Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/MPA.0000000000002223 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report.
J Med Case Rep
January 2025
Department of Orthopaedics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Background: Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation.
View Article and Find Full Text PDFLiver Transplantation for Polycystic Disease: Experience and Results of a Single-Center Series.
Transplant Proc
January 2025
Hepatobiliary Surgery and Liver Transplantation Unit, Cruces University Hospital, Bilbao, Spain; BioBizkaia Research Health Institute, Barakaldo, Bizkaia, Spain. Electronic address:
Polycystic liver disease (PLD) is a hereditary condition, and its symptoms are due to the growth of cysts. Liver transplantation (LT) is the only curative treatment. A retrospective single-center analysis was conducted on the 10 LTs performed for PLD between 2004 and 2023.
View Article and Find Full Text PDFThe effect of exercise and physical activity on skeletal muscle epigenetics and metabolic adaptations.
Eur J Appl Physiol
January 2025
Department of Kinesiology, Health Promotion, and Recreation, University of North Texas, Denton, TX, USA.
Physical activity (PA) and exercise elicit adaptations and physiological responses in skeletal muscle, which are advantageous for preserving health and minimizing chronic illnesses. The complicated atmosphere of the exercise response can be attributed to hereditary and environmental variables. The primary cause of these adaptations and physiological responses is the transcriptional reactions that follow exercise, whether endurance- (ET) or resistance- training (RT).
View Article and Find Full Text PDFAssesment of Salivary and Serum Levels of HBD2 in Patients with Chronic Angioedema.
J Clin Med
December 2024
Department of Pulmology, Special Hospital for Pulmonary Diseases, 10000 Zagreb, Croatia.
: Human β-defensin 2 (HBD2) is a protein that plays an important role in activating the immune system by modulating spinal pathways and the inflammatory response. According to previous research, HBD2 was proven to be important in chronic spontaneous urticaria (CSU) (their values were significantly elevated in CSU patients, with a significant correlation between HBD2 levels and the percentage of peripheral basophils, suggesting that elevated HBD2 levels may be a potential marker of basophil and mast cell activation), which led us to additional research on the HBD2 molecule in isolated chronic angioedema. The aim of this research is to examine HBD2 values in the saliva and serum of patients with isolated angioedema, as a potential biomarker of the disease.
View Article and Find Full Text PDFA Novel Pathogenic Sense Variant in Exon 7 of the HK1 Gene in a Patient with Hexokinase Deficiency and Gilbert Syndrome.
Genes (Basel)
December 2024
Department of Paediatrics Hemato-Oncology and Paediatric Gastroenterology, Pomeranian Medical University, 70-204 Szczecin, Poland.
Background: Hexokinase (HK) deficiency is a rare autosomal recessively inherited disease manifested by chronic nonspherocytic hemolytic anemia. Most patients present with a mild to severe course of the disease (fetal hydrocephalus, neonatal hyperbilirubinemia, severe anemia). We reviewed 37 cases of patients with hexokinase deficiency described so far, focusing on the severity of the disease, clinical presentation, treatment applied, and genetic test results.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!