S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100001 Aislamiento de Escherichia coli O157: H7 a partir de heces de niños con síndrome urémico hemolítico Martínez Martina Herrera Marco Luis ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera División de Microbiología Laboratorio Clínico San José Costa Rica 1997 1997 32 5 8

Se presenta el primer reporte en Costa Rica de aislamiento de 2 cepas de Escherichia coli O157:H7 como causa de diarrea asociada a síndrome urémico hemolítico (SUH). Se trata de 4 casos estudiados en el Hospital Nacional de Niños de Costa Rica, procedentes de diferentes zonas del país y sin relación epidemiológica entre ellos. Se recomienda más atención en la búsqueda de esta bacteria en los casos de diarrea y sugestivos de SUH.

We present the first report in Costa Rica of isolation of 2 strains of Escherichia coli O157:H7 as the ethilogical agent of diarrhoea associated to the uremic hemolytic syndrome. They were 4 cases studied at the National Childrens Hospital of Costa Rica: they were coming from different areas of the country without epidemiological relation among them. We recommend special attention to this bacteria in the study of those cases with diarrhoea and that also suggest an uremic hemolytic syndrome.

 Binder H A newlly recognized source of Escherichia coli O157:H7 infections Gastroenterology 1995 108 Boyce T Swerdlow D Escherichia coli O157:H7 and the hemolytic-uremic syndrome New Eng. J. Med 1995 333 Boyce T Pemberton A Screening for Escherichia coli O157:H7 a nationwide survey of clinical laboratories J. Clin. Microbiol. 1995 33 Update: Multistate outbreak of E. coli O157:H7 infections from hamburgers-western United States MMWR 1993 42 Outbreak of Escherichia coli O157:H7 Infection-Georgia and Tennessee, June 1995 JAMA 1996 275 Editorial Response: Surveillance of Escherichia coli O157:H7-A necessity for the prevention of an emerging infectious disease Clin. Infect. Dis 1994 19 Gray L Murray P Bonone S Escherichia, Salmonella, Shigella & Yersinia Manual of clinical microbiology Manual of clinical microbiology 1995 6 Washington American Society of Microbiology Griffim P Tauxe R The epidemiology of infections caused by E. coli O157:H7, enterohemorrhagic E. coli, and associated hemolytic uremic syndrome Epidemiol. Rev 1991 13 Kay B Griffim P Too fast food: bloody diarrhoea and death from E. coli O157:H7 Clin. Microbiol. News 1994 16 Rodríguez D Mast E An university autobreak of escherichia coli O157:H7 infections associated with roast beef and an unusually bening clinical course J. Infect. Dis. 1995 Su Ch Brandt L Escherichia coli O157:H7 infection in humans Ann. Intern. Med 1995 123 Tarr P Escherichia coli O157:H7:clinical, diagnostic and epidemiological aspects of human infection Clin. Infect. Dis 1995 Waters J Sharp J Dev V Infection caused by Escherichia coli O157:H7 in Alberta, Canada, and in Scotland: A Five-year review, 1987-1991 Clin. Infect. Dis 1994
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100002 Frecuencia del síndrome de X-Frágil en la consulta de genética del Hospital Nacional de Niños Venegas Patricia Fallas Ana Virginia Rivera Julio Sánchez María A ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Sección de Citogenética Laboratorio Clínico 1997 1997 32 9 12

Discutimos la importancia de la detección del cromosoma X-Frágil en los estudios de retardo mental que afecta principalmente varones, que es hereditario y que en nuestro medio se presenta como un síndrome de discapacidad mental. Estudiamos 150 niños con retardo mental que fueron enviados a nuestro laboratorio para estudio citogenético por X-Frágil, entre enero de 1995 y julio de 1997. Encontramos 10,6% de positivos; 8,6% varones y 2% de niñas.

We discussed the importance of the X-Fragile citogenetic studies in the mental retardation that affects mainly men, is hereditary and in our media presents a mental discapacity syndrome. We studied 150 children with mental retardation, since January 1995 and July 1997. They were refered to our laboratory for X-Fragile analysis. We got 10, 6% of positives: 8,6% boys and 2% girls.

 Castro I Ccuenca P Frecuencia del síndrome del cromosoma X-Frágil en la Escuela de Enseñanza Especial "Fernando Centeno Güell" Acta Pediátrica Costarricense 1996 10 David N Fragile X syndrome Review and current status, Growth, Genetic & Hormones 1993 9 Estévez-González A Roig C Piles S Fragile X syndrome and mental retardation Rev. Neurol 1997 143 Evan E Eichler S Richard A Fine structure of the human FMR1 gene Human Molecular Genetics 1993 2 Kirchgessner C Warren S Willard H X inactivation of the FMR1 fragile X mental retardation gene J. Med. Genet 1995 32 Marini T Pflueger S Jackson A A five-year experience with fragile X testing Setting laboratory standards of practice and cost-effective protocol Diagn. Mol. Pathol 1997 6 Boletín Estadístico 1994 23 Ying-Hui Fu Kuhl D Pizzuti A Variation of the CGG repeat at the Fragile X site results in genetic inestability, Resolution of the Sherman Paradox Cell 1991 77
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100003 Manejo del paciente politraumatizado y emergencia masiva en el banco de sangre Contreras Patricia del Valle Luis Esquivel María E Sancho Yalile Durán Alfonso ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Banco de Sangre Laboratorio Clínico San José Costa Rica 1997 1997 32 13 15

Se presenta un programa establecido en el Banco de Sangre del Hospital Nacional de Niños de Costa Rica, para situaciones de emergencia. Consiste en el envío de GRE O Rho(D) positivo reconstituidos con suero fisiológico tibio sin que aun se haya hecho la determinación del grupo sanguíneo y pruebas de compatibilidad. El procedimiento agiliza la transfusión de sangre pues se disminuye la viscosidad considerablemente, se evita la sensibilización innecesaria por otros antígenos sanguíneos y a la vez disminuye los errores clericales que ocurren en estas situaciones de emergencia. Se presenta la experiencia obtenida entre octubre de 1993 y abril de 1994.

This is protocol, stablished in the Hospital Nacional de Niños of Costa Rica Bood Bank, for emergency situations. We transfuse packed red blood cells (O positive) mixed with warm saline (0.9%), without blood type or cross match. This procedure reduce viscosity, the risk of ABO reactions and eliminate the posibility of clerical errors under emergency situations. We discusse the experience of the period since October 1993 to April 1994.

 Isbister J.P Adverse reactions to plasma and plasma components Anesth. Intensive Care 1993 21 Linares J Inmunohematología y banco de sangre Inmunohematología y banco de sangre 1986 Caracas Ed. Cromotip Mercatello A Lavillem M Leizoroviez A Side effects of therapeutic plasma exchange. A controled prospective study Press Med 1989 18 Schmidt P Leparc G Samia C Use of Rh positive blood in emergency situations Surg. Ginecol. Obstet 1988 167
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100004 Reacciones transfusionales en el Hospital Nacional de Niños, entre abril de 1992 y abril de 1993 Martínez Martina Fallas Ana Virginia Contreras Patricia Fonseca Jorge ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Laboratorio Clínico ,Hospital Calderón Guardia División Inmunología ,Hospital México Laboratorio de Inmunología San José Costa Rica 1997 1997 32 17 25

Se hizo un estudio postransfusional en pacientes del Hospital Nacional de Niños de Costa Rica, entre abril de 1992 y abril de 1993, con el fin de clasificar las reacciones transfusionales en hemolíticas y no hemolíticas. Encontramos 45 casos con reacción y de ellas 3 fueron hemolíticas de entre 14.023 transfusiones realizadas en ese año. Se discute la metodología usada, la necesidad de evitar todo tipo de errores tanto en el banco de sangre como en el lugar de la transfusión.

At the Hospital Nacional de Niños of Costa Rica, we have studied 14.023 hemocomponent transfusion in a twelve month (from April 1992 to April 1993), we intend to clasifity any transfusion reaction in hemolytic and not hemolytic. We studied 14.023 transfusion and we detected 45 transfusion reaction: We classified it according to sex, age, hemocomponent, amount, type and clinical signs, the follow up protocol allow us to put them as cases of anti paltelets, anti HLA cases, IgA deficiency or red blood cells related.

 Baranowski L Filtering out the confusion about leukocyte-poor blood components J. Intraven. Nurs 1991 14 Bel Comos J Rivera A Value of the Coombs test in ABO incompatibility Ann. Esp, Pediatr 1991 35 Blumberg N Triulzi D Transfusion-induced immunomodulation and its clinical consequences Transfusion Med. Rev 1990 4 Boncacossa I Alloimmunization as a problem for platelet transfusion Transfusion Med. Rev 1990 4 Bowman J The prevention of Rh immunization Transfusion Med. Rev 1988 2 Butler J Parker D Systemic release of neutrophil elastase and tumour necrosis factor aplha following ABO incompatible blood transfusion Brit. J. Haematol 1991 79 Chapman J Antibodies associated with non-hemolytic febrile transfusion reactions Transfus. Today 1991 11 DeMarce J Blood transfusions. More options: less fear Minn. Nurs. Accent. 1991 63 ^s2 Fernández M Arribas M La compatibilidad en la transfusión sanguínea Rev. Enferm 1991 14 Garratty G Predicting the clinical significance or red cell antibodies with in vitro cellular assays Transfus. Med. Rev 1990 4 Goodnough L Shuck J Risks, options, and informed consent for blood transfusion in elective surgery Amer. J. Surg 1990 159 Heinrichs W Dick W Transfusion of blood and blood products Gynakologe 1991 24 Hoffbrand A Lewis S Postgraduate Haematology Postgraduate Haematology 1989 3 Lane T Anderson K Leukocyte reduction in blood component therapy Ann. Intern. Med 1992 117 Linares J Inmunohematología y Transfusión: Principios y Procedimientos Inmunohematología y Transfusión: Principios y Procedimientos 1986 Cromotip. Ed Manual Merck Manual Merck 1989 8 Doyma Rawal B Dual reduction in the immunologic and infectious complications of transfusion by filtration/removal of leykocytes from donor blood soon after collection Transfus. Med. Rev. 1990 4 ^s1 Schiffer C Young V Detection of platelet antibodies using a Micro-Enzime-linked Immunossorbent Assay (ELISA) Blood 1983 61 Tse T Leukocyte reduction in blood component therapy Ann. Intern. Med 1992 117 Woodliff H Herrman R Hematología Clínica Hematología Clínica 1981 Manual Moderno
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100005 Prueba cruzada incompatible contra el sistema M N S S Contreras Patricia Esquivel María Elena Sancho Yalile Valle Luis Montero Jenny ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Banco de Sangre Laboratorio Clínico San José Costa Rica 1997 1997 32 27 29

Se presentan 6 casos de pacientes de 1 a 22 años de edad, atendidos entre 1985 y 1994, sensibilizados post transfusión: 4 por anti M y 2 por antiS, 4 con IgM, 2 de ellos tenían además componente IgG. A estos pacientes con historia de anemias, quemaduras o neoplasias y transfusiones previas se les solicitó sangre para cirugía; al realizar las pruebas cruzadas se encontró que 40 sangres fueron incompatibles. Se identificó la especificidad y se procedió a fenotipear sangres para este sistema y finalmente los pacientes se transfundieron sin problema.

We present six patients, 1-22 years old, with documental history of severe anemia, neoplasias, burns, and incompatible blood transfusions, between 1985 and 1994. Four of them had shown anti M, two anti S, four with IgM type, and two with IgG component also.

 Ballas S Digman C Harris M A clinically significant anti-N in a patient whose red cells were negative for N and U antigens Transfusion 1985 25 Bowen D Deve T Devenish A Delayed haemolytic transfusion reaction due to simultaneous appearance of anti Fya and anti Fy5 Vox Sang 1988 55 Heuft H Weisbach V Zeiber T Anti-M after transfusion as an indication of a genetic variant of the MN locus Infusion Ther. 1992 30 Le Pennec P Rouger P Klein M Study of anti Fya in five black Fy(a-b) patients Vox Sang 1987 52 Linares J Inmunohematología y Banco de Sangre Inmunohematología y Banco de Sangre 1986 Caracas Ed. Cromotip
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100006 Incompatibilidad sanguínea por anticuerpos Anti-Duffy (Fya) Esquivel María Elena Contreras Patricia ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Banco de Sangre Laboratorio Clínico San José Costa Rica 1997 1997 32 31 32

Se presenta el caso de una paciente con anemia (Hb-7,4 g/dl que requiere ser transfundida. Las pruebas cruzadas resultaron incompatibles. Se refiere el caso al Banco de Sangre del Hospital Nacional de Niños para realizar el estudio de anticuerpos donde se encontró que la paciente tenía un anti Duffy (Fya) por lo que se transfundió con sangre tipo Fya (-) sin tener problemas, ya que se encontraron 3 sangres compatibles de 20 que fueron probadas.

One female patient with anemia (Hb: 7,4 g/dl) requires transfusions. The cross test results were not compatibles, so they send the case to the National Children’s Hospital in order to carry out the antibodies studies. An anti Fya was found; so she was transfunded with blood Fya (-) without complications. Three compatible units were selected from 20 bloods studied.

 Bryant N An introduction to inmunohematology An introduction to inmunohematology 1994 W.B. Saunders Bowen D Delayed haemolytic transfusion reaction due to simultaneous appearance of anti Fya and Fyb Vox Sang 1988 55 Le-Pennec P Study of anti Fya in five black Fy(a-b) patients Vox Sang 1987 52 Linares J Inmunohematología y Banco de Sangre Inmunohematología y Banco de Sangre 1986 Caracas Ed.Cromotip Rudman S Texbook of blood banking and transfusion medicine Texbook of blood banking and transfusion medicine 1995 W.B. Saunders
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100007 Inhibidores de la proteasa del virus de inmunodeficiencia humana en niños Odio Karla ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Servicio de Infectología 1997 1997 32 33 38 Coffin J HIV population dynamics in vivo: Implications for genetic variation, pathogenesis and therapy Science 1995 267 Collier A Coombs R Schoenfeld D Treatment of human immunodeficiency virus infection with saquinavir, zidovudine, and zalcitabine N. Engl. J. Med 1996 334 Condra J Schleif W Blahy O In vitro emergence of HIV-1 variants resistant to multiple proteasa inhibitors Nature 1995 374 Danner S Carr A Leonard J A short-term study of the safety, pharmacokinetics, and efficacy of ritonavir, an inhibitor of HIV-1 protease N. Engl. J. Med 1995 333 Dean M Carrington M Winkler C Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene Science 1996 273 Feng Y Broder C Kennedy P HIV-1 entry cofactor: functional cDNA cloning of seven-transmembrane G protein- coupled receptor Science 1996 272 Gulick Conference on Retroviruses and Opportunistic Infections Conference on Retroviruses and Opportunistic Infections 1996 3 Washington Havlir D Richman D Viral dynamics of HIV: Implications for drug development and therapeutic strategies Ann. Intern. Med 1996 124 Ho D Neumann A Perelson A Rapid turnover of plasma virions and CD4 lymphocytes in HIV-1 infections Nature 1995 373 Johnson V Merrill D Chou T Human immunodeficiency virus type 1 (HIV-1) inhibitory interactions between protease inhibitor Ro-31-8959 and zidovudine, 2’, 3’ -dideoxycytidine, or recombinant interferon-alpha A against zidovudine-sensitive or- resistant HIV-1 in vitro J. Infect. Dis 1992 166 Markowitz M Saag M Powderly W A preliminary study of ritonavir, an inhibitor of HIV-1 protease, to treat HIV-1 infection N. Engl. J. Med 1995 333 Mellors J Rinaldo J Gupta P Prognosis of HIV-1 infection predicted by the quantity of virus in plasma Science 1996 272 Mueller B Smith S Sleasman J A phase I/II study of the protease inhibitor indinavir (MK. 0639) in children with HIV infection A phase I/II study of the protease inhibitor indinavir (MK. 0639) in children with HIV infection International Conference on AIDS 1996 Mueller B Zuckerman J Nelson J A phase I/II study of the protease inhibitor ritonavir (ABT-538) in children with HIV infection A phase I/II study of the protease inhibitor ritonavir (ABT-538) in children with HIV infection Conference onAIDS 1996 Noble S Faulds D Saquinavir: A review of its pharmacology and clinical potencial in the management of HIV infection Drugs 1996 52 Perelson A Neumann A Markowitz M HIV-1 dynamics in vivo: Clearance rate, infected cell life-span, and viral generation time Science 1996 271 Saag M Holodniy M Kuritzkes D HIV viral load markers in clinical practice Nature medicine 1996 2 Schapiro J Winters M Stewart F The effect of high-dose saquinavir on viral load and CD4+ T-cell counts in HIV-infected patients Ann. Intern. Med 1996 124 Stein D Fish D Bilello J A 24-week open-label phase I/II evaluation of the HIV protease inhibitor MK-639 (indinavir) AIDS 1996 10 Wei X Ghosh S Taylor M Viral dynamics in human immunodeficiency virus type 1 infection Nature 1995 373
S1017-854619970001 Revista Médica del Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Rev. méd. Hosp. Nac. Niños (Costa Rica) 1017-8546 Editorial Nacional de Salud y Seguridad Social S1017-85461997000100008 Revisión acerca de las causas genéticas que provocan inversión del sexo Sánchez María Adilia ,Hospital Nacional de Niños Dr. Carlos Sáenz Herrera Sección de Citogenética Laboratorio Clínico San José Costa Rica 1997 1997 32 39 42 Affara N Ferguson M Magenis R Mapping the testis determinants by an analysis of the Y specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes Nucleic Acids Res 1987 15 Brown T Lubahn D Wilson E Deletion of the steroid binding domain of the human androgen receptor gene in a family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome Proc. Natl. Acad. Sci. 1988 85 Brown C Goss S Lubahn D Androgen receptor locus on the human X chromosome: regional localization to Xp 11-12 and description of a DNA polymorphism Amer. J. Hum. Genet 1989 44 Burgoyne P Genetic homolgy and crossing over in the X and Y chromosomes of mammals Human Genet 1982 61 Fechner P Marcantonio S Jaswaney V The role of the sex determining region Y gene in the etiology of the 46, XX maleness J. Clin. Endocrinol. Metab. 1993 76 Hawkins J Taylor A Goodfellow P Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis Amer. J. Human Genet 1992 51 Jager R Anvret M Hall K A human XY female with a frame shift mutation in the candidate testis determining gene SRY Nature 1990 348 Migeon C Brown T Lanes R A clinical syndrome of mild androgen insensitivity J. Clin. Endocrinol. Metab 1984 59 Mueller J Schwartz M Skakkebaek N Analysis of the sex determining region of the Y chromosome (SRY) in sex reversed patients: point mutation in SRY causing sex reversion in a 46, XY female J. Clin. Endocrinol. Metab 1992 75 Page D Mosher R Simpson E The sex determining region of the human Y chromosome encodes a finger protein Cell 1987 51 Page D Brown L de la Capelle A Exchange of terminal portions of X and Y chromosomal short arms in human XX males Nature 1989 6129 Scherer G Schempp W Baccichetti C Duplication of an Xp segment that includes the ZFX locus causes sex inversion in man Human Genet 1989 81 Berkovitz G Brown T Migeon C Androgen receptors J. Clin. Endocrinol. Metab. 1983 12 Berkovitz G Fechner P Zacur H Clinical and pathologic spectrum of 46, XY gonadal dysgenesis: its relevance to the understanding of sex differentiation Medicine Baltimore 1991 70 Berta P Hawkins J Sinclair A Genetic evidence equating SRY and the testis determining factor Nature 1990 348 Hawkins J Taylor A Berta P Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal Human Genet 1992 88 Levilliers J Quack B Weissenbach H Exchange of terminal portions of X and Y chromosomal short armas in human XY females Proc. Natl. Acad. Sci 1989 86