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1.
Infect Prev Pract ; 6(4): 100399, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-39430812

RESUMO

Background: Paediatric acute bronchiolitis normally occurs from October to April in the temperate northern hemisphere, peaking in January. Nonpharmacological measures to control the spread of COVID-19 resulted in a decrease in the number of cases of bronchiolitis during the 2020-21 season. The discontinuation of these measures created an uncertain scenario. Aim: To describe the epidemiological evolution of acute bronchiolitis seasons and the changes in the demographics of the affected population before, during, and after the implementation of nonpharmacological interventions for COVID-19 in Spain. Methods: This was a multicentre and descriptive study. A total of 6,334 infants aged up to 12 months who were diagnosed with acute bronchiolitis were recruited from sixteen Spanish hospitals. We collected data from participants from September 1st, 2021, through August 31st, 2023, as part of the ECEALHBA research project. The study periods were before (P1), during (P2), and after (P3) the COVID-19 pandemic. Findings: In P2 and after the discontinuation of nonpharmacological interventions, an unexpected increase in the number of acute bronchiolitis cases was observed from June-August 2021, resulting in an out-of-season peak. A subsequent peak was observed in November 2021, earlier than expected for the 2021-22 season. In the 2022-23 season, admissions followed a historical trend, with a greater number of cases than in the two previous seasons. Statistically significant differences in the length of stay (p<0.001), number of RSV infections (p=0.021), and number of paediatric intensive care unit admissions (p<0.001) were observed among the periods. Conclusions: Two out-of-season peaks in the number of acute bronchiolitis cases were observed in 2020-2021 and 2021-2022. However, following the relaxation of nonpharmacological intervention measures, the peak observed in 2022-2023, although occurring 2-6 weeks earlier, was more similar to the peaks observed in the prepandemic seasons. Additionally, increased case severity was observed during these periods.

2.
PLoS One ; 19(8): e0307174, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39146292

RESUMO

Pseudomonas aeruginosa is an opportunist bacterium that causes acute and chronic infections. During acute infections, the type III secretion system (T3SS) plays a pivotal role in allowing the bacteria to translocate effectors such as ExoS, ExoT, and ExoY into host cells for colonization. Previous research on the involvement of quorum sensing systems Las and Rhl in controlling the T3SS gene expression produced ambiguous results. In this study, we determined the role of the Las and Rhl systems and the PqsE protein on T3SS expression. Our results show that in the wild-type PAO1 strain, the deletion of lasR or pqsE do not affect the secretion of ExoS. However, rhlI inactivation increases the expression of T3SS genes. In contrast to the rhlI deletion, rhlR inactivation decreases both T3SS genes expression and ExoS secreted protein levels, and this phenotype is restored when this mutant is complemented with the exsA gene, which codes for the master regulator of the T3SS. Additionally, cytotoxicity is affected in the rhlR mutant strain compared with its PAO1 parental strain. Overall, our results indicate that neither the Las system nor PqsE are involved in regulating the T3SS. Moreover, the Rhl system components have opposite effects, RhlI participates in negatively controlling the T3SS expression, while RhlR does it in a positive way, and this regulation is independent of C4 or PqsE. Finally, we show that rhlR, rhlI, or pqsE inactivation abolished pyocyanin production in T3SS-induction conditions. The ability of RhlR to act as a positive T3SS regulator in the absence of its cognate autoinducer and PqsE shows that it is a versatile regulator that controls different virulence traits allowing P. aeruginosa to compete for a niche.


Assuntos
Proteínas de Bactérias , Regulação Bacteriana da Expressão Gênica , Pseudomonas aeruginosa , Percepção de Quorum , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/metabolismo , Pseudomonas aeruginosa/fisiologia , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Percepção de Quorum/genética , Sistemas de Secreção Tipo III/metabolismo , Sistemas de Secreção Tipo III/genética , Transativadores/genética , Transativadores/metabolismo
3.
Diagnostics (Basel) ; 14(13)2024 Jul 03.
Artigo em Inglês | MEDLINE | ID: mdl-39001314

RESUMO

BACKGROUND: to prove the effectivity of fertility-sparing procedures in early-stage ovarian cancer by assessing pregnancy rates and obstetrical outcomes. METHODS: we performed a retrospective multicenter study among 55 Spanish hospitals, collecting patients from 18 to 40 years old with diagnosis of early-stage ovarian cancer, epithelial (EOC) or non-epithelial (non-EOC), from January 2010 to December 2019. Data on the use of assisted reproductive techniques, pregnancy attempts and obstetrical outcomes were collected. RESULTS: a total of 150 patients met inclusion criteria, 70 (46.6%) EOC and 80 (53.4%) non-EOC. Pregnancy attempts were reported in 51 (34%) patients, with 42 (28%) patients carrying the pregnancy to term. Among them, 30 (71.4%) underwent surgery alone and 12 (28.6%) had additional postoperative chemotherapy. A total of 32 (76.1% patients) had spontaneous pregnancies and 10 (23.9%) required in vitro fertilization. There was only one (2.4%) complication reported. Vaginal delivery was reported in twenty-nine (69%) patients and cesarean section in five (11.9%) patients. CONCLUSIONS: fertility-sparing management for ovarian cancer seems to be an option with proven good pregnancy rates and low complications. The selection of patients must consider strict criteria in order to maintain a good prognosis.

4.
Nat Commun ; 15(1): 6308, 2024 Jul 26.
Artigo em Inglês | MEDLINE | ID: mdl-39060266

RESUMO

Pollinator-driven evolution of floral traits is thought to be a major driver of angiosperm speciation and diversification. Ophrys orchids mimic female insects to lure male pollinators into pseudocopulation. This strategy, called sexual deception, is species-specific, thereby providing strong premating reproductive isolation. Identifying the genomic architecture underlying pollinator adaptation and speciation may shed light on the mechanisms of angiosperm diversification. Here, we report the 5.2 Gb chromosome-scale genome sequence of Ophrys sphegodes. We find evidence for transposable element expansion that preceded the radiation of the O. sphegodes group, and for gene duplication having contributed to the evolution of chemical mimicry. We report a highly differentiated genomic candidate region for pollinator-mediated evolution on chromosome 2. The Ophrys genome will prove useful for investigations into the repeated evolution of sexual deception, pollinator adaptation and the genomic architectures that facilitate evolutionary radiations.


Assuntos
Orchidaceae , Polinização , Aranhas , Animais , Orchidaceae/genética , Orchidaceae/fisiologia , Polinização/genética , Aranhas/genética , Aranhas/fisiologia , Genoma de Planta , Filogenia , Flores/genética , Flores/fisiologia , Adaptação Fisiológica/genética , Elementos de DNA Transponíveis/genética , Masculino , Feminino , Evolução Molecular , Duplicação Gênica , Isolamento Reprodutivo , Evolução Biológica
5.
Anal Chem ; 2024 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-39028890

RESUMO

MicroRNAs (miRNAs), which are short single-stranded RNA sequences between 18 and 24 nucleotides, are known to play a crucial role in gene expression. Changes in their expression are not only involved in many diseases but also as a response to physiological changes, such as physical exercise. In this work, a new analytical strategy for the sensitive and specific analysis of miRNA sequences in human plasma is presented. The developed strategy does not depend on any nucleic acid amplification process and can be obtained in direct correlation to the number of events obtained by using single-particle ICP-MS measurements. The high selectivity of the assay (up to single nucleotide polymorphisms) can be achieved by a double hybridization process of the target miRNA with a complementary capture oligonucleotide that is conjugated to a magnetic microparticle and simultaneously with a complementary reporter oligonucleotide conjugated to a gold nanoparticle. Thanks to the novel approach followed in this method, the stoichiometry of the oligonucleotide-nanoparticle conjugates does not need to be addressed for the quantification of the target miRNA, which also represents a big advantage over other similar methods. The optimized method is applied to the determination of a miRNA as a biomarker of physical exercise in non-spiked human serum samples, and the results are validated against rt-qPCR. The achieved sensitivity permits the direct differentiation among sedentary and sportive subjects. This general platform can be easily applied to any other sequence by only modifying the capture and reporter oligonucleotides, paving the way for multiple clinically interesting applications.

6.
PLoS One ; 19(5): e0303789, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38768102

RESUMO

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal disease caused by lowered activity of the enzyme alpha-L-iduronidase (IDUA). Current therapeutic options show limited efficacy and do not treat some important aspects of the disease. Therefore, it may be advantageous to identify strategies that could improve the efficacy of existing treatments. Pharmacological chaperones are small molecules that protect proteins from degradation, and their use in combination with enzyme replacement therapy (ERT) has been proposed as an alternative therapeutic strategy. Using the SEE-Tx® proprietary computational drug discovery platform, a new allosteric ligand binding cavity in IDUA was identified distal from the active site. Virtual high-throughput screening of approximately 5 million compounds using the SEE-Tx® docking platform identified a subset of small molecules that bound to the druggable cavity and functioned as novel allosteric chaperones of IDUA. Experimental validation by differential scanning fluorimetry showed an overall hit rate of 11.4%. Biophysical studies showed that one exemplary hit molecule GT-01803 bound to (Kd = 22 µM) and stabilized recombinant human IDUA (rhIDUA) in a dose-dependent manner. Co-administration of rhIDUA and GT-01803 increased IDUA activity in patient-derived fibroblasts. Preliminary in vivo studies have shown that GT-01803 improved the pharmacokinetic (PK) profile of rhIDUA, increasing plasma levels in a dose-dependent manner. Furthermore, GT-01803 also increased IDUA enzymatic activity in bone marrow tissue, which benefits least from standard ERT. Oral bioavailability of GT-01803 was found to be good (50%). Overall, the discovery and validation of a novel allosteric chaperone for rhIDUA presents a promising strategy to enhance the efficacy of existing treatments for MPS I. The compound's ability to increase rhIDUA activity in patient-derived fibroblasts and its good oral bioavailability underscore its potential as a potent adjunct to ERT, particularly for addressing aspects of the disease less responsive to standard treatment.


Assuntos
Iduronidase , Mucopolissacaridose I , Iduronidase/metabolismo , Iduronidase/genética , Mucopolissacaridose I/tratamento farmacológico , Humanos , Regulação Alostérica/efeitos dos fármacos , Animais , Camundongos , Terapia de Reposição de Enzimas/métodos , Descoberta de Drogas , Fibroblastos/metabolismo , Fibroblastos/efeitos dos fármacos , Proteínas Recombinantes/metabolismo , Estabilidade Enzimática , Simulação de Acoplamento Molecular
7.
Int J Microbiol ; 2024: 6959403, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38784405

RESUMO

Pseudomonas aeruginosa is an opportunistic pathogen found in a wide variety of environments, including soil, water, and habitats associated with animals, humans, and plants. From a One Health perspective, which recognizes the interconnectedness of human, animal, and environmental health, it is important to study the virulence characteristics and antibiotic susceptibility of environmental bacteria. In this study, we compared the virulence properties and the antibiotic resistance profiles of seven isolates collected from the Gulf of Mexico with those of seven clinical strains of P. aeruginosa. Our results indicate that the marine and clinical isolates tested exhibit similar virulence properties; they expressed different virulence factors and were able to kill Galleria mellonella larvae, an animal model commonly used to analyze the pathogenicity of many bacteria, including P. aeruginosa. In contrast, the clinical strains showed higher antibiotic resistance than the marine isolates. Consistently, the clinical strains exhibited a higher prevalence of class 1 integron, an indicator of anthropogenic impact, compared with the marine isolates. Thus, our results indicate that the P. aeruginosa marine strains analyzed in this study, isolated from the Gulf of Mexico, have similar virulence properties, but lower antibiotic resistance, than those from hospitals.

8.
Pediatr Allergy Immunol ; 35(2): e14073, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38351896

RESUMO

PURPOSE: We aimed to describe the clinical, immunological, and genetic features of patients with DOCK8 deficiency (DOCK8-Def) in a tertiary care center for children. METHODS: Retrospective chart review of patients' clinical, immunological, and genetic characteristics with DOCK8-Def. Genetic analysis was performed with targeted- or whole-exome sequencing; we also assessed DOCK8 protein expression and a lymphoproliferation assay and analyzed survival by the Kaplan-Meier method. RESULTS: We described 11 patients from 8 unrelated kindreds. The median age at symptoms' onset was 10 months (range 1-54 months). The median follow-up time was 53.4 months (4.8-118.8). All patients presented eczema and recurrent sinopulmonary and cutaneous infections. Besides those symptoms, the most frequent manifestations were bronchiectases (8/11), food allergies (6/11), and severe infections (6/11). Infrequent characteristics were detection of CMV in bronchial lavage, C. parvum-driven sclerosing cholangitis, Takayasu vasculitis, neurological syndromes, pulmonary tuberculosis, and lymphomatoid granulomatosis. CONCLUSION: DOCK8-Def has a broad spectrum of manifestations, including allergy, autoimmunity, inflammation, infection, and cancer. The hallmark of this inborn error of immunity is IEI-associated eczema with eosinophilia and increased IgE. Here, we report six new mutations causing human DOCK8 deficiency and symptoms previously unrecognized to occur in DOCK8-Def. Therefore, an early diagnosis of DOCK8-Def is essential to facilitate an adequate treatment such as HSCT.


Assuntos
Eczema , Hipersensibilidade , Síndrome de Job , Criança , Humanos , Lactente , Pré-Escolar , Estudos Retrospectivos , Síndrome de Job/genética , Eczema/epidemiologia , Eczema/genética , Mutação , Fatores de Troca do Nucleotídeo Guanina/genética
9.
PLoS One ; 18(11): e0294437, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38019733

RESUMO

Site-directed Enzyme Enhancement Therapy (SEE-Tx®) technology is a disease-agnostic drug discovery tool that can be applied to any protein target of interest with a known three-dimensional structure. We used this proprietary technology to identify and characterize the therapeutic potential of structurally targeted allosteric regulators (STARs) of the lysosomal hydrolase ß-galactosidase (ß-Gal), which is deficient due to gene mutations in galactosidase beta 1 (GLB1)-related lysosomal storage disorders (LSDs). The biochemical HaloTag cleavage assay was used to monitor the delivery of wildtype (WT) ß-Gal and four disease-related ß-Gal variants (p.Ile51Thr, p.Arg59His, p.Arg201Cys and p.Trp273Leu) in the presence and absence of two identified STAR compounds. In addition, the ability of STARs to reduce toxic substrate was assessed in a canine fibroblast cell model. In contrast to the competitive pharmacological chaperone N-nonyl-deoxygalactonojirimycin (NN-DGJ), the two identified STAR compounds stabilized and substantially enhanced the lysosomal transport of wildtype enzyme and disease-causing ß-Gal variants. In addition, the two STAR compounds reduced the intracellular accumulation of exogenous GM1 ganglioside, an effect not observed with the competitive chaperone NN-DGJ. This proof-of-concept study demonstrates that the SEE-Tx® platform is a rapid and cost-effective drug discovery tool for identifying STARs for the treatment of LSDs. In addition, the HaloTag assay developed in our lab has proved valuable in investigating the effect of STARs in promoting enzyme transport and lysosomal delivery. Automatization and upscaling of this assay would be beneficial for screening STARs as part of the drug discovery process.


Assuntos
Gangliosidose GM1 , Doenças por Armazenamento dos Lisossomos , Animais , Cães , Gangliosidose GM1/tratamento farmacológico , Gangliosidose GM1/genética , Gangliosidose GM1/metabolismo , 1-Desoxinojirimicina/farmacologia , beta-Galactosidase/metabolismo
10.
Microbiology (Reading) ; 169(10)2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37819040

RESUMO

Pseudomonas aeruginosa is a widespread γ-proteobacterium and an important opportunistic pathogen. The genetically diverse P. aeruginosa phylogroup 3 strains are characterized by producing the pore-forming ExlA toxin and by their lack of a type III secretion system. However, like all strains of this species, they produce several virulence-associated traits, such as elastase, rhamnolipids and pyocyanin, which are regulated by quorum sensing (QS). The P. aeruginosa QS response comprises three systems (Las, Rhl and Pqs, respectively) that hierarchically regulate these virulence factors. The Pqs QS system is composed of the PqsR transcriptional factor, which, coupled with the alkyl-quinolones HHQ or PQS, activates the transcription of the pqsABCDE operon. The products of the first four genes of this operon produce HHQ, which is then converted to PQS by PqsH, while PqsE forms a complex with RhlR and stabilizes it. In this study we report that mutations affecting the Pqs system are particularly common in phylogroup 3 strains. To better understand QS in phylogroup 3 strains we studied strain MAZ105 isolated from tomato rhizosphere and showed that it contains mutations in the central QS transcriptional regulator, LasR, and in the gene encoding the PqsA enzyme involved in the synthesis of PQS. However, it can still produce QS-regulated virulence factors and is virulent in Galleria mellonella and mildly pathogenic in the mouse abscess/necrosis model; our results show that this may be due to the expression of pqsE from a different PqsR-independent promoter than the pqsA promoter. Our results indicate that using anti-virulence therapy based on targeting the PQS system will not be effective against infections by P. aeruginosa phylogroup 3 strains.


Assuntos
Percepção de Quorum , Solanum lycopersicum , Animais , Camundongos , Percepção de Quorum/genética , Pseudomonas aeruginosa/metabolismo , Rizosfera , Transdução de Sinais/genética , Fatores de Virulência/genética , Fatores de Virulência/metabolismo , Proteínas de Bactérias/genética , Proteínas de Bactérias/metabolismo , Regulação Bacteriana da Expressão Gênica
13.
Ann Surg Oncol ; 30(12): 7653-7662, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37633852

RESUMO

BACKGROUND: Sentinel lymph node (SLN) biopsy has recently been accepted to evaluate nodal status in endometrial cancer at early stage, which is key to tailoring adjuvant treatments. Our aim was to evaluate the national implementation of SLN biopsy in terms of accuracy to detect nodal disease in a clinical setting and oncologic outcomes according to the volume of nodal disease. PATIENTS AND METHODS: A total of 29 Spanish centers participated in this retrospective, multicenter registry including patients with endometrial adenocarcinoma at preoperative early stage who had undergone SLN biopsy between 2015 and 2021. Each center collected data regarding demographic, clinical, histologic, therapeutic, and survival characteristics. RESULTS: A total of 892 patients were enrolled. After the surgery, 12.9% were suprastaged to FIGO 2009 stages III-IV and 108 patients (12.1%) had nodal involvement: 54.6% macrometastasis, 22.2% micrometastases, and 23.1% isolated tumor cells (ITC). Sensitivity of SLN biopsy was 93.7% and false negative rate was 6.2%. After a median follow up of 1.81 years, overall surivial and disease-free survival were significantly lower in patients who had macrometastases when compared with patients with negative nodes, micrometastases or ITC. CONCLUSIONS: In our nationwide cohort we obtained high sensitivity of SLN biopsy to detect nodal disease. The oncologic outcomes of patients with negative nodes and low-volume disease were similar after tailoring adjuvant treatments. In total, 22% of patients with macrometastasis and 50% of patients with micrometastasis were at low risk of nodal metastasis according to their preoperative risk factors, revealing the importance of SLN biopsy in the surgical management of patients with early stage EC.


Assuntos
Neoplasias do Endométrio , Linfonodo Sentinela , Feminino , Humanos , Biópsia de Linfonodo Sentinela , Linfonodos/patologia , Micrometástase de Neoplasia/patologia , Estudos Retrospectivos , Estadiamento de Neoplasias , Neoplasias do Endométrio/cirurgia , Neoplasias do Endométrio/patologia , Linfonodo Sentinela/cirurgia , Linfonodo Sentinela/patologia , Excisão de Linfonodo
14.
J Trace Elem Med Biol ; 77: 127143, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36871433

RESUMO

BACKGROUND: This work studies the presence of the Ti, Al and V metal ions and Ti nanoparticles released from the debris produced by the implantoplasty, a surgical procedure used in the clinic, in rat organs. METHODS: The sample preparation for total Ti determination was carefully optimized using microsampling inserts to minimize the dilution during the acid attack of the lyophilized tissues by a microwave-assisted acid digestion method. An enzymatic digestion method was optimized and applied to the different tissue samples in order to extract the titanium nanoparticles for the single-particle ICP-MS analysis. RESULTS: A statistically significant increase was found for Ti concentrations from control to experimental groups for several of the studied tissues, being and particularly significant in the case of brain and spleen. Al and V concentrations were detected in all tissues but they were not different when comparing control and experimental animals, except for V in brain. The possible presence of Ti-containing nanoparticles mobilized from the implantoplasty debris was tested using enzymatic digestions and SP-ICP-MS. The presence of Ti-containing nanoparticles was observed in all the analyzed tissues, however, differences on the Ti mass per particle were found between the blanks and the digested tissue and between control and experimental animals in some organs. CONCLUSION: The developed methodologies, both for ionic and nanoparticulated metal contents in rat organs, have shown the possible increase in the levels of Ti both as ions and nanoparticles in rats subjected to implantoplasty.


Assuntos
Implantes Dentários , Nanopartículas Metálicas , Ratos , Animais , Titânio/análise , Espectrometria de Massas/métodos , Metais , Íons
15.
Anim Microbiome ; 4(1): 63, 2022 Dec 12.
Artigo em Inglês | MEDLINE | ID: mdl-36503640

RESUMO

BACKGROUND: Microbiomes have been increasingly recognized as major contributors to host health and survival. In amphibians, bacterial members of the skin microbiota protect their hosts by inhibiting the growth of the fungal pathogen Batrachochytrium dendrobatidis (Bd). Even though several studies describe the influence of biotic and abiotic factors over the skin microbiota, it remains unclear how these symbiotic bacterial communities vary across time and development. This is particularly relevant for species that undergo metamorphosis as it has been shown that host physiology and ecology drastically influence diversity of the skin microbiome. RESULTS: We found that the skin bacterial communities of the axolotl A. altamirani are largely influenced by the metamorphic status of the host and by seasonal variation of abiotic factors such as temperature, pH, dissolved oxygen and conductivity. Despite high Bd prevalence in these samples, the bacterial diversity of the skin microbiota did not differ between infected and non-infected axolotls, although relative abundance of particular bacteria were correlated with Bd infection intensity. CONCLUSIONS: Our work shows that metamorphosis is a crucial process that shapes skin bacterial communities and that axolotls under different developmental stages respond differently to environmental seasonal variations. Moreover, this study greatly contributes to a better understanding of the factors that shape amphibian skin microbiota, especially in a largely underexplored group like axolotls (Mexican Ambystoma species).

16.
Arch. pediatr. Urug ; 93(2): e310, dic. 2022. ilus
Artigo em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1383656

RESUMO

Introducción: el síndrome del incisivo central maxilar medio único (SMMCI) es un trastorno de etiología desconocida, con base genética heterogénea, que se caracteriza por la erupción de un único incisivo central en el maxilar y que se puede relacionar con multitud de patologías y síndromes, entre los que destacan las alteraciones de la línea media, obstrucción nasal congénita, disfunción hipofisaria, talla baja y holoprosencefalia. Caso clínico: neonato mujer con síndrome dismórfico no filiado y obstrucción nasal congénita, que es diagnosticada de SMMCI tras consultar en repetidas ocasiones por cuadros de dificultad respiratoria y problemas para alimentarse. Conclusiones: el conocimiento de este raro síndrome es fundamental para la realización de un diagnóstico precoz por parte del equipo pediátrico y obstétrico, ya que un diagnóstico temprano es posible, mejorando la evaluación prenatal ecográfica, así como el adecuado manejo posnatal multidisciplinar posterior de nuestros pacientes.


Introduction: the Solitary Median Maxillary Central Incisor Syndrome (SMMCI) is a disorder of unknown etiology, with a heterogeneous genetic basis, characterized by the eruption of a single central incisor in the maxilla and that can be linked to various pathologies and syndromes, among which the alterations of the midline, congenital nasal obstruction, pituitary dysfunction, short stature and holoprosencephaly stand out. Clinical case: female newborns with unknown dysmorphic syndrome and congenital nasal obstruction, diagnosed with SMMCI after repeated consultations due to respiratory distress and feeding problems. Conclusions: understanding this rare syndrome is essential for an early diagnosis to be carried out by the pediatric and obstetric team, since it will improve the ultrasound prenatal assessment, as well as the adequate subsequent multidisciplinary postnatal patient management procedures.


Introdução: a síndrome do incisivo central maxilar médio solitário (SICMMS) é uma desordem de etiologia desconhecida, com base genética heterogênea, caracterizada pela erupção de um único incisivo central na maxila e que pode estar relacionada a uma infinidade de patologias e síndromes. onde se destacam alterações da linha média, obstrução nasal congênita, disfunção hipofisária, baixa estatura e holoprosencefalia. Caso clínico: recém-nascida com síndrome dismórfica de origem desconhecida e obstrução nasal congênita, diagnosticada com SICMSS após várias consultas por desconforto respiratório e problemas de alimentação. Conclusões: o conhecimento desta rara síndrome é essencial para que a equipe pediátrica e obstétrica possa fazer um diagnóstico precoce, pois ele pode melhorar a avaliação ultrassonográfica pré-natal, bem como o adequado manejo pós-natal multidisciplinar pós-natal dos pacientes.


Assuntos
Humanos , Feminino , Recém-Nascido , Anormalidades Múltiplas/diagnóstico por imagem , Obstrução Nasal/diagnóstico por imagem , Constrição Patológica/diagnóstico por imagem , Síndrome , Anormalidades Múltiplas/patologia , Obstrução Nasal/cirurgia , Holoprosencefalia/diagnóstico por imagem , Incisivo/anormalidades , Anodontia/complicações
17.
J Infect Dev Ctries ; 16(7): 1221-1225, 2022 07 28.
Artigo em Inglês | MEDLINE | ID: mdl-35905028

RESUMO

INTRODUCTION: Tuberculosis (TB) is an infectious, transmissible and immune disease caused by the Mycobacterium tuberculosis-complex (MTBC). Although osteoarticular tuberculosis (OATB) has been widely described, the ribcage variety remains a rare form. CASE REPORT: A thirteen-month-old male and a twenty-month-old female, both with pain and increased volume of anterolateral left rib cage were described. Physical examination revealed the presence of a soft consistent mass at the level of the 9th and 5th costal arches in the male and female patients respectively. Upon clinical evaluation, tuberculosis was suspected, which was confirmed by X-ray and histopathological studies. After confirmation, the management, based on anti-tuberculosis therapy was started as follows: nine months of anti-tuberculosis therapy for the male patient and fourteen months for the female. The outcomes were favorable for both patients. However, further interventions, consisting of abscess drainage in the male patient and excisional biopsy in the female patient were necessary. With these therapeutic interventions, to date, the patients are without any evidence of active TB.


Assuntos
Mycobacterium tuberculosis , Tuberculose , Antituberculosos/uso terapêutico , Drenagem , Feminino , Humanos , Lactente , Masculino , Caixa Torácica , Tuberculose/tratamento farmacológico
19.
Arch. cardiol. Méx ; Arch. cardiol. Méx;91(3): 355-360, jul.-sep. 2021. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1345175

RESUMO

Resumen El objetivo es mostrar el diagnóstico y la evolución de una paciente con estenosis de venas pulmonares y secuestro pulmonar. Se trata de una niña de 1 año de edad, con bronconeumonías de repetición, acrocianosis, 2R intenso, cardiomegalia, hipertensión venocapilar pulmonar, con diagnóstico clínico de comunicación interauricular. El ecocardiograma mostró estenosis de venas pulmonares izquierdas. El cateterismo cardiaco detectó fístulas arteriovenosas en la región apical del pulmón derecho. La imagen de resonancia magnética y la angiografía mostraron un vaso arterial aberrante paralelo a la aorta abdominal y con flujo dirigido al lóbulo pulmonar derecho. La angiotomografía reportó confluencia de las venas pulmonares del lado derecho. Se realizó lobectomía derecha. La paciente falleció en el posoperatorio debido a una hemorragia masiva pulmonar. Esta paciente es la primera descrita en la literatura con estenosis de venas pulmonares congénita asociada a secuestro pulmonar. La ecocardiografía es el estudio diagnóstico ideal inicial en los pacientes con estenosis congénita de venas pulmonares.


Abstract The objective is demonstrate the diagnostic process and evolution of a patient with a diagnosis of congenital pulmonary vein stenosis and broncho-pulmonary vascular malformation. One year old female patient with repeated bronchopneumonia, acrocyanosis, split S2, cardiomegaly, pulmonary hypertension, with a clinical diagnosis of atrial septal defect. The echocardiogram demonstrated left sided vein pulmonary stenosis. The cardiac catheterization demonstrated arterial-venous fistulas apical on the right lung. Magnetic Resonance image and angiography showed an aberrant arterial vessel parallel to the abdominal aorta which flow the right pulmonary lobe. The cardiac tomography angiography reported confluence of right-sided pulmonary veins. A lobectomy is performed. Patient died in post-operative due to massive pulmonary hemorrhaging. This is the first patient mentioned in written literature with pulmonary vein stenosis associated with pulmonary sequestration, with normal venous connection. Echocardiography represents the specific standard study ideal for initial diagnostic for patients with pulmonary vein stenosis.

20.
Microbiology (Reading) ; 167(8)2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34424157

RESUMO

Pseudomonas aeruginosa is a wide-spread γ-proteobacterium that produces the biosurfactant rhamnolipid that has a great commercial value due to excellent properties of low toxicity and high biodegradability. However, this bacterium is an opportunist pathogen that constitutes an important health hazard due to its production of virulence-associated traits and its high antibiotic resistance. Thus, it is highly desirable to have a non-virulent P. aeruginosa strain for rhamnolipid production. It has been reported that strain ATCC 9027 is avirulent in mouse models of infection, and it is still able to produce rhamnolipid. Thus, it has been proposed to be suitable for it industrial production, since it encodes a defective LasR quorum sensing (QS) transcriptional regulator that is the head of this regulatory network. However, the restoration of virulence factor production by overexpression of rhlR (the gene encoding a QS-transcriptional regulator which is under the transcriptional control of LasR) is not sufficient to restore its virulence in mice. It is desirable to obtain a deeper understanding of ATCC 9027 attenuated-virulence phenotype and to assess the safety of this strain to be used at an industrial scale. In this work we determined whether increasing the expression of the pore-forming toxin encoded by the exlBA operon in strain ATCC 9027 had an impact on its virulence using Galleria mellonella and mouse models of infections. We increased the expression of the exlBA operon by overexpressing from a plasmid its transcriptional activator Vfr or of the Vfr ligand cyclic AMP produced by CyaB. We found that in G. mellonella ATCC 9027/pUCP24-vfr and ATCC 9027/pUCP24-cyaB gained a virulent phenotype, but these strains remained avirulent in murine models of P. aeruginosa infection. These results reinforce the possibility of using ATCC 9027 for industrial biosurfactants production.


Assuntos
Proteínas de Bactérias , Pseudomonas aeruginosa , Animais , Proteínas de Bactérias/genética , Camundongos , Óperon , Pseudomonas aeruginosa/genética , Percepção de Quorum , Virulência/genética , Fatores de Virulência/genética
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