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1.
BMC Genomics ; 22(1): 170, 2021 Mar 09.
Artículo en Inglés | MEDLINE | ID: mdl-33750302

RESUMEN

BACKGROUND: Ralstonia solanacearum is the causal agent of bacterial wilt, a devastating plant disease responsible for serious economic losses especially on potato, tomato, and other solanaceous plant species in temperate countries. In R. solanacearum, gene expression analysis has been key to unravel many virulence determinants as well as their regulatory networks. However, most of these assays have been performed using either bacteria grown in minimal medium or in planta, after symptom onset, which occurs at late stages of colonization. Thus, little is known about the genetic program that coordinates virulence gene expression and metabolic adaptation along the different stages of plant infection by R. solanacearum. RESULTS: We performed an RNA-sequencing analysis of the transcriptome of bacteria recovered from potato apoplast and from the xylem of asymptomatic or wilted potato plants, which correspond to three different conditions (Apoplast, Early and Late xylem). Our results show dynamic expression of metabolism-controlling genes and virulence factors during parasitic growth inside the plant. Flagellar motility genes were especially up-regulated in the apoplast and twitching motility genes showed a more sustained expression in planta regardless of the condition. Xylem-induced genes included virulence genes, such as the type III secretion system (T3SS) and most of its related effectors and nitrogen utilisation genes. The upstream regulators of the T3SS were exclusively up-regulated in the apoplast, preceding the induction of their downstream targets. Finally, a large subset of genes involved in central metabolism was exclusively down-regulated in the xylem at late infection stages. CONCLUSIONS: This is the first report describing R. solanacearum dynamic transcriptional changes within the plant during infection. Our data define four main genetic programmes that define gene pathogen physiology during plant colonisation. The described expression of virulence genes, which might reflect bacterial states in different infection stages, provides key information on the R. solanacearum potato infection process.


Asunto(s)
Ralstonia solanacearum , Solanum lycopersicum , Enfermedades de las Plantas , Ralstonia solanacearum/genética , Virulencia/genética , Factores de Virulencia/genética
2.
Lett Appl Microbiol ; 73(4): 495-505, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34265094

RESUMEN

The mitochondrial genome of Neurospora crassa has been less studied than its nuclear counterpart, yet it holds great potential for understanding the diversity and evolution of this important fungus. Here we describe a new mitochondrial DNA (mtDNA) complete sequence of a N. crassa wild type strain. The genome with 64 839 bp revealed 21 protein-coding genes and several hypothetical open reading frames with no significant homology to any described gene. Five large repetitive regions were identified across the genome, including partial or complete genes. The largest repeated region holds a partial nd2 section that was also detected in Neurospora intermedia, suggesting a rearrangement that occurred before the N. crassa speciation. Interestingly, N. crassa has a palindrome adjacent to the partial nd2 repeated region possibly related to the genomic rearrangement, which is absent in N. intermedia. Finally, we compared the sequences of the three available N. crassa complete mtDNAs and found low levels of intraspecific variability. Most differences among strains were due to small indels in noncoding regions. The revisiting of the N. crassa mtDNA forms the basis for future studies on mitochondrial genome organization and variability.


Asunto(s)
Genoma Mitocondrial , Neurospora crassa , Neurospora , ADN de Hongos , ADN Mitocondrial/genética , Neurospora/genética , Neurospora crassa/genética
3.
Med Oral Patol Oral Cir Bucal ; 26(6): e748-e753, 2021 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-34704977

RESUMEN

BACKGROUND: Kaposi's sarcoma (KS) is an uncommon, multifocal and angioproliferative lesion, which demonstrates a poor prognosis. The aim of the present research was to explore the association of HIV viral load, CD4+ and CD8+ counts and the CD4+/CD8+ ratio on the risk of oral Kaposi's sarcoma (KS) development. MATERIAL AND METHODS: A total of 62 patients were retrieved from March 2008 to October 2020 from the files of two oral pathology centres. Clinical, laboratory and follow-up data were retrieved from their medical files. Poisson regression was used to explore the role of history of immunosuppression and its association with oral KS development. A P-value <0.05 was considered significant. RESULTS: Sixty-two patients were included in the present study (32 with oral KS and 30 with no presentation of lesions anywhere on the body). Patients with oral KS presented a mean age of 32.6 years, and male patients were more affected. The hard palate (15 cases; 46.8%) was the main anatomical site affected. The lesions were mostly presented as swellings (13 cases; 40.6%) and nodules (12 cases; 37.5%). Systemic manifestations were also observed, including candidiasis (4 cases; 12.5%), bacterial infection (3 cases; 9.3%), tuberculosis (3 cases; 9.3%), herpes simplex (3 cases; 9.3%) and pneumonia (3 cases; 9.3%). A significant correlation was observed between HIV viral load, CD4+ count and the CD4+/CD8+ ratio with oral KS development. CONCLUSIONS: HIV viral load, CD4+ count and the CD4+/CD8+ ratio are associated with oral KS development.


Asunto(s)
Infecciones por VIH , Sarcoma de Kaposi , Adulto , Recuento de Linfocito CD4 , Linfocitos T CD4-Positivos , Linfocitos T CD8-positivos , Infecciones por VIH/complicaciones , Humanos , Masculino , Sarcoma de Kaposi/complicaciones , Carga Viral
4.
Lett Appl Microbiol ; 71(2): 171-178, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32270506

RESUMEN

The filamentous fungus Neurospora crassa is a popular model organism used in a wide range of biochemical and genetic studies and vastly used in mitochondrial research. Despite the relevance of mitochondria in N. crassa biology, no method for quantification of mitochondrial DNA (mtDNA) is currently available. Quantitative real-time PCR (qPCR) is a powerful tool, with a wide range of applications, and has been used for the quantification of nucleic acids in humans and a few other species. Here we present a new qPCR assay for relative quantification of N. crassa mtDNA. Three sets of qPCR primers targeting different regions of the mitochondrial genome were tested for mtDNA quantification. The qPCR was successfully validated in N. crassa strains from different geographical locations, representing the vast genetic diversity of this species, and knockout mutant strains. Moreover the assay proved to be efficient in templates with varied amounts of mitochondria, obtained through different DNA extraction methods. The qPCR performed well in all tested samples revealing a higher amount of mtDNA than nuclear DNA in all cases. This technique will facilitate the characterization of mtDNA of N. crassa in future studies and can be used as a tool to validate methods of mitochondria isolation. SIGNIFICANCE AND IMPACT OF THE STUDY: The standardization of quantitative real-time PCR (qPCR) techniques is essential to enable and facilitate future comparisons. Neurospora crassa is a model organism with a lot of potential in different fields of study. Here we use N. crassa to develop and establish an assay to quantify mitochondrial DNA using qPCR. We tested strains with different geographical background and our data demonstrated the usefulness of this assay to quantify mitochondrial DNA in N. crassa. This technique can be useful in a wide variety of applications and in different types of studies.


Asunto(s)
ADN de Hongos/análisis , ADN Mitocondrial/análisis , Neurospora crassa/genética , Reacción en Cadena en Tiempo Real de la Polimerasa/métodos , Cartilla de ADN/genética , ADN de Hongos/genética , ADN Mitocondrial/genética , Humanos , Mitocondrias/genética
5.
Eur Spine J ; 29(Suppl 1): 22-38, 2020 02.
Artículo en Inglés | MEDLINE | ID: mdl-31997016

RESUMEN

PURPOSE: To make a literature review on spinal stenosis recurrence after a first surgery and edit rules to avoid this complication. METHODS: We conducted two separate PUBMED searches to evaluate the revision post-stenosis and degenerative scoliosis surgery using the terms: lumbar vertebrae/surgery, spinal stenosis, spine, scoliosis and reoperation. The resulting papers were categorized into three groups: (1) those that evaluated reoperation post-simple decompression; (2) those that evaluated spinal decompression and fusion for short (3 levels or less) or long (more than 3 levels) segment spinal fusion; and (3) those diagnosing the stenosis during the surgery. RESULTS: (1) We found 11 relevant papers that only looked at revision spine surgery post-laminectomy for spinal stenosis. (2) We found 20 papers looked at reoperation post-laminectomy and fusion amongst which there were two papers specifically comparing long-segment (> 3 level) and short-segment (3 or less levels) fusions. (3) In the unspecified group, we found only one article. Fifteen articles were excluded as they were not specifically looking at our objective criteria for revision surgery. In regard to revision post-adult deformity surgery, we found 18 relevant articles. CONCLUSIONS: After this literature review and analysis of post-operative stenosis, it seems important to provide some advice to avoid revision surgeries more or less induced by the surgery. It looks interesting when performing simple decompression without fusion in the lumbar spine to analyse the risk of instability induced by the decompression and facet resection but also by a global balance analysis. Regarding pre-operative stenosis in a previously operated area, different causes may be evocated, like screw or cage malpositionning but also insufficient decompression which is a common cause. Intraoperatively, the use of neuromonitoring and intraoperative CT scan with navigation are useful tool in complex cases to avoid persisting stenosis. Pre-op analysis and planning are key parameters to decrease post-op problems. These slides can be retrieved under Electronic Supplementary Material.


Asunto(s)
Reoperación , Estenosis Espinal/cirugía , Descompresión Quirúrgica , Humanos , Vértebras Lumbares/cirugía , Escoliosis/cirugía , Fusión Vertebral
6.
Trop Anim Health Prod ; 51(4): 957-966, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30560524

RESUMEN

Sheep production systems in Brazilian caatinga rangelands require supplementation adapted to changes in floristic and chemical composition as dry seasons progress. Meeting sheep nutritional needs in extensive semiarid systems is challenging because of sheep dietary preferences and habits. The objective of this trial was to evaluate the substitutive effect of concentrate supplementation on grazing sheep in the Brazilian caatinga rangeland and its consequences on performance in different seasons. The trial was conducted from March to August 2013 at Embrapa Goat and Sheep in Sobral, Ceará State, Brazil. Thirty-two Brazilian Somali multiparous ewes were submitted to estrus synchronization and controlled breeding. At the start of the trial, ewes averaged 30.45 + 2.60 kg body weight (BW). Ewes were divided into four groups and individually offered 0, 200, 350, or 500 g supplement head-1 day-1. Intake prediction and digestibility trials were evaluated at three periods: rainy season (April), transition rainy-dry (June), and dry season (August). Sheep weights were taken every 14 days to measure their performance from late gestation until weaning. Ewe BW and body condition score changes were determined too. Lamb BW changes were also measured every 14 days from birth through weaning. A completely randomized design with split plot arrangement using eight replications was used for intake and digestibility measurements. The differences between supplement offered (0, 200, 350, and 500 g sheep-1) and season (rainy, transition rainy-dry, and dry) were submitted to analyses of variance and multiple means were separated, where differences were detected, using the Tukey's test. During lactation up through weaning, ewes supplemented at 500 g day-1 had greater BW than ewes without supplement. Ewes supplemented with 200 g concentrate head-1 day-1 had 9.1% greater (P ≤ 0.05) BW at weaning and their lambs had 19.7% greater birth and 16.6% heavier wean BW despite lower dry matter intake compared to unsupplemented animals. Supplementation with 200 g concentrate increased carrying capacity by 28.8% during the dry season and by 20.5% during the rainy season. This study confirmed that in the dry season, when quality of rangeland forages decreases, supplementation contributes to greater DMI, improves postpartum and lactation BW recovery of ewes, and contributes to greater lamb birth and wean weights. Moreover, supplementation leads to feed substitution effects that may increase rangeland resilience by mitigating overgrazing. Supplementation with 200 g concentrate can also prevent negative energy balance for grazing animals, improving longer postnatal recovery, longer intervals between parturitions, fewer double and is necessary to ensure a better BW at birth to lambs.


Asunto(s)
Digestión , Ingestión de Alimentos , Preñez , Oveja Doméstica/fisiología , Alimentación Animal/análisis , Crianza de Animales Domésticos , Fenómenos Fisiológicos Nutricionales de los Animales/efectos de los fármacos , Animales , Brasil , Dieta/veterinaria , Suplementos Dietéticos/análisis , Digestión/efectos de los fármacos , Relación Dosis-Respuesta a Droga , Ingestión de Alimentos/efectos de los fármacos , Ecosistema , Femenino , Embarazo , Preñez/efectos de los fármacos , Distribución Aleatoria , Estaciones del Año , Destete
7.
Epidemiol Infect ; 144(8): 1683-700, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26753627

RESUMEN

We investigated how different models of HIV transmission, and assumptions regarding the distribution of unprotected sex and syringe-sharing events ('risk acts'), affect quantitative understanding of HIV transmission process in people who inject drugs (PWID). The individual-based model simulated HIV transmission in a dynamic sexual and injecting network representing New York City. We constructed four HIV transmission models: model 1, constant probabilities; model 2, random number of sexual and parenteral acts; model 3, viral load individual assigned; and model 4, two groups of partnerships (low and high risk). Overall, models with less heterogeneity were more sensitive to changes in numbers risk acts, producing HIV incidence up to four times higher than that empirically observed. Although all models overestimated HIV incidence, micro-simulations with greater heterogeneity in the HIV transmission modelling process produced more robust results and better reproduced empirical epidemic dynamics.


Asunto(s)
Epidemias , Infecciones por VIH/epidemiología , Infecciones por VIH/transmisión , Abuso de Sustancias por Vía Intravenosa/complicaciones , Adolescente , Adulto , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Modelos Estadísticos , Ciudad de Nueva York/epidemiología , Sexo Inseguro , Adulto Joven
8.
Epidemiol Infect ; 143(12): 2648-52, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25578301

RESUMEN

A retrospective space-time permutation model with non-Euclidean distance criteria was applied within a high-complexity hospital setting to quantitatively explore cluster patterns of 273 patients infected with or colonized by carbapenemase-producing Klebsiella pneumoniae during 4 years. Results were compared to standard nosocomial active-surveillance methods. Two clusters were identified in the period, suggesting that space-time strategies for cluster quantification within confined environments may be useful.


Asunto(s)
Brotes de Enfermedades , Infecciones por Klebsiella/epidemiología , Klebsiella pneumoniae/aislamiento & purificación , Modelos Estadísticos , Vigilancia de la Población/métodos , Proteínas Bacterianas/biosíntesis , Proteínas Bacterianas/genética , Portador Sano/diagnóstico , Portador Sano/epidemiología , Análisis por Conglomerados , Infección Hospitalaria/diagnóstico , Infección Hospitalaria/epidemiología , Femenino , Hospitales , Humanos , Infecciones por Klebsiella/diagnóstico , Klebsiella pneumoniae/enzimología , Klebsiella pneumoniae/genética , Masculino , Pruebas de Sensibilidad Microbiana , Estudios Retrospectivos , Análisis Espacio-Temporal , beta-Lactamasas/biosíntesis , beta-Lactamasas/genética
9.
Eur J Appl Physiol ; 115(5): 1117-24, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-25547736

RESUMEN

PURPOSE: Our purpose was to characterize the oxygen uptake ([Formula: see text]) kinetics, assess the energy systems contributions and determine the energy cost when swimming front crawl at extreme intensity. Complementarily, we compared swimming full body with upper body only. METHODS: Seventeen swimmers performed a 100 m maximal front crawl in two conditions: once swimming with full body and other using only the upper propulsive segments. The [Formula: see text] was continuously measured using a telemetric portable gas analyser (connected to a respiratory snorkel), and the capillary blood samples for lactate concentration analysis were collected. RESULTS: A sudden increase in [Formula: see text] in the beginning of exercise, which continuously rose until the end of the bout (time: 63.82 ± 3.38 s; [Formula: see text]: 56.07 ± 5.19 ml min(-1) kg(-1); [Formula: see text] amplitude: 41.88 ± 4.74 ml min(-1) kg(-1); time constant: 12.73 ± 3.09 s), was observed. Aerobic, anaerobic lactic and alactic pathways were estimated and accounted for 43.4, 33.1 and 23.5 % of energy contribution and 1.16 ± 0.10 kJ m(-1) was the energy cost. Complementarily, the absence of lower limbs lead to a longer time to cover 100 m (71.96 ± 5.13 s), slower [Formula: see text] kinetics, lower aerobic and anaerobic (lactic and alactic) energy production and lower energy cost. CONCLUSION: Despite the short duration of the event, the aerobic energy contribution covers about 50 % of total metabolic energy liberation, highlighting that both aerobic and anaerobic energy processes should be developed to improve the 100 m swimming performance. Lower limbs action provided an important contribution in the energy availability in working muscles being advised its full use in this short duration and very high-intensity event.


Asunto(s)
Metabolismo Energético/fisiología , Consumo de Oxígeno/fisiología , Natación/fisiología , Adolescente , Humanos , Cinética , Masculino , Adulto Joven
10.
J Med Genet ; 50(7): 463-72, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23644449

RESUMEN

BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS: We performed a retrospective study of clinical, biochemical and molecular genetic data of 101 males with X-linked creatine transporter deficiency from 85 families with a pathogenic mutation in the creatine transporter gene (SLC6A8). RESULTS AND CONCLUSIONS: Most patients developed moderate to severe intellectual disability; mild intellectual disability was rare in adult patients. Speech language development was especially delayed but almost a third of the patients were able to speak in sentences. Besides behavioural problems and seizures, mild to moderate motor dysfunction, including extrapyramidal movement abnormalities, and gastrointestinal problems were frequent clinical features. Urinary creatine to creatinine ratio proved to be a reliable screening method besides MR spectroscopy, molecular genetic testing and creatine uptake studies, allowing definition of diagnostic guidelines. A third of patients had a de novo mutation in the SLC6A8 gene. Mothers with an affected son with a de novo mutation should be counselled about a recurrence risk in further pregnancies due to the possibility of low level somatic or germline mosaicism. Missense mutations with residual activity might be associated with a milder phenotype and large deletions extending beyond the 3' end of the SLC6A8 gene with a more severe phenotype. Evaluation of the biochemical phenotype revealed unexpected high creatine levels in cerebrospinal fluid suggesting that the brain is able to synthesise creatine and that the cerebral creatine deficiency is caused by a defect in the reuptake of creatine within the neurones.


Asunto(s)
Encefalopatías Metabólicas Innatas/genética , Creatina/deficiencia , Creatina/metabolismo , Discapacidad Intelectual Ligada al Cromosoma X/genética , Proteínas del Tejido Nervioso/genética , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/deficiencia , Adulto , Niño , Creatina/genética , Genes Ligados a X , Pruebas Genéticas , Genotipo , Humanos , Masculino , Fenotipo , Proteínas de Transporte de Neurotransmisores en la Membrana Plasmática/genética , Estudios Retrospectivos
11.
Eur Arch Paediatr Dent ; 25(1): 85-91, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38308725

RESUMEN

BACKGROUND: Amelogenesis imperfecta (AI) and dentinogenesis imperfecta (DI) are two groups of genetically inherited conditions resulting in abnormal enamel and dentin formation, respectively. Children and young people may be adversely affected by these conditions, with significant reduction in oral health related quality of life. Dental management of children with AI and DI is often complex, which is exacerbated by the absence of clear referral pathways and scarce evidence-based guidelines. METHOD: The need for increased knowledge and peer support led to the development of a group of UK paediatric dentists with a special clinical interest in the management of children with AI and DI. PURPOSE: The aims of this paper are to describe the establishment of an AI/DI Clinical Excellence Network (AI/DI CEN) in paediatric dentistry including outputs and future plans, and to share our collective learning to help support others anywhere in the world advance the care of people with AI or DI.


Asunto(s)
Amelogénesis Imperfecta , Dentinogénesis Imperfecta , Niño , Humanos , Adolescente , Amelogénesis Imperfecta/terapia , Dentinogénesis Imperfecta/terapia , Calidad de Vida , Dentina , Reino Unido
12.
J Biomech Eng ; 135(11): 111005, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-24008920

RESUMEN

The reverse shoulder replacement, recommended for the treatment of several shoulder pathologies such as cuff tear arthropathy and fractures in elderly people, changes the biomechanics of the shoulder when compared to the normal anatomy. Although several musculoskeletal models of the upper limb have been presented to study the shoulder joint, only a few of them focus on the biomechanics of the reverse shoulder. This work presents a biomechanical model of the upper limb, including a reverse shoulder prosthesis, to evaluate the impact of the variation of the joint geometry and position on the biomechanical function of the shoulder. The biomechanical model of the reverse shoulder is based on a musculoskeletal model of the upper limb, which is modified to account for the properties of the DELTA® reverse prosthesis. Considering two biomechanical models, which simulate the anatomical and reverse shoulder joints, the changes in muscle lengths, muscle moment arms, and muscle and joint reaction forces are evaluated. The muscle force sharing problem is solved for motions of unloaded abduction in the coronal plane and unloaded anterior flexion in the sagittal plane, acquired using video-imaging, through the minimization of an objective function related to muscle metabolic energy consumption. After the replacement of the shoulder joint, significant changes in the length of the pectoralis major, latissimus dorsi, deltoid, teres major, teres minor, coracobrachialis, and biceps brachii muscles are observed for a reference position considered for the upper limb. The shortening of the teres major and teres minor is the most critical since they become unable to produce active force in this position. Substantial changes of muscle moment arms are also observed, which are consistent with the literature. As expected, there is a significant increase of the deltoid moment arms and more fibers are able to elevate the arm. The solutions to the muscle force sharing problem support the biomechanical advantages attributed to the reverse shoulder design and show an increase in activity from the deltoid, teres minor, and coracobrachialis muscles. The glenohumeral joint reaction forces estimated for the reverse shoulder are up to 15% lower than those in the normal shoulder anatomy. The data presented here complements previous publications, which, all together, allow researchers to build a biomechanical model of the upper limb including a reverse shoulder prosthesis.


Asunto(s)
Fenómenos Mecánicos , Prótesis e Implantes , Hombro , Fenómenos Biomecánicos , Articulaciones , Modelos Biológicos , Músculos
13.
J Neurol Surg Rep ; 84(1): e31-e36, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36950334

RESUMEN

Introduction Facial nerve hemangiomas (FNH) are rare tumors. Although it can occur in any portion of the nerve, it predominantly appears near the geniculate ganglion. We present a case of facial nerve hemangioma of an unusual location. Case Report A 30-year-old woman presented with right-sided severe hearing loss and progressive facial palsy. Magnetic resonance showed a 5 mm lesion in the lateral portion of the right internal auditory canal. Due to facial palsy, the patient was submitted to a translabyrinthine approach and a total tumor resection, followed by hypoglossal-facial nerve anastomosis. Discussion The facial nerve is susceptible in its path to expansive lesions, which have high morbidity. FNH is a rare and difficult-to-diagnose lesion. Computerized tomography and nuclear magnetic resonance can be used in its diagnosis. The differential diagnosis of FNH includes, in addition to schwannomas, meningiomas, cholesteatomas, paragangliomas, and other temporal bone tumors. There is no well-established consensus on the best approach. Because of its slow growth and benign behavior, some studies suggest conservative treatment and serial imaging. However, surgery is the cornerstone of treatment, as it is the only curative option. Conclusion FNHs are often small but very symptomatic. Its high morbidity demands early diagnosis and, sometimes, surgical treatment.

14.
Cureus ; 15(7): e42766, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37663986

RESUMEN

Wernicke-Korsakoff syndrome (WKS) is caused by severe thiamine (vitamin B1) deficiency and can lead to chronic deficits. In this case, a 22-year-old pregnant patient at 10 1/7 weeks of gestation presented to the emergency department with malaise, asthenia, headache, weakness, vomiting, and weight loss of 12 kg. Pancreatitis and hepatic steatosis were considered but ruled out, and cholecystolithiasis was confirmed by ultrasound. After significant neurological deterioration, the patient underwent a cranial MRI that revealed suggestive findings in the thalamus consistent with WKS. WKS is a rare complication of hyperemesis gravidarum and should be included in the differential diagnosis of persistent vomiting in order to initiate early and appropriate treatment.

15.
Eur Arch Paediatr Dent ; 23(4): 579-586, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35713847

RESUMEN

PURPOSE: Dental bleaching in paediatric patients can be used to address discolouration of teeth due to trauma, endodontic treatment, or enamel and dentine defects. Despite being a minimally invasive and successful treatment, the use of bleaching products in children and young people remains controversial. This evaluation was designed to provide insight into the child's perspective on dental bleaching and the influence that this treatment has upon their life. METHOD: A dental bleaching patient reported outcome measure (PROM) was developed and piloted in 2019. Data were collected from 3 UK units (January-March 2020). Children attending these units for bleaching reviews were invited to complete the PROM. RESULTS: Twenty seven PROM questionnaires were completed including 19 courses of external bleaching and 8 courses of internal/external bleaching. The average age was 14 years old (9-17 years). The common indications for bleaching were Amelogenesis Imperfecta, dental trauma and Molar Incisor Hypomineralisation. Patients reported improvements in their appearance (89%) and self-confidence (81%). Sensitivity was the most common side effect, reported in 63% of cases. CONCLUSION: This PROM supports the use of dental bleaching in children and young people when treating dental disease that causes discolouration. Bleaching not only improved the appearance of teeth, but also patients' self-confidence. Sensitivity is a common side effect and clinicians should discuss this common risk and its management with patients and their families.


Asunto(s)
Amelogénesis Imperfecta , Hipoplasia del Esmalte Dental , Adolescente , Niño , Esmalte Dental , Hipoplasia del Esmalte Dental/terapia , Humanos , Medición de Resultados Informados por el Paciente , Reino Unido
16.
Gastroenterol Hepatol Bed Bench ; 15(1): 93-98, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35611253

RESUMEN

Stage IV colorectal cancer treatment includes targeted therapy depending on RAS status. During disease progression, loss or gain of RAS mutations could happen, supporting the hypothesis of the evolutionary pressure of therapy. Circulating tumor DNA (ctDNA) are nucleic acids released to the bloodstream by the tumor during its development and may be detected by liquid biopsy. The Idylla© Biocartis, a fully automated real-time-PCR-based molecular diagnostic system, was used in a patient with metastatic colorectal cancer with a NRAS mutation in progression after several therapeutic lines. The ctDNA mutational analysis was performed and revealed the absence of mutations in the KRAS, NRAS, and BRAF genes. The patient started the third line of palliative chemotherapy with irinotecan + cetuximab and achieved a partial response for the first time. The authors describe a case in which liquid biopsy determined the higher progression-free survival achieved.

17.
Eur Arch Paediatr Dent ; 23(5): 659-666, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-36219336

RESUMEN

PURPOSE: The European Academy of Paediatric Dentistry (EAPD) has developed this best clinical practice guidance to help clinicians manage deep carious lesions in primary teeth. METHODS: Three expert groups conducted systematic reviews of the relevant literature. The topics were: (1) conventional techniques (2) Minimal Intervention Dentistry (MID) and (3) materials. Workshops were held during the corresponding EAPD interim seminar in Oslo in April 2021. Several clinical based recommendations and statements were agreed upon, and gaps in our knowledge were identified. RESULTS: There is strong evidence that indirect pulp capping and pulpotomy techniques, and 38% Silver Diamine Fluoride are shown to be effective for the management of caries in the primary dentition. Due to the strict criteria, it is not possible to give clear recommendations on which materials are most appropriate for restoring primary teeth with deep carious lesions. Atraumatic Restorative Technique (ART) is not suitable for multi-surface caries, and Pre-formed Metal Crowns (PMCs) using the Hall technique reduce patient discomfort. GIC and RMGIC seem to be more favourable given the lower annual failure rate compared to HVGIC and MRGIC. Glass carbomer cannot be recommended due to inferior marginal adaptation and fractures. Compomers, hybrid composite resins and bulk-fill composite resins demonstrated similar values for annual failure rates. CONCLUSION: The management of deep carious lesions in primary teeth can be challenging and must consider the patient's compliance, operator skills, materials and costs. There is a clear need to increase the use of MID techniques in managing carious primary teeth as a mainstream rather than a compromise option.


Asunto(s)
Caries Dental , Odontología Pediátrica , Niño , Humanos , Diente Primario , Caries Dental/tratamiento farmacológico , Resinas Compuestas/uso terapéutico , Políticas
18.
Eur J Neurol ; 18(4): 649-55, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20964792

RESUMEN

BACKGROUND AND PURPOSE: Migraine is a common neurological disabling disorder, and anomalies of vascular function have been implied in its pathophysiology. Several findings point to a possible role of the endothelin receptor type A (EDNRA) in migraine. We aim to assess the involvement of endothelin receptor type A (EDNRA) in migraine susceptibility in a sample of Portuguese migraineurs. METHODS: Three tagging SNPs (rs702757, rs5333 and rs5335) were analysed in 188 cases - 111 without aura (MO) and 77 with aura (MA) - and 287 controls. A multivariable logistic regression was performed, including the three SNPs, adjusted for gender. Allelic and haplotypic frequencies were compared between cases and controls. Significant or promising results were confirmed by a multifactor dimensionality reduction analysis (MDR). RESULTS: We found a nominal association for the rs702757 T-allele [odds ratio (OR) = 1.44, 95% confidence intervals (CI): 1.05-1.99] and for the TT-genotype (OR = 2.34, 95% CI: 1.12-4.90) for MO, that do not remain significant after multiple test correction. A trend towards an increased risk for MA regarding the C-allele of rs5333 was also found. However, an additional MDR analysis was performed, and highly significant results were found for the two SNPs. The T-C-G haplotype (rs702757-rs5333-rs5335) was found to be significantly overrepresented in the MO subgroup, even after permutation was performed. CONCLUSIONS: Our results show additional findings for a role of EDNRA as a susceptibility factor for MO, although we cannot exclude the involvement of this gene in MA susceptibility in our population. Our study also emphasizes the need for replication of association findings in different populations.


Asunto(s)
Predisposición Genética a la Enfermedad/genética , Migraña sin Aura/genética , Receptor de Endotelina A/genética , Adolescente , Adulto , Edad de Inicio , Estudios de Casos y Controles , Femenino , Genotipo , Humanos , Masculino , Portugal , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Adulto Joven
19.
Genet Mol Res ; 10(4): 2860-6, 2011 Oct 31.
Artículo en Inglés | MEDLINE | ID: mdl-22057997

RESUMEN

We evaluated genetic and environmental factors affecting age at first farrowing of sows in the Brazilian southeast. For this purpose, 466 observations regarding the age at first farrowing were made for Dalland-C40© animals belonging to two herds. The effects of the environmental factors on this trait were assessed by means of a model that included, as random effects, the influence of the sow's father and mother and, as fixed effects, the influence the year of birth, the herd and the birth season, along with the covariable litter size at birth. The variance components were estimated using the derivative-free restricted maximum likelihood method. The estimated mean was 354.8 ± 25.87 days, with a coefficient of variation of 7.29%. Significant effects on the trait were observed for the herd, the year and the season of birth; but a linear effect of litter size at birth on the age at first farrowing was not observed. The boar did not significantly contribute to the variation occurring among the sows, whereas the sow's mother caused significant variation. The heritability estimate for the age at first farrowing was 0.44 ± 0.15, which is considered high. We concluded that herd effect and year and season of birth should be taken into consideration for an accurate genetic comparison; consequently, the animals should be joined into contemporary groups.


Asunto(s)
Parto/genética , Reproducción/genética , Factores de Edad , Análisis de Varianza , Animales , Brasil , Cruzamiento , Clima , Femenino , Tamaño de la Camada/genética , Modelos Estadísticos , Paridad/genética , Embarazo , Estaciones del Año , Porcinos
20.
J Environ Monit ; 13(11): 3026-39, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-22002748

RESUMEN

Environmental impacts of airports are similar to those of many industries, though their operations expand over a very large area. Most international impact assessment studies and environmental management programmes have been giving less focus on the impacts to soil and groundwater than desirable. This may be the result of the large attention given to air and noise pollution, relegating other environmental descriptors to a second role, even when the first are comparatively less relevant. One reason that contributes to such "biased" evaluation is the lack of systematic information about impacts to soil and groundwater from airport activities, something the present study intends to help correct. Results presented here include the review of over seven hundred documents and online databases, with the objective of obtaining the following information to support environmental studies: (i) which operations are responsible for chemical releases?; (ii) where are these releases located?; (iii) which contaminants of concern are released?; (iv) what are the associated environmental risks? Results showed that the main impacts occur as a result of fuel storage, stormwater runoff and drainage systems, fuel hydrant systems, fuel transport and refuelling, atmospheric deposition, rescue and fire fighting training areas, winter operations, electrical substations, storage of chemical products by airport owners or tenants, and maintenance of green areas. A new method for ranking environmental risks of organic substances, based on chemical properties, is proposed and applied. Results show that the contaminants with the highest risks are the perfluorochemicals, benzene, trichloroethylene and CCl(4). The obtained information provides a basis for establishing the planning and checking phases of environmental management systems, and may also help in the best design of pollution prevention measures in order to avoid or reduce significant environmental impacts from airports.


Asunto(s)
Aeropuertos , Monitoreo del Ambiente/métodos , Contaminación Ambiental , Agua Subterránea , Contaminantes del Suelo , Contaminantes Químicos del Agua , Contaminación Ambiental/efectos adversos , Contaminación Ambiental/análisis , Aceites Combustibles/efectos adversos , Aceites Combustibles/análisis , Contaminación por Petróleo/efectos adversos , Contaminación por Petróleo/análisis , Medición de Riesgo , Contaminantes del Suelo/efectos adversos , Contaminantes del Suelo/análisis , Contaminantes Químicos del Agua/efectos adversos , Contaminantes Químicos del Agua/análisis , Contaminación Química del Agua/efectos adversos , Contaminación Química del Agua/análisis
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