Do human embryos have the ability of self-correction?

Human embryogenesis frequently coinciding with cell division mistakes contributing to pervasive embryonic aneuploidy/mosaicism. While embryo self-correction was elegantly demonstrated in mouse models, human studies are lacking. Here we are witness to human embryos ability to eliminate/expel abnormal blastomeres as cell debris/fragments. Each blastocyst and its corresponding debris were separated and underwent whole genome amplification. Seven of the 11 pairs of blastocysts and their corresponding cell debris/fragments revealed discordant results. Of the 9 euploid blastocysts, four showed euploid debris, while in the others, the debris were aneuploid. In the remaining pairs, the debris showed additional aneuploidy to those presented by their corresponding blastocyst. The observed ability of human embryos to self-correction doubts many invasive and non-invasive preimplantation testing for aneuploidy at the blastocyst stage, rendering high rate of false positive (discarding "good" embryos) by identifying the cell-free DNA originated from the expelled cell debris, as aneuploidy/mosaic blastocyst.

Correlação entre as características do perfil e desenvolvimento sensório-motor de crianças com síndromes genéticas / The correlation between characteristics of the profile and sensory-motor development of children with genetic syndromes / Correlación entre las características del perfil y desarrollo sensorio-motriz de niños con síndromes genéticos

Este trabalho trata-se de estudo transversal cujo objetivo foi verificar correlação entre as características do perfil e desenvolvimento sensório-motor de crianças com síndromes genéticas. Para tal, realizou-se pesquisa entre agosto e dezembro de 2009, com treze portadores de síndromes genéticas que frequentam a Associação Pestalozzi em Goiânia. Os instrumentos utilizados foram:Inventário Portage (IP), Ficha de Avaliação Neurológica Infantil e Gross Motor Function Classification System (GMFCS). Na análise estatística realizou-se teste de correlação de Spearman. Observou-se que quanto maior a idade da criança, maior o grau de incapacidade e nível de classificação funcional (GMFCS) e menor o percentual de desempenho nas áreas do IP. Quanto maior o peso da criança ao nascer, mais precoce a aquisição de habilidades motoras, tais como sentar, engatinhar e ficar em pé. Assim, verifica-se a importância de abordagem global no atendimento à criança, que deve incluir tanto aspectos neurofuncionais como estimulação do desenvolvimento sensório-motor.

This cross-sectional study was performed with the objective to verify the correlation between the characteristics of the profile and sensory-motor development of children with genetic syndromes. A research was performed between August and December of 2009, with 13 patients with genetic syndromes undergoing treatment at Associação Pestalozzi de Goiânia (GO). The instruments used were:Portage Inventory (PI), Children?s Neurology Assessment Form, and Gross Motor Function Classification System (GMFCS). Statistical analysis was performed using Spearman?s correlation test. It was observed that older children had a higher degree of incapacity, higher level of functional classification on the GMFCS, and a poorer performance rate on PI areas. The higher the birthweight, the earlier the child?s need to acquire motor skills, such as sitting, crawling and standing. Therefore, it is important to assess and treat children using a global approach, which should include neurofunctional aspects as well as stimulation for their sensory-motor development.

Estudio transversal que objetivó verificar la correlación entre características del perfil y desarrollo sensorio-motriz de niños con síndromes genéticos. Investigación realizada entre agosto/diciembre 2009, con 13 portadores de síndromes genéticos, pacientes de la Asociación Pestalozzi, Goiânia-GO. Se utilizaron los instrumentos: Inventario Portage (IP), Ficha de Evaluación Neurológica Infantil y Gross Motor Function Classification System (GMFCS). En análisis estadístico se realizó test de correlación de Spearman. Se observó que cuanto mayor es la edad del niño, mayor es el grado de incapacidad, así como es mayor el nivel de clasificación funcional por GMFCS y menor el porcentaje de desempeño en las áreas del IP. A mayor peso de los niños al nacer, más precoz es la adquisición de habilidades motoras, como sentarse, gatear y pararse. En consecuencia, se verifica la importancia de un abordaje global de atención al niño, que debe incluir tanto aspectos neurofuncionales como la estimulación del desarrollo sensorio-motriz.

Evaluación del riesgo de infecciones alimentarias en pacientes internados en un hospital pediátrico de alta complejidad y su sistema de prevención / Risk assesment of food infections in patient in a pediatric tertiary-care hospital and its prevention

The Garrahan Hospital is a tertiary-care center for pediatrics patients with complex diseases. Infections, including food-borne infections, contribute considerably to the morbidity and mortality in this population at risk. In order to prevent food-borne infections, the Foodservice Area has developed a preventive process approach system of Hazard Analysis and Critical Control Point (process approach HACCP) in food production and service. Objective: To conduct a thorough review and assessment of risk from food borne pathogens according to the pathology of patients or the therapeutic practice used, and to standardize food production and service. With the criterion "degree of safety at the time of service" preventive measures were standardized. The food was classified into four levels of process. One or more food levels are indicated according to risk, and if necessary individual adjustments are made.

El hospital Garrahan brinda asistencia a pacientes pediátricos con patologías complejas. Las infecciones, incluidas las alimentarias, contribuyen considerablemente en la morbilidad y mortalidad en esta población en riesgo. Con la finalidad de prevenir infecciones alimentarias, el Área de Alimentación desarrolla un Sistema Preventivo de Análisis de Peligros y Puntos Críticos de Control con enfoque en procesos (HACCP process approach) en la producción y servicio de alimentos. Objetivo: realizar una exhaustiva revisión y evaluación de los patógenos alimentarios de riesgo según patología o práctica terapéutica de los pacientes y estandarizar la producción y servicio de alimentos. Con el criterio "grado de inocuidad al momento del servicio" se estandarizaron las medidas preventivas. La alimentación fue clasificada en cuatro niveles de proceso. A cada grupo de población asistida, según riesgo, se le indica uno o más niveles de alimentación y se realizan los ajustes individuales necesarios.

Natural history and treatment of peripheral inherited neuropathies.

Charcot-Marie-Tooth disease (CMT) is genetically highly heterogeneous. Disease course and severity vary according to CMT type, causative gene, and mutation type, but considerable phenotypic variability may occur also for the same CMT type. Research is focused on possible modifier factors particularly in CMT1A associated with Peripheral Myelin Protein 22 (PMP22) overexpression. Natural history studies are important to define disease course in different CMT types and to allow better assessment of intervention efficacy. Only a few such studies have been carried out, mainly on CMT1A, and described impairment and disability progression. Motor potential amplitudes seem to correlate with disease severity and progression, suggesting that axonal loss is the basis of disability in CMT. There is need to develop suitable and reproducible outcome measures: the CMT Neuropathy Score is the only validated outcome score specific for CMT, but others have been tested during the last few years. Currently there is no effective drug therapy for CMT and supportive treatment is limited to physical therapy, orthotics, surgical treatment of skeletal deformities and soft tissue abnormalities, and symptomatic drug treatment. Research is focused on developing new treatment strategies and approaches. The progesterone antagonist onapristone proved to be effective in a rat model of CMT1A; unfortunately, currently available progesterone antagonists are too toxic to be safely administered to patients. Neurotrophin-3 (NT3), a neurotrophic factor known to promote axonal growth, was tested with favourable results in two animal models and in a pilot study involving eight CMT1A patients. Ascorbic acid (AA) administration to CMT1A mice improved clinical and neuropathological findings, possibly by down-regulating PMP22 through a cAMP mediated mechanism. Clinical trials of AA in the human disease are currently being performed. Curcumin stimulates translocation of misfolded protein from the endoplasmic reticulum and proved useful for selected myelin protein zero and PMP22 mutants in vitro and in the animal models Trembler and TremblerJ.

Three familial cases of Michel's aplasia.

Complete agenesis of the bony labyrinth, first described by Michel, represents the most severe form of inner ear defect. A search of the literature yielded only one report of this rare anomaly, affecting two siblings. Three familial cases of bilateral inner ear aplasia are reported here, and the probable inheritance pattern of this condition is discussed.

Measuring functional status in children with genetic impairments.

One of the consequences of genetic impairments in early childhood is their long-term effect on children's developmental skills in communication, learning, and adaptive behaviors. Functional assessment provides families and clinicians with a common language for describing a child's strengths and limitations in self-care (feeding, dressing, grooming, bathing, continence), mobility, and communication/social cognition. The National Center for Medical Rehabilitation Research described a model of disablement that includes five dimensions: pathophysiology, impairment, functional limitations, disability, and societal limitations. Using this framework, along with the Functional Independence Measure for children, the WeeFIM(R), we describe functional strengths and challenges in children with Down syndrome, spina bifida, congenital limb anomalies, congenital heart disease, urea cycle disorders, severe multiple developmental disabilities, and DiGeorge malformation sequence. We also briefly describe several pediatric functional/adaptive assessment instruments used by developmental professionals (Battelle Developmental Inventory, Vineland Adaptive Behavior Scales, Amount of Assistance Questionnaire). By tracking functional status, health professionals can prioritize secondary and tertiary prevention strategies that optimize self-care, mobility, communication, and learning. When functional limitations interfere with the acquisition of these essential skills, family and community support programs can be maximized.

[A small-group center. A model trial for activities of a center for rare diseases and syndromes at the National Hospital]. / Smågruppesenteret. En modellutprøvning for Rikshospitalets utadrettede virksomhet for noen sjeldne sykdommer og syndromer.

The Centre for Rare Disorders at the National Hospital is a trial project in connection with the Government's Plan of Action for the disabled. The intention is to establish nationwide facilities which in cooperation with local resources can provide both medical, pedagogical and social services for persons with rare disorders and their families. The work at the centre is based on a life span perspective and the goal is improved coping, independence and better quality of life. The centre gathers, adapts and spreads information on 15 rare disorders. Representatives from the user organisations ensure that the users have a strong influence on the management of the centre. It is hoped that systematic evaluation of the centre's activities will give an answer to the Government and to the host hospital as to whether the intentions and goals will be fulfilled or not during the project period.

A professional partnership with genetic support groups.

Voluntary, lay genetic support groups have become important providers of supportive, educational, and social services for clients and families who face genetic disorders. A survey of 88 persons representing genetic support groups confirms that these organizations are providing their members with information and assistance about not only the genetic aspects of the disorders but also problems of daily living. Respondents noted that professionals frequently refer patients to their groups and that many of the groups have professionals working directly with them as guest lecturers, consultants, and advisory board members. At least 20% cited a lack of genetic counseling services for members of their groups as a serious problem and called for greater sensitivity to emotional concerns in the timing and delivery of genetic counseling by professionals. Respondents called for greater collaboration between the voluntary organizations and professionals but underscored the unique benefits of empathy and support from one's peers.