwater levels and the absolute values of the recession slopes.

  12. The estimation of risks from the induction of recessive mutations after exposure to ionising radiation

    International Nuclear Information System (INIS)

    Searle, A.G.; Edwards, J.H.

    1986-01-01

    Induced recessive mutations can cause harm by (1) partnership with a defective allele already established in the population; (2) partnership with another recessive mutation induced at the same locus; (3) the formation of homozygous descendants, that is, identify by descent; and (4) heterozygous effects. Calculations based on a combination of data from observations on human populations and from mouse experiments suggest that an extra genetically significant dose of 1 cGy X or γ irradiation received by each parent in a stable population with a million liveborn offspring would induce up to 1200 extra recessive mutations. From partnership effects, about one extra case of recessive disease would be expected in the following 10 generations. Homozygosity resulting from identity by descent could not normally occur until the fourth generation after exposure but, on certain assumptions, about ten extra cases of recessive disease would be expected from this cause by the tenth generation. In the same period, about 250 recessive alleles would be eliminated in heterozygotes given 2.5% heterozygous disadvantage. These deleterious heterozygous effects should not be combined with those of dominants, as has been done in some previous risk estimates. It is considered unlikely that many radiation induced recessives would show heterozygous advantage. Certain dominants should be excluded from calculations of mutational risk because they are unlikely to be maintained by mutation. (author)

  13. Nevada, the Great Recession, and Education

    Science.gov (United States)

    Verstegen, Deborah A.

    2013-01-01

    The impact of the Great Recession and its aftermath has been devastating in Nevada, especially for public education. This article discusses the budget shortfalls and the impact of the economic crisis in Nevada using case study methodology. It provides a review of documents, including Governor Gibbon's proposals for the public K-12 education system…

  14. Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

    Science.gov (United States)

    Lewis, R A; Otterud, B; Stauffer, D; Lalouel, J M; Leppert, M

    1990-06-01

    Usher syndrome is a heterogeneous group of autosomal recessive disorders that combines variably severe congenital neurosensory hearing impairment with progressive night-blindness and visual loss similar to that in retinitis pigmentosa. Usher syndrome type I is distinguished by profound congenital (preverbal) deafness and retinal disease with onset in the first decade of life. Usher syndrome type II is characterized by partial hearing impairment and retinal dystrophy that occurs in late adolescence or early adulthood. The chromosomal assignment and the regional localization of the genetic mutation(s) causing the Usher syndromes are unknown. We analyzed a panel of polymorphic genomic markers for linkage to the disease gene among six families with Usher syndrome type I and 22 families with Usher syndrome type II. Significant linkage was established between Usher syndrome type II and the DNA marker locus THH33 (D1S81), which maps to chromosome 1q. The most likely location of the disease gene is at a map distance of 9 cM from THH33 (lod score 6.5). The same marker failed to show linkage in families segregating an allele for Usher syndrome type I. These data confirm the provisional assignment of the locus for Usher syndrome type II to the distal end of chromosome 1q and demonstrate that the clinical heterogeneity between Usher types I and II is caused by mutational events at different genetic loci. Regional localization has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.

  15. Congenital hypothyroidism: insights into pathogenesis and treatment

    OpenAIRE

    Cherella, Christine E.; Wassner, Ari J.

    2017-01-01

    Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly. While newborn screening has virtually eradicated intellectual disability due to severe congenital hypothyroidism in the developed world, more stringent screening strategies have resulted in increased detection of mild congenital hypothyroidism. Recent studies provide conflicting evidence about the potential neurodevelopmental risks...

  16. Gingival abrasion and recession in manual and oscillating-rotating power brush users.

    Science.gov (United States)

    Rosema, N A M; Adam, R; Grender, J M; Van der Sluijs, E; Supranoto, S C; Van der Weijden, G A

    2014-11-01

    To assess gingival recession (GR) in manual and power toothbrush users and evaluate the relationship between GR and gingival abrasion scores (GA). This was an observational (cross-sectional), single-centre, examiner-blind study involving a single-brushing exercise, with 181 young adult participants: 90 manual brush users and 91 oscillating-rotating power brush users. Participants were assessed for GR and GA as primary response variables. Secondary response variables were the level of gingival inflammation, plaque score reduction and brushing duration. Pearson correlation was used to describe the relationship between number of recession sites and number of abrasions. Prebrushing (baseline) and post-brushing GA and plaque scores were assessed and differences analysed using paired tests. Two-sample t-test was used to analyse group differences; ancova was used for analyses of post-brushing changes with baseline as covariate. Overall, 97.8% of the study population had at least one site of ≥1 mm of gingival recession. For the manual group, this percentage was 98.9%, and for the power group, this percentage was 96.7% (P = 0.621). Post-brushing, the power group showed a significantly smaller GA increase than the manual group (P = 0.004); however, there was no significant correlation between number of recession sites and number of abrasions for either group (P ≥ 0.327). Little gingival recession was observed in either toothbrush user group; the observed GR levels were comparable. Lower post-brushing gingival abrasion levels were seen in the power group. There was no correlation between gingival abrasion as a result of brushing and the observed gingival recession following use of either toothbrush. © 2014 The Authors International Journal of Dental Hygiene Published by John Wiley & Sons Ltd.

  17. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  18. Congenital heart disease with high origin of coronary artery

    International Nuclear Information System (INIS)

    Zhu Ming; Li Yuhua; Zhong Yumin

    2002-01-01

    Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

  19. Adult Congenital Heart Disease: Scope of the Problem.

    Science.gov (United States)

    Mazor Dray, Efrat; Marelli, Ariane J

    2015-11-01

    This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2015-07-01

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

  1. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

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

  2. A historical perspective of the effect of the great recession on hospitals.

    Science.gov (United States)

    Shortt, Janet

    2014-08-01

    At 18 months, the Great Recession of December 2007 to June 2009 is the longest recession since World War II. The recession led to soaring unemployment, resulting in loss of employment-based health insurance for millions of people. In addition to seeing increases in uninsured patients, hospitals experienced losses in their investment portfolios, which in turn increased bad debt, charity care, and uncompensated care nationwide. Hospital executives began to devise cost-cutting strategies to balance the rising debt, such as standardizing medical equipment, cutting staff positions, and delaying construction projects and capital expenditures as well as implementing value analysis strategies. The recession is officially over, and, although economic recovery has been slow and unemployment continues to be an issue, hospitals' net revenue started improving as of 2009 and hospital construction started increasing in 2010. Still, caution is warranted in the postrecession climate, because it is unknown what effects will be seen when the Baby Boomer generation begins using Medicare. Copyright © 2014 AORN, Inc. Published by Elsevier Inc. All rights reserved.

  3. 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.

  4. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Freed, M.D.; Keane, J.F.

    1986-01-01

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  5. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

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

    2014-01-01

    INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

  6. Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management.

    Science.gov (United States)

    Sanders, D B; Smith, B P; Sowell, S R; Nguyen, D H; Derby, C; Eshun, F; Nigro, J J

    2014-03-01

    Sickle cell anemia and thalassemia are hemoglobinopathies rarely encountered in the United States. Compounded with congenital heart disease, patients with sickle cell disease (SCD) requiring cardiopulmonary bypass and open-heart surgery represent the proverbial "needle in the haystack". As such, there is some trepidation on the part of clinicians when these patients present for complex cardiac surgery. SCD is an autosomal, recessive condition that results from a single nucleotide polymorphism in the β-globin gene. Hemoglobin SS molecules (HgbSS) with this point mutation can polymerize under the right conditions, stiffening the erythrocyte membrane and distorting the cellular structure to the characteristic sickle shape. This shape change alters cellular transit through the microvasculature. As a result, circumstances such as hypoxia, hypothermia, acidosis or diminished blood flow can lead to aggregation, vascular occlusion and thrombosis. Chronically, SCD can give rise to multiorgan damage secondary to hemolysis and vascular obstruction. This review and case study details an 11-year-old African-American male with known SCD who presented to the cardiothoracic surgical service with congenital heart disease consisting of an anomalous, intramural right coronary artery arising from the left coronary sinus for surgical consultation and subsequent surgical correction. This case report will include a review of the pathophysiology and current literature regarding preoperative, intraoperative and postoperative management of SCD patients.

  7. Impact of the economic recession on the European power sector's CO2 emissions

    International Nuclear Information System (INIS)

    Declercq, Bruno; Delarue, Erik; D'haeseleer, William

    2011-01-01

    This paper investigates the impact of the economic recession on CO 2 emissions in the European power sector, during the years 2008 and 2009. Three main determinants of the power sector's emissions are identified: the demand for electricity, the CO 2 price, and fuel prices. A counterfactual scenario has been set up for each of these, i.e., what these parameters would have been if not affected by the recession. A simulation model of the European power sector is then employed, comparing a historical reference simulation (taking the parameters as actually occurred) with the counterfactual scenarios. The lower electricity demand (due to the recession) is shown to have by far the largest impact, accounting for an emission reduction of about 175 Mton. The lower CO 2 price (due to the recession) resulted in an increase in emissions by about 30 Mton. The impact of fuel prices is more difficult to retrieve; an indicative reduction of about 17 Mton is obtained, mainly as a consequence of the low gas prices in 2009. The simulated combined impact of the parameters results in an emission reduction of about 150 Mton in the European power sector over the years 2008 and 2009 as a consequence of the recession. - Research highlights: → CO 2 emissions are simulated for the European power sector. → Emissions reduced drastically because of the economic recession in 2008 and 2009. → Lower electricity demand had highest impact and accounts for reduction of about 175 Mton. → Impact of different CO 2 and fuel prices on emissions is more limited.

  8. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

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

  9. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  10. Inherited biallelic CSF3R mutations in severe congenital neutropenia.

    Science.gov (United States)

    Triot, Alexa; Järvinen, Päivi M; Arostegui, Juan I; Murugan, Dhaarini; Kohistani, Naschla; Dapena Díaz, José Luis; Racek, Tomas; Puchałka, Jacek; Gertz, E Michael; Schäffer, Alejandro A; Kotlarz, Daniel; Pfeifer, Dietmar; Díaz de Heredia Rubio, Cristina; Ozdemir, Mehmet Akif; Patiroglu, Turkan; Karakukcu, Musa; Sánchez de Toledo Codina, José; Yagüe, Jordi; Touw, Ivo P; Unal, Ekrem; Klein, Christoph

    2014-06-12

    Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children, carried a homozygous missense mutation (NM_000760.3:c.922C>T, NP_000751.1:p.Arg308Cys), which resulted in perturbed N-glycosylation and aberrant localization to the cell surface. Family B, with 1 affected infant, carried compound heterozygous deletions provoking frameshifts and premature stop codons (NM_000760.3:c.948_963del, NP_000751.1:p.Gly316fsTer322 and NM_000760.3:c.1245del, NP_000751.1:p.Gly415fsTer432). Despite peripheral SCN, all patients had morphologic evidence of full myeloid cell maturation in bone marrow. None of the patients responded to treatment with recombinant human G-CSF. Our study highlights the genetic and morphologic SCN variability and provides evidence both for functional importance and redundancy of G-CSF receptor-mediated signaling in human granulopoiesis. © 2014 by The American Society of Hematology.

  11. [Central Nervous Involvement in Patients with Fukuyama Congenital Muscular Dystrophy].

    Science.gov (United States)

    Ishigaki, Keiko

    2016-02-01

    Fukuyama congenital muscular dystrophy (FCMD), the second most common muscular dystrophy in the Japanese population, is an autosomal recessive disorder caused by mutations in the fukutin (FKTN) gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities and central nervous system involvement with mental retardation and seizures associated with cortical migration defects. The FKTN gene product is thought to be necessary for maintaining migrating neurons in an immature state during migration, and for supporting migration via α-dystroglycan in the central nervous system. Typical magnetic resonance imaging findings in FCMD patients are cobblestone lissencephaly and cerebellar cystic lesions. White matter abnormalities with hyperintensity on T(2)-weighted images are seen especially in younger patients and those with severe phenotypes. Most FCMD patients are mentally retarded and the level is moderate to severe, with IQs ranging from 30 to 50. In our recent study, 62% of patients developed seizures. Among them, 71% had only febrile seizures, 6% had afebrile seizures from the onset, and 22% developed afebrile seizures following febrile seizures. Most patients had seizures that were controllable with just 1 type of antiepileptic drug, but 18% had intractable seizures that must be treated with 3 medications.

  12. Population health concerns during the United States' Great Recession.

    Science.gov (United States)

    Althouse, Benjamin M; Allem, Jon-Patrick; Childers, Matthew A; Dredze, Mark; Ayers, John W

    2014-02-01

    Associations between economic conditions and health are usually derived from cost-intensive surveys that are intermittently collected with nonspecific measures (i.e., self-rated health). This study identified how precise health concerns changed during the U.S. Great Recession analyzing Google search queries to identify the concern by the query content and their prevalence by the query volume. Excess health concerns were estimated during the Great Recession (December 2008 through 2011) by comparing the cumulative difference between observed and expected (based on linear projections from pre-existing trends) query volume for hundreds of individual terms. As performed in 2013, the 100 queries with the greatest excess were ranked and then clustered into themes based on query content. The specific queries with the greatest relative excess were stomach ulcer symptoms and headache symptoms, respectively, 228% (95% CI=35, 363) and 193% (95% CI=60, 275) greater than expected. Queries typically involved symptomology (i.e., gas symptoms) and diagnostics (i.e., heart monitor) naturally coalescing into themes. Among top themes, headache queries were 41% (95% CI=3, 148); hernia 37% (95% CI=16, 142); chest pain 35% (95% CI=6, 313); and arrhythmia 32% (95% CI=3, 149) greater than expected. Pain was common with back, gastric, joint, and tooth foci, with the latter 19% (95% CI=4, 46) higher. Among just the top 100, there were roughly 205 million excess health concern queries during the Great Recession. Google queries indicate that the Great Recession coincided with substantial increases in health concerns, hinting at how population health specifically changed during that time. © 2013 Published by American Journal of Preventive Medicine on behalf of American Journal of Preventive Medicine.

  13. [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.

  14. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

    Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

    1987-01-01

    US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

  15. The high-riding superior aortic recess of the pericardium: MRI visualization in a child

    International Nuclear Information System (INIS)

    Cohen, Mervyn; Johnson, Tiffanie; Hoyer, Mark

    2005-01-01

    We report a 4-year-old child with a high-riding superior aortic recess of the pericardium, initially misdiagnosed as a possible vascular malformation. The anatomy of the pericardial recesses is reviewed. (orig.)

  16. Symptoms of Autism among Children with Congenital Deafblindness

    Science.gov (United States)

    Dammeyer, Jesper

    2014-01-01

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

  17. 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...

  18. Sequential segmental classification of feline congenital heart disease.

    Science.gov (United States)

    Scansen, Brian A; Schneider, Matthias; Bonagura, John D

    2015-12-01

    Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

  19. Race/Ethnicity, Educational Attainment, and Foregone Health Care in the United States in the 2007–2009 Recession

    Science.gov (United States)

    Hawkins, Jaclynn M.

    2014-01-01

    Objectives. This study assessed possible associations between recessions and changes in the magnitude of social disparities in foregone health care, building on previous studies that have linked recessions to lowered health care use. Methods. Data from the 2006 to 2010 waves of the National Health Interview Study were used to examine levels of foregone medical, dental and mental health care and prescribed medications. Differences by race/ethnicity and education were compared before the Great Recession of 2007 to 2009, during the early recession, and later in the recession and in its immediate wake. Results. Foregone care rose for working-aged adults overall in the 2 recessionary periods compared with the pre-recession. For multiple types of pre-recession care, foregoing care was more common for African Americans and Hispanics and less common for Asian Americans than for Whites. Less-educated individuals were more likely to forego all types of care pre-recession. Most disparities in foregone care were stable during the recession, though the African American–White gap in foregone medical care increased, as did the Hispanic–White gap and education gap in foregone dental care. Conclusions. Our findings support the fundamental cause hypothesis, as even during a recession in which more advantaged groups may have had unusually high risk of losing financial assets and employer-provided health insurance, they maintained their relative advantage in access to health care. Attention to the macroeconomic context of social disparities in health care use is warranted. PMID:24328647

  20. Oil Price Rise and the Great Recession of 2008

    Directory of Open Access Journals (Sweden)

    Mehdi Siamak MONADJEMI

    2017-02-01

    Full Text Available The financial crises of 2007-2008, caused wide-spread falling output and unemployment, in the affected countries and also globally. The severity of the recession was such that it was called the “Great Recession”. As a result of an increase in demand from China and India, at the same time, oil prices rose significantly. The empirical results from this study show that oil price changes negatively affected global growth rate in the 1970s but not in the 1990s and 2000s. These results suggest that the Great Recession in 2008 that initiated by the financial crises, was independent of a significant rise in oil prices.