ABSTRACT
Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0) and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.
ABSTRACT
Designing better porous materials for gas storage or separations applications frequently leverages known structure-property relationships. Reliable structure-property relationships, however, only reveal themselves when adsorption data on many porous materials are aggregated and compared. Gathering enough data experimentally is prohibitively time consuming, and even approaches based on large-scale computer simulations face challenges. Brute force computational screening approaches that do not efficiently sample the space of porous materials may be ineffective when the number of possible materials is too large. Here we describe a general and efficient computational method for mapping structure-property spaces of porous materials that can be useful for adsorption related applications. We describe an algorithm that generates random porous "pseudomaterials", for which we calculate structural characteristics (e.g., surface area, pore size and void fraction) and also gas adsorption properties via molecular simulations. Here we chose to focus on void fraction and Xe adsorption at 1 bar, 5 bar, and 10 bar. The algorithm then identifies pseudomaterials with rare combinations of void fraction and Xe adsorption and mutates them to generate new pseudomaterials, thereby selectively adding data only to those parts of the structure-property map that are the least explored. Use of this method can help guide the design of new porous materials for gas storage and separations applications in the future.
ABSTRACT
Many cyanobacteria are able to alter the pigment composition of the phycobilisome in a process called complementary chromatic adaptation (CCA). The regulatory mechanisms of CCA have been identified in Fremyella diplosiphon, which regulates both phycoerythrin and phycocyanin levels, and Nostoc punctiforme, which regulates only phycoerythrin production. Recent studies show that these species use different regulatory proteins for CCA. We chose to study the CCA response of Gloeotrichia UTEX 583 in an effort to expand our knowledge about CCA and its regulation. We found that Gloeotrichia 583 has a CCA pigment response more similar to that of N. punctiforme rather than F. diplosiphon and exhibits none of the CCA-regulated morphological responses seen in F. diplosiphon. Preliminary experiments suggest that Gloeotrichia 583 contains a homolog to the CCA photoreceptor from N. punctiforme but not the CCA photoreceptor from F. diplosiphon. Additionally, two spontaneous mutants lacking phycoerythrin production were identified. Analysis has shown that these mutants contain a transposon-like insertion in the cpeA gene, which encodes the α subunit of phycoerythrin. These results suggest that CCA in Gloeotrichia UTEX 583 is more similar to that of N. punctiforme than it is to F. diplosiphon, a closely related species.
Subject(s)
Adaptation, Physiological/genetics , Cyanobacteria/genetics , Cyanobacteria/radiation effects , DNA Transposable Elements/genetics , Light , Mutagenesis, Insertional/genetics , Operon/genetics , Adaptation, Physiological/radiation effects , Bacterial Proteins/genetics , Bacterial Proteins/metabolism , Cyanobacteria/cytology , Genes, Bacterial/genetics , Molecular Sequence Data , Mutagenesis, Insertional/radiation effects , Mutation/genetics , Phycobiliproteins/metabolism , Pigments, Biological/biosynthesis , Polymerase Chain Reaction , Quantitative Trait, Heritable , Spectrum AnalysisABSTRACT
The hyperventilation syndrome is present in as many as 50% of patients with non-cardiac chest pain. This study evaluated a behavioral treatment of this disorder in three adult females. They had long histories of chest pain and were documented to be free of coronary artery disease. Each subject met the DSM-III-R diagnostic criteria for an anxiety disorder. Following treatment, all subjects showed a marked decrease in the frequency and intensity of chest pain episodes and in the frequency of shortness of breath episodes. Two subjects maintained their progress at one-year follow-up. The results lend support to the efficacy of controlled breathing and relaxation training for the treatment of hyperventilation-related chest pain and to the inclusion of a hyperventilation provocation test in the diagnosis of the syndrome as well as its role in changing cognitions regarding cardiac status. Also discussed is the rationale for treating hyperventilation related chest pain in a medical care setting.
Subject(s)
Behavior Therapy/methods , Chest Pain/therapy , Hyperventilation/therapy , Somatoform Disorders/therapy , Anxiety Disorders/therapy , Arousal , Chest Pain/psychology , Combined Modality Therapy , Female , Humans , Hyperventilation/psychology , Middle Aged , Panic , Relaxation Therapy , Somatoform Disorders/psychology , SyndromeABSTRACT
This case report describes two uncommon manifestations of tuberculosis, meningitis and arthritis, occurring in a patient without pulmonary disease. Difficulties in diagnosis and results of treatment are discussed.
