Meiotic segregation and interchromosomal effect in the sperm of a double translocation carrier: a case report

<p>Abstract</p> <p>Background</p> <p>Infertility is a natural mechanism of selection intended to prevent the delivery of a child with malformations or mental retardation. Male infertility is closely related to chromosomal abnormalities. This study was focused on the analysis of meiotic segregation involving a Robertsonian translocation, 45,XY,der(13;13) [56]/45,XY,der(13;14) [44] and the evaluation of possible interchromosomal effects.</p> <p>Results</p> <p>Hybridisation with LSI 13q14 and subtelomere 14q probes and WCP13 SpectrumGreen and WCP14 SpectrumOrange probes showed a high proportion of unbalanced gametes, corresponding to 71.2% of the spermatozoa. The disomic frequencies of the sexual chromosomes and chromosome 18 of the patient were higher (5.28% and 2.55%, respectively) than those of the control (0.6% and 0.59%, respectively).</p> <p>Conclusion</p> <p>Meiotic segregation studies in sperm are an important tool for genetic counselling of chromosomal aberrations, allowing for a prediction of the risks and consequent implications for the reproductive life. The patient with this rare translocation exhibited meiotic segregation fidelity, and a high rate of unbalanced gametes with disomic spermatozoa.</p

Confiabilidad de un instrumento para clasificar al recién nacido de acuerdo con la complejidad de la atención

Na maioria das maternidades, a classificação, a avaliação e a definição da unidade a encaminhar o recém-nascido (RN) após o nascimento são realizadas pelo médico. A\ud avaliação ocorre na sala de parto considerando: peso ao nascer; idade gestacional;\ud condutas que definem quadro clínico e doença. Este estudo observacional teve\ud como objetivo avaliar a confiabilidade de um instrumento de classificação de RN. A pesquisa foi realizada no berçário de um hospital público, São Paulo. Nove enfermeiras\ud aplicaram o instrumento a 63 RN, sendo duas simultaneamente em cada um dos\ud cinco setores do berçário. Verificou-se que o nível de concordância Kappa entre as enfermeiras foi excelente para a maioria das áreas de cuidado (69,0%). Concluiu-se que houve consenso e concordância das enfermeiras quanto ao instrumento ser completo, de fácil entendimento e aplicável, porém despende muito tempo. As enfermeiras reconhecem a importância do instrumento para o dimensionamento dos profissionais, organização e planejamento do cuidado.In most maternity units, the physician classifies, evaluates, and determines which unit will receive the newborn (NB) after birth. Evaluation occurs in the delivery room, taking into consideration the following factors: birth weight, gestational age, and behaviors that define the clinical picture and disease. This observational study evaluates the reliability of an NB classification instrument. The study was conducted at the nursery of a public hospital in São Paulo. Nine nurses applied the instrument to 63 NB, with two of the nurses working simultaneously in each of the nursery’s fi ve sectors. The Kappa level of agreement among the nurses was found to be excellent for most care areas\ud (69.0%). It was concluded that there was a consensus and agreement among the\ud nurses that the instrument was complete, easy to understand and applicable, but was\ud very time consuming. The nurses recognize the instrument’s importance for the allocation of professionals, organization, and care planning.En la mayoría de las maternidades la clasificación, la evaluación y la definición de la unidad para referir el recién nacido (RN), son realizadas por el médico. La evaluación se realiza en la sala de parto, considerando: peso al nacer, edad gestacional y conductas que definen el cuadro clínico y la enfermedad. Este estudio observacional tuvo como objetivo evaluar la confiabilidad de un instrumento de clasificación del RN. Fue realizada en el servicio de neonatología de un hospital público en Sao Paulo. Nueve enfermeras\ud aplicaron el instrumento a 63 RN, siendo aplicados dos de forma simultánea en los cinco sectores de la unidad neonatal. El nivel de concordancia Kappa fue excelente para la mayoría de las áreas de atención (69,0%). Se concluyó que hubo consenso y\ud concordancia entre las enfermeras, quienes expresaron que el instrumento es completo, fácil de entender y de aplicar, pero se necesita mucho tempo. Las enfermeras reconocen la importancia de este instrumento para dimensionar el número de profesionales, la organización y la planificación de la atención

Associations between health-related quality of life, physical function and fear of falling in older fallers receiving home care

Falls and injuries in older adults have significant consequences and costs, both personal and to society. Although having a high incidence of falls, high prevalence of fear of falling and a lower quality of life, older adults receiving home care are underrepresented in research on older fallers. The objective of this study is to determine the associations between health-related quality of life (HRQOL), fear of falling and physical function in older fallers receiving home care

Randomized, double-blind, placebo-controled clinical trial of sublingual immunotherapy in natural rubber latex allergic patients

<p>Abstract</p> <p>Background</p> <p>Natural rubber latex allergy is a common and unsolved health problem. Since the avoidance of exposure is very difficult, immunotherapy is strongly recommended, but before its use in patients, it is essential to prove the efficacy and safety of extracts.</p> <p>The aim of the present randomised, double-blind, placebo-controlled clinical trial was to assess the efficacy and tolerability of latex sublingual immunotherapy in adult patients undergoing permanent latex avoidance.</p> <p>Methods</p> <p>Twenty-eight adult latex-allergic patients (5 males and 23 females), with mean age of 39 years (range 24-57) were randomized to receive a commercial latex-sublingual immunotherapy or placebo during one year, followed by another year of open, active therapy. The following outcomes were measured at baseline and at the end of first and second year of follow-up: skin prick test, gloves-use score, conjunctival challenge test, total and specific IgE, basophil activation test, and adverse reactions monitoring.</p> <p>Results</p> <p>No significant difference in any of the efficacy <it>in vivo </it>variables was observed between active and placebo groups at the end of the placebo-controlled phase, nor when each group was compared with their baseline values at the end of the two year-study. An improvement in the average percentage of basophils activated was observed. During the induction phase, 4 reactions in the active group and 5 in the placebo group were recorded. During the maintenance phase, two patients dropped out due to pruritus and to acute dermatitis respectively.</p> <p>Conclusion</p> <p>Further studies are needed to evaluate latex-sublingual immunotherapy, since efficacy could not be demonstrated in adult patients with avoidance of the allergen.</p> <p>Trial registration number</p> <p><a href="http://www.anzctr.org.au/ACTRN12611000543987.aspx">ACTRN12611000543987</a></p

A falls prevention programme to improve quality of life, physical function and falls efficacy in older people receiving home help services: study protocol for a randomised controlled trial

BACKGROUND: Falls and fall-related injuries in older adults are associated with great burdens, both for the individuals, the health care system and the society. Previous research has shown evidence for the efficiency of exercise as falls prevention. An understudied group are older adults receiving home help services, and the effect of a falls prevention programme on health-related quality of life is unclear. The primary aim of this randomised controlled trial is to examine the effect of a falls prevention programme on quality of life, physical function and falls efficacy in older adults receiving home help services. A secondary aim is to explore the mediating factors between falls prevention and health-related quality of life. METHODS: The study is a single-blinded randomised controlled trial. Participants are older adults, aged 67 or older, receiving home help services, who are able to walk with or without walking aids, who have experienced at least one fall during the last 12 months and who have a Mini Mental State Examination of 23 or above. The intervention group receives a programme, based on the Otago Exercise Programme, lasting 12 weeks including home visits and motivational telephone calls. The control group receives usual care. The primary outcome is health-related quality of life (SF-36). Secondary outcomes are leg strength, balance, walking speed, walking habits, activities of daily living, nutritional status and falls efficacy. All measurements are performed at baseline, following intervention at 3 months and at 6 months' follow-up. Sample size, based on the primary outcome, is set to 150 participants randomised into the two arms, including an estimated 15-20% drop out. Participants are recruited from six municipalities in Norway. DISCUSSION: This trial will generate new knowledge on the effects of an exercise falls prevention programme among older fallers receiving home help services. This knowledge will be useful for clinicians, for health managers in the primary health care service and for policy makers