KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Background: (Kinesin Family Member 1C) variants have been associated with hereditary spastic paraplegia and spastic ataxia.

Case Report: We report fraternal twins presenting with cerebellar ataxia and dystonic tremor. Their brain MRI showed a hypomyelinating leukoencephalopathy.

Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Importance: Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset neurodegenerative disorder with a poor prognosis and a median survival of 3 years. However, a significant proportion of patients survive more than 10 years from symptom onset.

Objective: To identify gene variants influencing survival in ALS.

Current and future alternative therapies for beta-thalassemia major.

Beta-thalassemia is a group of frequent genetic disorders resulting in the synthesis of little or no β-globin chains. Novel approaches are being developed to correct the resulting α/β-globin chain imbalance, in an effort to move beyond the palliative management of this disease and the complications of its treatment (e.g.

Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β(A(T87Q))-Globin Gene.

β-globin gene disorders are the most prevalent inherited diseases worldwide and result from abnormal β-globin synthesis or structure. Novel therapeutic approaches are being developed in an effort to move beyond palliative management. Gene therapy, by ex vivo lentiviral transfer of a therapeutic β-globin gene derivative (β(AT87Q)-globin) to hematopoietic stem cells, driven by cis-regulatory elements that confer high, erythroid-specific expression, has been evaluated in human clinical trials over the past 8 years.

Neural foundations and functional specificity of number representations.

Number is a complex category, as with the word "number" we may refer to different entities. First, it is a perceptual property that characterizes any set of individual items, namely its cardinality. The ability to extract the (approximate) cardinality of sets is almost universal in the animal domain and present in humans since birth.

The effect of defasciculating doses of pancuronium and atracurium on succinylcholine neuromuscular blockade.

Background: A defasciculating dose of non-depolarizing muscle relaxant administered prior succinylcholine decrease its side effects including fasciculations and postoperative myalgias; however it is believed that the dosage of succinylcholine should be increased when such a pre-treatment is used.

Objectives: We hypothesized that a defasciculating dose of pancuronium as a pre-treatment could prolong its duration of effect.

Patients And Methods: Forty patients scheduled for elective orthopaedic surgery were consecutively assigned into 5 groups, a first group without pre-treatment (succinylcholine 1 mg/kg) and 4 subsequent groups of pretreatment with atracurium 0.

Methodological requirement to analyze biomechanical postural control mechanisms with two platforms.

In 1996, Winter and colleagues proposed the existence of two postural control mechanisms in both the anteroposterior and mediolateral axes: a bodyweight (loading/unloading) distribution mechanism and a complementary center of pressure location mechanism. To measure the loading/unloading forces under each foot, the feet had to be placed side by side in the mediolateral axis and one foot ahead of the other in the anteroposterior axis. Our first objective was to reexamine the validity of anteroposterior data published with the feet side by side.

miR-96 promotes tumor proliferation and invasion by targeting RECK in breast cancer.

microRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate gene expression in diverse biological processes. The aim of the present study was to investigate the expression pattern of miR-96 in breast cancer and its biological role in tumor progression. The expression levels of miR-96 were analyzed in 38 breast cancer specimens and 6 breast cancer cell lines by quantitative reverse-transcription polymerase chain reaction (qRT-PCR).

The epidemiology of bladder and kidney cancer.

Bladder and kidney cancer together account for about 5% of cancers worldwide, and represent the 9th and 14th most common cancers in terms of absolute numbers, respectively. Our knowledge of these two cancers, however, indicates that they have strikingly different etiology. A number of important occupational, lifestyle and genetic factors have been implicated in bladder carcinogenesis, which have greatly increased our understanding of this disease.

DNA repair by ERCC1 in non-small-cell lung cancer and cisplatin-based adjuvant chemotherapy.

Background: Adjuvant cisplatin-based chemotherapy improves survival among patients with completely resected non-small-cell lung cancer, but there is no validated clinical or biologic predictor of the benefit of chemotherapy.

Methods: We used immunohistochemical analysis to determine the expression of the excision repair cross-complementation group 1 (ERCC1) protein in operative specimens of non-small-cell lung cancer. The patients had been enrolled in the International Adjuvant Lung Cancer Trial, thereby allowing a comparison of the effect of adjuvant cisplatin-based chemotherapy on survival, according to ERCC1 expression.

Contrast medium extravasation injury: guidelines for prevention and management.

Extravasation of contrast material is a well-recognized complication of contrast-enhanced imaging studies. The management of this complication is contentious; therefore, the Contrast Media Safety Committee of The European Society of Urogenital Radiology decided to review the literature and issue guidelines. A comprehensive literature search was carried out.

Autocrine interferon-beta synthesis for gene therapy of HIV infection: increased resistance to HIV-1 in lymphocytes from healthy and HIV-infected individuals.

Objective: To explore the possibility of gene therapy of HIV infection based on the multiple antiretroviral activities of interferon (IFN)-beta.

Design: We introduced into HIV target cells an IFN-beta gene placed under an expression control ensuring a low and constitutive expression, sufficient to confer a permanent antiviral state without impeding normal cell function.

Methods: We transformed, with an efficacy ranging from 20-55%, peripheral blood lymphocytes (PBL) derived from healthy, seronegative donors, and from asymptomatic HIV-infected individuals by the HMB-KbHuIFN beta retroviral vector carrying the human IFN-beta coding sequence driven by a fragment of the murine H-2Kb gene promoter.