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Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.
Prenat Diagn
January 2025
Department of Radiology, Guangdong Women and Children Hospital, Guangzhou, China.
Objective: To present the imaging features of Caroli's disease (CD) on prenatal ultrasound and magnetic resonance imaging (MRI).
Methods: This was a retrospective case series of prenatally diagnosed CD between 2017 and 2024. Clinical data from these cases were collected and reviewed.
AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report.
J Med Case Rep
December 2024
Department of Infectious Disease, The Fifth People's Hospital of Wuxi, Affiliated Hospital of Jiangnan University, Wuxi, China.
Background: Caroli's disease, an autosomal recessive, hereditary-related disorder, is a rare disease, in which the diagnosis is based primarily on medical imaging and pathophysiological examinations. It is characterized by intrahepatic cystic dilation or cysts. Hepatic resection of diseased lobes can cure or avoid the risk of malignancy.
View Article and Find Full Text PDFAlveolar Echinococcosis - Diagnostic challenges of a parasitic disease on the rise in Europe - a case report.
Z Gastroenterol
January 2025
Division of Hepatology, Department of Medicine II, Leipzig University Medical Center, Leipzig, Germany.
Article Synopsis
- A 45-year-old man exhibited symptoms of jaundice, abdominal pain, and weight loss, leading to the diagnosis of Caroli syndrome through imaging.
- Subsequent MRI suggested the presence of a mass and bile duct stenosis that raised concerns for cholangiocarcinoma, but serology indicated an echinococcus infection instead.
- The patient ultimately underwent liver surgery, which confirmed the diagnosis of alveolar echinococcosis, emphasizing the challenges in diagnosing this neglected disease, especially in rising incidence areas like Germany.
Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
Nephron
December 2024
Division of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada.
Article Synopsis
- The study focuses on missense variants in the PKHD1 gene, which are linked to varying severity of autosomal recessive polycystic kidney disease (ARPKD), highlighting how different genetic expressions can lead to diverse health outcomes in individuals.
- It presents a case of two adult siblings who share biallelic missense variants but exhibit significantly different health experiences: one suffers from severe kidney complications and requires transplants, while the other maintains nearly normal kidney function into middle age.
- The findings emphasize that specific genetic compositions, particularly those involving hypomorphic variants, may contribute to the inconsistent presentation of symptoms, or "phenotypic discordance," even among siblings.
A retrospective multicenter study of WHO 2021 classification-diagnosed solitary fibrous tumor of the CNS in a population from Lombardy, Italy.
Neurol Sci
October 2024
Pathology Unit, ASST Lecco, Lecco, Italy.
In this retrospective, multicenter study, we collected patients with solitary fibrous tumor-SFT-of the CNS followed in eight hospitals in Lombardia from 2004 to 2019, revising the diagnosis according to the WHO 2021 classification. Clinical data were analyzed at diagnosis and during follow-up. Overall, 57 patients were enrolled, of whom 52.
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