126 results match your criteria Elejalde Syndrome

Studies via X-ray analysis on intermolecular interactions and energy frameworks based on the effects of substituents of three 4-aryl-2-methyl-1H-imidazoles of different electronic nature and their in vitro antifungal evaluation.

Acta Crystallogr C Struct Chem 2018 11 23;74(Pt 11):1447-1458. Epub 2018 Oct 23.

Bioorganic Compounds Research Group, Department of Chemistry, Universidad de los Andes, Carrera 1 No. 18A 10, Bogotá 111711, Colombia.

The crystal structures of 2-methyl-4-phenyl-1H-imidazole, CHN, (3a), 4-(4-chlorophenyl)-2-methyl-1H-imidazole hemihydrate, CHClN·0.5HO, (3b), and 4-(4-methoxyphenyl)-2-methyl-1H-imidazole, CHNO, (3c), have been analyzed. It was found that the electron-donating/withdrawing tendency of the substituent groups in the aryl ring influence the acid-base properties of the 2-methylimidazole nucleus, changing the strength of the intermolecular N-H. Read More

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November 2018

Power structure in Chilean news media.

PLoS One 2018 6;13(6):e0197150. Epub 2018 Jun 6.

Department of Computer Science, University of Chile, Santiago, Chile.

Even democracies endowed with the most active free press struggle to maintain diversity of news coverage. Consolidation and market forces may cause only a few dominant players to control the news cycle. Editorial policies may be biased by corporate ownership relations, narrowing news coverage and focus. Read More

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November 2018

On the nature of real and perceived bias in the mainstream media.

PLoS One 2018 23;13(3):e0193765. Epub 2018 Mar 23.

Institute for Computing and Information Sciences, Radboud Universiteit, Nijmegen, Netherlands.

News consumers expect news outlets to be objective and balanced in their reports of events and opinions. However, there is a growing body of evidence of bias in the media caused by underlying political and socio-economic viewpoints. Previous studies have tried to classify the partiality of the media, but there is little work on quantifying it, and less still on the nature of this partiality. Read More

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Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes.

Int J Trichology 2017 Jan-Mar;9(1):38-41

Department of Pediatrics, Division of Pediatric Neurology, Rainbow Children's Tertiary Care Centre, Hyderabad, Telangana, India.

Gray hair syndromes are rare syndromes which have an autosomal recessive inheritance and are characterized by pigmentary dilution of skin and hair, defects in immunological function, and nervous system defects. They comprise three disorders namely Chediak-Higashi syndrome (CHS), Griscelli syndrome (GPS), and Elejalde syndrome. Clinically, it is difficult to distinguish these disorders as their clinical features may overlap. Read More

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August 2017
4 Reads

Spontaneous repigmentation of silvery hair in an infant with congenital hydrops fetalis and hypoproteinemia.

Cutis 2016 Jun;97(6):E1-5

Department of Dermatology, Hospital Clínic, University of Barcelona, Spain.

Silvery hair is a characteristic finding of 3 rare autosomal recessive disorders: Chédiak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Griscelli syndrome (GS). We report the case of a 2-month-old male infant with transient silvery hair and generalized hypopigmentation of the skin and eyes who did not have one of these classic causative disorders. The patient was delivered at 35 weeks' gestation with congenital hydrops fetalis associated with a chromosomal abnormality (46,XY,add[2],[p23]), hypothyroidism, hypoproteinemia, and hypogammaglobulinemia. Read More

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June 2016
29 Reads

Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings.

Int J Trichology 2015 Jul-Sep;7(3):133-5

Department of Dermatology and Venereology, Vijayanagara Institute of Medical Sciences, Bellary, Karnataka, India.

Silvery hair is a common feature of Chediak-Higashi syndrome (CHS), Griscelli syndrome, and Elejalde syndrome. CHS is a rare autosomal recessive disorder characterized by partial oculocutaneous albinism, frequent pyogenic infections, and the presence of abnormal large granules in leukocytes and other granule containing cells. A 6-year-old girl had recurrent respiratory infections, speckled hypo- and hyper-pigmentation over exposed areas, and silvery hair since early childhood. Read More

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December 2015
4 Reads

Elejalde syndrome (ES).

Dermatol Online J 2015 Feb 22;21(3). Epub 2015 Feb 22.


Silvery hair and severe dysfunction of the central nervous system (Neuroectodermal melanolysosomal disease or Elejalde Syndrome) characterize this rare autosomal recessive syndrome. The main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement. Large granules of melanin unevenly distributed in the hair shaft are observed. Read More

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February 2015
6 Reads

Impact of a self-care education programme on patients with type 2 diabetes in primary care in the Basque Country.

BMC Public Health 2013 May 29;13:521. Epub 2013 May 29.

Pasajes San Pedro Health Centre, Osakidetza, c/ Marinos nº 1, Pasajes San Pedro, Gipuzkoa 20110, Spain.

Background: Type 2 diabetes mellitus (DM2) is a disease with high prevalence and significant impact in terms of mortality and morbidity. The increased prevalence of the disease requires the implementation of new strategies to promote patient self-management. The Spanish Diabetes Self-Management Program (SDSMP) has proven to be effective in other settings. Read More

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May 2013
12 Reads

Silvery grey hair: clue to diagnose immunodeficiency.

Int J Trichology 2012 Apr;4(2):83-5

Department of Dermatology, STD and Leprosy, Bangalore Medical College and Research Institute, Bangalore, Karnataka, India.

Silvery hair is a common presentation of rare group of autosomal recessive disorders called Silvery hair syndromes including Griscelli syndrome (GS), Chediak-Higashi syndrome, and Elejalde syndrome. GS is characterized by a silvery grey sheen to hair, large clumped melanosomes in hair shaft, partial albinism, and variable cellular immunodeficiency. We report two cases of GS with classical clinical features and confirmatory findings by microscopic skin and hair examination. Read More

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April 2012
4 Reads

Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients.

Eur J Pediatr 2012 Oct 19;171(10):1527-31. Epub 2012 Jun 19.

Division of Pediatric Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey.

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by partial albinism. Three different types are caused by defects in three different genes. Patients with GS type 1 have primary central nervous system dysfunction, type 2 patients commonly develop hemophagocytic lymphohistiocytosis, and type 3 patients have only partial albinism. Read More

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October 2012
10 Reads

Ochratoxin A removal from red wine by several oenological fining agents: bentonite, egg albumin, allergen-free adsorbents, chitin and chitosan.

Food Addit Contam Part A Chem Anal Control Expo Risk Assess 2012 30;29(7):1168-74. Epub 2012 Apr 30.

TECNALIA, Biotechnology & Pharma Unit, Technological Park of Alava, Leonardo da Vinci 11, E-01510 Miñano, Spain.

The ability of several oenological fining agents to remove ochratoxin A (OTA) from red wine was studied. The adsorbents tested were activated sodium bentonite, egg albumin, allergen-free adsorbents (complex PVPP, plant protein and amorphous silica (complex) and high molecular weight gelatine), and the non-toxic biodegradable polymers (chitin and chitosan). Several dosages within the oenological use range were tested and the wine pH, colour parameters and polyphenol concentration impact associated with each fining agent were studied. Read More

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September 2012
21 Reads

Sibs with acrocephalopolydactylous dysplasia (Elejalde syndrome) in a non-consanguineous family.

Fetal Pediatr Pathol 2012 Jun 13;31(3):140-4. Epub 2012 Mar 13.

Department of Pediatrics, Sinai Children's Hospital, Chicago, Illinois 87020, USA.

Acrocephalopolydactylous dysplasia, (Elejalde syndrome) is a rare condition; only six cases have been reported to date. We describe two infants born with Elejalde syndrome (ES); compare the clinical, pathological, and histological findings with those of known cases of Elejalde syndrome. The post-mortem histology study of the skin shows hyperplasia of connective tissues, a diagnostic sign in this condition. Read More

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June 2012
3 Reads

Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations.

Int J Trichology 2011 Jul;3(2):107-11

Deparments of Dermatology, Venereology and Leprosy, PESIMSR, Kuppakm, Andhra Pradesh, India.

Silvery hair is a rare clinical manifestation which is a common presentation in a group of rare syndromes which usually present in the pediatric age group together termed as "silvery hair syndrome," consisting of Chediak-Higashi syndrome (CHS), Griscelli syndrome (GS), and Elejalde disease. CHS is a rare autosomal recessive disorder. It is characterized by mild pigment dilution (partial oculocutaneous albinism), silvery blond hair, severe phagocytic immunodeficiency, bleeding tendencies, recurrent pyogenic infections, progressive sensory or motor neurological defects. Read More

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July 2011
56 Reads

Essential oils of Cupressus funebris, Juniperus communis, and J. chinensis (Cupressaceae) as repellents against ticks (Acari: Ixodidae) and mosquitoes (Diptera: Culicidae) and as toxicants against mosquitoes.

J Vector Ecol 2011 Dec;36(2):258-68

USDA, ARS, Invasive Insect Biocontrol and Behavior Laboratory, Beltsville Agricultural Research Center, Beltsville, MD 20705, USA.

Juniperus communis leaf oil, J. chinensis wood oil, and Cupressus funebris wood oil (Cupressaceae) from China were analyzed by gas chromatography and gas chromatography-mass spectrometry. We identified 104 compounds, representing 66. Read More

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December 2011
20 Reads

A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanism underlying neurological disorder in myosin Va disease.

J Neurosci 2011 Apr;31(16):6067-78

Department of Physiology, Tokyo Women's Medical University School of Medicine, Tokyo 162-8666, Japan.

Mutations of the myosin Va gene cause the neurological diseases Griscelli syndrome type 1 and Elejalde syndrome in humans and dilute phenotypes in rodents. To understand the pathophysiological mechanisms underlying the neurological disorders in myosin Va diseases, we conducted an integrated analysis at the molecular, cellular, electrophysiological, and behavioral levels using the dilute-neurological (d-n) mouse mutant. These mice manifest an ataxic gait and clonic seizures during postnatal development, but the neurological disorders are ameliorated in adulthood. Read More

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April 2011
4 Reads

The expanding spectrum of Elejalde syndrome: overlap with other disorders of overgrowth.

Clin Dysmorphol 2011 Apr;20(2):98-101

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.

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April 2011
2 Reads

Novel carboxamides as potential mosquito repellents.

J Med Entomol 2010 Sep;47(5):924-38

Center for Heterocyclic Compounds, University of Florida, Department of Chemistry, Gainesville, FL 32611, USA.

A model was developed using 167 carboxamide derivatives, from the United States Department of Agriculture archival database, that were tested as arthropod repellents over the past 60 yr. An artificial neural network employing CODESSA PRO descriptors was used to construct a quantitative structure-activity relationship model for prediction of novel mosquito repellents. By correlating the structure of these carboxamides with complete protection time, a measure of repellency based on duration, 34 carboxamides were predicted as candidate mosquito repellents. Read More

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September 2010
8 Reads

Perspectives on craniosynostosis: sutural biology, some well-known syndromes, and some unusual syndromes.

M Michael Cohen

J Craniofac Surg 2009 Mar;20 Suppl 1:646-51

Department of Pediatrics, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

Perspectives on craniosynostosis are discussed under the following headings: sutural biology (anatomic and genetic categories of synostosis; sutures, suture systems, and types of craniosynostosis; well-known syndromes (Muenke syndrome and Pfeiffer syndrome); and unusual syndromes (thanatophoric dysplasia, Beare-Stevenson cutis gyrata syndrome, Crouzonodermoskeletal syndrome, Carpenter syndrome, Elejalde syndrome, hypomandibular faciocranial syndrome, and craniorhiny). Five of these syndromes are caused by fibroblast growth factor receptor (FGFR) mutations; one is caused by ras-like in rat brain 23 (RAB23) mutations; and three have Mendelian patterns of inheritance, but the molecular basis remains unknown to date. Read More

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March 2009
9 Reads

Temporal speciation pattern in the western Mediterranean genus Tudorella P. Fischer, 1885 (Gastropoda, Pomatiidae) supports the Tyrrhenian vicariance hypothesis.

Mol Phylogenet Evol 2010 Feb 20;54(2):427-36. Epub 2009 Sep 20.

LabCentre, Research Centre Biodiversity & Climate, Siesmayerstrasse 70, 60323 Frankfurt, Germany.

The land snail genus Tudorella shows a peculiar disjunct distribution around the western Mediterranean coasts. Despite high phenotypic plasticity, only two species with a disputed number of subspecific taxa are currently recognised. We delimited the species with mitochondrial (COI & 16S) and nuclear (ITS-1) markers based on the unified species concept and suggested that there are eight species in the genus, two of them currently undescribed. Read More

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February 2010
5 Reads

Neurodegenerative disorders with hair abnormalities: an emergency room consultation for dermatologists.

Int J Trichology 2009 Jan;1(1):30-2

Departments of Dermatology, Venereology and Leprosy, SBMP Medical College, Hospital and Research Center, BLDE University, Bijapur, Karnataka, India.

Menke's syndrome and Elejalde disease are the two neurodegenerative disorders of dermatological interest. These patients present with characteristic hair changes which may be of diagnostic value in resource-poor setup where facilities for specific genetic analysis are not available. Simple light microscopic examination of hair may be a helpful diagnostic tool to pick up such cases. Read More

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January 2009
3 Reads

Role of Myosin Va in the plasticity of the vertebrate neuromuscular junction in vivo.

PLoS One 2008 5;3(12):e3871. Epub 2008 Dec 5.

Institute of Toxicology and Genetics, Research Center Karlsruhe, Eggenstein-Leopoldshafen, Germany.

Background: Myosin Va is a motor protein involved in vesicular transport and its absence leads to movement disorders in humans (Griscelli and Elejalde syndromes) and rodents (e.g. dilute lethal phenotype in mice). Read More

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January 2009
1 Read

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.

Braz J Med Biol Res 2008 Oct;41(10):839-48

Departamento de Biologia Celular e Molecular e Bioagentes Patogênicos, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. Read More

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October 2008
7 Reads

Silvery hair with bronze-tan in a child: A case of Elejalde disease.

Indian J Dermatol Venereol Leprol 2007 Nov-Dec;73(6):417-9

Department of Dermatology, Venereology and Leprosy, BLDEA's SBMP Medical College, Hospital and Research Centre, Bijapur, Karnataka, India.

A 5-year-old boy was admitted for severe neurological impairment including hypotonia and loss of consciousness without preceding febrile illness. On examination, he had silver colored hair and bronze-tan over photo-exposed body parts. He was born of consanguineous parents and three of his elder siblings, who died in early childhood, had similar colored hair. Read More

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February 2008

Elejalde syndrome: clinical and histopathological findings in an Egyptian male.

Genet Couns 2007 ;18(2):179-88

Clinical Genetics Department, National Research Centre, Dokki, Giza, Cairo, Egypt.

Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since birth, generalized hypopigmentation, severe primary central nervous system dysfunction, and normal hematological and immunologic profiles. Read More

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October 2007
3 Reads

Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.

Chih-Ping Chen

Taiwan J Obstet Gynecol 2007 Jun;46(2):111-20

Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.

Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders. Read More

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June 2007
5 Reads

Real-time, ultralow concentration detection of analytes in solution by infrared intracavity laser absorption.

Appl Opt 2007 Jul;46(19):3995-9

Institute of Photonics, University of Strathclyde, SUPA, Wolfson Centre, Glasgow, UK.

Two intracavity laser absorption techniques for ultralow concentration detection of chemicals in solution are compared. The first consists of a laser diode in a grating extended cavity, which produces a linear calibration curve for parts in 10(9) (ppb) concentrations corresponding to 17 nM. By replacing the grating with a highly reflective mirror, parts in 10(12) (ppt) concentration detection is achieved, which corresponds to 340 pM. Read More

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July 2007
3 Reads

Retention of radium from thermal waters on sand filters and adsorbents.

J Hazard Mater 2007 Jun 30;144(3):645-8. Epub 2007 Jan 30.

Dpto. de Ingeniería Nuclear y Mecánica de Fluidos, Escuela Técnica Superior de Ingeniería, Alameda de Urquijo s/n, 48013 Bilbao, Spain.

This study was focussed on laboratory experiences of retention of radium from one thermal water on sand filters and adsorbents, trying to find an easy method for the elimination in drinkable waters polluted with this natural radio-nuclide. A thermal water from Cantabria (Spain) was selected for this work. Retention experiences were made with columns of 35 mm of diameter containing 15 cm layers of washed river sand or 4 cm layers of zeolite A3, passing known volumes of thermal water at flows between 4 and 40 ml/min with control of the retained radium by determining the amount in the water after the treatment. Read More

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Elejalde syndrome--a case report.

Am J Med Genet A 2006 Oct;140(20):2223-6

Department of Medical Genetics, Faculty Hospital, Ostrava, Czech Republic.

Elejalde syndrome (McKusick 200995), also known as acrocephalopolydactylous dysplasia, is a rare condition. We describe a sixth patient with this syndrome which is characterized by craniosynostosis and hyperproliferation of fibroblasts in many tissues including skin, liver, kidney, and pancreas. The cause of the syndrome is the homozygous state of an autosomal recessive mutation. Read More

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October 2006
6 Reads

[Working better in complex clinical situations: the experience of interinstitutional and transcultural seminars].

Sante Ment Que 2005 ;30(2):281-99

Hôpital Sainte-Justine, Montréal.

The new sociocultural realities of Québec society provide the opportunity to rethink practices in the field of mental health, particularly in regards to clinical assessments. Although remaining in part objective, clinical assessments are invariably strongly coloured by the sociocultural contexts where theoretical approaches and practical assessment tools are developed. Clinicians' institutional mandates also influence the ways in which they consider and proceed with the process of assessing. Read More

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March 2006
25 Reads

[Prognostic value of the reception, attendance and classification of patients in the emergency department of a tertiary hospital].

An Sist Sanit Navar 2005 May-Aug;28(2):177-88

Servicio de Urgencias, Hospital de Navarra, Pamplona, 31008, Spain.

Background: The objective of this investigation is to study the usefulness, validity and reproducibility of the reception, attendance and classification of emergency cases employed by nurses in the emergency department of a tertiary hospital (Hospital de Navarra, Pamplona, Spain) (RACHN).

Material And Methods: By studying the proportion of emergencies classified according to our triage system (reception, attendance and classification [recepción, acogida y clasificación] at the Hospital de Navarra, RACHN), we carried out a transversal descriptive study between 3rd November and 17th November 2003 to evaluate the concordance between the level of severity assigned by a nurse using the RACHN triage system and that determined by a senior doctor. In addition, we evaluated the discrepancy between the degree of severity assigned by a nurse using the triage system and the level of severity determined by a senior doctor and that between the request for complementary tests by the nurse with the opinion of a senior doctor. Read More

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November 2005

[Metabolic emergencies in the oncology patient].

J L Elejalde

An Sist Sanit Navar 2004 ;27 Suppl 3:53-62

Servicio de Urgencias, Hospital Virgen del Camino, Pamplona.

Amongst the principal metabolic situations that can require emergency attention in the oncology patient we find: hypercalcaemia, hyponatraemia, tumoural lysis syndrome, lactic acidosis, hyperuricaemia, renal failure, hyperammonaemia, hypermpotasaemia, etc. Hypercalcaemia is the most frequent metabolic complication in oncology, appearing in 10-30% of these patients. It has two main mechanisms, tumoural lysis and humoural hypercalcaemia mediated by PTHrP (a protein related to parathormone). Read More

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December 2005
3 Reads

Myosin Va is required for normal photoreceptor synaptic activity.

J Cell Sci 2004 Sep 17;117(Pt 19):4509-15. Epub 2004 Aug 17.

MRC Institute of Hearing Research, University Park, Nottingham, NG7 2RD, UK.

Myosin Va is an actin-based motor molecule, one of a large family of unconventional myosins. In humans, mutations in MYO5A cause Griscelli syndrome type 1 and Elejalde syndrome, diseases characterized by pigmentation defects and the prepubescent onset of severe neurological deficits that ultimately lead to a shortened lifespan. Mutations in the Myo5a gene in mouse cause the dilute series of mouse mutants, demonstrating that myosin Va is involved in pigmentation and neural function. Read More

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September 2004
1 Read

Elejalde syndrome: report of a case and review of the literature.

Pediatr Dermatol 2004 Jul-Aug;21(4):479-82

Department of Dermatology, Hospital das Clínicas, University of Sao Paulo Medical School, Sao Paulo, Brazil.

Elejalde syndrome is a rare autosomal recessive condition, with only 10 reported cases through 2001. It is characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. The differential diagnosis includes Griscelli and Chediak-Higashi syndromes, which present with silvery hair, pigment abnormalities, central nervous system alterations, and severe immunologic dysfunction. Read More

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November 2004
5 Reads

Determination and analysis of distribution coefficients of 137Cs in soils from Biscay (Spain).

Environ Pollut 2000 Oct;110(1):157-64

Departamento de Ingeniería Nuclear y Mecánica de Fluidos, Escuela Superior de Ingenieros, Alameda de Urquijo s/n, 48013 Bilbao, Spain.

The distribution coefficient of (137)Cs has been determined in 58 soils from 12 sampling points from Biscay by treating 10 g with 25 ml of an aqueous solution with an activity of 1765 Bq in the radionuclide, by shaking during 64 h and measuring the residual activity with a suitable detector. Soils were characterised by sampling depth, particle size analysis and the usual chemical parameters. Soils were thereafter treated to fix the chemical forms of (137)Cs speciation by successive extractions in order to determine fractions due to exchangeable, associated with carbonates, iron oxide and organic matter fractions, obtaining by difference the amount taken by the rest of the soil constituents. Read More

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October 2000

Syndromic albinism: a review of genetics and phenotypes.

Dermatol Online J 2003 Dec;9(5)

Department of Dermatology, St. Luke's-Roosevelt Hospital Center, New York, USA.

There are several syndromes of albinism associated with systemic pathology. These include Chediak-Higashi Syndrome (CHS), Hermansky-Pudlack Syndrome (HPS), Griscelli Syndrome (GS), Elejalde Syndrome (ES) and Cross-McKusick-Breen Syndrome (CMBS). In the last several years the genetic defects underlying some of these syndromes have been described. Read More

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December 2003
12 Reads

Drug abuse with inhalated xylazine.

Eur J Emerg Med 2003 Sep;10(3):252-3

Department of Emergency Medicine, Hospital of Navarra, Pamplona, Spain.

Given the difficulty of obtaining traditionally illicit drugs, consumption is turning towards less restricted products. We report the case of an 18-year-old man, who after inhaling xylazine (a non-narcotic sedative used in veterinary medicine for analgesia, hypnosis and muscle relaxation) presented with an episode of chills and dizziness followed by sweating, gait instability, palpitations and two episodes of syncope with bradycardia and hypotension. Ten cases of toxicity caused by xylazine consumption by oral and parenteral administration (intramuscular, subcutaneous, and intravenous) have been documented in humans. Read More

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September 2003
1 Read

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.

Am J Med Genet A 2003 Feb;116A(4):329-33

Ege University Medical School, Division of Pediatric Immunology, Izmir, Turkey.

We present an eleven-year-old female patient who was referred to us with silvery hair, hepatosplenomegaly, neutropenia-thrombocytopenia, hypogammaglobulinemia and degenerative white matter disease, with a family history of a female sibling dying at the age of five and two living male cousins, ages 10 and 11. She had been followed up for her cytopenia the last three years and had totally recovered from a hemiplegic episode before admission. The family was of Arabic origin, and a second-degree consanguinity was reported between the parents. Read More

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February 2003
7 Reads

Relationship between periodontal disease in pregnant women and the nutritional condition of their newborns.

J Periodontol 2002 Oct;73(10):1177-83

Dental Faculty, Department of Periodontics, University of Zulia, Maracaibo, Venezuela.

Background: The purpose of this study was to determine whether maternal periodontal disease (PD) could be associated with the nutritional condition of newborns.

Methods: After controlling for traditional risk factors for premature childbirth and low birth weight, 69 mothers were selected: 13 were periodontally healthy and 56 had varying stages of PD. They and their newborns formed the study population. Read More

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October 2002
7 Reads

Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.

Am J Hum Genet 2002 Aug 7;71(2):407-14. Epub 2002 Jun 7.

Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, 10 Center Drive, Bethesda, MD 20892-1830, USA.

Griscelli syndrome (GS), a rare autosomal recessive disorder, is characterized by partial albinism, along with immunologic abnormalities or severe neurological impairment or both. Mutations in one of two different genes on chromosome 15q can cause the different subtypes of GS. Most patients with GS display the hemophagocytic syndrome and have mutations in RAB27A, which codes for a small GTPase. Read More

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August 2002
21 Reads

Single photon emission computerized tomography (SPECT) in detecting neurodegeneration in Huntington's disease.

Nucl Med Commun 2002 Jan;23(1):13-8

Medical College of Wisconsin, Milwaukee, WI, USA.

Single photon emission computerized tomography (SPECT) studies were performed on 34 manifest Huntington's disease (HD) patients at various stages of clinical pathology ranging from early chorea to late dystonia with or without signs of dementia and 12 pre-symptomatic patients with abnormal terminal CAG expansions. Thirty HD patients with obvious clinical signs and seven pre-symptomatic patients without signs or symptoms of HD displayed selective caudate hypoperfusion by direct visual inspection. Such qualitative, selective striatal hypoperfusion patterns can be indicative of early and persistent metabolic changes in striatal neuropathology. Read More

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January 2002

90Sr content of soils from Biscay (Spain).

Appl Radiat Isot 2001 Oct;55(4):521-5

Dpt. Ing Nuclear y Mec. de Fluidos, Univ. del País Vasco, Bilbao, Spain.

The concentrations of 90Sr at different depth levels have been determined in 55 soils from 11 points at Biscay (Spain) by extracting this radionuclide from 30 g samples. It was measured by beta-counting after purification. The concentrations of 137Cs in the same soils are known from previous studies. Read More

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October 2001

[Acrocephalopolydactylous dysplasia (Elejalde syndrome)].

M Matsuo

Ryoikibetsu Shokogun Shirizu 2001 (33):115-6

Division of Medical Genetics, Kanagawa Children's Medical Center/Department of Pediatrics, Tokyo Women's Medical University.

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October 2001
2 Reads

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

Am J Hum Genet 2001 May 29;68(5):1102-9. Epub 2001 Mar 29.

UCLA, Department of Human Genetics, Los Angeles, CA, 90095, USA.

Wnt-4, a member of the Wnt family of locally acting secreted growth factors, is the first signaling molecule shown to influence the sex-determination cascade. In mice, a targeted deletion of Wnt-4 causes the masculinization of XX pups. Therefore, WNT-4, the human homologue of murine Wnt-4, is a strong candidate gene for sex-reversal phenotypes in humans. Read More

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12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease).

Am J Med Genet 2001 Feb;98(4):313-6

Department of Pediatrics, Medical Genetics, Washington University School of Medicine, St. Louis, Missouri.

Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes. Read More

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February 2001
3 Reads

Dynamic rhinoplasty for the plunging nasal tip: functional unity of the inferior third of the nose.

Plast Reconstr Surg 2000 Dec;106(7):1624-9

Plastic Surgery Unit, Dr. V. San Sebastian Clinic, Bilbao, Spain.

To achieve permanent results for the correction of a drooping nasal tip, it is important to understand the mechanism responsible for the caudal rotation of the tip when a person speaks or smiles. This mechanism can be considered to depend on a "functional unity" formed by three components: (1) the cartilaginous framework (alar cartilages and accessories acting as a single structure); (2) muscular motors (m. levator labii superioris alaeque nasi and depressor septi nasi); and (3) gliding areas (apertura piriformis, the valvular mechanism between the upper lateral cartilages and alar cartilages, the lax tissue of the nasal dorsum, and the membranous septum). Read More

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December 2000

Elejalde syndrome revisited.

Arch Dermatol 2000 Jan;136(1):120-1

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January 2000
5 Reads

Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients.

Arch Dermatol 1999 Feb;135(2):182-6

Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.

Background: Silvery hair and severe dysfunction of the central nervous system (neuroectodermal melanolysosomal disease or Elejalde syndrome) characterize this rare autosomal recessive disease. Main clinical features include silver-leaden hair, bronze skin after sun exposure, and neurologic involvement (seizures, severe hypotonia, and mental retardation). Large granules of melanin unevenly distributed in the hair shaft are observed. Read More

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February 1999
8 Reads

Determination of acids and volatile compounds in red Txakoli wine by high-performance liquid chromatography and gas chromatography.

J Chromatogr A 1998 Oct;823(1-2):349-54

Departamento de Química Orgánica, Facultad de Ciencias, Universidad del País Vasco, Bilbao, Spain.

The Txakoli is a wine from the north of Spain with acid characteristics and medium ethanol content. We report the comparative results obtained from red Txakoli elaborated with different grape varieties. We have used chromatographic methods for the characterization of this wine. Read More

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October 1998