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1.
Plants (Basel) ; 13(7)2024 Mar 22.
Artículo en Inglés | MEDLINE | ID: mdl-38611447

RESUMEN

The use of biostimulants is becoming a useful tool for increasing crop productivity while enhancing nutritional quality. However, new studies are necessary to confirm that the joint application of different types of biostimulants, together with bioactive compounds, is effective and not harmful to plants. This study examined the impact of applying the biostimulant Green Leaves, comprising Macrocystis algae extract and containing a mixture of amino acids, corn steep liquor extract, calcium, and the bioactive compound glycine betaine. The effect of applying two different doses (3 and 5 mL L-1) of this biostimulant was evaluated on lettuce plants, and growth and quality parameters were analyzed along with photosynthetic efficiency, nutritional status, and nutrient efficiency parameters. The application of Green Leaves improved plant weight (25%) and leaf area and enhanced the photosynthetic rate, the accumulation of soluble sugars and proteins, and the agronomic efficiency of all essential nutrients. The 3 mL L-1 dose improved the nutritional quality of lettuce plants, improving the concentration of phenolic compounds and ascorbate and the antioxidant capacity and reducing NO3- accumulation. The 5 mL L-1 dose improved the absorption of most nutrients, especially N, which reduced the need for fertilizers, thus reducing costs and environmental impact. In short, the Green Leaves product has been identified as a useful product for obtaining higher yield and better quality.

2.
Artículo en Inglés | MEDLINE | ID: mdl-36834410

RESUMEN

Clubfoot is a common congenital deformity of the lower limbs. It should be treated as soon as possible so that its correction is more easily achieved. The objective of this systematic review was to assess the effectiveness of the Ponseti method in the treatment of clubfoot. A bibliographic search was carried out in different databases, including PubMed and SciELO. Filters such as full text and randomized controlled trial were selected to find those articles that best matched our search. Among the results, we selected the ones that interested us, and the rest were discarded, either because they did not meet the requirements for our work or because they were repeated. In total, we collected 19 articles, but after using the critical evaluation instrument CASPe, 7 of them were eliminated, leaving us with a total of 12 articles for our systematic review. After analyzing the results obtained in the selected articles, we concluded that the Ponseti method is effective in the treatment of clubfoot, presenting a high success rate.


Asunto(s)
Pie Equinovaro , Procedimientos Ortopédicos , Humanos , Pie Equinovaro/cirugía , Resultado del Tratamiento , Manejo de Datos , Bases de Datos Factuales , Ensayos Clínicos Controlados Aleatorios como Asunto
3.
Can J Urol ; 29(2): 11111-11115, 2022 04.
Artículo en Inglés | MEDLINE | ID: mdl-35429430

RESUMEN

Aquablation has been well-studied in prostates sizes up to 150 mL. Recently, American Urological Association guidelines distinguish surgical interventions for men with large prostates (80 mL-150 mL) and now very large prostates (> 150 mL). Readers will gain an understanding of how to use Aquablation in the very large prostate size category.


Asunto(s)
Técnicas de Ablación , Síntomas del Sistema Urinario Inferior , Hiperplasia Prostática , Resección Transuretral de la Próstata , Humanos , Síntomas del Sistema Urinario Inferior/cirugía , Masculino , Próstata/cirugía , Hiperplasia Prostática/cirugía , Resultado del Tratamiento
4.
Can J Urol ; 28(6): 10884-10888, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34895392

RESUMEN

INTRODUCTION: The AUA guidelines for benign prostatic hyperplasia distinguish treatments based upon prostate volume (PV), particularly for very large prostates (> 150 mL). While the clinical outcomes and benefits of Aquablation have been studied for men with average and large prostates, it is unknown whether this technology can be used for very large prostates. MATERIALS AND METHODS: Men with PV > 150 mL undergoing Aquablation were identified retrospectively from four North American hospitals. The surgical times and clinical outcomes of men with very large prostates (> 150 mL) were compared to data from men with average PV ≤ 80 mL (WATER study) and large PV 80 mL-150 mL (WATER II study). RESULTS: The average PV of men who underwent Aquablation with very large prostates was 209 mL ± 56 (n = 34, range 151-362 mL), large PV 107 mL ± 20 (n = 101, range 80-150 mL) and average PV 54 mL ± 16 (n = 116, range 30-80 mL). For men with PV > 150 mL, baseline IPSS was 19 ± 6. With a mean follow up of 7 ± 9 months, the IPSS improved to 7 ± 5 (p < 0.001). Peak urinary flow rate, Qmax, improved from 7 ± 4 mL/s to 19 ± 5 mL/s (p<0.001). Compared to the two other PV groups, there were no differences in terms of improvements in IPSS, quality of life, or uroflowmetry. There were no reports of transfusions (0%) in the cohort of men with very large prostates. CONCLUSIONS: In the present study, we demonstrate that Aquablation is effective and safe in prostates greater than 150 mL while showing consistent outcomes compared to average and large prostates sizes.


Asunto(s)
Técnicas de Ablación , Síntomas del Sistema Urinario Inferior , Hiperplasia Prostática , Humanos , Síntomas del Sistema Urinario Inferior/complicaciones , Síntomas del Sistema Urinario Inferior/cirugía , Masculino , Próstata/cirugía , Hiperplasia Prostática/complicaciones , Hiperplasia Prostática/cirugía , Calidad de Vida , Estudios Retrospectivos , Resultado del Tratamiento , Agua
5.
Clin Pract ; 11(3): 561-581, 2021 Aug 26.
Artículo en Inglés | MEDLINE | ID: mdl-34449567

RESUMEN

BACKGROUND: The use of diverse therapies combined with a multidisciplinary approach and prevention initiatives for patients with chronic non-malignant pain (CNMP) can improve health and have a positive impact on psychotropic drug use and the self-management of pain. PURPOSE: This purpose of this study has been two-fold: to conduct a literature review with a view to selecting best evidence recommendations for CNMP and to prioritize self-care recommendations using a participatory methodology for the analysis and selection of interventions. METHODS: A qualitative, descriptive, and documentary method based on participatory action research was used. FINDINGS: Based on the study results, a multimodal psychosocial intervention program has been designed for CNMP that includes psychoeducational therapy, pharmacological therapy, physical exercise, and health assets. DISCUSSION: The findings are consistent with previous studies underlining the need to invest in resources for the management of CNMP, including strategies for good differential diagnoses and pharmacological treatments combined with non-pharmacological treatments to confer greater well-being for people living with pain who want to participate in their own recovery.

6.
Artículo en Inglés | MEDLINE | ID: mdl-34444618

RESUMEN

The purpose of this cross-sectional study was to analyse the relationship of neuromuscular performance and spatiotemporal parameters in 18 adolescent distance athletes (age, 15.5 ± 1.1 years). Using the OptoGait system, the power, rhythm, reactive strength index, jump flying time, and jump height of the squat jump, countermovement jump, and eight maximal hoppings test (HT8max) and the contact time (CT), flying time (FT), step frequency, stride angle, and step length of running at different speeds were measured. Maturity offset was determined based on anthropometric variables. Analysis of variance (ANOVA) of repeated measurements showed a reduction in CT (p < 0.000) and an increase in step frequency, step length, and stride angle (p < 0.001), as the velocity increased. The HT8max test showed significant correlations with very large effect sizes between neuromuscular performance variables (reactive strength index, power, jump flying time, jump height, and rhythm) and both step frequency and step length. Multiple linear regression found this relationship after adjusting spatiotemporal parameters with neuromuscular performance variables. Some variables of neuromuscular performance, mainly in reactive tests, were the predictors of spatiotemporal parameters (CT, FT, stride angle, and VO). Rhythm and jump flying time in the HT8max test and power in the countermovement jump test are parameters that can predict variables associated with running biomechanics, such as VO, CT, FT, and stride angle.


Asunto(s)
Rendimiento Atlético , Carrera , Adolescente , Atletas , Fenómenos Biomecánicos , Estudios Transversales , Femenino , Humanos , Músculos
7.
J Clin Med ; 10(10)2021 May 19.
Artículo en Inglés | MEDLINE | ID: mdl-34069751

RESUMEN

There is a lack of scientific evidence about the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). The clinical manifestations are not thoroughly understood; classically, the virus manifests itself at the pulmonary level but can manifest at other levels. To the best of our knowledge, systematic reviews and non-systematic reviews about COVID-19 symptoms in the feet have not been published. The aim of this review of reviews was to analyze and synthesize the published reviews on manifestations of COVID-19 at the foot level. Methods: a review of reviews was conducted; the eligibility criteria included studies published in English or Spanish, involving children and adults with COVID-19, and reporting foot manifestations. PubMed, SciELO, Science Direct, Cochrane Database of Systematic Review, and Google Scholar were analyzed. Two authors independently performed the screening and quality assessment of the studies with AMSTAR 1, and finally, nine reviews were analyzed (one systematic and eight narratives studies). The main clinical manifestations at the foot level in patients with COVID-19 were vascular (edema, exanthems, chilblains, ischemia, and distal necrosis), dermatological (vesicular, maculopapular, papulosquamous, urticarial skin breakouts, and recurrent herpes), and neurological (muscular weakness in lower limbs, paresis, areflexias, ataxia, and difficulty walking). Erythema pernio or "COVID toes" was shown as the most characteristic lesion of this disease, especially in asymptomatic children and young people, so this typical manifestation may be considered important in patients who are positive for COVID-19. This finding does not allow for strong conclusions due to the scarce literature and methodological quality in this regard. Future studies are necessary.

8.
Can J Urol ; 27(5): 10378-10381, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-33049190

RESUMEN

INTRODUCTION To characterize procedure variables and outcome data from men undergoing the Aquablation Therapy of the prostate procedure for lower urinary tract symptoms due to benign prostatic hyperplasia (BPH). We evaluated the safety and efficacy of robotically guided waterjet-based prostate resection in the first study of all-comers in a single-center, commercial setting in the United States. MATERIALS AND METHODS: The analysis was a retrospective review of prospectively collected data. RESULTS: Fifty-five men underwent the Aquablation of the prostate between July 2018 and December 2019. Mean prostate volume was 100 cc, and 85% had a prominent, obstructing middle lobe. Operative time averaged 59 minutes, and the mean hemoglobin drop was 1 g/dL. A substantial improvement of 80% (17 points) was seen in BPH symptoms scores. By uroflowmetry, Qmax improved by 182% (14 mL/sec). Men with prostate volume > 100 cc had similar hospital length of stay, BPH symptom reduction, and Qmax improvement compared to those with volume < 100 cc. CONCLUSION: In the setting of a community private urology practice, Aquablation Therapy was safe and effective for the treatment of men with BPH regardless of prostate shape or prostate size.


Asunto(s)
Técnicas de Ablación/métodos , Síntomas del Sistema Urinario Inferior/cirugía , Prostatectomía/métodos , Hiperplasia Prostática/cirugía , Técnicas de Ablación/efectos adversos , Anciano , Anciano de 80 o más Años , Humanos , Síntomas del Sistema Urinario Inferior/etiología , Masculino , Persona de Mediana Edad , Prostatectomía/efectos adversos , Hiperplasia Prostática/complicaciones , Estudios Retrospectivos , Procedimientos Quirúrgicos Robotizados , Resultado del Tratamiento , Agua
9.
Sci Rep ; 9(1): 12192, 2019 08 21.
Artículo en Inglés | MEDLINE | ID: mdl-31434980

RESUMEN

The purpose of this study was to analyze spatiotemporal parameters of gait in children using varyingly loaded Backpacks(BP). This cross-sectional study examined 231 schoolchildren (118 boys, 113 girls) aged six to 12 years, carrying a traditional BP to manipulate loading (Crossing Backpack Children Arpenaz 7 Litres, Junior Red Quechua). Load was added to the BPs in increments of 5%, 10%, 15% and 20% of the child's body weight. Spatio-temporal parameters were measured with the OptoGait system. Significant differences were observed in single support (p < 0.001), and double support (p < 0.001). No statistically significant differences were observed in step length (p = 0.959) between the five loading conditions. Similarly, no statistically significant differences were found in the contact phase (p = 0.208), although significant changes were seen between baseline, 15% of body weight (p < 0.005), and 20% of body weight (p < 0.005). The effect sizes from the ANOVA in the single support was low (0.015), and double support was moderate (0.02). Increased weight in BPs reduced both children's balance and single support, increased double support, but did not change step length. The children increase double support with heavier loads to help their balance. The spatio-temporal changes were most evident with BP loads between 15-20% of body weight. Affective responses, including the perception of heaviness or difficulty in carrying the schoolbags need to be included in further and prospective investigations.


Asunto(s)
Marcha/fisiología , Soporte de Peso/fisiología , Peso Corporal , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Equilibrio Postural , Análisis Espacio-Temporal
10.
J Am Podiatr Med Assoc ; 109(1): 30-35, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30964316

RESUMEN

BACKGROUND: Planovalgus foot prevalence estimates vary widely (0.6%-77.9%). Among the many factors that may influence planovalgus foot development, much attention has been given to body mass index, especially that of children's feet; factors related to psychomotor development have been less studied. We sought to determine the presence of planovalgus foot in children and its association with anthropometric parameters and psychomotor development. METHODS: A case-control study was conducted in Málaga, Spain, 2012-2013, of 104 schoolchildren (mean ± SD age, 7.55 ± 0.89 years; 45.2% were boys). Age, sex, body mass index, presence of valgus (valgus index, by pedigraphy), and personal history related to psychomotor development of the lower limbs (presence/absence of crawling, age at onset of crawling, age at onset of walking, use of mobility aids) were evaluated. RESULTS: Of the children with obesity, 53.7% had valgus deformity in the left hindfoot (odds ratio [OR], 6.94; 95% confidence interval [CI], 2.72-17.70; P < .0001). In the right foot, the corresponding values were 54.5% (OR, 9.08; 95% CI, 3.38-24.36; P < .0001). Multivariate logistic regression showed an increased risk of left planovalgus foot in boys, in children with overweight or obesity, and in those who began walking later. For the right foot, the same risk factors applied except age at onset of walking. CONCLUSIONS: These results corroborate data from previous studies, which report an association between overweight and obesity and the onset of planovalgus foot in children. In addition, we identify a new risk factor: age at onset of walking.


Asunto(s)
Desarrollo Infantil/fisiología , Deformidades del Pie/fisiopatología , Obesidad Infantil/fisiopatología , Caminata/fisiología , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino
11.
J Clin Med ; 8(1)2019 Jan 12.
Artículo en Inglés | MEDLINE | ID: mdl-30642069

RESUMEN

For thousands of years, shoes have been worn to protect the feet from injury, and the proper choice and use of footwear are directly relevant to foot health, especially that of children. The aim of this study was to evaluate the association between shoe-related factors (type and frequency of use) and the prevalence of valgus foot in children. This analytical cross-sectional observational study was carried out on a population of children in the first, second or third year of primary education, to analyzing the frequency and type of shoes worn, and to determining the presence or not of valgus foot. The sample consisted of 132 children (of 642 potential subjects), with an average age of 7.53 years (Standard Deviation (SD) 0.80), which was composed of 61 boys (46.2%) and 71 girls (53.8%). The overall prevalence of valgus foot was 45.5% (n = 60). The use of boots 2⁻5 days a week was significantly associated, in both sexes, with a lower prevalence of valgus in the left foot (30.5%, p = 0.009). The use of boots could be associated with a lower presence of valgus, depending on the frequency of wear.

12.
J Pharmacol Exp Ther ; 367(2): 292-301, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30171039

RESUMEN

The N-methyl-d-aspartate receptor coagonist d-serine is a substrate for the neutral amino acid transporters ASCT1 and ASCT2, which may regulate its extracellular levels in the central nervous system (CNS). We tested inhibitors of ASCT1 and ASCT2 for their effects in rodent models of schizophrenia and visual dysfunction, which had previously been shown to be responsive to d-serine. L-4-fluorophenylglycine (L-4FPG), L-4-hydroxyPG (L-4OHPG), and L-4-chloroPG (L-4ClPG) all showed high plasma bioavailability when administered systemically to rats and mice. L-4FPG showed good brain penetration with brain/plasma ratios of 0.7-1.4; however, values for L-4OHPG and L-4ClPG were lower. Systemically administered L-4FPG potently reduced amphetamine-induced hyperlocomotion in mice, whereas L-4OHPG was 100-fold less effective and L-4ClPG inactive at the doses tested. L-4FPG and L-4OHPG did not impair visual acuity in naive rats, and acute systemic administration of L-4FPG significantly improved the deficit in contrast sensitivity in blue light-treated rats caused by retinal degeneration. The ability of L-4FPG to penetrate the brain makes this compound a useful tool to further evaluate the function of ASCT1 and ASCT2 transporters in the CNS.


Asunto(s)
Sistema de Transporte de Aminoácidos ASC/antagonistas & inhibidores , Esquizofrenia/metabolismo , Trastornos de la Visión/metabolismo , Animales , Encéfalo/efectos de los fármacos , Encéfalo/metabolismo , Glicina/farmacología , Locomoción/efectos de los fármacos , Masculino , Ratones , Ratones Endogámicos C57BL , Antígenos de Histocompatibilidad Menor , Ratas , Ratas Long-Evans , Ratas Sprague-Dawley , Receptores de N-Metil-D-Aspartato/antagonistas & inhibidores , Esquizofrenia/tratamiento farmacológico , Serina/farmacología , Trastornos de la Visión/tratamiento farmacológico
13.
Vision Res ; 127: 35-48, 2016 10.
Artículo en Inglés | MEDLINE | ID: mdl-27461280

RESUMEN

The NMDA subtype of glutamate receptor and its co-agonist d-serine play a key role in synaptic function in the central nervous system (CNS), including visual cortex and retina. In retinal diseases such as glaucoma and macular degeneration, a loss of vision arises from malfunction of retinal cells, resulting in a glutamate hypofunctional state along the visual pathway in the affected parts of the visual field. An effective strategy to remedy this loss of function might be to increase extracellular levels of d-serine and thereby boost synaptic NMDA receptor-mediated visual transmission and/or plasticity to compensate for the impairment. We tested this idea in brain slices of visual cortex exhibiting long-term potentiation, and in rodent models of visual dysfunction caused by retinal insults at a time when the injury had stabilized to look for neuroenhancement effects. An essential aspect of the in vivo studies involved adapting sweep VEP technology to conscious rats and rabbits and combining it with intracortical recording while the animals were actively attending to visual information. Using this technology allowed us to establish complete contrast sensitivity function curves. We found that systemic d-serine dose-dependently rescued the contrast sensitivity impairment in rats with blue light-induced visual dysfunction. In rabbits with inner retinal dysfunction, both systemic and intravitreal routes of d-serine provided a rescue of visual function. In sum, we show that co-agonist stimulation of the NMDA receptor via administration of exogenous d-serine might be an effective therapeutic strategy to enhance visual performance and compensate for the loss of vision resulting from retinal disease.


Asunto(s)
Sensibilidad de Contraste/efectos de los fármacos , Potenciales Evocados Visuales/efectos de los fármacos , Enfermedades de la Retina/tratamiento farmacológico , Serina/farmacología , Corteza Visual/efectos de los fármacos , Animales , Sensibilidad de Contraste/fisiología , Modelos Animales de Enfermedad , Masculino , Conejos , Ratas , Ratas Sprague-Dawley , Enfermedades de la Retina/fisiopatología , Corteza Visual/fisiología
14.
Anesthesiology ; 114(6): 1403-16, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21540738

RESUMEN

BACKGROUND: Stress has paradoxical effects on pain, causing stress-induced analgesia but also exacerbating pain via poorly understood mechanisms. Adrenergic neurotransmission is integral in pathways that regulate the response to both pain and stress. Hyperalgesia is often associated with enhanced adrenergic sensitivity of primary afferents, but sympathetic nervous system outflow has not been demonstrated to exacerbate pain perception after stress. METHODS: Rats or C57/BL6 wild-type mice treated with α-2 receptor antagonists or α-2A receptor knockout mice were exposed to ultrasonic noise stress or footshock stress and subsequently tested for hotplate paw withdrawal latencies. The sensory sensitivity of α-2A knockout mice to electrical and chemical stimuli was tested neurophysiologically and behaviorally. The effects of sympatholytic treatments were investigated. RESULTS: Noise and footshock stressors induced thermal hyperalgesia in rats pretreated systemically with α-2 antagonists. Wild-type mice pretreated with α-2 antagonists and α-2A knockout mice also exhibited thermal hyperalgesia induced by noise stress. Local spinal or intraplantar injection of an α-2 antagonist counteracted stress-induced analgesia without causing hyperalgesia. The α-2A knockout mice had decreased thresholds for peripheral sensitization with sulprostone and for windup of the dorsal horn neuronal response to repetitive electrical stimuli. Stress-induced hyperalgesia was abolished and the sensitization was attenuated by sympathectomy or systemic administration of an α-1-adrenergic antagonist. CONCLUSIONS: Sympathetic postganglionic nerves can enhance pain sensation via a peripheral α-1-adrenoceptor mechanism when sympathetic outflow is disinhibited. The net effect of stress on pain sensation reflects a balance between descending spinal inhibition and sympathetic outflow that can shift toward pain facilitation when central and peripheral α-2-adrenoceptor inhibitory mechanisms are attenuated.


Asunto(s)
Antagonistas de Receptores Adrenérgicos alfa 2/toxicidad , Analgesia , Hiperalgesia/inducido químicamente , Receptores Adrenérgicos alfa 2/fisiología , Estrés Psicológico , Analgesia/métodos , Animales , Hiperalgesia/fisiopatología , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Dimensión del Dolor/métodos , Ratas , Ratas Sprague-Dawley , Receptores Adrenérgicos alfa 2/deficiencia , Estrés Psicológico/fisiopatología , Estrés Psicológico/psicología
15.
Am J Med Genet A ; 146A(1): 97-102, 2008 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-18074364

RESUMEN

Down syndrome is the most frequent autosome aneuploidy in live newborns. It was recently proposed that pericentromeric cryptic translocations might be a cause of chromosome nondisjunction. We describe here a phenotypically normal subject with a cryptic translocation involving the short arms of chromosomes 13 or 21 and 22, who had a son with Down syndrome. Fluorescent in situ hybridization (FISH) on paternal metaphase chromosomes showed a chromosome 22 centromere positive for both 13/21 and 14/22 centromeric probes. The same probes hybridized on different and contiguous sites of chromatin fibers, eliminating cross-hybridization artifacts. This confirmed the presence of a cryptic translocation generating a dicentric chromosome 22: fib ish dic(21;22)(21 pter --> 21q10::22q10 --> 22 qter)(D13/21Z1+;D14/22Z1+). Microsatellite STR segregation analysis confirmed the paternal origin of the additional chromosome 21 in the Down syndrome patient. To determine whether the father showed a higher-than-normal frequency of chromosome 21 nondisjunction, FISH analysis of spermatozoa was performed using a sequence specific probe (21q22.13-q22.2). The frequency of disomy 21 spermatozoa was twofold higher in the cryptic translocation carrier as compared to normal subjects (P < 0.014), suggesting that the rearrangement favored the nondisjunction of chromosome 21. This is the first report associating a pericentromeric cryptic translocation of acrocentric chromosomes with the generation of aneuploidy, supporting the hypothesis that this type of rearrangement may contribute to abnormal chromosomal segregation.


Asunto(s)
Cromosomas Humanos Par 21/genética , Reordenamiento Génico/genética , No Disyunción Genética , Aneuploidia , Estudios de Casos y Controles , Centrómero/genética , Cromosomas Humanos Par 22/genética , Sondas de ADN , Síndrome de Down/genética , Femenino , Marcadores Genéticos , Humanos , Hibridación Fluorescente in Situ , Masculino , Repeticiones de Microsatélite , Linaje , Espermatozoides/citología , Espermatozoides/metabolismo
16.
Rev Invest Clin ; 59(6): 444-8, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-18402336

RESUMEN

We report on a female patient, with a de novo mosaicism for a structural rearrangement producing trisomy 2p21-->pter and monosomy 8p21-pter. GTG bands and fluorescence in situ hybridization (FISH) in lymphocytes identified: mos 46,XX,der(8)(8qter-->8p21::p21::2p21-->pter),9qh +[52]/ 46,XX,9qh+[82]. Fibroblasts showed the same cell lines in 15 and 12 cells respectively. DNA profiling with fourteen autosomal STR markers, did not reveal a chimerism status in our patient. She did not present the classical phenotype described for trisomy 2p and for monosomy 8p probably due to approximately 60% of the patient's cells being normal. The abnormality probably arose in a very early stage of development during the first post-fertilization divisions with a non-sister chromatid exchange event between chromosomes 2 and 8 producing three cellular clones: a normal clone, one with trisomy 2p and monosomy 8p and a third with monosomy 2p and trisomy 8p. Only the first two cell lines were found in both lymphocytes and fibroblasts of hypopigmented skin; the third may have been lost or limited to other tissues.


Asunto(s)
Anomalías Múltiples/genética , Trastornos de los Cromosomas/genética , Cromosomas Humanos Par 2/genética , Cromosomas Humanos Par 8/genética , Monosomía , Mosaicismo , Trastornos Psicomotores/genética , Trisomía , Preescolar , Trastornos de los Cromosomas/patología , Pintura Cromosómica , Cuerpo Calloso/patología , Células Epiteliales/ultraestructura , Femenino , Fibroblastos/ultraestructura , Humanos , Leucocitos/ultraestructura , Trastornos Psicomotores/patología
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