Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.

Introduction: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), is a neurodegenerative autosomal recessive disease caused by gene variants with a spectrum of classic and atypical phenotypes. The aim of treatment is to slow functional decline as early as possible in an attempt to improve quality of life and survival. This study describes the clinical characteristics as well as the response to treatment with cerliponase alfa.

"Real world effectiveness of cerliponase alfa in classical and atypical patients. A case series".

Introduction: Late infantile neuronal ceroid lipofuscinosis is an autosomal recessive disease caused by mutations in the CLN2/ gene, with secondary enzyme deficiency. In classical phenotypes, initial symptoms include seizures and delayed language development between 2 and 4 years of age. This article describes the presentation of CLN2 disease in a cohort of Colombian patients, as well as the impact of treatment on the course and progression of the disease.

Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive deterioration of neurological functions commonly occurring in children aged 2-4 years and culminating in early death. Atypical cases associated with earlier or later symptom onset, or even protracted course, have already been reported. Such variable manifestations may constitute an additional challenge to early diagnosis and initiation of appropriate treatment.

[Emotional Profile of a Group of Colombian Military Victims of Landmines or Improvised Explosive Devices].

Introduction: Antipersonnel Mines (MAP) and Improvised Explosive Devices (IEDs) are frequently used in Colombia as an armed resource without the need for direct combat. The Department of Antioquia has the highest number of events associated with the detonation of such battle techniques. There are no studies on the psychological effects that appear as a result of accidents with Antipersonnel Mines and IEDs in the military population.

Neodymium nanoparticles: biosynthesis and structural analysis.

Small metallic nanoparticles of neodymium are obtained by a facile route based on the biosynthesis and the pH conditions that demonstrate the possibility of obtaining particles of 1-8 nm. The size is controlled by synthesis conditions. Smaller clusters were obtained with pH = 5, while for pH = 10 evidences of nanorods productions are found and this opens the perspective to use this rare-earth element for zero and one dimensional based applications.

Spatial indoor radon distribution in Mexico City.

We present a spatial analysis of residential radon concentrations in the Mexico City Metropolitan Area, which we intend to use to assign radon exposure in an ongoing case-control study. As part of a probabilistic household survey, carried out between May and June 1999, 501 dwellings were selected for indoor placement of solid state nuclear track detectors (LR 115) in a cup array over a period of approximately 90 days. As part of the sampling design, the city was grid partitioned into nine zones and a sample of dwellings was selected in each zone.

Dosimetric assessment of radon in a vegetable system.

An alpha-dose calculation due to radon uptake in anthers of Tradescantia, clone 4430, has been performed. Probability distribution density of the dose in the pollen mother cells was calculated by means of a model that simulates the interaction of separate alpha-particles with these cells. It is shown that alpha-radiation from either radon or its decay products surrounding the buds does not reach pollen mother cells because of the short-range alpha-particles.

Genetic effects observed in tetrads of Tradescantia induced by radon.

Inflorescences of Tradescantia clone 4430 were exposed to different concentrations of radon (Rn) gas (0.85, 12.10, 36.

Evidence for an effect of exposure to low levels of alpha particle irradiation in larval cells of Drosophila as measured in the wing-spot test.

Larvae of Drosophila were exposed to a range of concentrations of alpha particles from 3 to 318 mRad, and genetic effects measured in the wing-spot test. The results were positive, and evidence of a linear relationship between exposure and response observed. The induction of chromosome breakage is suggested by the significantly higher frequency of twin spots in the treated series compared with controls.

SOS induction by low activity alpha sources: microdosimetric considerations.

The SOS response to alpha-radiation was measured using two Escherichia coli strains with differential repair capabilities. Monolayers of exponentially growing cells, placed on cellulose acetate filters, were exposed to an electrodeposited 252Cf alpha source to total doses from 46 to 165 cGy at a dose-rate of 0.8 cGy/min.