Results 61 to 70 of about 252,515 (144)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Mortality in Tuberous Sclerosis Complex in the United Kingdom, 2016–2022

Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 457-464, June 2025.
ABSTRACT Background Tuberous sclerosis complex (TSC) is a genetic condition caused by mutations in either TSC1 or TSC2 genes, affecting around two million people globally. This study aims to examine causes of death in TSC and explore factors contributing to mortality in people with TSC in the United Kingdom in recent years following updated management ...
Callum Richard Thomas Kidson, Ne‐Ron Loh, Yasir Ahmed Syed   +2 more
wiley   +1 more source

A Systematic Review and Meta‐Analysis of Oncologic Liver Resections in Low‐ and Middle‐Income Countries: Opportunities to Improve Evidence and Outcomes

Journal of Surgical Oncology, Volume 131, Issue 5, Page 865-878, April 2025.
ABSTRACT Background Patients in low‐ and middle‐income countries (LMICs) are disproportionately affected by liver cancers but there is a lack of understanding of their postoperative outcomes. This study aimed to review the current status of research in LMICs regarding outcomes after oncologic hepatectomy and synthesize the data reported in the ...
Adel H. Khan, Omar Mahmud, Asad Saulat Fatimi, Shaheer Ahmed, Alyssa A. Wiener, Madhuri V. Nishtala, Christopher C. Stahl, Leslie Christensen, Muhammad Rizwan Khan, Patrick B. Schwartz, Syed Nabeel Zafar   +10 more
wiley   +1 more source

Incidental Primary Angiomyolipoma of Ovary: A Rare Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Primary angiomyolipomas of the ovary which are not associated with genetical systemic diseases, particularly tuberous sclerosis, are extremely rare and are more likely to pose diagnostic challenges. This tumor, particularly of epithelioid variant, is more likely to be malignant and can carry a high possibility of metastasizing.
James J. Yahaya, Emmanuel D. Morgan, Veronica Nyakato, Emmanuel Othieno   +3 more
wiley   +1 more source

Clinicopathologic features and outcomes of hepatic inflammatory pseudotumour (IPT) and hepatic IPT‐like lesions

Histopathology, Volume 86, Issue 4, Page 525-535, March 2025.
In this retrospective study of 80 patients with biopsy‐proven hepatic inflammatory pseudotumour (IPT), patients commonly have a history of biliary disease (15%) or prior intraabdominal surgery (24%). Most patients with available clinical follow‐up demonstrated radiologic resolution and/or had repeat negative biopsy; a minority of patients (8%) were ...
Eric D Nguyen, Kwun Wah Wen, Sanjay Kakar, Dana J Balitzer   +3 more
wiley   +1 more source

Primary Hepatic Perivascular Epithelioid Tumor (PEComa) With High Risk of Malignancy: A Case Report

Case Reports in Gastrointestinal Medicine, Volume 2025, Issue 1, 2025.
Perivascular Epithelioid Tumors (PEComas) are predominantly present in uterine or gastric tissues. Liver presentations are uncommon and primary hepatic presentations are extremely rare. This is the case of a 31‐year‐old female patient, with previous diagnosis of hepatic abscess, the patient presented with a one‐month history of abdominal pain and ...
Luis Enrique Quiroga-Hernández, Kharen Alessandra Verjel-Avila, Jerónimo Andrade-Restrepo, Alonso Vera-Torres, Rafael Enrique Andrade-Pérez, Rocío del Pilar López-Panqueva, Poulami Jha   +6 more
wiley   +1 more source

Hepatic angiomyolipoma presenting with chronic epigastric pain: A case report

, 2016
Introduction: Angiomyolipomas primarily arising from the liver are rare. Hepatic angiomyolipoma (HAML) is a rare tumor characterized by the presence of blood vessels, muscle tissue and adipose tissue with only about 300 reported cases to ...
Anthony Relucio Perez, Clarence Yacapin
core   +1 more source

Congenital hepatic angiomyolipoma in a term neonate: Presentation of a rare case and review of the literature

, 2021
Angiomyolipoma (AML) of the liver is a rare benign, mesenchymal neoplasm that is composed of an admixture of blood vessels, smooth muscles, and variable adipose tissue.
Ezeaka, V.C, Oleolo-Ayodeji, K, Adeleke, A.A, Akowundu, K.P, Fajolu, I.B, Ezenwa, B.N, Ihediwa, G.C, Kene-Udemezue, B   +7 more
core  

Case report of a hepatic angiomyolipoma

, 2004
Angiomyolipoma (AML) is a benign mesenchymal tumor that has been frequently reported in the kidney but rarely in the liver. Hepatic AML may be clinically, radiologically and morphologically difficult to distinguish from hepatocellular carcinoma or other ...
Franciosi C., Uggeri F., Colombo G., Bovo G., Romano F., Isella G., Cesana G. C.   +6 more
core   +2 more sources

Diagnostic difficulties and treatment strategy of hepatic angiomyolipoma

, 2017
Based on a large series of histopathologically confirmed hepatic angiomyolipomas, we retrospectively studied the typical diagnostic features of hepatic angiomyolipoma and proposed a treatment strategy for this disease. From December 1997 to December 2007,
Si-Yuan Fu, Si-Yuan Fu, Wei-Gao Hu, Wei-Gao Hu, Ze-Ya Pan, Ze-Ya Pan, C.H. Lai, Eric, Liu, Hui, Gang Huang, Gang Huang, Yee Lau, Wan, Meng-Chao Wu, Meng-Chao Wu, Ai-Jun Li, Ai-Jun Li, Lei, Yin, Wei-Ping Zhou, Wei-Ping Zhou   +10 more
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