RESUMO
STUDY QUESTION: How do transcriptomics vary in haploid human androgenote embryos at single cell level in the first four cell cycles of embryo development? SUMMARY ANSWER: Gene expression peaks at the fourth cell cycle, however some androcytes exhibit unique transcriptional behaviors. WHAT IS KNOWN ALREADY: The developmental potential of an embryo is determined by the competence of the oocyte and the sperm. However, studies of the contribution of the paternal genome using pure haploid androgenotes are very scarce. STUDY DESIGN, SIZE, DURATION: This study was performed analyzing the single-cell transcriptomic sequencing of 38 androcytes obtained from 10 androgenote bioconstructs previously produced in vitro (de Castro et al., 2023). These results were analyzed through different bioinformatics software such as g: Profiler, GSEA, Cytoscape, and Reactome. PARTICIPANTS/MATERIALS, SETTING, METHODS: Single cell sequencing was used to obtain the transcriptomic profiles of the different androcytes. The results obtained were compared between the different cycles studied using the DESeq2 program and functional enrichment pathways using g: Profiler, Cytoscape, and Reactome. MAIN RESULTS AND THE ROLE OF CHANCE: A wave of paternally driven transcriptomic activation was found during the third-cell cycle, with 1128 upregulated and 225 downregulated genes and the fourth-cell cycle, with 1373 upregulated and 286 downregulated genes, compared to first-cell cycle androcytes. Differentially expressed routes related to cell differentiation, DNA-binding transcription, RNA biosynthesis and RNA polymerase II transcription regulatory complex, and cell death were found in the third and fourth with respect to the first-cell cycle. Conversely, in the fourth cell cycle, 153 downregulated and 332 upregulated genes were found compared with third cell cycle, associated with differentially expressed processes related to E-box binding and zinc finger protein 652 (ZNF652) transcription factor. Further, significant overexpression of LEUTX, PRAMEF1, DUXA, RFPL4A, TRIM43, and ZNF675 found in androgenotes, compared to biparental embryos, highlights the paternal contributions to zygote genome activation. LARGE SCALE DATA: All raw sequencing data are available through the Gene Expression Omnibus (GEO) under accessions number: GSE216501. LIMITATIONS, REASONS FOR CAUTION: Extrapolation of biological events from uniparental constructs to biparental embryos should be done with caution. Maternal and paternal genomes do not act independently of each other in a natural condition. The absence of one genome may affect gene transcription of the other. In this sense, the haploid condition of the bioconstructs could mask the transcriptomic patterns of the single cells. WIDER IMPLICATIONS OF THE FINDINGS: The results obtained demonstrated the level of involvement of the human paternal haploid genome in the early stages of embryo development as well as its evolution at the transcriptomic level, laying the groundwork for the use of these bioconstructs as reliable models to dispel doubts about the genetic role played by the paternal genome in the early cycles of embryo development. STUDY FUNDING/COMPETING INTEREST(S): This study was funded by Instituto de Salud Carlos III (ISCIII) through the project 'PI22/00924', co-funded by European Regional Development Fund (ERDF); 'A way to make Europe'. F.D. was supported by the Spanish Ministry of Economy and Competitiveness through the Miguel Servet program (CPII018/00002). M.J.E. was supported by Instituto de Salud Carlos III (PI19/00577 [M.J.E.]) and FI20/00086. P.dC. was supported by a predoctoral grant for training in research into health (PFIS PI19/00577) from the Instituto de Salud Carlos III. All authors declare having no conflict of interest with regard to this trial.
Assuntos
Desenvolvimento Embrionário , Regulação da Expressão Gênica no Desenvolvimento , Análise de Célula Única , Humanos , Desenvolvimento Embrionário/genética , Masculino , Transcriptoma , Feminino , Perfilação da Expressão Gênica , Haploidia , Espermatozoides/metabolismoRESUMO
C8-desaturated and C9-methylated glucosylceramide (GlcCer) is a fungal-specific sphingolipid that plays an important role in the growth and virulence of many species. In this work, we investigated the contribution of Aspergillus nidulans sphingolipid Δ8-desaturase (SdeA), sphingolipid C9-methyltransferases (SmtA/SmtB) and glucosylceramide synthase (GcsA) to fungal phenotypes, sensitivity to Psd1 defensin and Galleria mellonella virulence. We showed that ΔsdeA accumulated C8-saturated and unmethylated GlcCer, while gcsA deletion impaired GlcCer synthesis. Although increased levels of unmethylated GlcCer were observed in smtA and smtB mutants, ΔsmtA and wild-type cells showed a similar 9,Me-GlcCer content, reduced by 50% in the smtB disruptant. The compromised 9,Me-GlcCer production in the ΔsmtB strain was not accompanied by reduced filamentation or defects in cell polarity. When combined with the smtA deletion, smtB repression significantly increased unmethylated GlcCer levels and compromised filamentous growth. Furthermore, sdeA and gcsA mutants displayed growth defects and raft mislocalization, which were accompanied by reduced neutral lipids levels and attenuated G. mellonella virulence in the ΔgcsA strain. Finally, ΔsdeA and ΔgcsA showed increased resistance to Psd1, suggesting that GlcCer synthesis and fungal sphingoid base structure specificities are relevant not only to differentiation but also to proper recognition by this antifungal defensin.
Assuntos
Aspergillus nidulans/metabolismo , Glucosilceramidas/metabolismo , Glucosiltransferases/metabolismo , Microdomínios da Membrana/metabolismo , Antifúngicos/química , Aspergillus nidulans/genética , Aspergillus nidulans/crescimento & desenvolvimento , Defensinas/metabolismo , Glucosilceramidas/química , Glucosilceramidas/genética , Glucosiltransferases/química , Glucosiltransferases/genética , Metilação , Metiltransferases/genética , Oxirredutases/metabolismo , Esfingolipídeos/química , Esfingolipídeos/metabolismoRESUMO
INTRODUCTION: Ischaemic stroke is rare during childhood. Congenital and acquired heart diseases are one of the most important risk factors for arterial ischaemic stroke (AIS) in children. PATIENTS AND METHODS: We conducted a retrospective study of all children with AIS and heart disease diagnosed between 2000 and 2014. RESULTS: We included 74 children with heart disease who were eligible for inclusion. 60% were boys with a mean stroke age of 11 months. 20% of the patients died during the study period. 90% of the patients had a congenital heart disease, while cyanotic heart disease was identified in 60%. Hypoplastic left heart syndrome was the most frequent heart disease. In 70% of patients AIS was directly associated with heart surgery, catheterisation or ventricular assist devices. Most patients with AIS were in the hospital. Seizures and motor deficit were the most frequent symptoms. Most patient diagnoses were confirmed by brain CT. The AIS consisted of multiple infarcts in 33% of the cases, affected both hemispheres in 27%, and involved the anterior and posterior cerebral circulation in 10%. CONCLUSIONS: Arterial ischaemic strokes were mainly associated with complex congenital heart diseases, and heart procedures and surgery (catheterisation). AIS presented when patients were in-hospital and most of the patients were diagnosed in the first 24hours.
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Cardiopatias/complicações , Cardiopatias/epidemiologia , Acidente Vascular Cerebral/etiologia , Circulação Cerebrovascular , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos , Fatores de RiscoRESUMO
Tyrosine hydroxylase (TH) deficiency is an inborn error of dopamine biosynthesis and a cause of early parkinsonism. Two clinical phenotypes have been described. Type "B": early onset severe encephalopathy; type "A": later onset, less severe and better response to L-dopa. We aimed to study the expression of several key dopaminergic and gabaergic synaptic proteins in the cerebrospinal fluid (CSF) of a series of patients with TH deficiency and their possible relation with the clinical phenotype and response to L-DOPA. Dopamine transporter (DAT), D2-receptor and vesicular monoamine transporter (VMAT2) were measured in the CSF of 10 subjects with TH deficiency by Western blot analysis. In 3 patients, data of pre- and post-treatment with L-DOPA were available, and in one of them, GABA vesicular transporter was determined. Results were compared to an age-matched control population. The concentration of D2-receptors in CSF was significantly higher in patients with TH deficiency than in controls. Similarly, DAT and vesicular monoamine transporter type 2 were up-regulated. Studies performed before L-DOPA, and on L-DOPA therapy showed a paradoxical response with D2 receptor expression increase as L-Dopa doses and homovanillic concentration gradually raised in a B phenotype patient. The opposite results were found in two patients with A phenotype. However, this is a very small sample, and further studies are needed to conclude robust differences between phenotypes. Synaptic proteins are detectable in the CSF and their quantification can be useful for understanding the pathophysiology of neurotransmitter defects and potentially to adjust and personalize treatments in the future.
Assuntos
Proteínas da Membrana Plasmática de Transporte de Dopamina/líquido cefalorraquidiano , Distúrbios Distônicos/congênito , Levodopa/uso terapêutico , Proteínas Vesiculares de Transporte de Monoamina/líquido cefalorraquidiano , Adolescente , Adulto , Biomarcadores/líquido cefalorraquidiano , Criança , Pré-Escolar , Distúrbios Distônicos/líquido cefalorraquidiano , Distúrbios Distônicos/tratamento farmacológico , Feminino , Expressão Gênica , Humanos , Recém-Nascido , Masculino , Fenótipo , Receptores de Dopamina D2/metabolismo , Tirosina 3-Mono-Oxigenase/deficiência , Adulto JovemRESUMO
INTRODUCTION: Prionopathy is the cause of 62% of the rapidly progressive dementias (RPD) in which a definitive diagnosis is reached. The variability of symptoms and signs exhibited by the patients, as well as its different presentation, sometimes makes an early diagnosis difficult. METHODS: Patients withdiagnosis of definite or probable prionopathy during the period 1999-2012 at our hospital were retrospectively reviewed.The clinical features and the results of the complementary tests (14-3-3 protein, EEG, MRI, FDG-PET, and genetic analysis) were evaluated in order to identify some factors that may enable an earlier diagnosis to be made. RESULTS: A total of 14 patients are described: 6 with definite sporadic Creutzfeldt-Jakob (sCJD) disease, 3 with probable sCJD, 4 with fatal familial insomnia, and 1 with the new variant. The median age at diagnosis was 54 years old. The mean survival was 9.5 months. Mood disorder was the most common feature, followed by instability and cognitive impairment. 14-3-3 protein content in the cerebrospinal fluid was positive in 7 of 11 patients, and the EEG showed typical signs in 2 of 12 patients. Neuroimaging (FDG-PET, MRI) studies suggested the diagnosis in 13 of the 14 patients included. CONCLUSIONS: Most patients presenting with RPD suffer from a prion disease. In our series the most useful complementary tests were MRI and FDG-PET, being positive in 13 of the 14 patients studied.
Assuntos
Síndrome de Creutzfeldt-Jakob/diagnóstico , Insônia Familiar Fatal/diagnóstico , Neuroimagem , Adulto , Idoso , Encéfalo , Demência/etiologia , Diagnóstico Diferencial , Imagem de Difusão por Ressonância Magnética , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: The aim of this study was to identify the aerobic bacteria of the preputial and vaginal microbiota in owl monkeys that have been raised in captivity and to evaluate the antimicrobial susceptibility of these bacteria by gender and social organization. METHODS: Thirty clinically healthy Aotus azarai infulatus were used. A total of 134 samples were collected, 60 from the preputial mucosa and 74 from the vaginal mucosa. An automated system of bacterial identification was used. RESULTS AND CONCLUSIONS: Staphylococcus intermedius and Proteus mirabilis were the microorganisms that were most frequently identified according to gender and social organization. The antimicrobial susceptibility of the isolated gram-positive bacteria was similar in both sexes. However, the gram-negative strains had some differences. The aerobic bacterial population of the vaginal and preputial microbiota is similar in owl monkeys, and there are no differences in the number and bacterial species according to sex and social organization.
Assuntos
Aotidae/microbiologia , Pênis/microbiologia , Vagina/microbiologia , Animais , Feminino , Bactérias Gram-Positivas/efeitos dos fármacos , Bactérias Gram-Positivas/isolamento & purificação , Masculino , Metagenoma , Testes de Sensibilidade Microbiana , Modelos Animais , Mucosa/microbiologia , Proteus mirabilis/efeitos dos fármacos , Proteus mirabilis/isolamento & purificação , Comportamento Sexual Animal , Staphylococcus intermedius/efeitos dos fármacosRESUMO
BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P = .04) and 10 had neurological impairment (P = .008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P < .001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values > 2 were correlated with psychomotor retardation (P < .001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.
Assuntos
Encefalopatias , Infecções por Citomegalovirus , Criança , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Neuroimagem , Estudos RetrospectivosRESUMO
BACKGROUND: Knowing the physiological ranges of certain hematological and biochemical parameters is necessary for understanding the alterations caused by pathogenic agents and establishing differences between states of health and disease. Hematological evaluations and clinical chemistry were performed on livers and kidneys from owl monkeys with different sexes and age ranges. METHODS: Forty-one healthy owl monkeys were evaluated (26 males and 15 females) in three different age groups (AG1=3months to 1 year old; AG2=2-6years old; AG3=over 7years old). The animals received physical exams, abdominal ultrasounds, and clinical laboratory tests. RESULTS AND CONCLUSIONS: Significant differences were observed in hematocrit and hemoglobin values between males and females. The levels of alkaline phosphatase in the tissues were significantly influenced by age. There was also a sex influence on blood urea nitrogen and creatinine levels. The results show that some hematological and clinical chemistry parameters in owl monkeys may be influenced by sex and age.
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Aotidae/sangue , Aotidae/fisiologia , Envelhecimento , Fosfatase Alcalina/análise , Animais , Nitrogênio da Ureia Sanguínea , Creatinina/sangue , Feminino , Hematócrito/normas , Hemoglobinas/análise , Rim/anatomia & histologia , Rim/diagnóstico por imagem , Fígado/anatomia & histologia , Fígado/diagnóstico por imagem , Masculino , Exame Físico/normas , Exame Físico/veterinária , Caracteres Sexuais , UltrassonografiaRESUMO
BACKGROUND: We aimed to evaluate the uterine and ovarian volumes of owl monkeys in different age groups with different numbers of live births and to analyze the interaction between both. METHODS: We performed pelvic ultrasound exams to compare the uterine measurements with weight, age (infant, juvenile, subadult, young adults, and adults) and the number of live births (nulliparous, primiparous, and multiparous) and to compare the ovarian measurements with weight and age. RESULTS AND CONCLUSIONS: The uterine volume (UV) was directly proportional to the number of parturitions, which was the most important factor in the uterine growth of adult females (P < 0.05). The body weight and age of the animals showed a high positive correlation with UV (r = 0.5354, r = 0.6489, P < 0.01), respectively. The volume of the ovaries grew in proportion to the age of the females (P < 0.05). Puberty was the period of greatest uterine and ovarian growth.
Assuntos
Envelhecimento , Aotidae/anatomia & histologia , Ovário/anatomia & histologia , Parto , Ultrassonografia/métodos , Útero/anatomia & histologia , Animais , Aotidae/crescimento & desenvolvimento , Brasil , Feminino , Processamento de Imagem Assistida por Computador , Ovário/diagnóstico por imagem , Ovário/crescimento & desenvolvimento , Ultrassonografia/veterinária , Útero/diagnóstico por imagem , Útero/crescimento & desenvolvimentoRESUMO
INTRODUCTION: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. AIM: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire CandA-GTS-QoL to measure quality of life in this population. PATIENTS AND METHODS: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. RESULTS: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for CandA-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: -0.732, p <0.01, CandA-GTS-QoL R2: -0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: -0.463, p = 0.03, CandA-GTS-QoL R2-0.534, p < 0.01). CONCLUSION: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of CandA-GTS-QoL scale.
TITLE: Calidad de vida y comorbilidades psiquiátricas en pacientes pediátricos con síndrome de Gilles de la Tourette.Introducción. El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos. Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (CandA-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos. Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados. Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la CandA-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p menor de 0,01). La gravedad de los tics se relacionó con una peor calidad de vida (PedsQL, R2: 0,707; p menor de 0,01; y CandA-GTS-QOL, R2: 0,501; p = 0,021). Una mayor puntuación la escala de Conners revisada para el TDAH se relacionó con peor calidad de vida (PedsQL, R2: 0,463; p = 0,03; y CandA-GTS-QOL, R2: 0,534; p menor de 0,01). Conclusión. La prevalencia de comorbilidades psiquiátricas en el síndrome de Gilles de la Tourette en nuestro medio es alta y frecuentemente infradiagnosticada. Los tics y las comorbilidades psiquiátricas afectan a la calidad de vida. Son necesarios estudios que validen la CandA-GTS-QOL.
Assuntos
Transtornos Mentais/complicações , Qualidade de Vida , Síndrome de Tourette/complicações , Adolescente , Criança , Feminino , Humanos , Masculino , Estudos Prospectivos , AutorrelatoRESUMO
Massive hemoptysis is an alarming event in which asphyxiation due to aspiration of blood is the main threat. The differential diagnosis taking into consideration a wide range of potential causes is required, and in 5% to 20% of cases, the reason for bleeding is never established. Hypoxemia and rebleeding are the main life-threatening complications. We describe the case of a 68-year-old man with no relevant medical history whose massive hemoptysis and complications were treated successfully by a multidisciplinary team.
Assuntos
Tratamento de Emergência , Hemoptise/terapia , Equipe de Assistência ao Paciente , Idoso , Humanos , Masculino , Índice de Gravidade de DoençaRESUMO
OBJECTIVE: The present case report aims to make a discussion concerning oral manifestations in a patient with a confirmed diagnosis of COVID-19. Female patient, 20 years old, nursing technician, showed severe sore throat and headache without presence of fever. She tested positive for COVID-19 RT-PCR test in 2 episodes. She also showed lesions in the median lower lip semimucosa and severe pruritus, with a clinical course of 14 days, in which we performed a clinical diagnosis of herpes simplex infection. We need to be precise in terms of clinical appearance and possible relation with the disease, as the clinicians have access to the patients.
Assuntos
Infecções por Coronavirus/diagnóstico , Herpes Simples/diagnóstico , Pneumonia Viral/diagnóstico , Betacoronavirus/genética , Betacoronavirus/isolamento & purificação , COVID-19 , Infecções por Coronavirus/complicações , Infecções por Coronavirus/virologia , Feminino , Herpes Simples/complicações , Humanos , Mucosa Bucal/patologia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/virologia , Prurido/complicações , Prurido/patologia , RNA Viral/metabolismo , SARS-CoV-2 , Adulto JovemRESUMO
The objective of the present study was to report the occurrence of Trypanoxyuris in owl monkeys, using data from clinical and haematological examinations, as well as clinical chemistry (blood urea nitrogen (BUN), creatinine, alanine aminotransferase (ALT) and aspartate aminotransferase (AST)) of infected and uninfected animals. Twenty animals in apparently good clinical health were studied. The coproparasitological examinations showed eggs compatible with Trypanoxyuris sp. in 50% of animals. The number of red blood cells, haematocrit and haemoglobin levels were significantly higher in the males, compared to the females, irrespective of parasitism. However, comparing segmented neutrophils in infected males and females, a significant difference (P < 0.05) was observed. All blood chemistry values were considered normal for the species pattern, even though significant differences were observed for BUN and ALT in infected males. The infection by Trypanoxyuris sp. did not appear to interfere with the clinical condition of animals.
Assuntos
Aotidae/parasitologia , Doenças dos Macacos/parasitologia , Doenças Parasitárias em Animais/parasitologia , Alanina Transaminase/sangue , Animais , Aotidae/sangue , Aspartato Aminotransferases/sangue , Análise Química do Sangue , Nitrogênio da Ureia Sanguínea , Creatinina/sangue , Feminino , Testes Hematológicos/métodos , Humanos , Masculino , Doenças dos Macacos/sangue , Contagem de Ovos de Parasitas/métodos , Doenças Parasitárias em Animais/sangue , Valores de Referência , Fatores SexuaisRESUMO
BACKGROUND: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. AIM: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. PATIENTS AND METHODS: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola' scale. Imaging findings were compared with neurological alterations in the patients' most recent follow-up evaluation at the paediatric neurology department. RESULTS: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola' scale values >2 were correlated with psychomotor retardation (P<.001). CONCLUSIONS: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits.
RESUMO
A subject is conscious when he is awake and with an adequate awareness of him and the environment. The term alteration of consciousness requires specification as to whether it defines alteration of arousal--when the patient might be confused, in a stupor or in some degree of coma (light, deep)--or alteration of awareness--that is, confused (spatio-temporally disoriented, with difficulty in maintaining his attention), with or without delirious ideation. The coma, in the strict sense, originates from structural (neurological) or functional (metabolic) dysfunction of the ascending reticular activator system, but it is accepted that it can derive also from diffuse bi-hemispheric cortical-subcortical damage. In the emergency department the starting point is the triad of situations that requires immediate treatment applying the normal protocol (ABC); next, pathologies involving risk to life, which might cause cerebral hypoxia, are ruled out: diminished cardiac output, shock and respiratory failure. Subsequently, a neurological evaluation is made, bearing in mind two situations of potential gravity: endocranial hypertension and diseases that might cause respiratory failure due to muscular fatigue. Neurological exploration will specify the respiratory, pupil and ocular patterns and motor responses. The depth of the coma is established through scales; a simplification of Jouvet's scale is proposed. The etiological diagnosis will on occasion require image tests and lumbar puncture.
Assuntos
Transtornos da Consciência , Tratamento de Emergência , Transtornos da Consciência/complicações , Transtornos da Consciência/diagnóstico , Transtornos da Consciência/terapia , Serviço Hospitalar de Emergência , Humanos , Exame Neurológico , TriagemRESUMO
OBJECTIVES: To compare the effectiveness, quality of lung collapse and time anesthesiology residents required for selective intubation using the double-lumen endotracheal tube (DLT) and the Arndt bronchial blocker (ABB). PATIENTS AND METHODS: Patients were sequentially assigned to 2 groups according to the side of surgery and then to 2 additional subgroups according to the device used. For right-sided surgery an ABB was placed in the right main bronchus or a DLT was placed in the left bronchus; for left-sided surgery an ABB was inserted into the left bronchus or a DLT was placed on the right. DLTs were introduced into the glottis by direct laryngoscopy and then guided into the bronchus using a fiberoptic bronchoscope. ABBs were introduced according to the manufacturer's recommendations. All devices were placed in position by residents. The variables recorded were time to insert the device, number of malpositions, and quality of lung collapse. RESULTS: Forty patients were included. Mean (SD) times for positioning each device were 4.12 (0.97) minutes for the ABB and 4.1 (2.7) minutes for the DLT in right-sided surgery and 7.92 (43) minutes for the ABB and 3.7 (1.8) minutes for the DLT in left-sided surgery (P < .015) for left sided surgery. There were no significant differences in the number of malpositionings. The quality of lung collapse was excellent in 90% of the cases. CONCLUSIONS: In the hands of supervised, inexperienced anesthesiologists the ABB took longer to position for left-sided thoracic surgery.
Assuntos
Anestesiologia , Brônquios , Intubação Intratraqueal/instrumentação , Procedimentos Cirúrgicos Pulmonares , Adulto , Idoso , Broncoscópios , Competência Clínica , Feminino , Tecnologia de Fibra Óptica , Humanos , Masculino , Pessoa de Meia-Idade , Pleurodese/métodos , Estudos Prospectivos , Toracotomia/métodosRESUMO
Introducción: La infección congénita por citomegalovirus (CMV) supone una importante causa de discapacidad. Existen escasas evidencias acerca del valor pronóstico de las lesiones presentes en los estudios de neuroimagen. Objetivo: Analizar la gravedad de las lesiones en la resonancia magnética (RM) y la ecografía transfontanelar, y su relación con déficits neurológicos a largo plazo. Pacientes y métodos: Se realizó un estudio observacional analítico retrospectivo de 36 pacientes con infección congénita por CMV. Se revisaron los estudios de neuroimagen y se clasificaron según la escala de Noyola et al. modificada. Se relacionaron los hallazgos de neuroimagen con la afectación neurológica en su última visita en la consulta de neuropediatría. Resultados: Un total de 36 pacientes fueron estudiados, habiéndose realizado ecografía transfontanelar en 30 y RM cerebral en 29. La ecografía transfontanelar estuvo alterada en 20/30 pacientes, de los cuales, 11 tuvieron alteración en la RM (p = 0,04) y 10 afectación neurológica (p = 0,008). Tuvo una sensibilidad del 83,3%, IC 90%: 58-100 y una especificidad del 44,4%, IC 90%: 18,7-70,2 para la predicción de secuelas neurológicas. La RM estuvo alterada en 20/29 pacientes. Dieciséis de ellos tuvieron afectación neurológica (p < 0,001), teniendo una sensibilidad del 94%, IC 95%: 80-100 y una especificidad del 66,6%, IC 95%: 36-97,5 para la predicción de secuelas neurológicas. Una escala de Noyola et al. ≥ 2 se asoció a retraso psicomotor (p < 0,001). Conclusión: Nuestro trabajo valida los estudios previos en los que se encuentra correlación estadísticamente significativa entre la extensión de las lesiones en neuroimagen y la gravedad de los déficits neurológicos. (AU)
Background: Congenital cytomegalovirus (CMV) infection is an important cause of disability. There is little evidence on the prognostic value of lesions identified in neuroimaging studies. Aim: The study aimed to assess the severity of lesions detected with brain MRI and transfontanellar ultrasound and their relationship with long-term neurological deficits. Patients and methods: We performed a retrospective, analytical, observational study of 36 patients with congenital CMV infection. Neuroimaging studies were reviewed and classified according to the modified Noyola scale. Imaging findings were compared with neurological alterations in the patients most recent follow-up evaluation at the paediatric neurology department. Results: Thirty-six patients were studied (transfontanellar ultrasound: 30; brain MRI: 29). Twenty of 30 patients showed ultrasound abnormalities; of these, 11 showed alterations on brain MR images (P=.04) and 10 had neurological impairment (P=.008). Transfontanellar ultrasound had a sensitivity of 83.3%, 90% CI: 58-100 and a specificity of 44.4%, 90% CI: 18.7-70.2 for predicting neurological sequelae. Brain MRI displayed abnormalities in 20 of 29 patients, of whom 16 had neurological impairment (P<.001). MRI had a sensitivity of 94%, 95% CI: 80-100 and a specificity of 66.6%, 95% CI: 36-97.5 for predicting neurological sequelae. Modified Noyola scale values >2 were correlated with psychomotor retardation (P<.001). Conclusions: Our findings validate previous studies reporting a statistical significant correlation between the extension of neuroimaging lesions and severity of neurological deficits. (AU)
Assuntos
Humanos , Criança , Encefalopatias , Infecções por Citomegalovirus/congênito , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/diagnóstico por imagem , Pediatria , Imageamento por Ressonância Magnética , Neuroimagem , Estudos Retrospectivos , Ultrassonografia , Prognóstico , Transtornos Psicomotores , Surdez , Métodos de Análise Laboratorial e de CampoRESUMO
Introducción: El síndrome de Gilles de la Tourette es un trastorno complejo que se acompaña habitualmente de comorbilidades psiquiátricas, como trastorno por déficit de atención/hiperactividad (TDAH), trastorno obsesivo-compulsivo (TOC), ansiedad o depresión. La calidad de vida de estos pacientes puede verse afectada por la gravedad de los tics y por la presencia de estas comorbilidades. Objetivos: Describir y relacionar la calidad de vida y las comorbilidades psiquiátricas en una muestra de pacientes pediátricos con síndrome de Gilles de la Tourette, así como proporcionar una versión en español del cuestionario Gilles de la Tourette Syndrome-Quality of Life Scale for Children and Adolescents (C&A-GTS-QOL) para medir la calidad de vida en esta población. Pacientes y métodos: Es un estudio transversal, observacional y unicéntrico. Se incluyó a pacientes entre 6 y 16 años con diagnóstico de síndrome de Tourette, de los cuales se recogieron datos demográficos y clínicos, así como diagnósticos y tratamientos previos. Se entregaron cuestionarios de gravedad de los tics, comorbilidad psiquiátrica y calidad de vida. Resultados: Se incluyó a 22 pacientes (86,4%, varones; mediana de edad, 11 años) con diagnóstico de síndrome de Gilles de la Tourette (según los criterios del Manual diagnóstico y estadístico de los trastornos mentales, quinta edición). El 86,4% tenía comorbilidades psiquiátricas diagnosticadas y el 72,7% recibía algún tratamiento. La prevalencia de ansiedad fue del 72,7%, la de depresión, del 50%, la de TDAH, del 40,9% y la de TOC, del 27,3%. La mediana de calidad de vida medida por el Pediatric Quality of Life Inventory (PedsQL) fue de 59,5 (rango intercuartílico: 34,8-71,3), y por la C&A-GTS-QOL, de 55,5 (rango intercuartílico: 45-65) (R2, 0,83; p < 0,01)...(AU)
Introduction: Tourette Syndrome (TS) is a complex neurodevelopmental disorder which is normally associated to psychiatric comorbidity such as attention deficit hyperactivity disorder, obsessive compulsive disorder, anxiety or depression. Quality of life (QoL) in these patients can be affected by tic severity and associated comorbidities. Aim: The aim of the study was to describe and analyze QoL and psychiatric comorbidities in a sample of pediatric patients, as well as to develop a Spanish version of the questionnaire C&A-GTS-QoL to measure quality of life in this population. Patients and methods: Single-center, observational, prospective study. Patients aged 6 to 16 years old with TS were included. Demographic, clinical, diagnostic and treatment data were gathered. Questionnaires regarding tic severity, psychiatric comorbidity and quality of life were used. Results: Twenty-two patients with DSM-5 diagnosis of TS were included (86.4% male, median age 11 years). Of those, 86.4% had been previously diagnosed of psychiatric comorbidities and 72.7% received psychopharmacologic treatment. The prevalence of an ICD-10 current diagnosis of anxiety was 72.7%, depression 50%, ADHD 40.9% and OCD 7.3%. Median QoL score was 59.5 (RIC: 34.8-71.3) for PedsQL, and 55.5 (RIC: 45-65) for C&A-GTS-QoL, with a correlation between scores of R2 = 0.83 (p < 0.01). Higher tic severity was associated with poorer QoL (PedsQL R2: 0.732, p <0.01, C&A-GTS-QoL R2: 0.501, p = 0.021). A higher EDAH score for ADHD was associated with poorer QoL (PedsQL R2: 0.463, p = 0.03, C&A-GTS-QoL R2-0.534, p < 0.01). Conclusion: Prevalence of psychiatric comorbidities in pediatric TS is high and frequently underdiagnosed. Tics and psychiatric comorbidities affect quality of life. Further studies are needed to validate the Spanish version of C&A-GTS-QoL scale.(AU)