Epidemiologic changes in bloodstream infections in Andalucía (Spain) during the last decade.

OBJECTIVES: During the last decade, some changes in the epidemiology of invasive infections have been reported; however, specific studies with patient-level data are scarce. The aim of this study was to describe and evaluate the epidemiologic changes in bloodstream infections (BSI) during the last decade in Andalucía, Spain. METHODS: Data from two prospective cohorts of BSI in adults with the same methodology performed 10 years apart in 11 hospitals (eight tertiary and three community) in Andalucía, Spain, were compared; the 2006-7 cohort study was performed between October 2006 and March 2007, and the 2016-17 cohort study was performed between October 2016 and March 2017. Population-based incidence rates were calculated and extrapolated for 1 year. Relative risk ratios were calculated between the 2 periods. Multivariate analyses were performed by logistic regression. RESULTS: Overall, 1262 episodes of BSI were included, 563 (44.6%) in 2006-7 and 699 (55.3%) in 2016-17. Multivariate models selected the following changes in patients' features in 2016-17, after controlling for type of acquisition: higher age (odds ratio (OR) = 1.02; 95% confidence interval [CI] 1.01-1.03), lower urinary catheter (OR = 0.37; 95% CI, 0.26-0.48) and lower Pitt score (OR = 0.76; 95% CI, 0.71-0.82). Adjusted estimations considering patients' features and exposure to procedures showed a reduction in coagulase-negative staphylococci (OR = 0.47; 95% CI, 0.32-0.69), and an increase in Proteus spp. (OR = 3.12; 95% CI, 1.18-8.23) and Candida spp. (OR = 3.01; 95% CI, 1.03-8.86). CONCLUSIONS: We found relevant epidemiologic changes in BSI in our area, including rates, frequency of acquisition types, changes in patient's profiles and aetiologic agents.

Antimicrobial susceptibility and molecular typing of toxigenic clinical isolates of Clostridium difficile causing infections in the south of Spain.

Antimicrobial susceptibility to 6 antimicrobial agents, PCR-ribotyping and molecular genetics of fluoroquinolone resistance was assessed in 70 toxigenic clinical isolates of C. difficile recovered from patients attended in a hospital in southern Spain with suspected Clostridium difficile infection. Moxifloxacin was the least active drug, mainly driven by the aminoacid substitution Thr82Ile in GyrA, while PCR-ribotype 078 was the most prevalent lineage identified and grouped several of the fluoroquinolone resistant isolates.

[Viral infections]. / Infecciones víricas.

Viruses cause disease after they break through the natural protective barriers of the body, evade immune control, and either kill cells of an important tissue or trigger a destructive immune and inflammatory response. The outcome of a viral infection is determined by the nature of the virushost interaction and the host's response to the infection. Viral infections can be lytic or persistent (latency, recurrence and / or transformation of the the cell). Immune response is the best treatment, but it often contributes to the pathogenesis of a viral infection. The laboratory methods accomplish the following results: description of virus-induced cytopathologic effects (CPEs) on cells, electron microscopic detection of viral particles, isolation and growth of the virus, detection of viral components (proteins and nucleic acids) and evaluation of the patient's immune response to the virus.

Síndrome de microduplicación 3q29 / 3q29 microduplication syndrome

La microduplicación 3q29 (MIM 611936) es un raro síndrome caracterizado por retraso mental moderado, rasgos dismórficos craneofaciales y anomalías musculoesqueléticas. La región mínima crítica tiene un tamaño de aproximadamente 1,73Mb, está flanqueada por secuencias repetitivas y es similar en tamaño a la microdeleción recíproca 3q29, sugiriendo para ambas una recombinación homóloga no alélica (NAHR) entre las secuencias repetitivas como mecanismo de producción. Describimos una nueva familia con diferente expresividad clínica en la paciente y su madre (AU)

3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity (AU)

[3q29 microduplication syndrome]. / Síndrome de microduplicación 3q29.

3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. The size of the minimal critical region is about 1.73 Mb. It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, suggesting a non-allelic homologous recombination event (NAHR) at flanking LCR sequences as its aetiological mechanism. We describe a new familial case with variable expressivity.

Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable / 15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity

Presentamos el caso de un niño con retraso psicomotor y rasgos dismórficos afectado de una microdeleción 15q11.2 de 1.5 Mb de origen paterno diagnosticada mediante array-based comparative genomic hybridization. La deleción está comprendida entre los puntos de rotura BP1-BP2 de la región crítica descrita para los síndromes Prader-Willi/Angelman. Comparamos las características clínicas de nuestro paciente con las halladas en los 10 casos de deleción puraBP1-BP2 descritos hasta la fecha (AU)

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by a CGH. The deletionis located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2deletion published to date (AU)

Microdeleción 7p14.1 y cefalopolisindactilia de Greig / 7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome

La cefalopolisindactilia de Greig es un síndrome autosómico dominante de baja prevalencia causado por mutaciones en el gen GLI3, localizado en 7p14.1 y caracterizado por la tríada clínica de polisindactilia, macrocefalia e hipertelorismo. En aproximadamente el 20% de los casos se detecta una deleción de tamaño variable. Si la deleción es grande y afecta a otros genes además de GLI3, puede aparecer un fenotipo más severo, aceptándose la denominación de cefalopolisindactilia de Greig-síndrome de genes contiguos para estos casos. Describimos el caso de una niña recién nacida con polisindactilia, hipertelorismo y microcefalia, que presenta una micro deleción en 7p14.1 de 1,5 Mb de origen paterno diagnosticada mediante array-CGH (AU)

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytob and 7p14.1 and characterized by the clinical triad ofpolysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacentgenes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH (AU)

[15Q11.2 (BP1-BP2) microdeletion, a new syndrome with variable expressivity]. / Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable.

The case of a boy with psychomotor retardation and dysmorphic features is presented. He has a 1.5 Mb 15q11.2 microdeletion of paternal origin diagnosed by aCGH. The deletion is located between breakpoints BP1 and BP2 of the Prader-Willi/Angelman syndromes critical region. Clinical features in our patient fit well with those described in ten cases of pure BP1-BP2 deletion published to date.

[7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome]. / Microdeleción 7p14.1 y cefalopolisindactilia de Greig.

Greig cephalopolysyndactyly is a rare autosomic dominant syndrome caused by mutations in GLI3 gene located on cytoband 7p14.1 and characterized by the clinical triad of polysyndactyly, macrocephaly and hypertelorism. In approximately 20% of the cases a deletion of variable size is detected. If deletion is large and affects other genes as well as GLI3, a more severe phenotype is expected. Thus, Greig cephalopolysyndactyly contiguous gene syndrome is a multiple malformation syndrome caused by haploinsufficiency of GLI3 and adjacent genes. We describe the case of a newborn female with polysyndactyly, hypertelorism and microcephaly and a 1.5 Mb 7p14.1 microdeletion of paternal origin diagnosed by array-CGH.

Microbiological characteristics and susceptibility patterns of strains of Rhodotorula isolated from clinical samples.

The members of the genus Rhodotorula show a marked ubiquity. In man, they have been isolated from faeces, nails, skin, sputum, digestive tract and adenoids, forming part of the normal human flora, although in recent years cases have been reported of both local and systemic infection by this yeast. There are virtually no studies in the literature on the sensitivity of this genus to the antifungal agents in common clinical use. Therefore, it is considered of interest to study the microbiological characteristics and the susceptibility patterns of Rhodotorula isolated from clinical samples. A total of 35 different strains of Rhodotorula were studied. In vitro susceptibility testing to 5-fluorocytosine, amphotericin B, ketoconazole, fluconazole and itraconazole was performed. All the strains were considered sensitive to 5-fluorocytosine, amphotericin B, ketoconazole and itraconazole and resistant to fluconazole. As a conclusion, we can state that all the antifungal agents tested, except fluconazole, are useful medicaments for the treatment of infections by the Rhodotorula genus.

[Usefulness of the CHROM-agar Candida culture medium in the differentiation and presumed identification of yeast of clinical interest]. / Utilidad del medio de cultivo CHROM-agar Candida para la diferenciación e identificación presuntiva de levaduras de interés clínico.

BACKGROUND: The efficiency of a novel differential culture medium, CHROM-agar Candida, is evaluated in order to differentiation and presumptive identification of clinically important yeasts. METHODS: We studied 600 clinical yeast strains, pertaining to 8 genera (Candida, Cryptococcus, Geotrichum, Rhodotorula, Trichosporon, Kluyveromyces, Pichia and Saccharomyces) and 27 species. Strains were previously identified by conventional methods and by commercial system ATB ID32C (Bio-Mérieux). RESULTS: Four species (C. albicans, C. krusei, C. tropicalis and t. beigelii) were presumptive recognized after 48-72 hours of incubation, regarding their colonial morphology and color. Colony color of other species showed low specificity. CONCLUSION: CHROM-agar Candida medium is recommended for recognition of mixed yeast cultures and differentiation of the common clinically yeast species.

[2 new cases of Y-autosome translocation associated with azoospermia]. / Dos nuevos casos de translocación Y-autosoma asociada con azoospermia.

We present two new cases of Y-autosome translocation which were detected in two azoospermic males. In the first case the translocation was de novo with the karyotype: 46,XY,t(Y;16)(q12;q11-12). In the second case the karyotype was: 46,XY,t(Y;1)(cen-q11;cen-p11), t(Y;15)(q12;p11), the mother having been a carrier of the same Y-15 translocation, and showing the chromosomic formula: 46,XX,t(Y;15)(q12;p11).

[Chromosome anomalies found in a cytogenetic study of 750 healthy newborn infants]. / Anomalías cromosómicas encontradas en un estudio citogenético realizado en 750 niños recién nacidos sanos.

Cytogenetic studies on newborn infants show a high incidence in chromosomal abnormalities (0.5-1% of the population). Chromosomal study is carried out on 750 children from the University Hospital of Valencia over a two-year period, chosen at random and without any clinical pathology. Five gonosomopathies and three autosomopathies were found. In the former, three 47,XXY, one triple-X, and one isochromosome of long arms of chromosome X, were detected. In autosomal chromosomopathies, a Robertsonian translocation was seen between chromosomes 13 and 14, a reciprocal translocation between chromosomes 8 and 10, and an inversion of chromosome 3. Altogether eight cytogenetic anomalies appeared, a percentage slightly over one percent. Importance of early diagnosis of chromosomal abnormalities is discussed, with the aim of establishing adequate treatment when possible, and genetic counselling for the family.