Results 241 to 250 of about 15,430 (310)

A rare case of tracheobronchopathia osteochondroplastica. [PDF]

Respir Med Case Rep
Sha C, Borczuk A, Lee PC.
europepmc   +1 more source

EXTRASKELETAL OSSIFYING TUMORS

Annals of Surgery, 1941
openaire   +3 more sources

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Surgically Treated Benign Bone Tumors and Tumor-like Conditions in the Pediatric Population-A 10-Year Institutional Experience. [PDF]

Children (Basel)
Gozar H, Derzsi Z, Kovács E, Bara Z, Horváth E, Mezei T.   +5 more
europepmc   +1 more source

Children's Agency in Contact Disputes: Navigating Protection, Participation and Alienation

Child &Family Social Work, EarlyView.
ABSTRACT This article examines how children's agency is framed, constrained and sometimes co‐opted within contested child arrangement proceedings, particularly in the context of alienation and coercive behaviours. Drawing on qualitative interviews with legal professionals in Northern Ireland, the study explores how statutory interventions, though well ...
Mairead McCormack
wiley   +1 more source

Increased Tc-99m MDP Activities in Multifocal Atypical Ossifying Fibromyxoid Tumor. [PDF]

Indian J Nucl Med
Ming H, Chen Y, Sun X, Yu H.
europepmc   +1 more source

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Retrospective clinicopathological analysis of 193 cases of bone and soft tissue tumors in the foot and ankle. [PDF]

Acta Orthop Traumatol Turc
Yıldırım S, Çiftdemir M, Salih O, Ustabaşıoğlu FE, Üstün F, Usta U.   +5 more
europepmc   +1 more source

Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities

Clinical Genetics, EarlyView.
Biallelic SLC20A1 loss‐of‐function variant causes a previously unrecognized multisystem developmental disorder. We report the first homozygous case presenting with tetralogy of Fallot, renal agenesis, polydactyly, and growth impairment. Transcriptome analysis of patient‐derived fibroblasts suggests significant dysregulation of pathways critical for ...
Eugénie Koumakis, Céline Huber, Wendy Chung, Christine Leroy, Pauline Parisot, Regis Gaudin, Mohamad Zaidan, Valérie Cormier‐Daire, Gérard Friedlander, Yoel Hirsch   +9 more
wiley   +1 more source