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The Enigma of Retroperitoneal Fibrosis: Clinical Implications and Diagnostic and Therapeutic Challenges.
Cureus
November 2024
Department of Internal Medicine/Rheumatology, Texas Tech University Health Sciences Center Paul L. Foster School of Medicine, El Paso, USA.
Retroperitoneal fibrosis (RPF) is a rare disease with a nonspecific presentation. RPF can be classified into Idiopathic, the most common, or secondary due to malignancy and various medications resulting in chronic inflammation and fibrosis in the retroperitoneum. The complications arise due to the compression of structures in the retroperitoneum.
View Article and Find Full Text PDFThyroid metastasis of clear renal cell carcinoma: a case report and review of the literature.
Pan Afr Med J
December 2024
Endocrinology and Nutrition Department, Hospital General Universitario Santa Lucía, Murcia, Spain.
The thyroid is a rare site for finding tumor metastases. Renal, colorectal, pulmonary, and mammary origin are the most frequent primary neoplasms. Clinical suspicion, early diagnosis, and active surveillance are important during follow-up.
View Article and Find Full Text PDFPrenatal Diagnosis of Proteus Syndrome: About a Case.
Am J Med Genet A
December 2024
Constitutional Genetics Laboratory, CHU Amiens Picardie, Amiens, France.
Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
View Article and Find Full Text PDFDiagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Orphanet J Rare Dis
December 2024
Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Diamond-Blackfan anemia (DBA) is a rare constitutional inherited bone marrow failure syndrome (iBMF) characterized by progressive severe non-regenerative anemia and congenital abnormalities. Diagnosis is made by identification of a DBA-causing variant, typically in a ribosomal protein gene. More than 99% of patients are diagnosed in the pediatric age, but clinical manifestation may be mild and severe anemia can occur later in the patient's life.
View Article and Find Full Text PDFinterference leading to erroneous identification of a pathogenic variant in Black patients.
Genet Med Open
June 2024
Division of Hematology-Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
This study investigates the frequency of a clinically reported variant in , NM_000535.7:c.2523G>A p.
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