Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism.

Magnetic Resonance Imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.

Patients And Methods: The present research was a single-center retrospective case-control study.

Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.

Introduction: Normosmic isolated hypogonadotropic hypogonadism (nIHH) is a clinically and genetically heterogeneous disorder. Deleterious variants in over 50 genes have been implicated in the etiology of IHH, which also indicates a possible role of digenicity and oligogenicity. Both classes of genes controlling GnRH neuron migration/development and hypothalamic/pituitary signaling and development are strongly implicated in nIHH pathogenesis.

Specific and sensitive detection tools for pv. corylina, the causal agent of bacterial blight of hazelnut, developed with comparative genomics.

pv. corylina (; formerly pv. corylina) is the causal agent of the bacterial blight of hazelnuts, a devastating disease of trees in plant nurseries and young orchards.

Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation.

Introduction: The development of molecular biology methods and their application in microbial research allowed the detection of many new pathogens that cause urinary tract infections (UTIs). Despite the advances of using new research techniques, the etiopathogenesis of UTIs, especially in patients undergoing dialysis and patients after kidney transplantation, is still not fully understood.

Methods: This study aimed to characterize and compare the composition of the bacterial element of the urinary tract microbiome between the groups of patients undergoing dialysis ( = 50) and patients after kidney transplantation ( = 50), with positive or negative urine culture, compared to healthy individuals ( = 50).