Publications by authors named "C Schuetz"

Background: The development of minimally invasive continuous glucose monitoring systems (CGMs) has transformed diabetes management. CGMs have shown clinical significance by improving time in the euglycemic range, decreasing rates of hypoglycemia, and improving HbA1c. In Rwanda, CGMs are currently not in routine use, and no clinical studies of CGM use were identified in the literature.

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  • Activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) is a rare genetic disease that disrupts the immune system, causing various symptoms that usually begin in childhood.
  • In a phase III clinical trial, a drug called leniolisib was shown to effectively reduce lymph node swelling and increase naïve B cell levels in both adolescents and adults with APDS compared to those given a placebo.
  • The study found that leniolisib was well-tolerated across age groups and suggests it could be a promising treatment option for managing APDS by addressing the underlying cause rather than just the symptoms.
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Background: Research for personalised therapies concerning the Systemic Inflammatory Response Syndrome (SIRS) in children involves the utilisation of OMICS technologies and Artificial Intelligence (AI).

Methods: To identify specific ethical challenges through the perspective of healthcare professionals, we conducted 10 semi-structured interviews. The development of interview questions for the interviews was preceded by a systematic review of the scientific literature.

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  • The GA4GH Phenopacket Schema, released in 2022 and approved as a standard by ISO, allows the sharing of clinical and genomic data, including phenotypic descriptions and genetic information, to aid in genomic diagnostics.
  • Phenopacket Store Version 0.1.19 offers a collection of 6668 phenopackets linked to various diseases and genes, making it a crucial resource for testing algorithms and software in genomic research.
  • This collection represents the first extensive case-level, standardized phenotypic information sourced from medical literature, supporting advancements in diagnostic genomics and machine learning applications.
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  • The study examines a female carrier of a genetic mutation in the IKBKG gene, which is linked to conditions like ectodermal dysplasia and ectodermal dysplasia and immunodeficiency in males and incontinentia pigmenti (IP) in females, leading to a condition called NEMO-NDAS, characterized by autoinflammatory symptoms.
  • Researchers used various techniques, including RT-PCR and nanopore sequencing, to analyze gene expression and protein levels in the patient and her mother compared to healthy controls.
  • Findings revealed that the patient exhibited autoinflammatory symptoms without immunodeficiency, attributed to a non-skewed X-inactivation, alternative splicing of the IKBKG gene, and increased levels of
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