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Purpose: To evaluate correlation between terminal ileal (TI) stricture diagnosis at MR enterography (MRE) and ileocolonoscopy (IC) in patients with Crohn's disease (CD).

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Article Synopsis
  • A male newborn was found to have low TREC values, indicating T cell lymphopenia, and genetic testing revealed a mutation linked to Ectrodactyly-Ectodermal Dysplasia-Cleft lip/palate syndrome (EEC).
  • This case underscores the importance of further research on the immune system issues related to mutations in the TP63 gene, suggesting that patients with such mutations should undergo thorough immunological assessments.
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Article Synopsis
  • Pathogenic variants in a specific transcription factor are linked to syndromes like EEC and AEC, and this case report presents an infant with severe T cell lymphopenia, detected during newborn screening.
  • Flow cytometry revealed low levels of CD4+ and almost no CD8+ T cells, while the B and NK cell levels were normal; further genetic analysis identified a particular variant in the transcription factor.
  • Using an artificial thymic organoid system, researchers found that T cell differentiation occurred, implying a thymic defect, leading to the patient receiving an allogenic cultured thymus tissue implant, which showed promising signs of T cell development after 9 months.
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Article Synopsis
  • - Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome affects ectodermal and mesodermal tissues, leading to issues like split hands/feet, ectodermal dysplasia, and orofacial clefting, requiring a multidisciplinary treatment approach.
  • - A case study details a young child with EEC syndrome who developed a peripheral giant cell granuloma (PGCG) in the lower jaw, which was surgically removed and followed up for 24 months with no recurrence.
  • - The findings emphasize the crucial role of dentists in diagnosing and managing oral health issues associated with EEC syndrome.
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