98%
921
2 minutes
20
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1111/jpc.1_15459 | DOI Listing |
Cardiol Res Pract
August 2025
Cardiovascular Research Center, Rajaie Cardiovascular Institute, Tehran, Iran.
Long QT syndrome (LQTS) is an inherited cardiac channelopathy marked by QT interval prolongation and increased risk of life-threatening arrhythmias. While variants in , , and explain most cases, many remain genetically unexplained. This study emphasizes the value of genetic testing in diagnosis and individualized therapy.
View Article and Find Full Text PDFFront Immunol
September 2025
Department of Hematology, Qingdao Women and Children's Hospital, Qingdao, China.
Familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by perforin 1 (PRF 1), is a rare and fatal autosomal recessive disorder characterized by a hyperinflammatory syndrome and the accumulation of activated T lymphocytes and histiocytes in the reticuloendothelial system. Autoimmune lymphoproliferative syndrome (ALPS) is an autoimmune disease that typically presents in children with lymphadenopathy, splenomegaly, and cytopenias or lymphomas. We report a case of a 9-year-old boy who was newly diagnosed with FHL, carrying a new type of compound heterozygous mutations (c.
View Article and Find Full Text PDFBJR Case Rep
September 2025
Department of Orthopaedic Surgery, Yokohama Sakae Kyosai Hospital, Sakae-ku, Yokohama, Kanagawa 247-8581, Japan.
Aneurysmal bone cyst (ABC) is a locally destructive benign tumour-like condition of the bones with blood-filled cystic cavities. The talus is an extremely rare site for an ABC, with <20 reported cases till 2012 based on a PubMed database search. Aneurysmal bone cyst recurrence in the talus after curettage and bone grafting is extremely rare.
View Article and Find Full Text PDFJ Pediatr Health Care
September 2025
Vinay Kukreti, MD, Staff Pediatrician, Lakeridge Health, Pediatrics, Oshawa, ON, Canada; Associate Professor, School of Medicine, Pediatrics, Queen's University, Kingston, ON, Canada. Electronic address:
Juvenile nephronophthisis (NPHP) is the most common genetic cause of pediatric chronic kidney disease (CKD). Its nonspecific findings such as intermittent fatigue, nausea, or vomiting, often delay diagnosis, especially without extra-renal manifestations. This case study reports a 9-year-old boy with a week of acute-on-chronic vomiting, a year of nausea and fatigue, and new onset polydipsia and nocturnal enuresis.
View Article and Find Full Text PDFJ Clin Med
August 2025
Department of Economic, Psychological, Communication, Educational, and Motor Sciences, Niccolò Cusano University, 00166 Rome, Italy.
Developmental dyslexia (DD) is the most common form of specific learning disorders (SLDs). From a neurocognitive point of view, dyslexic reading is associated with atypical neurofunctional patterns in the left hemisphere, mainly in the posterior areas linked to lexical access and phonological processing. Nowadays, rehabilitation treatments do not aim to fix the disorder but rather improve adaptive skills.
View Article and Find Full Text PDF