• Title/Summary/Keyword: Subphenotype

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Prevalence of Dental Anomalies in Patients with Non-syndromic Cleft Lip with or without Cleft Palate

  • Jisu Oh;Soyeon Bak;Hyeonheon Lee
    • Journal of the korean academy of Pediatric Dentistry
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    • v.51 no.1
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    • pp.66-79
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    • 2024
  • This study aimed to assess the prevalence and distribution pattern of dental anomalies in the permanent teeth of patients with non-syndromic cleft lip with or without cleft palate. Additionally, it aimed to compare differences in dental anomalies between cleft and non-cleft areas, considering gender and cleft phenotype. Panoramic radiographs of 164 patients diagnosed with non-syndromic orofacial clefts were retrospectively analyzed by a single examiner to confirm dental anomalies. The dental anomalies investigated included tooth agenesis, supernumerary teeth, microdontia, rotation, ectopic eruption, and enamel hypoplasia. Cleft phenotypes were categorized into 7 types based on medical and dental records. A significantly higher prevalence of supernumerary teeth was observed in males than females within non-cleft areas (p = 0.017), with no significant differences in other dental anomalies. In non-cleft area, patients with cleft palate exhibited a high prevalence of tooth agenesis (p < 0.0001) and microdontia (p = 0.012) compared to other cleft phenotypes. Maxillary incisor rotation was closely associated with adjacent tooth agenesis in unilateral cleft lip and palate cases (p = 0.034). This study suggests that the additional subphenotype based on dental anomalies in patients with orofacial cleft may serve as applicable clinical markers.

Subphenotypes of Acute Respiratory Distress Syndrome: Advancing towards Precision Medicine

  • Andrea R. Levine;Carolyn S. Calfee
    • Tuberculosis and Respiratory Diseases
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    • v.87 no.1
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    • pp.1-11
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    • 2024
  • Acute respiratory distress syndrome (ARDS) is a common cause of severe hypoxemia defined by the acute onset of bilateral non-cardiogenic pulmonary edema. The diagnosis is made by defined consensus criteria. Supportive care, including prevention of further injury to the lungs, is the only treatment that conclusively improves outcomes. The inability to find more advanced therapies is due, in part, to the highly sensitive but relatively non-specific current syndromic consensus criteria, combining a heterogenous population of patients under the umbrella of ARDS. With few effective therapies, the morality rate remains 30% to 40%. Many subphenotypes of ARDS have been proposed to cluster patients with shared combinations of observable or measurable traits. Subphenotyping patients is a strategy to overcome heterogeneity to advance clinical research and eventually identify treatable traits. Subphenotypes of ARDS have been proposed based on radiographic patterns, protein biomarkers, transcriptomics, and/or machine-based clustering of clinical and biological variables. Some of these strategies have been reproducible across patient cohorts, but at present all have practical limitations to their implementation. Furthermore, there is no agreement on which strategy is the most appropriate. This review will discuss the current strategies for subphenotyping patients with ARDS, including the strengths and limitations, and the future directions of ARDS subphenotyping.