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1.
Hemoglobin ; 46(4): 240-244, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-36106536

RESUMEN

We report a novel mutation on the ß-globin gene in a 68-year-old woman of Sicilian origin living in Alessandria, Italy. This mutation produces a hemoglobin (Hb) variant of Hb A that was detected by the capillary electrophoresis (CE) method during measurement of Hb A1c. The variant Hb did not separate from Hb A using different high performance liquid chromatography (HPLC) instruments. Direct DNA sequencing revealed a G>T transversion at codon 37 and subsequent substitution of a tryptophan residue for a leucine residue. The new Hb variant was named Hb Alessandria [ß37(C3)Trp→Leu; HBB: c.113G>T]. The p50 value was slightly decreased while the stability test at 37 °C in isopropyl alcohol and the main erythrocyte parameters were normal. Overall, the patient appeared clinically normal.


Asunto(s)
Hemoglobinas Anormales , Globinas beta , Femenino , Humanos , Anciano , Globinas beta/genética , Hemoglobinas Anormales/genética , Leucina/genética , Oxígeno , Electroforesis Capilar , Mutación , Cromatografía Líquida de Alta Presión
2.
Artículo en Inglés | MEDLINE | ID: mdl-36534066

RESUMEN

BACKGROUND: Urinary tract infections (UTIs) are a frequent disorder of childhood, mainly caused by Escherichia coli. The aim of this study was to evaluate the antimicrobial susceptibility trend in bacterial isolates in urine cultures in pediatric environment, analyzing data from our laboratory in a 6-year period. METHODS: A retrospective study was performed in AO SS. Antonio e Biagio e Cesare Arrigo (Pediatric Hospital) of Alessandria in Piedmont, North Ital. From 2015 to 2020, in a 6-year period, 1299 urinocultures were collected. Data collection was focused on demographic characteristics (age and sex) and laboratory findings (positive urocultures, antibiogram). RESULTS: Positive urocultures were 577, in which Escherichia coli represented most isolates (428, 74.2%). We found a statistically significant trend toward amoxiclavulanate resistance in the E. coli positive urinoculture comparing the period 2015-2018 vs. 2019-2020. CONCLUSIONS: Actual guidelines mostly recommend for amoxicillin-clavulanate prescription as first-line option for pediatric UTI management, this indication might be partially reconsidered. Our data underline the importance to conduct surveillance studies to determine local prevalence of antibiotic resistance to optimize therapeutic management.

3.
Infez Med ; 27(2): 141-148, 2019 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-31205036

RESUMEN

Infectious meningitis and encephalitis are potentially life-threatening conditions caused mostly by bacterial and viral agents. Rapid diagnosis and prompt treatment are associated with a more favorable outcome. In recent years nucleic acid amplification tests have been developed to speed detection and identification of pathogens directly from cerebrospinal fluid (CSF). The aim of this study was to compare the diagnostic accuracy of a commercially available multiplex PCR assay for etiological diagnosis of infectious meningitis directly from CSF samples with culture. A secondary endpoint was to look for a possible screening threshold based on main CSF indices and urgent blood test results, to define CSF samples with low pre-test probability of PCR and/or culture-positive result. We performed a secondary analysis of results of CSF samples already processed as part of routine clinical care from February 2016 to December 2018. In all, 109 CSF samples were included in the study and a total of 14 bacteria were identified by either PCR, culture or both methods, along with nine samples positive for viruses. The comparison of PCR results with culture showed no significant difference: 7/109 (6.4%) vs 13/109 (11.9%) respectively, p=0.07. After exclusion of the isolates not detectable by the multiplex PCR panel, the diagnostic accuracy was: 100% (95% confidence interval (CI): 54.1% to 100%) sensitivity; 98.9% (95% CI: 93.5% to 99.9%) specificity; 85.7% (95% CI: 42% to 99.2%) positive predictive value; 100% (95% CI: 95.1% to 100%) negative predictive value; 96 (95% CI: 13.6 to 674.6) LR+; Zero LR-; Cohen's kappa: 0.918, p<0.0001. CSF protein value ≤ 28 mg/dl and CSF glucose/blood glucose ratio ≥0.78 were associated with both PCR-negative result for bacteria or viruses and culture-negative result. The multiplex PCR evaluated in this study showed a very good diagnostic performance compared to culture, and the thresholds found can be a useful tool to best choose which samples to test.


Asunto(s)
Encefalitis Infecciosa/diagnóstico , Meningitis Bacterianas/diagnóstico , Meningitis Fúngica/diagnóstico , Meningitis Viral/diagnóstico , Reacción en Cadena de la Polimerasa Multiplex/normas , Adulto , Anciano , Intervalos de Confianza , Encefalitis Viral/líquido cefalorraquídeo , Encefalitis Viral/diagnóstico , Encefalitis Viral/virología , Femenino , Hospitales Generales , Humanos , Encefalitis Infecciosa/líquido cefalorraquídeo , Encefalitis Infecciosa/microbiología , Masculino , Meningitis Bacterianas/líquido cefalorraquídeo , Meningitis Bacterianas/microbiología , Meningitis Fúngica/líquido cefalorraquídeo , Meningitis Fúngica/microbiología , Meningitis Viral/líquido cefalorraquídeo , Meningitis Viral/virología , Persona de Mediana Edad , Curva ROC , Estudios Retrospectivos , Sensibilidad y Especificidad , Adulto Joven
4.
Am J Clin Pathol ; 132(2): 186-90; quiz 306, 2009 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-19605812

RESUMEN

T-cell antigen expression can be observed in B-cell non-Hodgkin lymphoma (B-NHL). Although CD5 is expressed in B-cell chronic lymphocytic leukemia (B-CLL) and mantle cell lymphoma, the presence of other T-cell antigens is less common. This article reports a retrospective multicenter analysis in which flow cytometry was used to evaluate aberrant CD8 expression on the pathologic B cells of 951 bone marrow samples from patients with various types of B-NHL. In a total of 18 patients, CD8 was coexpressed: 10 had B-CLL; 1, small lymphocytic lymphoma (SLL); 1, marginal zone lymphoma; 1, lymphoplasmacytic lymphoma; 2, diffuse large B-cell lymphoma; and 3, follicular lymphoma. There was a 1.89% overall frequency of CD8 coexpression in which B-CLL/SLL had a higher frequency (3.03%) than did the other B-cell neoplasms (1.18%). Most cases were characterized by a favorable outcome.


Asunto(s)
Biomarcadores de Tumor/análisis , Antígenos CD8/biosíntesis , Linfoma de Células B/metabolismo , Linfoma de Células B/patología , Antígenos CD19/biosíntesis , Médula Ósea/metabolismo , Médula Ósea/patología , Antígenos CD5/biosíntesis , Citometría de Flujo , Humanos , Estudios Retrospectivos
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