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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFUnderstanding Mental Health as a Public Health Issue.
Obstet Gynecol Clin North Am
March 2025
Recruiting Retention & Development, Maternal-Fetal Medicine Attending, Division of Maternal-Fetal Medicine, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY, USA. Electronic address:
Mental health disorders impose a significant burden on individuals and society, with far-reaching implications that extend beyond personal suffering to substantial economic costs. Public health initiatives have traditionally focused on conditions like obesity and infectious diseases, but public mental health has only recently received comparable attention. This review explores the critical role of public mental health.
View Article and Find Full Text PDFLeflunomide-induced drug reaction eosinophilia systemic symptoms and haemophagocytic lymphohistiocytosis overlap syndrome with rheumatoid arthritis.
BMJ Case Rep
January 2025
Department of Infectious Diseases, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome and haemophagocytic lymphohistiocytosis (HLH) are rare but severe immune-mediated diseases with overlapping clinical manifestations. We present a case of a woman in her late 40s with rheumatoid arthritis who developed DRESS/HLH overlap syndrome after starting hydroxychloroquine and leflunomide therapy. Despite corticosteroid treatment, her condition worsened, necessitating etoposide therapy.
View Article and Find Full Text PDFPostpartum pyogenic sacroiliitis masquerading as sciatic neuropathy.
BMJ Case Rep
January 2025
Department of Orthopedics, SDM College of Medical Sciences and Hospital, Shri Dharmasthala Manjunatheshwara University, Dharwad, Karnataka, India.
Low back pain is common in women, especially during pregnancy and puerperium. Septic sacroiliitis, a rare cause of back pain in the postpartum period can mimic other common causes of low back pain like muscle strain, urinary tract infection, pelvic inflammatory disease, endometritis and intervertebral disc prolapse. The proximity of the sacroiliac joint to the sacral nerve plexus results in septic sacroiliitis frequently presenting with symptoms mimicking intervertebral disc prolapse.
View Article and Find Full Text PDFVentriculitis incidence and outcomes in patients with aneurysmal subarachnoid hemorrhage: a prospective observational study.
Crit Care Sci
January 2025
Department of Neurointensive Care, Instituto Estadual do Cérebro Paulo Niemeyer - Rio de Janeiro (RJ), Brazil.
Objective: To define the incidence of ventriculostomy-associated infections and their impact on the mortality and functional outcomes of patients with aneurysmal subarachnoid hemorrhage.
Methods: We prospectively included all consecutive adult aneurysmal subarachnoid hemorrhage patients admitted to the neurological intensive care units of the Instituto Estadual do Cérebro Paulo Niemeyer (Rio de Janeiro, Brazil) and Hospital Cristo Redentor (Rio Grande do Sul, Brazil) who required external ventricular drains from July 2015 to December 2020. Daily clinical and laboratory variables were collected at admission and during the hospital stay.
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