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BACKGROUND: Autoimmune lymphoproliferative syndrome (ALPS) is a primary immunodeficiency characterized by chronic lymphoproliferation, autoimmune manifestations, expansion of double-negative T-cells, and susceptibility to malignancies. Most cases of ALPS are caused by germline or somatic FAS mutations. We report the case of an ALPS patient due to a novel homozygous Fasligand gene mutation (ALPS-FASLG). METHODS: ALPS biomarkers were measured and FASLG mutation was identified. Functional characterization was carried out based on activation-induced cell death (AICD) and cytotoxicity assays. RESULTS: This report describes the cases of a patient who presented a severe form of ALPS-FASLG, and his brother who had died due to complications related to ALPS. Moreover, in another family, we present the first case of lymphoma in a patient with ALPS-FASLG. Functional studies showed defective Fasligand-mediated apoptosis, cytotoxicity, and AICD in T-cell blasts. Otherwise, expression of the FASLG gene and corresponding protein was normal, but the shedding of the Fasligand was impaired in T-cells. Additionally, analyzing Epstein-Barr virus (EBV)-transformed B-cells, our results indicate impaired AICD in ALPS-FASLG patients. CONCLUSION: Patients with autosomal recessive inheritance of ALPS-FASLG have a severe phenotype and a partial defect in AICD in T- and B-cell lines. The Fasligand could play a key role in immune surveillance preventing malignancy.
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Síndrome Linfoproliferativa Autoimune/genética , Linfócitos B/virologia , Transformação Celular Viral , Citotoxicidade Imunológica , Proteína Ligante Fas/genética , Herpesvirus Humano 4/patogenicidade , Linfoma/genética , Mutação , Adulto , Apoptose , Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/tratamento farmacológico , Síndrome Linfoproliferativa Autoimune/imunologia , Linfócitos B/imunologia , Linfócitos B/patologia , Pré-Escolar , Consanguinidade , Análise Mutacional de DNA , Proteína Ligante Fas/imunologia , Feminino , Predisposição Genética para Doença , Células HEK293 , Homozigoto , Humanos , Lactente , Células Jurkat , Linfoma/imunologia , Linfoma/patologia , Masculino , Linhagem , Fenótipo , Linfócitos T/imunologia , Linfócitos T/patologia , TransfecçãoRESUMO
The AEP Immunization Calendar for 2024, with its immunization recommendations for pregnant women, children and adolescents residing in Spain, marks the 25th edition since the first one was introduced in 1995, being annual since 2003, as a vaccination calendar, and since 2023 as immunization schedule due to the inclusion of a monoclonal antibody for the prevention of RSV disease. Novelties for this year include the following: The rest of the recommendations from the previous calendar remain unchanged.
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Vacinação , Gravidez , Adolescente , Criança , Humanos , Feminino , Esquemas de Imunização , EspanhaRESUMO
The flu is a constant threat that can sometimes cause severe forms of disease. The highest incidence rates by age group occur in children under 15 years of age, especially in those under 5 years, in whom the rate of hospitalization is also similar to the population aged 65 years and older. In addition, children are the main transmitters of the infection. In Spain, 5 influenza vaccines are authorized for the paediatric age group: three inactivated tetravalent vaccines harvested from fertilised eggs, one tetravalent inactivated vaccine obtained from cell cultures and one attenuated tetravalent vaccine for intranasal administration, which will become trivalent in the 2024-2025 season by excluding the B Yamagata lineage as recommended by the WHO. The CAV-AEP recommends systematic vaccination in children aged 6-59 months, children and adolescents belonging to risk groups, people who can transmit the flu to groups at risk of complicated flu, and household contacts or close family of infants under 6 months. From 2 years of age, the intranasal attenuated vaccine is preferred due to its greater acceptability and thus contribution to greater vaccination coverage. The CAV-AEP also considers that vaccination against influenza of healthy children and adolescents aged 5-18 years is advisable, as it provides individual protection and promotes protection at the family and community levels. It is especially important to vaccinate all health care professionals against influenza as well as pregnant women at any time during pregnancy.
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Vacinas contra Influenza , Influenza Humana , Vacinação , Humanos , Vacinas contra Influenza/administração & dosagem , Influenza Humana/prevenção & controle , Criança , Adolescente , Pré-Escolar , Espanha/epidemiologia , Lactente , Vacinação/estatística & dados numéricos , Estações do Ano , FemininoRESUMO
INTRODUCTION: Immunization is the most effective strategy for the prevention of invasive meningococcal disease caused by Neisseria meningitidis serogroup B (MenB); however, parents need to weigh the risk-benefit and financial impact of immunizing their children against MenB in the absence of a national immunization program (NIP). This study aimed to explore societal preferences (of parents and pediatricians) regarding the attributes of a MenB vaccine in Spain. METHODS: A discrete choice experiment (DCE) based on cross-sectional surveys was carried out to determine preferences. A literature review and scientific committee determined the six attributes related to the MenB vaccine included in the DCE: vaccination age, cost, duration, percentage of protection, adverse events probability, and expert/authority recommendation. Data were analyzed using a mixed logit model. Relative importance (RI) of attributes was calculated and compared between parents and pediatricians. RESULTS: A total of 278 parents [55.8% female, mean age 40.4 (standard deviation, SD 7.3) years] and 200 pediatricians [73.0% female, mean age 45.8 (SD 12.9) years] answered the DCE. For parents, the highest RI was attributed to vaccine cost, expert/authority recommendation, and percentage of protection (26.4%, 26.1%, and 22.9%, respectively), while for pediatricians the highest RI was assigned to percentage of protection, expert/authority recommendation, and vaccination age (27.2%, 23.7%, and 22.6%, respectively). Significant differences between parents and pediatricians were found in the RI assigned to all attributes (p < 0.001), except for vaccine recommendation. CONCLUSION: In the decision regarding MenB vaccination, cost was a driver in parental decision-making but had a low RI for pediatricians and, conversely, vaccination age was highly valued by pediatricians but was the attribute with least importance for parents. Despite these differences, expert/authority recommendation and percentage of protection were essential criteria for both groups. These results provide relevant information about MenB vaccination, highlighting the importance of considering societal preferences for NIP inclusion.
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As it does every year, the CAV-AEP publishes the update of its recommendations for the use of vaccines in children, adolescents and pregnant women residing in Spain. The 2â¯+â¯1 schedule is maintained in infants (at 2, 4 and 11 months), including preterm infants, with the hexavalent vaccine (DTaP-IPV-Hib-HB) and the pneumococcal 13-valent conjugate vaccine. A booster dose with DTaP-IPV is needed at 6 years for those who received the 2â¯+â¯1 series with hexavalent vaccine as infants, in addition to 1 dose of dTap in adolescence. Routine vaccination of pregnant women with a dose of dTap is recommended in each pregnancy, preferably between weeks 27 and 32 of gestation, although can be given from 20 weeks if there is risk of preterm delivery. All infants should receive the rotavirus vaccine (2-3 doses) and the 4CMenB vaccine (2â¯+â¯1 series). All children aged 6-59 months should be vaccinated against influenza each year. The MenACWY vaccine should be given routinely at 12 months of age and in adolescence between ages 12 and 18 years. The recommendations for the MMR vaccine (12 months and 3-4 years) and varicella vaccine (15 months and 3-4 years) also remain unchanged, using the MMRV vaccine for the second dose. Recommendations for the use of SARS-CoV-2 vaccines in the paediatric age group will be updated periodically on the CAV-AEP website. The HPV vaccine is indicated in all adolescents, regardless of sex, at age 12 years. Novelties include the recommendation of routine administration of nirsevimab to neonates and infants aged less than 6 months for passive immunization against RSV, and the recommendations regarding the hexavalent vaccine are consolidated in a single section.
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COVID-19 , Infecções Meningocócicas , Vacinas Meningocócicas , Vacinas contra Rotavirus , Gravidez , Lactente , Adolescente , Criança , Humanos , Recém-Nascido , Feminino , Esquemas de Imunização , Vacinas contra COVID-19 , Recém-Nascido Prematuro , SARS-CoV-2 , Vacinas Bacterianas , Vacinas CombinadasRESUMO
OBJECTIVE: The objective of this study was to evaluate the use of combined inhaled nitrous oxide (NO), hematoma block (HB), and transmucosal fentanyl (TMF) as sedoanalgesia in the reduction of radioulnar fractures in children in a pediatric emergency department (PED). METHODS: A retrospective, analytical observational study examining the cases of radioulnar fracture reduction in PED from 2007 to 2009 in children from 4 to 15 years old. The cases were divided into 2 groups: those in which only NO + HB was used and those in which TMF was combined with NO + HB. The pain perceived by the child, the doctor, and the nurse was studied during the procedure with 0- to 10-point scales (10 being severe pain). Satisfaction of the medical professionals, duration of the procedure, and the adverse effects that appeared were also studied. RESULTS: Eighty-one children were included. Sixty-four children (79%) received NO + TMF + HB, and 17 children (21%) received NO + HB only. The pain perceived by the child during the procedure in the group receiving NO + TMF + HB was 2.5 (95% confidence interval [CI], 1.8-3.1) compared with 3.9 (95% CI, 2.3-5.5) in the NO + HB group (P = 0.035), the pain perceived by the doctor was 2.6 (95% CI, 2-3.2) compared with 4 (95% CI, 1.6-4), and by the nurse was 2.7 (95% CI, 2-3.3) compared with 3.9 (95% CI, 2.3-5.5), respectively. Adverse events appeared in 15.3% of the NO + TMF + HB group and in 40% of the NO + HB group. CONCLUSIONS: The association of NO + TMF + HB in the reduction of radioulnar fractures in PED improves pain control compared with the NO + HB combination. New studies are required to confirm the benefit and safety of this drug combination.
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Analgésicos Opioides/uso terapêutico , Fentanila/administração & dosagem , Fraturas Ósseas/terapia , Óxido Nitroso , Manejo da Dor/métodos , Adolescente , Analgésicos Opioides/administração & dosagem , Criança , Pré-Escolar , Terapia Combinada , Serviço Hospitalar de Emergência , Feminino , Humanos , Masculino , Óxido Nitroso/administração & dosagem , Medição da Dor , Pediatria , Fraturas do Rádio/terapia , Estudos Retrospectivos , Espanha , Fraturas da Ulna/terapiaRESUMO
After reviewing the best available scientific information, CAV-AEP publishes their new recommendations to protect pregnant women, children and adolescents living in Spain through vaccination. The same recommendations as the previous year regarding hexavalent vaccines, pneumococcal conjugate vaccine of 13 serotypes, booster with tetanus, diphtheria, pertussis and inactivated poliomyelitis (Tdpa-IPV) at 6 years and with tetanus, diphtheria and pertussis (Tdpa) at 12-14 years and pregnant women from week 27 (from week 20 if there is a high risk of preterm delivery). Also with rotavirus, tetraantigenic meningococcal B (2+1), meningococcal quadrivalent (MenACWY), MMR, varicella and human papillomavirus (HPV) vaccines, for both genders. As novelties this year the CAV-AEP recommends: Influenza vaccination from 6 to 59 months of age whenever feasible and does not harm the vaccination program aimed at people at higher risk. According to official national recommendations, the CAV-AEP recommends the systematic use of COVID mRNA vaccines since 5 years old.
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COVID-19 , Vacinas de mRNA , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Esquemas de Imunização , Recém-Nascido , Masculino , Gravidez , SARS-CoV-2 , VacinaçãoRESUMO
Rotavirus (RV) is the most common cause of severe gastroenteritis (GE) in infants and young children worldwide and is associated with a significant clinical and economic burden. The objective of this study was to analyze the characteristics, healthcare resource utilization and the direct medical costs related to RVGE hospitalizations in Spain. An observational, multicenter, cross-sectional study was conducted from June 2013 to May 2018 at the pediatric departments of 12 hospitals from different Spanish regions. Children under 5 years of age admitted to the hospital with a confirmed diagnosis of RVGE were selected. Data on clinical characteristics, healthcare resource use and costs were collected from patient records and hospital databases. Most children hospitalized for RVGE did not have any previous medical condition or chronic disease. Forty-seven percent had previously visited the Emergency Room (ER), 27% had visited a primary care pediatrician, and 15% had received pharmacological treatment prior to hospital admission due to an RVGE episode. The average length of a hospital stay for RVGE was 5.6 days, and the mean medical costs of RVGE hospitalizations per episode ranged from 3,940 to 4,100. The highest direct medical cost was due to the hospital stay. This study showed a high burden of health resource utilization and costs related to the management of cases of RVGE requiring hospitalization. RV vaccination with high coverage rates should be considered to minimize the clinical and economic impacts of this disease on the health-care system.
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Infecções por Rotavirus , Vacinas contra Rotavirus , Rotavirus , Criança , Pré-Escolar , Estudos Transversais , Hospitalização , Humanos , Lactente , Aceitação pelo Paciente de Cuidados de Saúde , Infecções por Rotavirus/diagnóstico , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/terapia , Espanha/epidemiologiaAssuntos
Ligante de CD40/genética , Síndrome de Imunodeficiência com Hiper-IgM/genética , Leishmaniose Visceral/etiologia , Mutação , Linfócitos T/imunologia , Pré-Escolar , Humanos , Síndrome de Imunodeficiência com Hiper-IgM/complicações , Síndrome de Imunodeficiência com Hiper-IgM/imunologia , Imunoglobulina M , Leishmaniose Visceral/diagnóstico , MasculinoRESUMO
BACKGROUND: Human CD8 immunodeficiency is characterized by undetectable CD8(+) lymphocytes and an increased population of CD4(-)CD8(-) (double negative) T lymphocytes. DESIGN AND METHODS: We hypothesized that the double negative subset corresponds to the cellular population that should express CD8 and is committed to the cytotoxic T lymphocyte lineage. To assess this, we determined the phenotype and function of peripheral blood mononuclear cells and/or magnetically isolated double negative T lymphocytes from two CD8-deficient patients. To analyze the expression and co-localization with different organelles, 293T cells were transfected with plasmids bearing wild-type or mutated CD8α. RESULTS: CD8α mutated protein was retained in the cytoplasm of transfected cells. The percentages of double negative cells in patients were lower than the percentages of CD8(+) T cells in healthy controls. Double negative cells mostly had an effector or effector memory phenotype whereas naïve T cells were under-represented. A low concentration of T-cell receptor excision circles together with a skewed T-cell receptor-V repertoire were observed in the double negative population. These data suggest that, in the absence of CD8 co-receptor, the thymic positive selection functions suboptimally and a limited number of mature T-cell clones would emerge from the thymus. In vitro, the double negative cells showed a mild defect in cytotoxic function and decreased proliferative capacity. CONCLUSIONS: It is possible that the double negative cells are major histocompatibility complex class-I restricted T cells with cytolytic function. These results show for the first time in humans that the presence of the CD8 co-receptor is dispensable for cytotoxic ability, but that it affects the generation of thymic precursors committed to the cytotoxic T lymphocyte lineage and the proliferation of mature cytotoxic T cells.
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Antígenos CD8/metabolismo , Fenótipo , Subpopulações de Linfócitos T/imunologia , Adolescente , Adulto , Antígenos CD8/genética , Linfócitos T CD8-Positivos/imunologia , Citoplasma/metabolismo , Citotoxicidade Imunológica , Feminino , Citometria de Fluxo , Regulação da Expressão Gênica/imunologia , Humanos , Imunofenotipagem , Mutação/genética , Receptores de Antígenos de Linfócitos T/imunologia , Receptores de Antígenos de Linfócitos T/metabolismo , Subpopulações de Linfócitos T/metabolismoRESUMO
These guidelines are an update of the recommendations of the Spanish Society of Infectious Diseases and Clinical Microbiology (SEIMC) that were issued in 2004 (Enferm Infecc Microbiol Clin. 2004, 22:32-9) on the treatment of Invasive Candidiasis and infections produced by other yeasts. This 2010 update includes a comprehensive review of the new drugs that have appeared in recent years, as well as the levels of evidence for recommending them. These guidelines have been developed following the rules of the SEIMC by a working group composed of specialists in infectious diseases, clinical microbiology, critical care medicine, paediatrics and oncology-haematology. It provides a series of general recommendations regarding the management of invasive candidiasis and other yeast infections, as well as specific guidelines for prophylaxis and treatment, which have been divided into four sections: oncology-haematology, solid organ transplantation recipients, critical patients, and paediatric patients.
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Candidíase Invasiva/tratamento farmacológico , Adulto , Candidíase Invasiva/complicações , Criança , Estado Terminal , Neoplasias Hematológicas/complicações , Humanos , Micoses/complicações , Micoses/tratamento farmacológico , Transplante de Órgãos , Complicações Pós-Operatórias/tratamento farmacológicoRESUMO
Primary immune regulatory disorders (PIRD) are associated with autoimmunity, autoinflammation and/or dysregulation of lymphocyte homeostasis. Autoimmune lymphoproliferative syndrome (ALPS) is a PIRD due to an apoptotic defect in Fas-FasL pathway and characterized by benign and chronic lymphoproliferation, autoimmunity and increased risk of lymphoma. Clinical manifestations and typical laboratory biomarkers of ALPS have also been found in patients with a gene defect out of the Fas-FasL pathway (ALPS-like disorders). Following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA), we identified more than 600 patients suffering from 24 distinct genetic defects described in the literature with an autoimmune lymphoproliferative phenotype (ALPS-like syndromes) corresponding to phenocopies of primary immunodeficiency (PID) (NRAS, KRAS), susceptibility to EBV (MAGT1, PRKCD, XIAP, SH2D1A, RASGRP1, TNFRSF9), antibody deficiency (PIK3CD gain of function (GOF), PIK3R1 loss of function (LOF), CARD11 GOF), regulatory T-cells defects (CTLA4, LRBA, STAT3 GOF, IL2RA, IL2RB, DEF6), combined immunodeficiencies (ITK, STK4), defects in intrinsic and innate immunity and predisposition to infection (STAT1 GOF, IL12RB1) and autoimmunity/autoinflammation (ADA2, TNFAIP3,TPP2, TET2). CTLA4 and LRBA patients correspond around to 50% of total ALPS-like cases. However, only 100% of CTLA4, PRKCD, TET2 and NRAS/KRAS reported patients had an ALPS-like presentation, while the autoimmunity and lymphoproliferation combination resulted rare in other genetic defects. Recurrent infections, skin lesions, enteropathy and malignancy are the most common clinical manifestations. Some approaches available for the immunological study and identification of ALPS-like patients through flow cytometry and ALPS biomarkers are provided in this work. Protein expression assays for NKG2D, XIAP, SAP, CTLA4 and LRBA deficiencies and functional studies of AKT, STAT1 and STAT3 phosphorylation, are showed as useful tests. Patients suspected to suffer from one of these disorders require rapid and correct diagnosis allowing initiation of tailored specific therapeutic strategies and monitoring thereby improving the prognosis and their quality of life.
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Síndrome Linfoproliferativa Autoimune/diagnóstico , Síndrome Linfoproliferativa Autoimune/imunologia , Síndrome Linfoproliferativa Autoimune/terapia , Doenças da Imunodeficiência Primária/diagnóstico , Doenças da Imunodeficiência Primária/imunologia , Doenças da Imunodeficiência Primária/terapia , Diagnóstico Precoce , HumanosRESUMO
The CAV-AEP annually publishes the immunisation schedule considered optimal for all children and adolescent resident in Spain, taking into account the available evidence. The 2+1 schedule is recommended (2, 4, and 11 months) with hexavalent vaccines (DTPa-VPI-Hib-HB) and with 13-valent pneumococcal conjugate.A 6-year booster is recommended, preferably with DTPa (if available), with a dose of polio for those who received 2+1 schemes, as well as vaccination with Tdpa in adolescents and in each pregnancy, preferably between 27 and 32 weeks. Rotavirus vaccine should be systematic for all infants. Meningococcal B vaccine, with a 2+1 schedule, should be included in routine calendar. In addition to the inclusion of the conjugated tetravalent meningococcal vaccine (MenACWY) at 12 years of age with catch up to 18 years, inclusive, the CAV recommends this vaccine to be also included at 12 months of age, replacing MenC. Likewise, it is recommended in those over 6 weeks of age with risk factors or who travel to countries with a high incidence of these serogroups. Two-dose schedules for triple viral (12 months and 3-4 years) and varicella (15 months and 3-4 years) will be used. The second dose could be applied as a tetraviral vaccine. Universal systematic vaccination against HPV is recommended, regardless of gender, preferably at 12 years, and greater effort should be made to improve coverage. The 9 genotype extends coverage for both genders.
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Esquemas de Imunização , Vacinação , Adolescente , Criança , Feminino , Humanos , Lactente , Masculino , Espanha , Vacinas CombinadasAssuntos
Linfócitos T CD8-Positivos/patologia , Fatores de Troca do Nucleotídeo Guanina/imunologia , Síndrome de Job/patologia , Células Matadoras Naturais/patologia , Linfócitos T CD8-Positivos/imunologia , Citotoxicidade Imunológica , Expressão Gênica , Fatores de Troca do Nucleotídeo Guanina/deficiência , Fatores de Troca do Nucleotídeo Guanina/genética , Heterozigoto , Humanos , Imunoglobulina E/genética , Imunoglobulina E/imunologia , Síndrome de Job/genética , Síndrome de Job/imunologia , Células Matadoras Naturais/imunologia , Masculino , Fenótipo , Adulto JovemRESUMO
The CAV-AEP annually publishes the immunisation schedule considered optimal for all children resident in Spain, taking into account the available evidence. The 2+1 schedule is recommended (2, 4, and 11 months) with hexavalent vaccines (DTPa-VPI-Hib-HB) and with 13-valent pneumococcal conjugate. A 6-year booster is recommended, preferably with DTPa (if available), with a dose of polio for those who received 2+1 schemes, as well as vaccination with Tdpa in adolescents and in each pregnancy, preferably between 27 and 32 weeks. Rotavirus vaccine should be systematic for all infants. Meningococcal B vaccine, with a 2+1 schedule, should be included in routine calendar. In addition to the inclusion of the conjugated tetravalent meningococcal vaccine (MenACWY) at 12 years of age with catch up to 18 years, inclusive, the CAV recommends this vaccine to be also included at 12 months of age, replacing MenC. Likewise, it is recommended in those over 6 weeks of age with risk factors or who travel to countries with a high incidence of these serogroups. Two-dose schedules for MMR (12 months and 3-4 years) and varicella (15 months and 3-4 years) will be used. The second dose could be applied as a tetraviral vaccine. Universal systematic vaccination against HPV is recommended, both for girls and boys, preferably at 12 years, and greater effort should be made to improve coverage. The 9 genotype extends coverage for both genders.
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Vacinas Bacterianas/administração & dosagem , Esquemas de Imunização , Pediatria , Sociedades Médicas , Vacinas Virais/administração & dosagem , Adolescente , Criança , Feminino , Humanos , Lactente , Masculino , EspanhaRESUMO
BACKGROUND: Cytomegalovirus (CMV) is the leading cause of congenital infection worldwide. Up to 15%-20% of infected newborns will develop long-term sequelae such as hearing loss and neurologic abnormalities. The aim of this study was to investigate the prevalence of congenital CMV infection (cCMV) and associated clinical abnormalities in Spain. METHODS: A prospective screening for cCMV by viral load in saliva was performed. Saliva samples were obtained within the first 72 hours of life in a maternity ward in Madrid (Spain), during a 1-year period. All positive screening tests were confirmed with viral load in urine. Clinical, laboratory, auditory, visual and cerebral imaging assessments were performed in all children with cCMV. RESULTS: Of the 4097 neonates born during the study period, 3190 (78%) were included. CMV viral load in saliva was detectable in 24/3190 (0.75%) children, and congenital infection was confirmed in 15/3190 (0.47%, CI 95%: 0.29%-0.77%). Positive predictive value was 62.5% (CI 95%: 46.5%-76.1%). Two infants presented symptoms at birth. Eight (53.3%) children showed abnormalities in magnetic resonance imaging; most of them isolated white matter abnormalities. Newborns with abnormalities in magnetic resonance imaging showed higher viral loads in blood and saliva (P = 0.04). CONCLUSIONS: One in 200 neonates born in our hospital presented a cCMV infection. CMV viral load in saliva has been shown to be a simple and highly accepted screening method but should be confirmed by CMV detection in urine. In spite of the fact that half of infected children had abnormalities in cerebral imaging, diagnosis during the neonatal period would have been impossible without a screening program in most cases.
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Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/epidemiologia , Triagem Neonatal , Infecções por Citomegalovirus/diagnóstico por imagem , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Prevalência , Estudos Prospectivos , Saliva/virologia , Espanha/epidemiologia , Urina/virologia , Carga ViralRESUMO
Bilateral tuberculous mastoiditis (TOM) in an immunocompetent child is a very uncommon form of tuberculous infection presentation. This report shows the CT and MR imaging of bilateral tuberculous otomastoiditis consisting of aggressive signs of middle ear and mastoid involvement with bony destruction and periauricular collections with no signs of brain involvement. Differential diagnosis at pediatric age of destructive lesions such as mainly aggressive forms of histiocytosis is underscored. This form of bilateral TOM at this early age has not been described from a radiological perspective.
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Imageamento por Ressonância Magnética/métodos , Mastoidite/complicações , Mastoidite/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Tuberculose/complicações , Tuberculose/diagnóstico , Pré-Escolar , Humanos , MasculinoRESUMO
We describe the second case of CD8 immunodeficiency. It confirms the pathogenic effect of p.Gly111Ser, leading to complete deficit of CD8+ lymphocytes, although the clinical manifestations may vary in severity. Similarly to the first case reported, our patient is also from Spanish Gypsy origin and homozygous for the p.Gly111Ser mutation in CD8alpha chain. The patient has suffered repeated respiratory infections from childhood but with conservation of her pulmonary parenchyma, on the contrary to the first patient, who died because of his respiratory injury. We developed an AluI-PCR-RFLP assay to screen a total of 1127 unrelated control individuals: 734 subjects of Gypsy ancestry from different sub-isolates and geographic locations in Europe, and 393 of Spanish (non-Gypsy) ethnicity. The results indicate that p.Gly111Ser is confined to the Spanish Gypsy population, where it occurs at a carrier rate of 0.4%. Analysis of microsatellite markers flanking the CD8A mutated gene revealed a shared polymorphic haplotype suggesting a common founder for p.Gly111Ser mutation that causes CD8 deficiency in the Spanish Gypsy population. CD8 immunodeficiency should be given diagnostic consideration in Spanish Gypsies with recurrent infections. Our findings may also have implications for these patients in terms of specific recommendations in vaccination and healthy habits and for genetic counseling of affected families.