ABSTRACT
Leishmaniasis is an infectious disease caused by protozoa of the genus Leishmania, which is endemic in certain areas of Europe, such as southern Spain. The disease manifests in various clinical phenotypes, including visceral, cutaneous, mucosal, or asymptomatic leishmaniasis. This diversity in clinical outcomes may be influenced by the host immune response, with human leukocyte antigen (HLA) molecules playing a crucial role in determining susceptibility and progression of the infection. This study explores the association between specific HLA variants and Leishmania infantum infection. We recruited four cohorts: a control group, asymptomatic individuals, patients with symptomatic disease, and cohabitants of infected individuals. HLA typing was performed for all participants, followed by an association analysis with infection status and disease progression. Our findings indicate that the HLA-B*38 and HLA-C*03 alleles are associated with protection against L. infantum infection. These results contribute to a better understanding of the disease's progression, offer potential for new therapeutic approaches such as vaccines, and expand the existing knowledge in the literature.
Subject(s)
Alleles , Leishmania infantum , Humans , Leishmania infantum/genetics , Spain/epidemiology , Male , Female , Adult , Genetic Predisposition to Disease , Leishmaniasis, Visceral/genetics , Leishmaniasis, Visceral/parasitology , Leishmaniasis, Visceral/immunology , Leishmaniasis, Visceral/epidemiology , Cohort Studies , Middle Aged , HLA Antigens/genetics , Gene FrequencyABSTRACT
Veillonella parvula is a non-motile gram-negative coccus that forms part of the normal microbiota in several body sites and which has been rarely isolated as cause of infections in human population, particularly in bacteremias. Here we give the overview of characteristics of genus Veillonella and the summary of its role in infections, particularly in bacteremia. We additionally report two patients with bacteremia due to V. parvula. Two sets of blood cultures of each patient yielded a pure culture of an anaerobic microorganism identified as V. parvula by MALDI-TOF MS, and confirmed by 16S rRNA gene sequencing. The two patients were male and one of them had risk factors for anaerobic bacteremia. The isolates were susceptible to most antibiotics and the outcome was successful in both patients. Bacteremia due to V. parvula is still rare. MALDI-TOF MS appear to be an excellent tool for the correct identification of these species.
Subject(s)
Anti-Bacterial Agents , Bacteremia , Gram-Negative Bacterial Infections , RNA, Ribosomal, 16S , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Veillonella , Humans , Bacteremia/microbiology , Bacteremia/diagnosis , Male , RNA, Ribosomal, 16S/genetics , Anti-Bacterial Agents/therapeutic use , Anti-Bacterial Agents/pharmacology , Veillonella/genetics , Veillonella/isolation & purification , Veillonella/classification , Gram-Negative Bacterial Infections/microbiology , Gram-Negative Bacterial Infections/diagnosis , Middle Aged , Sequence Analysis, DNA , Aged , Microbial Sensitivity Tests , DNA, Bacterial/genetics , Treatment Outcome , AdultABSTRACT
Sexually transmitted infections (STI) are a public health problem. Real-time PCR assays are the most sensitive test for screening and diagnosis of these infections. The aim of this study was to evaluate a new CT/NG/TV/MG Real-Time PCR (RT-PCR) kit (Vircell) for the detection of Chamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium and Trichomonas vaginalis for the diagnosis of sexual transmitted infections using the Allplex STI Essential Assay (Seegene) as the reference's method. A total of 497 samples from different anatomical sites (endocervical, urethral, rectal, pharyngeal and urine) were analysed from October 2022 to February 2023. A total of 108 (21.73â%) and 106 (21.33â%) positive samples were found for any of the assays used. The most commonly detected pathogen was N. gonorrhoeae (52 samples; 10.46â%), and the least commonly detected was T. vaginalis (three samples; 0.60â%). The anatomical site with the highest prevalence of micro-organisms was a non-urogenital site, the pharynx (26 positive samples; 5.23â%). Using the Allplex STI Essential Assay (Seegene) as the reference method, the diagnosis performance showed that the average specificity of CT/NG/TV/MG RT-PCR Kit (Vircell) was 99.84â% and the sensitivity was 99.53â%. The overall concordance was k=0.98 (CI95â%; 0.96-1). In conclusion, the CT/NG/TV/MG RT-PCR Kit (Vircell) assay shows a good sensitivity and specificity and constitutes a promising and additional alternative to routine procedures for distinct types of clinical specimen in diagnosis STI.
Subject(s)
Chlamydia Infections , Gonorrhea , Mycoplasma Infections , Mycoplasma genitalium , Sexually Transmitted Diseases , Trichomonas vaginalis , Humans , Real-Time Polymerase Chain Reaction , Chlamydia trachomatis/genetics , Sexually Transmitted Diseases/diagnosis , Sexually Transmitted Diseases/epidemiology , Trichomonas vaginalis/genetics , Neisseria gonorrhoeae/genetics , Mycoplasma genitalium/genetics , Mycoplasma Infections/diagnosis , Mycoplasma Infections/epidemiology , Tomography, X-Ray Computed , Chlamydia Infections/diagnosis , Gonorrhea/diagnosis , Gonorrhea/epidemiologyABSTRACT
La otitis media tuberculosa (OMT) es una afectación rara en nuestro medio que supone un reto en su diagnóstico debido a los síntomas inespecíficos que suele presentar. Este trabajo presenta nuestra experiencia en el diagnóstico de un caso de OMT en una mujer de 66 años con pérdida auditiva y otorrea crónica de más de 6 meses de evolución, que no respondía a los tratamientos convencionales. Además, se realiza una re visión de los casos publicados en los últimos 20 años (2000- 2022) en países de la Unión Europea (EU). Se incluyeron un total de 25 artículos con datos sobre 43 pacientes diagnostica dos de OMT. Las edades se situaron en un rango de: 3 meses - 87 años con un mayor porcentaje de mujeres (n=30; 69,77%). El tiempo medio de diagnóstico fue de 13,6 meses (rango, 1-72 meses). Los síntomas más comunes fueron otorrea (n=43; 100%), pérdida auditiva (n=37; 86,05%), perforación timpá nica (n=19; 44,18%), parálisis facial (n=12, 27,91%) y otalgia (n=13; 30,23%). La muestra empleada en mayor porcentaje para el diagnóstico fue la biopsia obtenida por mastoidectomía (n=34; 79,06%). Todos los pacientes fueron tratados con anti tuberculosos con una media de duración de 8,11 meses (rango, 6-12 meses). La secuela más frecuente fue la pérdida auditiva (n=28; 65,12%). La OMT debe incluirse en el diagnóstico dife rencial de las otitis supurativas crónicas ya que el diagnóstico y tratamiento precoz disminuyen la probabilidad de sufrir se cuelas irreversibles (AU)
Tuberculous otitis media (TOM) is a rare affectation in our environment that represents a challenge in its diagnosis due to the non-specific symptoms that it usually presents. This paper presents our experience in the diagnosis of a case of TOM in a 66-year-old woman with hearing loss and chronic otorrhea of more than 6 months of evolution that did not respond to con ventional treatments. In addition, a review of the cases pub lished in the last 20 years (2000-2022) in countries of the Eu ropean Union (EU) is carried out. The most common symptoms were otorrhea (n=43; 100%), hearing loss (n=37; 86.05%), eardrum perforation (n=19; 44.18%), facial paralysis (n=12, 27,91%) and ear pain (n=13; 30,23%). The most used sam ple for diagnosis was the biopsy obtained by mastoidectomy (n=34; 79.06%). All patients were given antituberculous ther apy for a mean duration of 8.11 months (range, 6-12 months). The most frequent aftereffect was hearing loss (n=28; 65.12%). TOM should be included in the differential diagnosis of chronic suppurative otitis, since early diagnosis and treatment reduce the probability of suffering irreversible sequelae (AU)
Subject(s)
Humans , Female , Aged , Otitis Media/diagnosis , Otitis Media/microbiology , Tuberculosis/diagnosisABSTRACT
Clostridium innocuum is a Gram-positive anaerobic spore-forming bacillus that has been identified as part of the normal intestinal microbiota. This bacterium has been rarely associated with human infections, and only few severe infections have been reported until now. In this work, we report on four patients with bacteremia due to C. innocuum, which were well identified by MALDI-TOF MS. Moreover, a review of the previous published cases of bacteremia due to this anaerobic bacterium has been performed.
Subject(s)
Bacteremia , Clostridium Infections , Humans , Clostridium Infections/drug therapy , Anti-Bacterial Agents/therapeutic use , Base Composition , Sequence Analysis, DNA , RNA, Ribosomal, 16S , Phylogeny , Clostridium , Bacteremia/drug therapy , Spectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationABSTRACT
BACKGROUND AND AIMS: Common variable immunodeficiency (CVID) comprises a group of diseases with heterogeneous clinical and immunological manifestations. Several mutations have been identified in genes encoding proteins essential for immune function. Our aim was to phenotypically and genotypically characterize a patient diagnosed with CVID and study his response to the SARS-CoV-2 vaccine. METHODS: We performed a next-generation sequencing analysis, a CMIA, and an ELISA to analyze the humoral and cellular response to the SARS-CoV-2 vaccine, respectively. We also employed flow cytometry and immunoturbidimetry to assess the patient's global immune status. RESULTS: We found a low humoral but positive cellular response to the SARS-CoV-2 vaccine. NGS screening revealed a transition from guanine to adenine at position c.485 of the IKZF1 gene in heterozygosity, giving rise to the R162Q variant, which was not present in his parents. CONCLUSIONS: The R162Q variant of the IKZF1 gene has been associated with CVID type 13, but always with an autosomal dominant inheritance with high penetrance. Therefore, we present for the first time a case of CVID associated with a de novo heterozygous R162Q variant in the IKZF1 gene in a patient with a low humoral immune response to the complete COVID-19 vaccination program.