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http://dx.doi.org/10.12779/dnd.2024.23.4.245 | DOI Listing |
Int Med Case Rep J
January 2025
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.
View Article and Find Full Text PDFLiver Int
February 2025
Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
Objectives: This study aimed to evaluate liver involvement in FMF patients at a French tertiary centre for adult FMF.
Cogn Behav Neurol
January 2025
Department of TCM Internal Medicine, Ganzhou Nankang Hospital of Traditional Chinese Medicine, Ganzhou, China.
CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis.
View Article and Find Full Text PDFCureus
December 2024
Neonatology Department, Daniel de Matos Maternity, Coimbra Local Health Unit, Coimbra, PRT.
Monochorionic twin pregnancies carry a risk of perinatal complications due to shared placental anastomoses, which can cause uneven blood distribution and lead to conditions like selective fetal growth restriction (sFGR). This case describes a monochorionic pregnancy complicated by preeclampsia and late-onset sFGR of twin B. Labor was prematurely induced and a 45% weight discordance between the twins was confirmed.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Surgery, Aga Khan Hospital, P.O. Box 2289, Dar Es Salaam, Tanzania; Department of Surgery, Aga Khan University, P.O. Box 38129, Dar Es Salaam, Tanzania.
Introduction: The urachus is a fetal canal that connects the allantois to the bladder and typically obliterates by the 6th month of gestation. Failure of the urachus to obliterate can result in urachal anomalies, which, in rare cases, may undergo malignant transformation.
Case Presentation: We present a case of a 13-year-old female who experienced hematuria, dysuria, and abdominal pain persisting for over 4 months.
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