Netherton syndrome (NS) is a rare autosomal recessive genodermatosis. In this article, we present two siblings with NS who harbour a novel variant in the SPINK5 gene and were treated with infliximab infusions. Both patients exhibited the characteristic clinical triad of NS, and their whole exome sequencing analysis revealed a homozygous variant, c.
View Article and Find Full Text PDFBackground: Children and pregnant women require multiple contacts with the healthcare system. While most conditions can be managed by primary healthcare (PHC) providers, hospitalisations are common. This health system evaluation in Tajikistan quantifies unnecessary and unnecessarily prolonged hospitalisations and assesses antibiotic and polypharmacy practices.
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