Results 111 to 120 of about 1,089,170 (344)

Mieloma Múltiplo e distúrbios da hemostasia Hemostatic abnormalities in Multiple Myeloma

Revista Brasileira de Hematologia e Hemoterapia, 2007
O mieloma múltiplo (MM) é o tumor de células plasmocitárias que corresponde a aproximadamente 10% das neoplasias hematológicas. Durante o seu curso clínico, relata-se que 15-30% dos pacientes podem apresentar manifestações hemorrágicas, decorrentes de ...
Elbio A. D'Amico, Paula R. Villaça
doaj   +1 more source

A Case Showing Multiple Congenital Abnormalities [PDF]

, 1933
A. J. Ballantyne
openalex   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

High‐risk cytogenetic abnormalities in multiple myeloma: PETHEMA‐GEM experience

HemaSphere
This study examines the impact of cytogenetic abnormalities and their co‐segregation on the prognosis of newly diagnosed multiple myeloma patients. The analysis included 1304 patients from four different GEM‐PETHEMA clinical trials.
Veronica González‐Calle, Paula Rodriguez‐Otero, Maria J. Calasanz, Manuela Guijarro, Joaquin Martínez‐López, Laura Rosiñol, Miguel T. Hernández, Ana I. Teruel, Mercedes Gironella, Albert Oriol, Javier de laRubia, Ana P. González‐Rodríguez, Joan Bargay, Felipe deArriba, Luis Palomera, Marta‐Sonia González‐Pérez, Anna Sureda, Enrique Ocio, Juan J. Lahuerta, Joan Bladé, Jesus F. San Miguel, Maria V. Mateos, Norma C. Gutiérrez   +22 more
doaj   +1 more source

A CASE OF BILATERAL BUPHTHALMIA WITH MULTIPLE CONGENITAL ABNORMALITIES IN ONE EYE [PDF]

, 1930
G. G. Penman
openalex   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

NMDAR‐Antibody Encephalitis Diagnosed With Primary Central Nervous System Lymphoma: A Case Series

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT N‐methyl‐D‐aspartate receptor‐antibody encephalitis (NMDAR encephalitis) is one of the most common forms of autoimmune encephalitis, with a paraneoplastic relationship described in approximately 38%. Primary central nervous system lymphoma (PCNSL) is a rare hematologic malignancy that is not often considered as the underlying neoplasm in this ...
Soo Hyun Ahn, Cynthea Prima, Tae Min Kim, Soon‐Tae Lee, Kon Chu   +4 more
wiley   +1 more source

Mucolipidosis III (Pseudo-Hurler Polydystrophy): Multiple Lysosomal Enzyme Abnormalities in Serum and Cultured Fibroblast Cells [PDF]

, 1973
George H. Thomas, Harold A. Taylor, Linda Reynolds, Carol S. Miller   +3 more
openalex   +1 more source

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source

Multiple Leukocyte Abnormalities in Chronic Granulomatous Disease: A Familial Study [PDF]

, 1977
William D Rutenberg, Mei Yang, E. B. Doberstyn, Joseph A Bellanrti   +3 more
openalex   +1 more source