Publications by authors named "L Hornofova"

Article Synopsis
  • Inborn errors of immunity are genetic disorders that lead to immune system issues like deficiencies, autoimmune diseases, and inflammation, identified increasingly through next-generation sequencing, yet treatments remain complicated.
  • This study reports a new autoinflammatory disorder linked to a specific mutation in the HCK gene, characterized by skin and lung inflammation that can lead to serious damage.
  • The mutant HCK shows increased activity and causes heightened immune responses, and treatments with the drug ruxolitinib have shown positive effects in managing the inflammation associated with this condition.
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Objectives: We reviewed a spectrum of congenital heart defects assessed in our center between 1/2010 and 4/2020, evaluated their gross anatomy, assessed the age distribution, evaluated performed surgical procedures, and correlated gross and ultrasound findings.

Methods: All necroptic cases and explanted hearts that underwent specialized cardiac autopsy were included in this study. Autopsy findings including gross description of congenital heart defects together with echocardiographic findings were retrospectively assessed.

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Objectives: The purpose of this study was to evaluate the microscopic structural abnormalities of the ascending aorta in infants with Tetralogy of Fallot (ToF) and compare them with aortic samples from control group of small children that died of other diseases. We aimed at identification of the specific histopathological changes associated with ToF and correlation of the severity of these changes with time to surgery and mean levels of saturation in the ToF group, and age at death in control group.

Methods: The full-thickness ascending aortic wall sample was taken from 23 children with ToF at the time of surgical reconstruction (age spread 2 to 19 months) and evaluated by light microscopy.

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Background: The aim of this prospective study was to assess whether [ F]fluorodeoxyglucose PET can be used to predict histopathological response early in the course of neoadjuvant chemotherapy in patients with adenocarcinoma of the oesophagus and oesophagogastric junction.

Methods: Following the PET response criteria in solid tumours (PERCIST 1.0) as a standardized method for semiquantitative assessment of metabolic response, FDG-PET/CT was performed before (PET1) and after (PET2) initiation of the first cycle of chemotherapy.

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Invasive fungal disease represents one of the severe complications in haematopoietic stem cell transplant recipients. We describe a case of a patient treated for relapse of chronic lymphoblastic leukaemia 6 years after HSCT. The patient was treated for invasive pulmonary aspergillosis but died 3 months later from multiple organ failures consisting of haemorrhagic necrotizing fungal pneumonia, refractory chronic hepatic graft versus host disease and cytomegalovirus hepatitis.

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