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1.
Access Microbiol ; 1(6): e000020, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32974530

RESUMO

INTRODUCTION: A case of pneumococcal mastitis in a breast-feeding mother 6 months postpartum is described. Mastitis is usually caused by Staphylococcus aureus . A review of the literature from 1950 to March 2018 revealed only four other cases in which the causative organism was Streptococcus pneumoniae . CASE PRESENTATION: The nursing mother presented with high fever and the four cardinal signs of inflammation of the left breast: calor, dolor, rubor, tumour. In milk culture Streptococcus pneumoniae was isolated in numbers exceeding 105 c.f.u. ml-1 . The strain was of polysaccharide serotype 11 not included in Prevnar-13. Susceptibility testing showed full sensitivity to ß-lactam antibiotics as well as to macrolides, lincosamides, vancomycin and tetracycline. CONCLUSION: Streptococcus pneumoniae should be considered as a possible causative agent of puerperal mastitis.

2.
J Clin Microbiol ; 53(7): 2015-21, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25878351

RESUMO

Group A streptococcus (GAS) is an important cause of morbidity and mortality worldwide. Surveillance of emm types has important implications, as it can provide baseline information for possible implementation of vaccination. A total of 1,349 GAS pediatric isolates were collected during a 7-year period (2007 to 2013); emm typing was completed for 1,282 pharyngeal (84%) or nonpharyngeal (16%) isolates, and emm clusters and temporal changes were analyzed. Thirty-five different emm types, including 14 subtypes, were identified. The most prevalent emm types identified were 1 (16.7%), 12 (13.6%), 77 (10.9%), 4 (10.8%), 28 (10.4%), 6 (6.8%), 3 (6.6%), and 89 (6.6%), accounting for 82.3% of total isolates. Rheumatogenic emm types comprised 16.3% of total isolates. The emm types 12, 4, and 77 were more prevalent among pharyngeal isolates, and the emm types 1, 89, 6, 75, and 11 were more prevalent among nonpharyngeal isolates. The emm types identified belonged to 13 emm clusters, and the 8 most prevalent clusters comprised 97% of all isolates. There were statistically significant decreases in the prevalence of emm types 12, 4, 5, and 61 and increases in the prevalence of emm types 89, 75, and 11, compared with the period 2001 to 2006. The proposed 30-valent GAS vaccine, which is currently in preclinical studies, encompasses 97.2% of the emm types detected in our study and 97.4% of the erythromycin-resistant strains. In addition, it includes 93.3% of the emm types involved in bacteremia. A much greater diversity of GAS emm types was identified in our area than described previously. Seasonal fluctuations and the introduction of new emm types were observed. Continuous surveillance of emm types is needed in order to evaluate the possible benefits of an M protein-based GAS vaccine.


Assuntos
Antígenos de Bactérias/genética , Proteínas da Membrana Bacteriana Externa/genética , Proteínas de Transporte/genética , Tipagem Molecular , Infecções Estreptocócicas/microbiologia , Streptococcus pyogenes/classificação , Streptococcus pyogenes/genética , Criança , Pré-Escolar , Análise por Conglomerados , Feminino , Genótipo , Humanos , Masculino , Epidemiologia Molecular , Estudos Prospectivos , Streptococcus pyogenes/isolamento & purificação
4.
Epidemiol Infect ; 139(6): 895-909, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20707941

RESUMO

EuroRotaNet, a laboratory network, was established in order to determine the diversity of co-circulating rotavirus strains in Europe over three or more rotavirus seasons from 2006/2007 and currently includes 16 countries. This report highlights the tremendous diversity of rotavirus strains co-circulating in the European population during three years of surveillance since 2006/2007 and points to the possible origins of these strains including genetic reassortment and interspecies transmission. Furthermore, the ability of the network to identify strains circulating with an incidence of ≥1% allowed the identification of possible emerging strains such as G8 and G12 since the beginning of the study; analysis of recent data indicates their increased incidence. The introduction of universal rotavirus vaccination in at least two of the participating countries, and partial vaccine coverage in some others may provide data on diversity driven by vaccine introduction and possible strain replacement in Europe.


Assuntos
Vigilância da População , Infecções por Rotavirus/virologia , Rotavirus/genética , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Europa (Continente)/epidemiologia , Feminino , Genótipo , Humanos , Lactente , Cooperação Internacional , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular , Infecções por Rotavirus/epidemiologia , Infecções por Rotavirus/prevenção & controle , Vacinas contra Rotavirus/uso terapêutico , Estações do Ano , Fatores Sexuais , Adulto Jovem
5.
J Clin Pharm Ther ; 35(1): 93-7, 2010 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20175817

RESUMO

BACKGROUND AND OBJECTIVE: Azathioprine (AZA) and 6-mercaptopurine (6MP) are used in the treatment of paediatric inflammatory bowel disease (IBD). Genetic variations in thiopurine S-methyltranfarase (TPMT) gene have been correlated with enzyme activity and with the occurrence of adverse events to AZA and 6MP. The aim of the present study was to investigate the frequency of the functional TPMT polymorphisms and their association with the occurrence of adverse events during azathioprine therapy in a paediatric IBD cohort. METHODS: Ninety-seven thiopurine-treated paediatric IBD patients (41.24% boys and 58.76% girls) with a mean age 11.25 years (range 3-16), were assessed for TPMT polymorphisms and adverse events. RESULTS: Of the 97 patients enrolled in the study, 18 (18.56%) were heterozygous mutated; two (2.06%) were homozygous for a mutated TPMT gene. Ten patients (10.31%) developed adverse effects, and four of them (40%) had one of the variant alleles. CONCLUSIONS: In this small cohort of subjects, no association was found between TPMT polymorphisms and the occurrence of thiopurines-related adverse events.


Assuntos
Azatioprina/efeitos adversos , Estudos de Associação Genética , Imunossupressores/efeitos adversos , Doenças Inflamatórias Intestinais/tratamento farmacológico , Mercaptopurina/efeitos adversos , Metiltransferases/genética , Polimorfismo Genético , Adolescente , Alelos , Azatioprina/uso terapêutico , Criança , Pré-Escolar , Feminino , Grécia , Heterozigoto , Homozigoto , Humanos , Imunossupressores/uso terapêutico , Doenças Inflamatórias Intestinais/sangue , Masculino , Mercaptopurina/uso terapêutico , Polimorfismo de Fragmento de Restrição
6.
J Hum Nutr Diet ; 23(2): 176-82, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20163513

RESUMO

BACKGROUND: Coeliac disease (CD) is common and requires a permanent strict gluten-free diet (GFD). However, data concerning how the situation is experienced by children are limited. The present study aimed to investigate the compliance with a GFD and the impact of CD and GFD on the lifestyle of patients and their families, together with proposed recommendations for improvement of quality of life. METHODS: Children with biopsy confirmed CD were recruited consecutively from the outpatient gastroenterology clinic. Participants were evaluated by a special questionnaire for compliance with the GFD, patients' knowledge about CD, and the well-being and lifestyle of children and their families. Comparisons between discrete variables were performed by a chi-square test. RESULTS: Seventy-three children of median age 9.4 (interquartile range = 5-14.5) years were evaluated. Compliance to diet was reported by 58%. Reasons for noncompliance were: poor palatability (32%), dining outside home (17%), poor availability of products (11%), and asymptomatic disease diagnosed by screening (11%). The acceptance of the GFD was reported as good in 65%, whereas avoidance of travelling and restaurants was stated by 17% and 46% of families, respectively. Most families experienced difficulties detecting gluten from the food label. Proposed factors for improvement of quality of life were: better labelling of gluten-containing ingredients (76%) and more gluten-free (GF) foods in supermarkets (58%) and restaurants (42%). CONCLUSIONS: Children with CD have low compliance with the GFD. Better education about the disease, the availability of GF products, and appropriate food labelling could improve compliance and quality of life.


Assuntos
Doença Celíaca/dietoterapia , Dieta Livre de Glúten , Comportamentos Relacionados com a Saúde , Estilo de Vida , Motivação , Aceitação pelo Paciente de Cuidados de Saúde , Cooperação do Paciente/estatística & dados numéricos , Adolescente , Doença Celíaca/psicologia , Distribuição de Qui-Quadrado , Criança , Família , Comportamento Alimentar , Feminino , Rotulagem de Alimentos , Abastecimento de Alimentos , Glutens , Humanos , Masculino , Cooperação do Paciente/psicologia , Qualidade de Vida , Restaurantes , Inquéritos e Questionários , Percepção Gustatória , Viagem
7.
Pediatr Surg Int ; 25(5): 451-4, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19396450

RESUMO

The case of a 9-year-old girl with a Mycobacterium tuberculosis inflammatory myofibroblastic tumor (IMT) of the left lobe of the liver is reported. The tumor was surgically excised and had histological features diagnostic of IMT, a positive Ziehl-Nielsen staining for acid-fast bacilli and a positive polymerase chain reaction for Mycobacterium tuberculosis. Surgical excision of the tumor followed by anti-tuberculosis treatment for 9 months resulted in full recovery. The patient had no apparent immune disorder, and there was no evidence of extrahepatic tuberculosis. These findings make this case exceptional because IMTs, due mostly to atypical mycobacteria, have been described only in immunocompromised patients.


Assuntos
Mycobacterium tuberculosis/isolamento & purificação , Tuberculose Hepática/microbiologia , Criança , Feminino , Hepatectomia , Humanos , Imunocompetência , Tuberculose Hepática/diagnóstico , Tuberculose Hepática/imunologia , Tuberculose Hepática/cirurgia
8.
Cancer Causes Control ; 20(5): 795-802, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19169895

RESUMO

OBJECTIVES: Delayed exposure to common infections during childhood, have been implied to cause strong immunological response to a single infectious agent that eventually triggers leukemogenesis. The aim of the present study was to investigate whether decreased exposure to infections, as reflected in a more seronegative spectrum to several common infectious agents, is associated with increased risk for the development of childhood lymphomas. METHODS: All 125 children (up to 14 years old), with Hodgkin (HL, n = 52) and non-Hodgkin lymphomas (NHL, n = 73) diagnosed through the national network of childhood Hematology-Oncology units during an 8-year period were enrolled in the study along with 125 age- and gender-matched controls. Past exposure to nine common infections [respiratory syncytial virus (RSV), influenza A and B, parainfluenza type 1, adenovirus, Epstein-Barr virus (EBV), cytomegalovirus (CMV), human herpes virus 6 (HHV6), Bartonella henselae] was assessed using serological markers. RESULTS: After controlling for possible confounding factors, the overall seronegativity status upon diagnosis was statistically significantly associated with NHL [odds ratio; 95% CI: 1.45 (1.10-1.93), p = 0.01] and less so with HL risk [odds ratio; 95% CI: 1.30 (0.83-2.05), p = 0.25]. A statistically significant association of seronegativity with the development of NHL was evident for RSV [odds ratio; 95% CI: 7.27 (1.59-33.28), p = 0.01], EBV [odds ratio; 95% CI: 6.73 (1.45-31.20), p = 0.01] and suggestive association for influenza B [odds ratio; 95% CI: 2.60 (0.90-7.55), p = 0.08] and influenza A [odds ratio; 95% CI: 2.35 (0.81-6.80), p = 0.11]. In contrast, there was no evidence for association of HL with negative serology for any of the infectious agents tested. CONCLUSIONS: The risk of lymphomas, especially NHL, might be higher when, due to lower exposure to several infectious agents, the relatively unmodulated immune system of a child is challenged by environmental stimuli that can trigger development of lymphomas. The results, however, need further confirmation, through more pertinent methodological designs.


Assuntos
Infecções/complicações , Linfoma/epidemiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Humanos , Linfoma/etiologia , Masculino , Razão de Chances
9.
Int J Antimicrob Agents ; 30(1): 87-92, 2007 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-17540542

RESUMO

This nationwide study assessed the antimicrobial susceptibility and seroprevalence of Streptococcus pneumoniae in paediatric carriage isolates and in clinical isolates from adult pneumococcal disease in Greece during the years 2004-2006. Among 780 isolates recovered from the nasopharynx of children <6 years old attending day-care centres, non-susceptibility rates to penicillin, cefuroxime, ceftriaxone, erythromycin, tetracycline and trimethoprim/sulfamethoxazole were 34.7%, 25.1%, 1.0%, 33.5%, 26.4% and 44.2%, respectively. Among 89 adult clinical isolates, the respective rates were 48.3%, 46.1%, 5.6%, 48.3%, 32.6% and 40.4%. High-level resistance to penicillin, cefuroxime and ceftriaxone was recorded for 14.4%, 23.3% and 0.1% of paediatric carriage isolates, whereas for clinical adult isolates the respective rates were 25.8%, 38.2% and 2.2%. No resistance to levofloxacin and moxifloxacin was recorded, although 3.5% of paediatric carriage isolates and 23.2% of adult clinical isolates had minimum inhibitory concentrations of ciprofloxacin >2mg/L. Serotypes 19F, 14, 23F and 6B were the most prevalent among carriage and clinical isolates. The 7-valent pneumococcal conjugate vaccine was estimated to provide coverage against 71.7% of paediatric carriage isolates and 51.3% of adult clinical isolates. Resistance rates among clinical isolates from adult sources were higher than those recorded among paediatric carriage S. pneumoniae isolates and displayed an increasingly resistant profile compared with previous reports from our country, warranting continuous vigilance.


Assuntos
Farmacorresistência Bacteriana , Infecções Pneumocócicas/microbiologia , Streptococcus pneumoniae/classificação , Streptococcus pneumoniae/efeitos dos fármacos , Adolescente , Adulto , Idoso , Antibacterianos/farmacologia , Portador Sadio/microbiologia , Criança , Pré-Escolar , Feminino , Grécia/epidemiologia , Vacina Pneumocócica Conjugada Heptavalente , Humanos , Lactente , Masculino , Vacinas Meningocócicas/imunologia , Testes de Sensibilidade Microbiana , Pessoa de Meia-Idade , Nasofaringe/microbiologia , Infecções Pneumocócicas/epidemiologia , Vacinas Pneumocócicas/imunologia , Prevalência , Sorotipagem , Streptococcus pneumoniae/isolamento & purificação
10.
J Chemother ; 18(5): 480-4, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17127223

RESUMO

The aims of the present study were to evaluate the frequency of macrolide-resistant staphylococci in Cyprus and to examine the phenotypic and genotypic characteristics of these isolates. Antimicrobial susceptibility testing was performed by broth microdilution method and the macrolide resistance determinants were detected by PCR. The relatedness among the isolates was examined by pulsed-field gel electrophoresis. Ninety-six (67.61%) of the 142 Staphylococcus aureus and 19 (59.4%) of the 32 coagulase-negative staphylococci were resistant to erythromycin. Among the 115 erythromycin-resistant staphylococci, 70 expressed the MLSB-inducible phenotype, 38 the MLSB-constitutive, and 7 the MS. The predominant genes associated with macrolide resistance were the ermA for S. aureus and the ermC for coagulase-negative staphylococci, detected in 90.62% and 47.37% of the isolates respectively. Dissemination of one clone carrying the ermA gene accounted for macrolide resistance in the majority of S. aureus isolates.


Assuntos
Farmacorresistência Bacteriana Múltipla/genética , Macrolídeos/farmacologia , Staphylococcus/genética , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , Técnicas de Tipagem Bacteriana , Clindamicina/farmacologia , Coagulase/genética , Chipre , DNA Bacteriano/análise , Frequência do Gene , Genótipo , Humanos , Metiltransferases/genética , Fenótipo , Staphylococcus/efeitos dos fármacos , Staphylococcus aureus/genética , Virginiamicina/análogos & derivados , Virginiamicina/farmacologia
12.
Scand J Infect Dis ; 37(11-12): 842-5, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16308218

RESUMO

The aim of the present study was to obtain data on the outcome of children with persistent vesicoureteral reflux (VUR) after cessation of antibiotic prophylaxis. Children with VUR who had been on antibiotic prophylaxis for at least 2 y and were free of urinary tract infections (UTI), had normal voiding patterns, and no hydronephrosis or new kidney scarring, had antibiotic prophylaxis discontinued, were followed up prospectively with urine cultures, voiding cystourethrography, and technecium-99m dimercaptosuccinate renal scintigraphy. The findings were compared with those of the same patients while they were on antibiotic prophylaxis. In 54 children (39 girls and 15 boys), antibiotic prophylaxis was discontinued. The mean follow-up time on and off antibiotic prophylaxis was 4.4+/-2.1 and 4.4+/-2.2 y, respectively. Nine UTI episodes occurred during the on- and 8 during the off-prophylaxis period. In 80 of 96 and in 68 of 74 ureters the reflux resolved or downgraded during the on- and off-prophylaxis periods, respectively. No new scar lesions were detected in any of the children. In conclusion, in children with persistent VUR and certain characteristics, antibiotic prophylaxis can be safely discontinued.


Assuntos
Antibacterianos/administração & dosagem , Refluxo Vesicoureteral/tratamento farmacológico , Criança , Pré-Escolar , Feminino , Seguimentos , Grécia , Humanos , Lactente , Rim/patologia , Masculino , Segurança , Fatores de Tempo , Infecções Urinárias/etiologia , Infecções Urinárias/patologia , Infecções Urinárias/prevenção & controle , Refluxo Vesicoureteral/complicações , Refluxo Vesicoureteral/patologia
13.
Clin Microbiol Infect ; 11(9): 736-43, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16104989

RESUMO

An open, prospective, randomised study was conducted to compare the safety and efficacy of valacyclovir vs. oral ganciclovir for cytomegalovirus (CMV) prophylaxis in renal transplant recipients. Eighty-three renal transplant recipients were assigned randomly to receive valacyclovir (n=43) or oral ganciclovir (n=40) for the first 3 months after transplantation. Both groups were similar in terms of demographics, primary renal disease, graft source, HLA matching, immunosuppressive therapy and donor-recipient CMV antibody status. CMV infection was diagnosed by detection of virus DNA in plasma with the Amplicor CMV Test. CMV disease was observed in only one patient belonging to the ganciclovir group, who developed enterocolitis 6 months post-transplantation. No difference was observed between the two treatment groups with respect to detection of CMV DNA, virus infections other than CMV, acute rejection episodes, and serum creatinine levels at 3 and 6 months following transplantation. An increased number of bacterial infections was noted in the ganciclovir group (p 0.003). No adverse reactions with either treatment were reported. The estimated cost of valacyclovir treatment was 20% higher than that of ganciclovir treatment. Overall, both valacyclovir and oral ganciclovir were found to be effective and safe for CMV prophylaxis in renal transplant recipients. Decisions regarding prophylactic regimens should include additional criteria, such as cost or possible development of resistance.


Assuntos
Aciclovir/análogos & derivados , Antivirais/administração & dosagem , Infecções por Citomegalovirus/etiologia , Infecções por Citomegalovirus/prevenção & controle , Ganciclovir/administração & dosagem , Transplante de Rim/efeitos adversos , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Valina/análogos & derivados , Aciclovir/administração & dosagem , Aciclovir/economia , Administração Oral , Adulto , Antivirais/economia , Custos e Análise de Custo , Feminino , Grécia , Humanos , Masculino , Valaciclovir , Valina/administração & dosagem , Valina/economia
14.
Infection ; 33(4): 292-4, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16091903

RESUMO

We report a case of hepatosplenic schistosomiasis with portal hypertension and variceal bleeding in an immigrant patient from Egypt, coinfected with Strongyloides stercoralis. The diagnosis was based on the following: (a) identification of Schistosoma mansoni ova in the stools and colonic biopsy specimens, (b) portal hypertension and esophageal varices with normal liver function and the absence of hepatic cirrhosis stigmata, (c) history of migration from an endemic area and (d) ultrasonographic findings of spleen and liver enlargement, fibrosed portal tracts, and normal lobular architecture of liver parenchyma. Hepatosplenic schistosomiasis should be suspected in any patient from an endemic area who has splenomegaly, portal hypertension, and esophageal varices bleeding in the absence of stigmata of liver cirrhosis and hepatic insufficiency. Coinfection with S. stercoralis could be attributed to common epidemiological features of the parasites and the patient's habits.


Assuntos
Hemorragia/etiologia , Hipertensão Portal/etiologia , Esquistossomose mansoni/complicações , Estrongiloidíase/complicações , Varizes/complicações , Varizes/etiologia , Animais , Humanos , Masculino , Pessoa de Meia-Idade , Schistosoma mansoni/isolamento & purificação , Schistosoma mansoni/patogenicidade , Strongyloides/isolamento & purificação , Strongyloides/patogenicidade
15.
Infection ; 33(1): 36-8, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15750759

RESUMO

Brain abscess is a rare complication of staphylococcal bacteremia in infants. Here we present a case of a premature infant who developed multiple brain abscesses 12 weeks following an episode of inadequately treated Staphylococcus aureus sepsis. The abscess developed in the absence of trauma, prior surgery, cyanotic heart disease, or immune defect. The initial staphylococcal isolate exhibited identical pulsed-field gel electrophoresis pattern with that of the isolate cultured from abscess aspirate. The infant was successfully treated by surgical drainage and administration of antibiotics for 12 weeks, initially teicoplanin and meropenem followed by trimethoprim/sulfamethoxazole, without neurological or developmental sequelae. Staphylococcal bacteremia in neonates should be vigorously treated to prevent life-threatening complications.


Assuntos
Abscesso Encefálico/microbiologia , Doenças do Prematuro/microbiologia , Sepse/complicações , Infecções Estafilocócicas , Antibacterianos/uso terapêutico , Abscesso Encefálico/tratamento farmacológico , Abscesso Encefálico/cirurgia , Feminino , Humanos , Recém-Nascido , Sepse/tratamento farmacológico , Infecções Estafilocócicas/tratamento farmacológico
16.
Clin Microbiol Infect ; 11(3): 232-4, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15715722

RESUMO

This report describes the first patient in Cyprus to be infected with a vancomycin-resistant enterococcus, as well as the microbiological characteristics of a cluster of vancomycin-resistant enterococcus isolates from the intensive care unit where the index case was hospitalised. All isolates were identified as Enterococcus faecalis, belonged to the same clone, and contained the vanA gene cluster. Transfer of glycopeptide resistance to a susceptible strain of E. faecalis could not be detected.


Assuntos
Enterococcus faecalis/efeitos dos fármacos , Resistência a Vancomicina , Adulto , Ampicilina/uso terapêutico , Portador Sadio , Chipre/epidemiologia , Enterococcus faecalis/genética , Infecções por Bactérias Gram-Positivas/epidemiologia , Infecções por Bactérias Gram-Positivas/microbiologia , Humanos , Unidades de Terapia Intensiva , Masculino , Fenótipo , Transformação Bacteriana
17.
Am J Med Genet A ; 131(2): 168-73, 2004 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-15523622

RESUMO

Wilson disease (WND) is caused by mutations in the ATP7B gene and exhibits substantial allelic heterogeneity. In this study we report the results of molecular analyses of 20 WND families not described previously. When combined with our prior results, the cohort includes 93 index patients from 69 unrelated families. Twenty different mutations accounted for 86% of the WND chromosomes. The most frequent were p.H1069Q (35%), p.R969Q (12%), c.2530delA (7%), p.L936X (7%), p.Q289X (7%), and p.I1148T (3%). We also present here a detailed phenotypic assessment for patients whose molecular result was previously reported. Thirty cases were homozygous for 9 different mutations, 13 of which were homozygous for p.H1069Q, and 7 for p.R969Q. Mutations p.H1069Q and p.R969Q appeared to confer a milder disease as patients showed disease onset at a later age, and were associated with milder severity when found in trans with severe mutations. Predicted nonsense and frameshift mutations were associated with severe phenotypic expression with earlier disease onset and lower ceruloplasmin values. WND can be treated by copper-chelation therapy, particularly if the disease is diagnosed before irreversible tissue damage occurs. Our results on the effect of predicted nonsense and frameshift mutations are especially important for early medical intervention in presymptomatic infants and children with these genotypes.


Assuntos
Adenosina Trifosfatases/genética , Proteínas de Transporte de Cátions/genética , Degeneração Hepatolenticular/genética , Mutação , Adolescente , Adulto , ATPases Transportadoras de Cobre , Análise Mutacional de DNA , Mutação da Fase de Leitura , Genótipo , Grécia , Humanos , Mutação de Sentido Incorreto , Fenótipo
18.
Int J Tuberc Lung Dis ; 8(8): 1027-31, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15305489

RESUMO

We analysed 37 clinical samples from 33 patients with bacteriologically confirmed tuberculosis, two cerebrospinal fluid samples from patients with cured tuberculous meningitis, and 14 serum samples from healthy individuals, for the presence of tuberculostearic acid (TSA) by frequency pulsed electron capture-gas chromatography (FPEC-GC) and chemical ionisation gas chromatography-mass spectrometry (CIGC-MS). TSA was detected in 36 of the 37 samples from patients with active tuberculosis and none of the patients with cured tuberculous meningitis; only one of 14 controls generated a similar chromatographic profile. Analysis of biological fluids by FPEC-GC and CIGC-MS for the presence of TSA may be a valuable method for rapid diagnosis of tuberculosis.


Assuntos
Líquidos Corporais/química , Ácidos Esteáricos/metabolismo , Tuberculose/metabolismo , Estudos de Casos e Controles , Criança , Cromatografia Gasosa/métodos , Cromatografia Gasosa-Espectrometria de Massas/métodos , Humanos
19.
Clin Microbiol Infect ; 10(2): 137-42, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14759238

RESUMO

Oropharyngeal swabs were cultured from 554 children aged 2-19 years attending nurseries, primary schools and secondary schools in the central Athens area. A questionnaire was completed to identify risk factors for carriage. Susceptibility to antimicrobial agents was determined by Etest. The genetic relatedness of the strains was examined by pulsed-field gel electrophoresis (PFGE), and isolate serogrouping was performed by slide agglutination. Twenty-two (4%) children were carriers of Neisseria meningitidis; seven isolates belonged to serogroup C, and five to serogroup B. One isolate was resistant to co-trimoxazole, and five showed intermediate resistance to penicillin. DNA analysis of 16 isolates revealed six distinct PFGE patterns. Clusters with indistinguishable PFGE patterns were noted in the same school. More than one serogroup was included in the same clonal group. On multivariate logistic regression analysis, only age > 12 years remained independently associated with the carrier state (odds ratio, 7.96; 95% CI, 2.24-28.33; p < 0.001). Overall, the N. meningitidis carriage rate among Greek schoolchildren increased with age, and the predominant serogroups in the Athens region were groups C and B. These findings may have important implications for future immunisation strategies with conjugate vaccines.


Assuntos
Portador Sadio/epidemiologia , Portador Sadio/microbiologia , Infecções Meningocócicas/microbiologia , Neisseria meningitidis/isolamento & purificação , Adolescente , Criança , Pré-Escolar , Eletroforese em Gel de Campo Pulsado , Feminino , Grécia/epidemiologia , Humanos , Masculino , Infecções Meningocócicas/epidemiologia , Neisseria meningitidis/classificação , Neisseria meningitidis/efeitos dos fármacos , Neisseria meningitidis/genética , Orofaringe/microbiologia , Fatores de Risco , Sorotipagem , Inquéritos e Questionários
20.
J Paediatr Child Health ; 39(8): 635-6, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-14629535

RESUMO

A 12-year-old girl with chronic otitis media complicated by petrositis and cerebellar abscess is presented. Early surgical intervention, in combination with broad-spectrum antibiotics, provided a good outcome. Life-threatening complications of otitis media, although rare, still occur in developed countries.


Assuntos
Abscesso Encefálico/etiologia , Doenças Cerebelares/etiologia , Osteíte/etiologia , Otite Média Supurativa/complicações , Osso Petroso , Abscesso Encefálico/diagnóstico , Abscesso Encefálico/patologia , Abscesso Encefálico/terapia , Doenças Cerebelares/diagnóstico , Doenças Cerebelares/terapia , Criança , Doença Crônica , Craniotomia , Feminino , Humanos , Osteíte/diagnóstico , Osteíte/terapia , Otite Média Supurativa/diagnóstico , Otite Média Supurativa/terapia , Tomografia Computadorizada por Raios X
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