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1.
Artigo em Inglês | MEDLINE | ID: mdl-38498231

RESUMO

Childhood callous-unemotional (CU) traits are characterized by low empathy, limited prosocial behavior, and restricted social affiliation. However, few studies have investigated whether CU traits are associated with different subtypes of prosocial and affiliative behavior or the specific motivational difficulties underlying these behaviors. We addressed these questions using data from 135 young children (M = 5.48 years old; 58% female) who viewed depictions of adults or children in instrumental need, emotional need, or neutral situations. We assessed recognition, suggested initiation of, and motivation for prosocial or affiliative behavior in response to each depiction. We distinguished between subtypes of prosocial (instrumental and emotional) and affiliative (parallel, cooperative, associative) behavior, as well as self- versus other-orientated motivations. Parents reported on child CU traits and conduct problems. Overall, children accurately recognized prosocial and neutral situations, offered help, and expressed other-orientated motivations for prosocial behavior and social motivations for affiliative behavior. Higher CU traits were related to lower overall recognition accuracy, which was more pronounced for emotional need. Higher CU traits were also related to fewer offers of help and more denial of prosocial behavior, particularly for instrumental need. Finally, CU traits were related to lower probability of initiating affiliative behavior. CU traits were not differentially related to self- versus other-orientated motivations for prosocial or affiliative behavior. Findings demonstrate difficulties of children with CU traits in recognizing need and offering help. Interventions for CU traits could include modules that explicitly scaffold and shape prosociality and social affiliation.

2.
J Appl Microbiol ; 134(11)2023 Nov 01.
Artigo em Inglês | MEDLINE | ID: mdl-37974051

RESUMO

AIMS: This study aimed to examine antibiotic resistance and the epidemiology of extended-spectrum ß-lactamases (ESBL)-producing Escherichia coli associated with bloodstream infections over a period of 10 years. METHODS AND RESULTS: Isolates were collected from January 2009 to December 2019 and those testing for E. coli were included. Antibiotic susceptibility was tested using the VITEK® system. Selected isolates were further characterized by amplification of marker genes (virulence traits, phylogroups, and sequence types). A total of 166 ESBL-producing E. coli were recovered. The blaCTX-M-15 allele was the most abundant. Most of the isolates were resistant to ceftriaxone, cefepime, ceftazidime, ampicillin/sulbactam, piperacillin/tazobactam, and ciprofloxacin. No resistance to carbapenems was registered. More than 80% of bacteria were classified as extraintestinal pathogenic E. coli (ExPEC), and the combination of virulence traits:papA-papC-kpsMII-uitA was the most common. Phylogroup B2 was the most prevalent, and bacteria predominantly belonged to ST131. CONCLUSIONS: There was an increase in the ExPEC ESBL-E coli in bloodstream infections and the relationship between the isolates found in these infections during these 10 years.


Assuntos
Infecções por Escherichia coli , Escherichia coli Extraintestinal Patogênica , Sepse , Humanos , Escherichia coli , Infecções por Escherichia coli/epidemiologia , Infecções por Escherichia coli/microbiologia , Equador/epidemiologia , beta-Lactamases/genética , Sepse/microbiologia , Antibacterianos/farmacologia
3.
Cambios rev. méd ; 22 (2), 2023;22(2): 919, 16 octubre 2023. ilus, tabs
Artigo em Espanhol | LILACS | ID: biblio-1516520

RESUMO

El envejecimiento y la longevidad son procesos que involucran una serie de factores genéticos, bioquímicos y ambientales. En esta revisión se tratan algunas cuestiones sobre estos dos procesos biológicos y epigenéticos. Se presentan los genes más importantes en estos procesos, así como se ejemplifican enfermedades que presentan un aceleramiento o falla en la longevidad y el envejecimiento. Se usa el análisis inteligente de datos para hallar interacciones de proteínas/genes que expliquen estos dos fenómenos biológicos.


Aging and longevity are processes that involve a series of genetic, biochemical and environmental factors. This review addresses some issues about these two biological and epigenetic processes. The most important genes in these processes are presented, as well as diseases that present an acceleration or failure in longevity and aging. Intelligent data analysis is used to find protein/gene interactions that explain these two biological phenomena.


Assuntos
Humanos , Masculino , Feminino , Idoso , Idoso de 80 Anos ou mais , Fenômenos Biológicos , Envelhecimento , Senescência Celular , Genes , Genética , Longevidade , Qualidade de Vida , Expectativa de Vida , Apoptose , Estresse Oxidativo , Telomerase , Senilidade Prematura , Equador , Sistema Imunitário , Metabolismo
4.
Microb Drug Resist ; 29(11): 533-539, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37733248

RESUMO

In recent years, increasing resistance of Bacteroides fragilis to several antibiotics has been reported in different countries. The aim of this study was to evaluate the antibiotic resistance profiles of Bacteroides spp. isolated from clinical samples by phenotypic and molecular methods. A total of 40 nonrepetitive isolates of the B. fragilis group were studied from 2018 to 2019. The species was identified by API 20A system. The minimum inhibitory concentrations (MICs) were determined by Sensititre anaerobe MIC plate. The presence of the nim and cfiA genes was checked by conventional PCR. The association between genes and insertion sequence (IS) was performed by whole genome sequencing. Eleven isolates were categorized as metronidazole-resistant and only 2 isolates harbored the nim gene. Five isolates were imipenem-resistant, but cfiA gene was detected in two isolates. cfiA gene was closely related to the cfiA-4 allele and associated with IS614B. The nim gene was not related to any nim gene type and was considered a new variant named nimL. IS612 was found upstream of nimL gene. In view of the scarcity of data on B. fragilis, there is a need to surveil antibiotic resistance levels and molecular mechanisms to implement better antimicrobial therapies against this important group of bacteria.


Assuntos
Antibacterianos , Infecções por Bacteroides , Humanos , Antibacterianos/farmacologia , Bacteroides , Bacteroides fragilis/genética , Equador , beta-Lactamases/genética , Infecções por Bacteroides/tratamento farmacológico , Infecções por Bacteroides/microbiologia , Testes de Sensibilidade Microbiana , Farmacorresistência Bacteriana/genética , Proteínas de Bactérias/genética
5.
Ultrasound Obstet Gynecol ; 62(3): 450-451, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37647043
6.
AACE Clin Case Rep ; 9(4): 136-139, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37520756

RESUMO

Background/Objective: Sodium-glucose cotransporter-2 (SGLT2) inhibitors are part of the treatment for hyperglycemia in patients with diabetes. These drugs have shown important benefits including cardiovascular and renal protection among people with diabetes. Case Report: We report a case of a 60-year-old woman with diabetes who presented to the emergency department complaining of left flank pain radiating to the groin. The patient was on multiple antidiabetic medications, including a recently added empagliflozin, considering the difficulty in controlling hyperglycemia. She quickly developed severe sepsis with shock, and imaging studies of the abdomen revealed the presence of encapsulated gas in the left kidney compatible with emphysematous pyelonephritis (EPN). There was no presence of nephrolithiasis or other anatomical or structural abnormality that could have precipitated this focal renal infection.Besides antimicrobials, fluid resuscitation, and vasopressor agents, an emergent surgical nephrectomy, as well as intensive care, was required until the patient fully recovered. Escherichia coli was isolated from the initial blood cultures, and ceftriaxone was administered. The patient was subsequently discharged home in stable condition. Two months later, the patient was readmitted with near-syncope and abdominal pain, which was found to be related to small bowel obstruction. The patient decompensated rapidly and had a cardiac arrest even before surgical evaluation. She was resuscitated and admitted to the intensive care unit but showed no signs of neurologic recovery after the anoxic event. She did not survive this hospitalization. Discussion: The exposure of SGLT2 inhibitors in this patient seemed to have been the precipitating factor for development of complicated pyelonephritis with gas gangrene. EPN is a consequence of a severe renal parenchymal infection, which carries high mortality even with prompt treatment. Conclusion: Use of SGLT2 inhibitors has expanded worldwide as there are clear clinical benefits, but we need to recognize their uncommon yet potentially fatal complications, such as EPN.

7.
FEMS Microbiol Lett ; 3702023 01 17.
Artigo em Inglês | MEDLINE | ID: mdl-37279906

RESUMO

Actinobacillus seminis is the causal agent of epididymitis and has other effects on the reproductive tracts of small ruminants and bovines. This bacterium causes infection when luteinizing (LH) or follicle-stimulating hormones increase, and hosts reach sexual maturity. LH induces female ovulation and male testosterone production, suggesting that these hormones affect A. seminis pathogenicity. In the present study, we evaluated the effect of testosterone (1-5 ng/ml) or estradiol (5-25 pg/ml) added to culture medium on the in vitro growth, biofilm production, and adhesin expression of A. seminis. Estradiol does not promote the growth of this bacterium, whereas testosterone increased A. seminis planktonic growth 2-fold. Both hormones induced the expression of the elongation factor thermo unstable (EF-Tu) and phosphoglycerate mutase (PGM), proteins that A. seminis uses as adhesins. Estradiol (5 or 10 pg/ml) decreased biofilm formation by 32%, whereas testosterone, even at 5 ng/ml, showed no effect. Both hormones modified the concentrations of carbohydrates and eDNA in biofilms by 50%. Amyloid proteins are characterized by their capacity to bind Congo red (CR) dye. Actinobacillus seminis binds CR dye, and this binding increases in the presence of 5-20 pg/ml estradiol or 4 ng/ml testosterone. The A. seminis EF-Tu protein was identified as amyloid-like protein (ALP). The effect of sexual hormones on the growth and expression of virulence factors of A. seminis seems to be relevant for its colonization and permanence in the host.


Assuntos
Infecções por Actinobacillus , Actinobacillus seminis , Feminino , Masculino , Animais , Bovinos , Actinobacillus seminis/genética , Estradiol/farmacologia , Infecções por Actinobacillus/microbiologia , Testosterona/farmacologia , Fator Tu de Elongação de Peptídeos , Adesinas Bacterianas/genética , Biofilmes
8.
Ultrasound Obstet Gynecol ; 62(3): 361-368, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36840980

RESUMO

OBJECTIVE: To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non-malformed infants born at term with severely low birth weight and no evidence of placental insufficiency. METHODS: This case series was constructed from the data of infants delivered at term between 2013 and 2018 with severely low birth weight, defined as birth weight more than 2.5 SD below the mean, with normal maternal and fetal Doppler (umbilical artery, fetal middle cerebral artery, cerebroplacental ratio and uterine artery) and no maternal hypertensive disorder during pregnancy or fetal structural anomaly on prenatal ultrasound examination. Clinical exome sequencing and copy number variation (CNV) analysis were performed using DNA extracted from the children's saliva. Cognitive and psychomotor development was evaluated using the Bayley Scales of Infant and Toddler Development, 3rd edition or the Wechsler Intelligence Scale for Children, 5th edition tests, according to the child's age at testing. RESULTS: Among the 36 405 infants born within the study period, 274 (0.75%) had a birth weight below -2.5 SD, of whom 98 met the inclusion criteria. Among the 63 families contacted, seven (11%) reported a postnatal diagnosis of a genetic syndrome and a further 18 consented to participate in the study. Median gestational age at delivery was 38.0 (interquartile range (IQR), 37.3-38.5) weeks and median birth weight was 2020 (IQR, 1908-2248) g. All 18 children showed a normal result on clinical exome sequencing and CNV analysis, but six (33%) obtained a low score on neurodevelopmental testing. CONCLUSION: Non-malformed severely small term infants with no clinical or Doppler signs of placental insufficiency present a high rate of genetic syndromes and neurodevelopmental impairment during childhood. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Insuficiência Placentária , Gravidez , Recém-Nascido , Feminino , Lactente , Humanos , Peso ao Nascer/genética , Insuficiência Placentária/diagnóstico por imagem , Insuficiência Placentária/genética , Recém-Nascido Pequeno para a Idade Gestacional , Retardo do Crescimento Fetal/diagnóstico por imagem , Retardo do Crescimento Fetal/genética , Variações do Número de Cópias de DNA , Síndrome , Idade Gestacional
9.
J Clin Med ; 13(1)2023 Dec 28.
Artigo em Inglês | MEDLINE | ID: mdl-38202188

RESUMO

OBJECTIVES: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. METHODS: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May-September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders. Virtual gene panels were selected to target genes related to ultrasound findings and bioinformatic analysis was performed, prioritizing variants based on the corresponding HPO terms. The broad Fetal Gene panel for developmental disorders developed by the PAGE group was also included in the analysis. RESULTS: A total of 59 out of 61 women consented to participate in this study. There were 36 isolated major fetal anomalies, 11 aneuploidy markers, 6 minor fetal anomalies, 4 multiple anomalies, and 2 other ultrasound signs. Following QF-PCR analysis, two uncultured samples were excluded from this study, and six (10%) common chromosome aneuploidies were detected. In the remaining 51 cases, no pathogenic CNVs were detected at CMA, nor were any pathogenic variants observed in gene panels only targeting the ultrasound indications. Two (3.9%) monogenic diseases, apparently unrelated to the fetal phenotype, were detected: blepharo-cheilo-odontic syndrome (spina bifida) and Duchenne muscular dystrophy (pyelocaliceal dilation). CONCLUSIONS: In our series of pregnancies with ultrasound findings, common aneuploidies were the only chromosomal abnormalities present, which were detected in 10% of cases. ES CNV analysis was concordant with CMA results in all cases. No additional findings were provided by only targeting selected genes based on ultrasound findings. Broadening the analysis to a larger number of genes involved in fetal developmental disorders revealed monogenic diseases in 3.9% of cases, which, although apparently not directly related to the indications, were clinically relevant.

10.
Rev. cuba. reumatol ; 24(4)dic. 2022.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1530177

RESUMO

El lupus eritematoso sistémico es una enfermedad inflamatoria sistémica cuyo proceso inflamatorio genera un importante número de manifestaciones clínicas articulares y extraarticulares. Entre las manifestaciones extraarticulares destaca la afectación neurológica, y el compromiso puede ser tanto a nivel del sistema nervioso central o periférico. El objetivo de la presente investigación es presentar el caso de una paciente de 56 años de edad, con diagnóstico de lupus eritematoso sistémico de 18 años de evolución quien presentó un cuadro crónico de cefalea, neuropatía periférica y miastenia gravis como manifestaciones neurológicas de la enfermedad. Con el tratamiento de ciclofosfamida y el aumento de la dosis de esteroide, en la actualidad la paciente se encuentra estable. El reporte de este caso hace hincapié en la importancia que revisten las manifestaciones neurológicas como parte de las manifestaciones extraarticulares de esta enfermedad, ya que este tipo de afección es determinante en el curso del lupus eritematoso sistémico y en la calidad de vida de los pacientes(AU)


Systemic lupus erythematosus is a systemic inflammatory disease whose inflammatory process generates a significant number of articular and extra-articular clinical manifestations. Within the extra-articular manifestations, neurological involvement stands out, among others, the commitment can be both at the level of the central or peripheral nervous system. The objective of the present investigation is to present the case of a 56-year-old patient, diagnosed with systemic lupus erythematosus of 18 years of evolution and who has presented chronic symptoms of headache, peripheral neuropathy and myasthenia gravis as neurological manifestations of the illness. The report of this case is considered important to publicize the importance of neurological manifestations as part of the extra-articular manifestations of this disease; this type of condition is decisive in the course of the disease and in the quality of life of patients(AU)


Assuntos
Humanos , Masculino , Feminino , Doenças Reumáticas/epidemiologia , Cefaleia , Lúpus Eritematoso Sistêmico/epidemiologia , Miastenia Gravis , Manifestações Neurológicas
11.
Rev. cuba. reumatol ; 24(4)dic. 2022.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1530176

RESUMO

Dentro del grupo de enfermedades reumáticas la esclerodermia es una de las de menor frecuencia de presentación, por lo que muchos autores la consideran una enfermedad rara. Aunque afecta predominantemente a pacientes adultos, en ocasiones se presenta en edades pediátricas y sus formas localizadas son las manifestaciones más frecuentes a estas edades. El objetivo del presente reporte es presentar el caso de una escolar de 10 años de edad, con un cuadro de lesión en la piel de 3 años de evolución a la cual se le diagnostica, mediante las características clínicas y los resultados de estudios anatomopatológicos una esclerodermia localizada profunda. En la actualidad la paciente se mantiene en régimen de seguimiento multidisciplinario. Este reporte de caso es importante para compartir con la comunidad médica los elementos básicos relacionados con el diagnóstico y tratamiento de esta enfermedad, como alternativa a la reducción de las complicaciones que genera(AU)


Within the group of rheumatic diseases, scleroderma is one of those with the lowest frequency of presentation; being considered a rare disease by many authors. Although it has a predominance of affectation in adult patients, it sometimes occurs in pediatric ages, its localized forms being the most frequent forms of presentation. The objective of this report is to present the case of a 10-year-old schoolgirl, with a 3-year history of skin lesions, which was diagnosed, through clinical characteristics and results of pathological studies, as deep localized scleroderma. The case report is considered important to share with the medical community the basic elements related to the diagnosis and treatment of this disease, as an alternative to reducing the complications it generates(AU)


Assuntos
Humanos , Feminino , Criança , Esclerodermia Localizada/epidemiologia , Doenças Reumáticas/epidemiologia , Equador
12.
Rev. cuba. reumatol ; 24(3)sept. 2022.
Artigo em Espanhol | LILACS, CUMED | ID: biblio-1530163

RESUMO

La gota es una enfermedad reumática inflamatoria que se debe al depósito de cristales de urato monosódico en las articulaciones. En su evolución clínica se distingues dos formas: la fase aguda caracterizada por un proceso inflamatorio monoarticular agudo de gran sensibilidad, y la fase crónica o de mantenimiento, cuyo elemento fundamental es la acumulación de cristales de urato monosódico llamados tofos gotosos. Estos se presentan con mayor frecuencia en el dorso de los dedos, a nivel articular y en el pabellón auricular. Se presenta el caso de un paciente masculino, de 47 años, con diagnóstico de gota de 5 años de evolución y con tratamiento irregular. Este paciente presentó tofos gotosos en localizaciones infrecuentes que limitaron su capacidad funcional. Este caso demuestra la necesidad de un diagnóstico oportuno y una adecuada adherencia al tratamiento, por lo que se considera importante para la comunidad médica, especialmente los profesionales de la salud que atienden a pacientes con artropatía gotosa(AU)´


Gout is a rheumatic, inflammatory disease that is generated by the deposition of monosodium urate crystals at the joint level. Two forms can be distinguished in its clinical evolution: the acute phase characterized by an acute monoarticular inflammatory process of great sensitivity, and the chronic or maintenance phase where the fundamental element is the presence of accumulations of monosodium urate crystals called gouty tophi. These occur more frequently on the back of the fingers, at the joint level and in the auricle. This paper presents the case of a 47-year-old male patient, diagnosed with gout for 5 years and with irregular treatment, who presented gouty tophi in infrequent locations that limit the patient's functional capacity. The case is presented considering it important for the medical community; especially health professionals caring for patients with gouty arthropathy(AU)´

14.
IDCases ; 28: e01494, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35433266

RESUMO

We report a case of catheter-related bloodstream infection by Tsukamurella inchonensis, identified using 16S rRNA gene sequencing, in a patient with arterial hypertension for 20 years and chronic kidney disease in hemodialysis since 08/07/2019. To our knowledge, this is the first case of T. inchonensis in Ecuador.

15.
Front Public Health ; 10: 844947, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35392477

RESUMO

Background: This study tests a framework that examines the role of several mental health factors (mood, wellbeing, health consciousness, and hoarding) on individuals' overconsumption behavior under the novel coronavirus context. This examination is relevant to public health literature because it increases our knowledge on how the context of COVID-19 pandemic affects people's mental health and provides answers to why individuals engage in overconsumption behavior. Additionally, this research also follows a cross-cultural perspective aiming to understand how individuals from different cultural orientations cope with the psychological effects of the COVID-19 pandemic. Methods: This is a cross-sectional study that compares samples from two countries: Ecuador (n = 334) and USA (n = 321). Data was collected via an online survey. The timing of data collection was set during the mandatory lockdowns and social distance measures taken by both countries to fight against the COVID-19 virus breakout. Partial least squares structural equation modeling was used to test the theorized framework. Multi-group analysis was used to explore cultural orientation differences among the relationships included in the model. Results: The results indicate that individuals' mood state has a positive relationship with health consciousness, as people try to regulate their health concerns by maintaining positive perceptions of their subjective wellbeing. Further, the increased concern individuals express in their health is responsible for them to engage in overconsumption behavior. Cultural orientation (individualism vs. collectivism) moderates the relationship between mood and health consciousness. No moderation effect was found for the relationship between health consciousness and overconsumption. Conclusions: The COVID-19 pandemic has generated negative effects in individuals' mental health. Findings from this study suggest that maintaining a positive mood is important for individuals at the time of mandatory lockdowns, and this effort is related to a greater concern and awareness of their health. Further, health consciousness is responsible to stimulate overconsumption behavior. This chain of effects can be explained by individuals' interest in their wellbeing. Culture plays a role in these effects. People from individualistic countries (USA) compared to people from collectivistic countries (Ecuador) demonstrate greater motivation in maintaining their positive mood by showing greater health consciousness.


Assuntos
COVID-19 , Pandemias , COVID-19/epidemiologia , Controle de Doenças Transmissíveis , Comparação Transcultural , Estudos Transversais , Equador/epidemiologia , Humanos , Saúde Mental , SARS-CoV-2
17.
J Appl Microbiol ; 132(4): 2694-2704, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34856035

RESUMO

AIMS: We described the presence of Helicobacter pylori (HP) and estimated the prevalence of primary and secondary resistance using molecular detection in gastric biopsies of Ecuadorian patients. METHODS AND RESULTS: 66.7% (238/357) of the patients demonstrated the presence of HP using CerTest qPCR. Of these, 69.79% (104/149) were without previous HP eradication treatment and 64.42% (134/208) with prior HP eradication treatment. The mutation-associated resistance rate for clarithromycin was 33.64% (primary resistance) and 32.82% (secondary resistance), whereas that in levofloxacin the primary and secondary resistance was 37.38% and 42%, respectively. For tetracycline and rifabutin, primary and secondary resistance was 0%. Primary and secondary resistance for metronidazole and amoxicillin could not be evaluated by genotypic methods (PCR and sequencing). CONCLUSIONS: The analysis of mutations in gyrA, 23S rRNA and 16S rRNA is useful to detect bacterial resistance as a guide for eradication therapy following failure of the first-line regimen. SIGNIFICANCE AND IMPACT OF THE STUDY: This study carried out in an Ecuadorian population indicates that the resistance of HP to first-line antibiotics is high, which may contribute to the high rates of treatment failure, and other treatment alternatives should be considered.


Assuntos
Infecções por Helicobacter , Helicobacter pylori , Amoxicilina/farmacologia , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Farmacorresistência Bacteriana/genética , Equador , Infecções por Helicobacter/tratamento farmacológico , Infecções por Helicobacter/epidemiologia , Infecções por Helicobacter/microbiologia , Helicobacter pylori/genética , Humanos , Metronidazol/farmacologia , Metronidazol/uso terapêutico , Testes de Sensibilidade Microbiana , Mutação , RNA Ribossômico 16S
18.
Fetal Diagn Ther ; 48(10): 746-756, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34775388

RESUMO

OBJECTIVE: The aim of the study was to assess the diagnostic yield of 2 different next-generation sequencing (NGS) approaches: gene panel and "solo" clinical exome sequencing (solo-CES), in fetuses with structural anomalies and normal chromosomal microarray analysis (CMA), in the absence of a known familial mutation. METHODOLOGY: Gene panels encompassing from 2 to 140 genes, were applied mainly in persistent nuchal fold/fetal hydrops and in large hyperechogenic kidneys. Solo-CES, which entails sequencing the fetus alone and only interpreting the Online Mendelian Inheritance in Man genes, was performed in multisystem or recurrent structural anomalies. RESULTS: During the study period (2015-2020), 153 NGS studies were performed in 148 structurally abnormal fetuses with a normal CMA. The overall diagnostic yield accounted for 35% (53/153) of samples and 36% (53/148) of the fetuses. Diagnostic yield with the gene panels was 31% (15/49), similar to 37% (38/104) in solo-CES. CONCLUSIONS: A monogenic disease was established as the underlying cause in 35% of selected fetal structural anomalies by gene panels and solo-CES.


Assuntos
Exoma , Ultrassonografia Pré-Natal , Feminino , Feto , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Gravidez , Primeiro Trimestre da Gravidez
19.
ACS Omega ; 6(43): 29009-29021, 2021 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-34746590

RESUMO

Earlier, various attempts to develop graphene structures using chemical and nonchemical routes were reported. Being efficient, scalable, and repeatable, 3D printing of graphene-based polymer inks and aerogels seems attractive; however, the produced structures highly rely on a binder or an ice support to stay intact. The presence of a binder or graphene oxide hinders the translation of the excellent graphene properties to the 3D structure. In this communication, we report our efforts to synthesize a 3D-shaped 3D graphene (3D2G) with good quality, desirable shape, and structure control by combining 3D printing with the atmospheric pressure chemical vapor deposition (CVD) process. Direct ink writing has been used in this work as a 3D-printing technique to print nickel powder-PLGA slurry into various shapes. The latter has been employed as a catalyst for graphene growth via CVD. Porous 3D2G with high purity was obtained after etching out the nickel substrate. The conducted micro CT and 2D Raman study of pristine 3D2G revealed important features of this new material. The interconnected porous nature of the obtained 3D2G combined with its good electrical conductivity (about 17 S/cm) and promising electrochemical properties invites applications for energy storage electrodes, where fast electron transfer and intimate contact with the active material and with the electrolyte are critically important. By changing the printing design, one can manipulate the electrical, electrochemical, and mechanical properties, including the structural porosity, without any requirement for additional doping or chemical postprocessing. The obtained binder-free 3D2G showed a very good thermal stability, tested by thermo-gravimetric analysis in air up to 500 °C. This work brings together two advanced manufacturing approaches, CVD and 3D printing, thus enabling the synthesis of high-quality, binder-free 3D2G structures with a tailored design that appeared to be suitable for multiple applications.

20.
J Wildl Dis ; 57(4): 749-760, 2021 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-34525187

RESUMO

Batrachochytrium dendrobatidis (Bd) infection is one of the principal causes of amphibian declines worldwide. The presence of Bd has been determined in Gastrotheca riobambae tadpoles that inhabit ponds in Quito's Metropolitan Guangüiltagua Park, Ecuador. This study sought to determine whether these tadpoles are infected and to determine the presence of chytridiomycosis in another frog species, Pristimantis unistrigatus, which also inhabits the park and has different reproductive biology and distinct behavioral habits. We used end-point and real-time PCR techniques to detect and quantify Bd infection. At 1 yr, samples were taken from the skin of P. unistrigatus using swabs and were also taken from the mouthparts of G. riobambae tadpoles. It was found that the two species were infected with a Bd prevalence of 39% (53/135) in G. riobambae tadpoles and 15% (57/382) in P. unistrigatus frogs. The two types of samples (tissue and swabs) from mouthparts showed differences in the zoospores per microliter loads (x̄=1,376.7±3,450.2 vs. x̄=285.0±652.3). Moreover, a correlation (r2=0.621) was discovered between the monthly mean maximum temperature of the pond with disease prevalence in G. riobambae tadpoles. Infection levels in the P. unistrigatus population varied significantly over time, and distance to the pond was a determinant factor for infection intensity.


Assuntos
Quitridiomicetos , Micoses , Animais , Anuros , Batrachochytrium , Equador/epidemiologia , Micoses/epidemiologia , Micoses/veterinária
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