The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.

Since the start of X-linked adrenoleukodystrophy (ALD) newborn screening in California, more than half of the diagnosed cases were found to have an ATP binding cassette subfamily D member 1 (ABCD1) gene variant of uncertain significance (VUS). To determine retrospectively the likelihood that these were true positive cases, we used a web-based post-analytical tool in Collaborative Laboratory Integrated Reports (CLIR). Confirmatory plasma very long-chain fatty-acids (VLCFA) profiles for ALD screen positive infant boys were run through the CLIR ALD tool. We compared the distribution by ABCD1 variant classification (pathogenic, likely pathogenic, VUS, and no variant) with the CLIR tool score interpretation (non-informative, possibly ALD, likely ALD, and very likely ALD) and the current case diagnosis. The study showed that CLIR tool positive interpretations were consistent with 100% of the pathogenic and likely pathogenic variants on the ABCD1 gene if a more conservative guideline was used. The tool interpretations were also consistent with screened cases that were determined to not have disease (our no-disorder group). The CLIR tool identified 19 diagnosed ALD cases with VUS to be potential false positives, representing a 40% reduction among all diagnosed ALD cases with VUS. The reduction could be extended to 65% if a more aggressive threshold was used. Identifying such preventable false positives could alleviate the follow-up burden for patients, their families, and California Special Care Centers.

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

Newborn screening for one or more lysosomal disorders has been implemented in several US states, Japan and Taiwan by multiplexed enzyme assays using either tandem mass spectrometry or digital microfluidics. Another multiplex assay making use of immunocapture technology has also been proposed. To investigate the potential variability in performance of these analytical approaches, we implemented three high-throughput screening assays for the simultaneous screening for four lysosomal disorders: Fabry disease, Gaucher disease, mucopolysaccharidosis type I, and Pompe disease. These assays were tested in a prospective comparative effectiveness study using nearly 100,000 residual newborn dried blood spot specimens. In addition, 2nd tier enzyme assays and confirmatory molecular genetic testing were employed. Post-analytical interpretive tools were created using the software Collaborative Laboratory Integrated Reports (CLIR) to determine its ability to improve the performance of each assay vs. the traditional result interpretation based on analyte-specific reference ranges and cutoffs. This study showed that all three platforms have high sensitivity, and the application of CLIR tools markedly improves the performance of each platform while reducing the need for 2nd tier testing by 66% to 95%. Moreover, the addition of disease-specific biochemical 2nd tier tests ensures the lowest false positive rates and the highest positive predictive values for any platform.

Da poesia dita que adormece e da escrita poética chinesa que desperta / Of oral poetry that falls asleep and of Chinese poetic writing that awakens / De la poésie dite que se endort et de l'écriture poétique chinoise que réveille

O texto procura traçar coordenadas iniciais para a compreensão da referência lacaniana a respeito da interpretação com relação à escrita poética chinesa. Para isso, aborda um percurso que passa por uma crítica lacaniana à fala como um dito que adormece, pelo modo de o analista responder a isso com um corte, até chegar a uma discussão que procura indicar uma diferença entre fala e escrita. Diferença fundamental para uma concepção de interpretação analítica pensada a partir da escrita - e, sobretudo, de uma escrita que não é para ser lida - para chegar a um ponto de tornar pensável uma relação entre interpretação analítica e escrita poética, na condição de que esta última compreenda os elementos mínimos de uma escrita poética chinesa.

The text seeks to trace initial co-ordinates for the understanding of the Lacanian reference to interpretation in relation to Chinese poetic writing. To do so, it approaches a path that passes through a Lacanian critique of speech as a saying that falls asleep, a way for the analyst to respond with a cut, until arriving at a discussion that seeks to indicate a difference between speech and writing. A fundamental difference to a conception of analytical interpretation thought from writing - and, above all, a writing that is not to be read - to arrive at a point of making possible a relation between analytical interpretation and poetic writing, provided that the latter understands the minimal elements of Chinese poetic writing.

Le texte cherche à retracer les coordonnées initiales pour comprendre la référence lacanienne concernant l'interprétation par rapport à l'écriture poétique chinoise. Pour cela couvre une route qui passe par une critique lacanienne du discours comme dit que endort, de la façon analytique de répondre avec une coupe, pour arriver à une discussion qui indique une différence entre la parole et l'écriture. Différence fondamentale à une conception de l'interprétation analytique pensée a cause de l'écriture - et surtout, un script qui ne doit pas être lu - pour arriver à un point de faire pensables une relation entre l'interprétation analytique et l'écriture poétique, à condition que ces derniers comprennent les éléments minimums d'une écriture poétique chinoise.

Ainda interpretamos crianças à maneira de Melanie Klein? / Do we still interpret children as Melanie Klein did? / ¿Interpretamos aún a los niños al modo de Melanie Klein?

Este artigo pretende tratar dos principais aspectos do método clínico e interpretativo de Melanie Klein, das críticas mais contundentes que recebeu e, pela pertinência delas, do relativo distanciamento ocorrido entre a rígida postura de Klein e aquela dos kleinianos da atualidade. Após um fecundo exercício de reflexão sobre o furor interpretativo kleiniano, foi possível reconhecer que o brincar, por si só, tem, muitas vezes, o poder de permitir a elaboração de determinadas tramas. Assim, a interpretação saiu do foco central de toda e qualquer sessão e passou a ser utilizada apenas nos casos em que seus recursos técnicos são indispensáveis.(AU)

This article aims to approach the main aspects of the clinical and interpretative method by Melanie Klein, from the most aggressive criticism that she has received and, once they were pertinent, from the relative distance existing between the strict attitude of Klein and the present Kleinian followers. After a fertile reflection exercise on the Kleinian interpretative passion, it is possible to recognize that playing has many times the power of allowing the elaboration of certain plots. This way, interpretation is no longer the central focus of neither all nor any session and has become used just in case its technical resources are essential.(AU)

El artículo tiene la intención de tratar de los principales aspectos del método clínico y de interpretación de Melanie Klein, de las más fuertes críticas que recibió y, por su pertinencia, de la distancia relativa entre la rígida postura de Klein y aquella de los kleinianos en la actualidad. Después de un fructífero ejercicio de reflexión acerca del furor interpretativo, fue posible reconocer que el jugar, por si solo, tiene, muchas veces, el poder de permitir la elaboración de determinadas tramas. Así, la interpretación salió del foco central de toda y cualquiera sesión y pasó a ser usada solamente en los casos en que sus recursos técnicos son indispensables.(AU)

Ainda interpretamos crianças à maneira de Melanie Klein? / Do we still interpret children as Melanie Klein did? / ¿Interpretamos aún a los niños al modo de Melanie Klein?

Este artigo pretende tratar dos principais aspectos do método clínico e interpretativo de Melanie Klein, das críticas mais contundentes que recebeu e, pela pertinência delas, do relativo distanciamento ocorrido entre a rígida postura de Klein e aquela dos kleinianos da atualidade. Após um fecundo exercício de reflexão sobre o furor interpretativo kleiniano, foi possível reconhecer que o brincar, por si só, tem, muitas vezes, o poder de permitir a elaboração de determinadas tramas. Assim, a interpretação saiu do foco central de toda e qualquer sessão e passou a ser utilizada apenas nos casos em que seus recursos técnicos são indispensáveis.

This article aims to approach the main aspects of the clinical and interpretative method by Melanie Klein, from the most aggressive criticism that she has received and, once they were pertinent, from the relative distance existing between the strict attitude of Klein and the present Kleinian followers. After a fertile reflection exercise on the Kleinian interpretative passion, it is possible to recognize that playing has many times the power of allowing the elaboration of certain plots. This way, interpretation is no longer the central focus of neither all nor any session and has become used just in case its technical resources are essential.

El artículo tiene la intención de tratar de los principales aspectos del método clínico y de interpretación de Melanie Klein, de las más fuertes críticas que recibió y, por su pertinencia, de la distancia relativa entre la rígida postura de Klein y aquella de los kleinianos en la actualidad. Después de un fructífero ejercicio de reflexión acerca del furor interpretativo, fue posible reconocer que el jugar, por si solo, tiene, muchas veces, el poder de permitir la elaboración de determinadas tramas. Así, la interpretación salió del foco central de toda y cualquiera sesión y pasó a ser usada solamente en los casos en que sus recursos técnicos son indispensables.

Transferência e criatividade no tempo da análise

O objetivo do artigo é refletir sobre a dimensão criativa da Transferência no Tempo da Análise. Para isso, o autor situa a temporalidade psicanalítica no contexto da visão filosófica do tempo e a articula, de modo particular, com a noção de temporalidade defendida por Heidegger na Analítica Existencial; depois, relaciona a transferência com a interpretação psicanalítica, ressaltando o poder criativo da palavra que, por meio da dialética do dizer e do escutar, está na base da relação transferencial e contratransferencial vividas na análise.

El objetivo del artículo es reflexionar sobre la dimensión creativa de la Transferencia en el tiempo del análisis. Para eso, el autor sitúa la temporalidad psicoanalítica en el contexto de la visión filosófica del tiempo y la articula, de modo particular, con la noción de temporalidad defendida por Heidegger en la “Analítica existencial”; después, relaciona la transferencia con la interpretación psicoanalítica, resaltando el poder creativo de la palabra que, por medio de la dialéctica del decir y del escuchar, está en la base de la relación transferencial y contratransferencial vividas en el análisis.

L’objectif de cet article est de réfléchir sur la dimension créative du Transfert dans le Temps de l’analyse. Pour cela, l’auteur situe la temporalité psychanalytique dans le contexte de la vision philosophique du temps et l’articule, d’une façon propre, avec la notion de temporalité proposée par Heidegger dans l’Analytique Existentielle ; ensuite, il lie le Transfert à l’Interprétation Psychanalytique, mettant en exergue le pouvoir créatif de la parole qui, par le biais de la dialectique du dire et de l’écouter, constitue la base de la relation transférentielle et contre-transférentielle vécue dans l’analyse.

The objective of this article is to explore the creative dimension of transference. The author places psychoanalytic temporality in the context of a philosophical notion of time and, in particular, in relation to the idea of temporality presented by Heidegger in Existential Analysis. The article then relates transference to analytical interpretation, highlighting the creative power of the word, which, through the dialectical mediation of talking and listening, is at the heart of the transferential relationship experienced during analysis.