Acute myeloid leukemia associated with t(16:21)(p11;q22) in a pediatric patient / Leucemia mieloide aguda asociada con t(16:21)(p11;q22) en un paciente pediátrico

Abstract Background: Rare subgroups of pediatric patients with acute myeloid leukemia (AML), such as t(16:21) (p11;q22), require international cooperation to establish a proper stratification system to assign clinical risk. Case report: Here, we report a 13-year-old female who was admitted for asthenia, fatigue, and intermittent fever. The hematological data showed thrombocytopenia and anemia, and the bone marrow test showed 82.5% blast cells, which were positive for CD13, CD33, CD38, and CD117. Blast cells showed negative myeloperoxidase staining and positive periodic acid-Schiff staining. A diagnosis of AML M6 was made. Cells were positive for the fusion transcript FUS-ERG t(16;21)(p11;q22). The patient achieved morphological remission. However, molecular remission was not achieved, and she died 11 months after diagnosis. Conclusions: It is essential to report this sporadic case of AML to provide clinicians with data for clinical decision-making, such as for risk-group stratification. To the best of our knowledge, this is the first association between this translocation and this morphological subtype.

Resumen Introducción: La leucemia mieloide aguda (LMA) infantil es una enfermedad heterogénea, por lo que existen subgrupos de rara presentación, como aquellos con t(16;21)(p11;q22). Para establecer el riesgo clínico y la estratificación pronóstica adecuada es necesaria la cooperación internacional. Caso clínico: Se reporta el caso de una adolescente de 13 años, admitida por astenia, adinamia y fiebre intermitente. Los datos hematológicos mostraron trombocitopenia y anemia, con un 82.5% de blastos en médula ósea, los cuales fueron positivos para CD13, CD33, CD38 y CD 117. Los blastos fueron negativos para mieloperoxidasa y positivos para ácido peryódico de Schiff. Se realizó el diagnóstico morfológico de LMA M6. Las células fueron positivas para el transcrito FUS-ERG t(16;21)(p11;q22). La paciente alcanzó la remisión morfológica; sin embargo, no fue posible la remisión molecular y falleció 11 meses después del diagnóstico. Conclusiones: Es importante reportar casos en los que se identifique un subtipo muy raro de LMA infantil para incrementar la evidencia clínica y contribuir con elementos que ayuden a tomar decisiones clínicas y lograr la estratificación en grupos de riesgo. Hasta la fecha, este el primer caso reportado en que se asocia el transcrito t(16;21)(p11;q22) con el subtipo morfológico LMA M6.

Practice and thinking of clinical skill training in focused ultrasound surgery / 中华医学教育探索杂志

Focused ultrasound surgery (FUS) technology has been used for clinical treatment more than 20 years. Since 2011, relying on the "high intensity focused ultrasound tumor therapy training base", focusing ultrasound surgeons on the treatment of uterine fibroids, based on the basic theories and skills provided by interns who have just access to the qualification of licensed physicians, the training courses are set such as engineering technology principles, biological effects and mechanisms, micro and non-invasive concepts and clinical thinking, image recognition ability, operation training, and postoperative complications management etc.. After strict quality training and performance evaluation, the initial training of focused ultrasound surgeons has been completed. Moreover, the training object can consolidate learning effect through continuing education in order to acquire stable skills and skills.

The Role of FUS/TLS in the Regulation of Gene Expression and the Correlation with Neurodegenerative Diseases / 昆明医科大学学报

Neurodegenerative diseases are chronic lesions caused by neuronal degeneration and secondary demyelination.Recent studies have shown that a DNA/RNA binding protein named fused in sarcoma/translocated in liposarcoma protein (FUS/TLS) is associated with neurodegenerative diseases,such as amyotrophic lateral sclerosis (ALS),frontotemporal dementia (FTD) and polyglutamine diseases.Mutations or dysfunction in FUS/TLS are responsible for the abnormal processes in the related gene transcription,RNA processing,transportation and translation and are highly correlated with the development of neurodegenerative disease.Discovery and the research of FUS/TLS not only contribute to the understanding of neurodegenerative disease at RNA level,but also provide a new way for the prevention and treatment of neurodegenerative diseases.

A new method for quantifying mitochondrial axonal transport

Axonal transport of mitochondria is critical for neuronal survival and function. Automatically quantifying and analyzing mitochondrial movement in a large quantity remain challenging. Here, we report an efficient method for imaging and quantifying axonal mitochondrial transport using microfluidic-chamber-cultured neurons together with a newly developed analysis package named "MitoQuant". This tool-kit consists of an automated program for tracking mitochondrial movement inside live neuronal axons and a transient-velocity analysis program for analyzing dynamic movement patterns of mitochondria. Using this method, we examined axonal mitochondrial movement both in cultured mammalian neurons and in motor neuron axons of Drosophila in vivo. In 3 different paradigms (temperature changes, drug treatment and genetic manipulation) that affect mitochondria, we have shown that this new method is highly efficient and sensitive for detecting changes in mitochondrial movement. The method significantly enhanced our ability to quantitatively analyze axonal mitochondrial movement and allowed us to detect dynamic changes in axonal mitochondrial transport that were not detected by traditional kymographic analyses.

Prion-like Mechanism in Amyotrophic Lateral Sclerosis: are Protein Aggregates the Key?

ALS is a fatal adult-onset motor neuron disease. Motor neurons in the cortex, brain stem and spinal cord gradually degenerate in ALS patients, and most ALS patients die within 3~5 years of disease onset due to respiratory failure. The major pathological hallmark of ALS is abnormal accumulation of protein inclusions containing TDP-43, FUS or SOD1 protein. Moreover, the focality of clinical onset and regional spreading of neurodegeneration are typical features of ALS. These clinical data indicate that neurodegeneration in ALS is an orderly propagating process, which seems to share the signature of a seeded self-propagation with pathogenic prion proteins. In vitro and cell line experimental evidence suggests that SOD1, TDP-43 and FUS form insoluble fibrillar aggregates. Notably, these protein fibrillar aggregates can act as seeds to trigger the aggregation of native counterparts. Collectively, a self-propagation mechanism similar to prion replication and spreading may underlie the pathology of ALS. In this review, we will briefly summarize recent evidence to support the prion-like properties of major ALS-associated proteins and discuss the possible therapeutic strategies for ALS based on a prion-like mechanism.

Neuropathology of frontotemporal lobar degeneration: a review / Neuropatologia da degeneração lobar frontotemporal: uma revisão

Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile dementia. Three main clinical variants are widely recognized within the FTLD spectrum: the behavioural variant of frontotemporal dementia (bvFTD), semantic dementia (SD) and progressive non-fluent aphasia (PNFA). FTLD represents a highly heterogeneous group of neurodegenerative disorders which are best classified according to the main protein component of pathological neuronal and glial inclusions. The most common pathological class of FTLD is associated with the TDP-43 protein (FTLD-TDP), while FTLD-Tau is considered slightly less common while the FTLD-FUS (Fused in sarcoma protein) pathology is rare. In this review, these three major pathological types of FTLD are discussed.

A degeneração lobar frontotemporal (DLFT) é a segunda principal causa de demência pré-senil. Sob o diagnóstido de DLFT, há três principais diagnósticos clínicos: demência frontotemporal variante comportamental (DFTvc), demência semântica (DS) e a afasia progressiva não Fluente (APNF). A DLFT representa um grupo heterogêneo de desordens degenerativas que são classificadas de acordo com o componente proteico patológico das inclusões neuronais e gliais. A classe patológica mais comum das DLFT é associada com a proteína TDP-43 (DLFT-TDP), seguida pela DLFT-Tau, enquanto a DLFT-FUS é rara. Nesta revisão, nós iremos discutir os três principais subtipos patológicos da DLFT.

Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts / 대한진단검사의학회지

Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to be associated with poor prognosis, young age (median age, 22 yr), and involvement of various subtypes of the French-American-British classification. We report here 2 AML patients with t(16;21)(p11;q22), proved by conventional cytogenetics and/or reverse transcription (RT)-PCR. Erythrophagocytosis by leukemic blasts was observed in both of the cases. One patient was a 24 yr-old male with acute myelomonocytic leukemia. His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. Although he received allogeneic peripheral blood stem cell transplantation after the first remission, he died 9 months after the initial diagnosis due to relapse of the disease and graft-versus-host disease. The other patient was a 72 yr-old male with acute myeloid leukemia without maturation. His karyotype was 45,XY,-16,add(21)(q22) and the presence of t(16;21)(p11;q22) was detected by RT-PCR. He was transferred to another hospital with no more follow-up. We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUS-ERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis.

Imprevisibilidade familiar e suas implicações no desenvolvimento individual e familiar / Family unpredictability and its implications in the familiar and individual development

Definida como uma falta de consistência dos padrões de comportamento familiar e dos sistemas de regulação familiar, a imprevisibilidade familiar surge como um constructo interessante para apreender a forma como a família, e muito particularmente o sub-sistema parental, exerce o seu papel e o seu poder executivo. Pesquisas diversas têm associado maior imprevisibilidade familiar a perturbações do desenvolvimento familiar e do próprio desenvolvimento individual. Este artigo visa apresentar um estudo de validação da Family Unpredictability Scale (FUS), de Lisa Ross e Elizabeth Hill, para Portugal, ao mesmo tempo que discutir o seu valor na discriminação de famílias que técnicos com funções psicossociais diversas identificaram como estando perturbadas no exercício das suas funções familiares. Busca-se também realçar o papel que o nível educacional parece ter na variação do grau de imprevisibilidade familiar; os resultados mostram que são os pais com menor nível educacional que apresentam os mais elevados níveis de imprevisibilidade.

The family unpredictability is defined as a lack of consistency in standards of familiar behaviour and the familiar regulation systems. It is interesting for the understanding of how the family, and particularly the parental subsystem exerts its roles and executive power. Higher family unpredictability has been associated with higher disturbances of the familiar and individual development. This paper presents the validation of a Family Unpredictability Scale (FUS) described by Lisa Ross and Elizabeth Hill, for Portugal. It also evaluates the scale abilities to discriminate families with diverse perturbation levels in psychosocial functions. The lower educational level of parents was associated with higher levels of unpredictability.

La imprevisibilidad familiar es definida como una falta de consistencia en los patrones del comportamiento familiar y de los sistemas de regulación familiar, permitiendo aprender la forma como la familia y el sub-sistema familiar, ejerce su función y su poder ejecutivo. Es asociada una mayor imprevisibilidad familiar con perturbaciones del desarrollo familiar e individual. Presentamos la validación de la Family Unpredietability Seale (FUS), de Lisa Ross e Elizabeth Hill, para Portugal, discutiéndose su valor para discriminar familias, previamente identificadas como estando perturbadas en el ejercicio de sus funciones familiares. También destacamos la relación entre nivel educativo y variación del grado de imprevisibilidad familiar, siendo que padres con menor nivel educativo presentan niveles más elevados de imprevisibilidad.