The Human Phenotype Ontology in 2024: phenotypes around the world

\ua9 The Author(s) 2023. Published by Oxford University Press on behalf of Nucleic Acids Research. The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

Secondary metabolites from Teucrium polium L. collected in Southern Iran

In this paper a comprehensive phytochemical analysis of the ethanolic extract obtained from a sample of Teucrum polium collected in Southern Iran is reported. Several phenolic components were identified such as flavonoids and phenylethanoid glycosides which together resulted to be the principal components of the extract. In particular, these compounds were cirsilineol (1), apigenin 7-O-rutinoside (isorhoifolin) (2), cirsimaritin (4), diosmetin (5), apigenin (6), cirsiliol (7) and, lastly, poliumoside (3). Their presence may justify, from the phytochemical point of view, the ancient ethnomedicinal uses of this species as antispasmodic, anti-inflammatory, anti-diabetic, hypolipidemic and antirheumatic. Besides these health-promoting compounds, it was yet evidenced a minor presence of neo-clerodane diterpenoids which are, actually, known to possess hepatotoxic properties. In detail, these compounds were 10-β-hydroxy-teucjaponin B (8), picropolin (9) and teupolin I (10). Indeed, their presence underlines the necessity of a more accurate screening for this class of compounds on the raw materials devoted to botanicals and ethno-medicinal uses. Iridoids, considered to be marker compounds for the genus and for the Lamiaceae family, were completely absent in the studied sample, instead. This fact reveals the presence of an intraspecific variability for these metabolites in the studied species

Understanding the measurement properties of the incremental shuttle walk test in patients with severe asthma.

BACKGROUND AND OBJECTIVE: We investigated the repeatability and validity of the incremental shuttle walk test (ISWT) distance compared to peak oxygen uptake (VO2pk ) during maximal incremental cycle ergometer (ICE) and treadmill (ITM) tests in adults with severe asthma. METHODS: Adults with severe asthma, Medical Research Council (MRC) dyspnoea ≥2, were recruited from specialists caring for patients with severe asthma. All participants performed three ISWT (familiarization and two subsequent tests on the same day), an ICE and an ITM in a randomized order, on separate days, to intolerance with expiratory gas analysis. RESULTS: A total of 50 patients (32 females, mean (SD), age: 54 (13) years, forced expiratory volume in 1 s (FEV1 ): 1.9 (0.8) L and body mass index (BMI): 32 (6) kg/m2 ) completed all five tests. The mean (SD) ISWT distance for each test was 400 (156), 418 (142) and 438 (157) m (P = 0.001), respectively. There was a strong correlation between the ISWT distance with VO2pk derived from ITM (r = 0.74, P < 0.001) and ICE (r = 0.75, P < 0.001). CONCLUSION: There was a small increase in the mean ISWT distance on sequential testing. In clinical practice, the coefficient of repeatability and heteroscedasticity need to be considered when assessing whether a true change has occurred within an individual patient. The ISWT has validity compared to VO2pk on both ICE and ITM, but they are not interchangeable

Full-endoscopic technique for anterior cervical discectomy and interbody fusion: 5-year follow-up results of 67 cases

With minimally invasive technique becoming more popular, endoscopic operations such as arthroscopy or laparoscopy have become the standard of care in several other areas. In this study, we evaluated the 5-year follow-up outcomes of anterior cervical (Ahn et al. in Photomed Laser Surg 23:362–368, 2005) discectomy and interbody fusion (ACDF) performed via endoscopic approach. Sixty-seven patients who underwent anterior cervical discectomy and cage fusion performed using endoscopic technique were followed for at least 5 years. We reviewed the clinical and radiographic records of these patients. The postoperative radiographic measures accessed were the anterior intervertebral height (AIH) and the lordosis angle (LDA). Clinical outcomes were determined using the previously validated Japanese Orthopaedic Association (JOA) and the pain visual analog scale (VAS). Patients included had a minimal follow-up period of 5 years and based on the outcomes criteria (JOA, VAS), 86.6% of patients reported excellent or good results. The AIH increased on average 18.7% of the original height (p < 0.01), and the LDA were more physiologic at final follow-up. Of the 67 cases, there was no segmental instability, and the bone fusion rate was 100%. One patient required revision open ACDF due to adjacent segment disc herniation 6 years postoperatively. There were no intraoperative complications, dysphasia or esophageal injury in this study group. It indicated endoscopic technique for ACDF can obtain satisfactory results in patients with cervical disc herniation, cervical myelopathy, or radiculopathy. Compared with a traditional approach, this technique may be associated with less morbidity while improving cosmesis and postoperative recovery. Prospective randomized control trials are needed to directly compare these two procedures