Hypophosphatasemia (HPE) may be temporary (tHPE) in the context of severe diseases, such as sepsis or trauma, or it may persist (pHPE), indicating an adult form of hypophosphatasia (HPP; OMIM 171760), a rare metabolic bone disorder caused by pathogenic nucleotide variants (PNVs) in the . The aim of this study was to analyze the role of auxiliary general biomarkers in verifying low alkaline phosphatase (ALP) serum activity level as an alert parameter for PNVs in the , which are indicative of HPP. In this retrospective analysis, we examined adult patients with an ALP serum activity level below 21 U/L.
View Article and Find Full Text PDFLeukodystrophies are rare genetic white matter disorders that have been regarded as mainly occurring in childhood. This perception has been altered in recent years, as a growing number of leukodystrophies have been described as having an onset in adulthood. Still, many adult patients presenting with white matter changes remain without a specific molecular diagnosis.
View Article and Find Full Text PDFPrevious studies suggested that severe epilepsies, e.g., developmental and epileptic encephalopathies (DEEs), are mainly caused by ultra-rare de novo genetic variants.
View Article and Find Full Text PDFPrevious studies suggested that severe epilepsies e.g., developmental and epileptic encephalopathies (DEE) are mainly caused by ultra-rare genetic variants.
View Article and Find Full Text PDFThe 15q13.3 microdeletion has pleiotropic effects ranging from apparently healthy to severely affected individuals. The underlying basis of the variable phenotype remains elusive.
View Article and Find Full Text PDFObesity represents a major public health problem with a prevalence increasing at an alarming rate worldwide. Continuous intensive efforts to elucidate the complex pathophysiology and improve clinical management have led to a better understanding of biomolecules like gut hormones, antagonists of orexigenic signals, stimulants of fat utilization, and/or inhibitors of fat absorption. In this article, we will review the pathophysiology and pharmacotherapy of obesity including intersection points to the new generation of antidiabetic drugs.
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