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Results 61 to 70 of about 1,206,149 (284)

Novel Genetic Risk Factor Identified for L‐Asparaginase‐Induced Pancreatitis in Pediatric Patients With Cancer

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background L‐asparaginase is a critical component in treatment protocols for pediatric acute lymphoblastic leukemia. Acute pancreatitis reactions can necessitate delays and, in some cases, discontinuation of L‐asparaginase, which compromises outcomes.
Edward J. Raack +39 more
wiley +1 more source

Outcomes and Surgical Management of Malignant Rhabdoid Tumor of the Kidney: A Report From the Pediatric Surgical Oncology Research Collaborative

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Malignant rhabdoid tumor of the kidney (MRTK) is a rare, aggressive tumor seen in young children. The optimal timing of resection for locally advanced tumors is not well‐defined. The purpose of this study is to evaluate modern oncologic outcomes and the impact of surgical timing. Methods A multicenter retrospective review was performed
Hannah N. Rinehardt +76 more
wiley +1 more source

Geometric properties of jet schemes [PDF]

, 2010
This paper shows how properties of jet schemes relate to those of the singularity on the base scheme. We will see that the jet scheme's properties of being Q-factorial, Q-Gorenstein, canonical, terminal and so on are inherited by the base scheme.Comment:
Ishii, Shihoko
core

MYCN Amplification in RB1‐Inactivated Retinoblastoma: Association With High‐Risk Features

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background MYCN amplification occurs in a subset of retinoblastoma cases, both with and without RB1 inactivation. It has been suggested that retinoblastomas with MYCN amplification represent a distinct entity with more aggressive clinical behavior.
Kyriaki Papaioannou +9 more
wiley +1 more source

Intraoperative Collection of Ascitic Fluid With Intra‐ or Postoperative Reinfusion in Ovarian Cancer: Safety and Feasibility of a Roller Pumping Method

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Patients with ovarian cancer often present with massive ascites, leading to significant protein loss during surgical procedures. Although cell‐free concentrated ascites reinfusion therapy (CART) is used in palliative settings to mitigate protein loss, its application in intraoperative settings remains unexplored.
Yutaka Yoneoka +7 more
wiley +1 more source

Fluctuating salience in those living with genetic risk of motor neuron disease: A qualitative interview study

Health Expectations
Background Motor neuron disease (MND) (also known as amyotrophic lateral sclerosis) is a life‐limiting neurodegenerative condition. In up to 20% of people with MND, a pathogenic variant associated with autosomal dominant inheritance can be identified ...
Jade Howard +4 more
doaj +1 more source

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda +15 more
wiley +1 more source

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

Biomolecules
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated ...
Rebekkah J. Hitti-Malin +59 more
doaj +1 more source

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Case Reports in Genetics, 2022
Background. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants of the GLA gene. Heterozygous female patients may show much more variability in clinical manifestations, ranging from asymptomatic to full-blown ...
Mónica Furlano +8 more
doaj +1 more source

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, EarlyView.
Nicholas A. Borja +8 more
wiley +1 more source

genetics
mutation
de novo

lipodystrophy