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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Cost-Effectiveness of Oral Immunotherapy Treatments vs No Treatment for Peanut Allergy in Children

The first peanut oral immunotherapy (OIT) for children was approved by the US Food and Drug Administration (FDA) in 2020. While clinical efficacy is established, evidence on cost-effectiveness-whether the benefits outweigh the costs and adverse effects-remains limited. A variant of OIT, known as probiotic and peanut OIT (PPOIT), has shown similar efficacy in trials.

‘How I cook with no kitchen’: An investigation of how #microapartment kitchens are depicted on TikTok

Physical constraints of small apartment kitchens and the influence of the surrounding community food environment may impact food practices of apartment residents. Social media portrayal of these features may influence public perception of apartment living.

Mandatory vaccination and no fault vaccine injury compensation schemes: An identification of country-level policies

Countries that mandate childhood vaccination without providing no fault compensation schemes could be seen as abrogating the social contract

No relationship between autistic traits and salivary testosterone concentrations in men from the general population

The current data add to the increasing evidence for the lack of relationship between autistic traits and postnatal levels of testosterone in men

No evidence for impaired humoral immunity to pneumococcal proteins in Australian Aboriginal children with otitis media

Conserved vaccine candidate proteins from S.pneumoniae induce serum and salivary antibody responses in Aboriginal and non-Aboriginal children with history of OM

No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene

The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children

WA health experts say junk food and sugary drink sponsorships have no place in sport

WA’s peak public health and medical experts have united in their call to end the sponsorship of sport by junk food companies.

Detecting genotyping error using measures of degree of Hardy-Weinberg disequilibrium - art. no. 5

Tests for Hardy-Weinberg equilibrium (HWE) have been used to detect genotyping error, but those tests have low power unless the sample size is very large.