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1.
Nucleic Acids Res ; 49(D1): D1207-D1217, 2021 01 08.
Article in English | MEDLINE | ID: mdl-33264411

ABSTRACT

The Human Phenotype Ontology (HPO, https://hpo.jax.org) was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas. For example, the seizure subontology now reflects the International League Against Epilepsy (ILAE) guidelines and these enhancements have already shown clinical validity. We present new efforts to harmonize computational definitions of phenotypic abnormalities across the HPO and multiple phenotype ontologies used for animal models of disease. These efforts will benefit software such as Exomiser by improving the accuracy and scope of cross-species phenotype matching. The computational modeling strategy used by the HPO to define disease entities and phenotypic features and distinguish between them is explained in detail.We also report on recent efforts to translate the HPO into indigenous languages. Finally, we summarize recent advances in the use of HPO in electronic health record systems.


Subject(s)
Biological Ontologies , Computational Biology/methods , Databases, Factual , Disease/genetics , Genome , Phenotype , Software , Animals , Disease Models, Animal , Genotype , Humans , Infant, Newborn , International Cooperation , Internet , Neonatal Screening/methods , Pharmacogenetics/methods , Terminology as Topic
2.
Physiol Int ; 105(4): 325-334, 2018 Dec 01.
Article in English | MEDLINE | ID: mdl-30582339

ABSTRACT

PURPOSE: Gastritis is found to be one of the most common gastrointestinal diseases worldwide. However, current therapeutic agents cause side effects, interaction, and recurrence. Allantoin has anti-inflammatory and wound healing properties. In this study, the therapeutic effect of allantoin has been assessed on the histopathological indices and gastric mucosal barrier of male rats. METHODS: Male rats were equally divided into control, ethanol-induced gastritis, and allantoin groups. The therapeutic groups consisted of gastritis plus 12.5 mg/kg allantoin, gastritis plus 25 mg/kg allantoin, and gastritis plus 50 mg/kg allantoin groups. After 5 days of allantoin administration, the rats were sacrificed and a part of their gastric tissue was maintained at -70 °C for prostaglandin E2 (PGE2) and non-protein sulfhydryl (NP-SH) measurements. Another part was stained with hematoxylin and eosin and Masson's trichrome. RESULTS: We found that Allantoin increased parietal and mucosal cell counts and mucosal thickness after gastritis induction. In addition, the number of leukocytes and vessels decreased in both of the mucosal and the submucosal layers. Allatoin improved gastric ulcer in all treatment groups. Gastric levels of PGE2 and NP-SH increased after allantoin treatment. CONCLUSION: This study indicated that allantoin had a considerable effect on gastritis treatment, which seems to result from the reinforcement of gastric mucosal barrier.


Subject(s)
Allantoin/pharmacology , Anti-Inflammatory Agents/pharmacology , Gastric Mucosa/drug effects , Gastritis/pathology , Animals , Disease Models, Animal , Gastric Mucosa/pathology , Male , Rats , Rats, Wistar
3.
Ergonomics ; 58(7): 1175-90, 2015.
Article in English | MEDLINE | ID: mdl-26062686

ABSTRACT

Apparent mass (AM) responses of the body seated with and without a back support on three different elastic seats (flat and contoured polyurethane foam (PUF) and air cushion) and a rigid seat were measured under three levels of vertical vibration (overall rms acceleration: 0.25, 0.50 and 0.75 m/s(2)) in the 0.5 to 20 Hz range. A pressure-sensing system was used to capture biodynamic force at the occupant-seat interface. The results revealed strong effects of visco-elastic and vibration transmissibility characteristics of seats on AM. The response magnitudes with the relatively stiff air seat were generally higher than those with the PUF seats except at low frequencies. The peak magnitude decreased when sitting condition was changed from no back support to a vertical support; the reduction however was more pronounced with the air seat. Further, a relatively higher frequency shift was evident with soft seat compared with stiff elastic seat with increasing excitation. PRACTITIONER SUMMARY: The effects of visco-elastic properties of the body-seat interface on the apparent mass responses of the seated body are measured under vertical vibration. The results show considerable effects of the coupling stiffness on the seated body apparent mass, apart from those of excitation magnitude and back support.


Subject(s)
Ergonomics/methods , Posture/physiology , Pressure , Protective Devices , Vibration/adverse effects , Acceleration , Adult , Back/physiology , Biomechanical Phenomena , Equipment Design , Female , Humans , Male
4.
Ergonomics ; 56(12): 1806-22, 2013.
Article in English | MEDLINE | ID: mdl-24088118

ABSTRACT

The apparent mass (AM) responses of human body seated on elastic seat, without and with a vertical back support, are measured using a seat pressure sensing mat under three levels of vertical vibration (0.25, 0.50 and 0.75 m/s(2) rms acceleration) in 0.50-20 Hz frequency range. The responses were also measured with a rigid seat using the pressure mat and a force plate in order to examine the validity of the pressure mat. The pressure mat resulted in considerably lower AM magnitudes compared to the force plate. A correction function was proposed and applied, which resulted in comparable AM from both measurement systems for the rigid seat. The correction function was subsequently applied to derive AM of subjects seated on elastic seat. The responses revealed lower peak magnitude and corresponding frequency compared to those measured with rigid seat, irrespective of back support and excitation considered.


Subject(s)
Pressure , Protective Devices , Vibration , Accelerometry , Adult , Body Weight , Female , Humans , Male , Posture , Transducers, Pressure , Young Adult
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