Results 51 to 60 of about 581,861 (308)

Malignant priapism due to penile metastases. Case series and literature review [PDF]

, 2016
Malignant priapism secondary to penile metastases is a rare condition. This term was originally used by Peacock in 1938 to describe a condition of painful induration and erection of the penis due to metastatic infiltration by a neoplasm.
DE DOMINICIS, Carlo, DE LUCA, Francesco, Manzi, Emy, Maurizi, Angela, Ralph, David, Shabbir, Majed, Zacharakis, Evangelos, Zanghì, Antonio   +7 more
core   +2 more sources

The Efficacy and Safety of Bevacizumab/Irinotecan/Temozolomide (BIT) for Relapsed/Refractory Neuroblastoma: The UK Children's Cancer and Leukaemia Group Experience

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Patients with high‐risk neuroblastoma who either are refractory to induction chemotherapy or relapse following multi‐modal treatment have a dismal prognosis. Based on data from the BEACON trial, since 2021 the UK national guidelines recommend bevacizumab, irinotecan, and temozolomide (BIT) for patients with relapsed/refractory ...
Thomas J. Jackson, Menna Shamma, Upeka Senanayake, Shaimaa Sahmoud, Kathleen Duffin, Victoria Howard, David King, Ayesha Fathani, Blanche Lumb, Andrei Pobischan, Irum Latif Memon, Monzir Ahmed, Rhian Thomas, Gerard Millen, Yasmeen Alomari, Sucheta Vaidya, Lynley V. Marshall, Sally L. George, Ramya Ramanujachar, Juliet Gray, Paola Angelini   +20 more
wiley   +1 more source

Orthopaedic manifestations of Proteus syndrome in a child with literature update

Bone Reports, 2015
Background: Proteus syndrome is a rare developmental disorder of unknown aetiology. It is a disorder characterized by postnatal overgrowth affecting multiple tissues. Proteus syndrome is most frequently manifested in skeletal changes.
Tamer Ahmed EL-Sobky, Solaf M. Elsayed, Dalia M.E. EL Mikkawy   +2 more
doaj   +1 more source

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]

, 2019
Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila, Celli, Mauro, Corsini, Serena, D'Eufemia, Patrizia, Gnoli, Maria, Maioli, Margherita, Mordenti, Marina, Pedrini, Elena, Sangiorgi, Luca, Tremosini, Morena, Versacci, Paolo, Zambrano, Anna   +11 more
core   +1 more source

Alveolar Soft Part Sarcoma in Pediatric and Young Adult Patients: A Report From the Children's Oncology Group Study ARST0332

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma occurring most commonly in adolescence and young adulthood. Methods We present the clinical characteristics, treatments, and outcomes of patients with newly diagnosed ASPS enrolled on the Children's Oncology Group study ARST0332.
Jacquelyn N. Crane, Wei Xue, Amira Qumseya, Thomas Scharschmidt, Kathryn R. Tringale, Oscar Lopez Nunez, Jiaqi Hu, Donald A. Barkauskas, Rajkumar Venkatramani, Sheri L. Spunt, Aaron R. Weiss, Noah C. Federman   +11 more
wiley   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review

Frontiers in Endocrinology
We report a rare case of a 60-year-old male patient with X-linked hypophosphatemic rickets (XLH) caused by a PHEX gene mutation complicated with polyostotic fibrous dysplasia (FD).
Shuijin Huang, Anhua Lin, Na Zhang, Wenjing He, Yanan Huo, Chenxiu Wang   +5 more
doaj   +1 more source

Pachydermoperiostosis-Like Disease In Captive Red Ruffled Lemurs (Varecia Variegatus Rubra) [PDF]

, 2011
Pachydermatoperiostosis, a rare form of hypertrophic osteoarthropathy, is of unknown etiology and previously thought limited to humans. The only periosteal reaction previously reported in prosimians is related to renal disease.
Bruce Rothschild, Donald Neiffer, Steve Marks   +2 more
core   +1 more source

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]

, 2018
Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L, Foà, R, Giona, F, Mariani, S, Palumbo, G, Santopietro, M   +5 more
core   +1 more source

Contemporary Approaches for Identifying Rare Bone Disease Causing Genes [PDF]

Bone Research, 2013
Recent improvements in the speed and accuracy of DNA sequencing, together with increasingly sophisticated mathematical approaches for annotating gene networks, have revolutionized the field of human genetics and made these once time consuming approaches assessable to most investigators.
Charles R, Farber, Thomas L, Clemens
openaire   +2 more sources