Results 81 to 90 of about 33,512 (212)

Building a precision therapeutics program at a tertiary care children's hospital

Pediatric Investigation, EarlyView.
Luke Hamilton, Heidi Trinkman, Diana Carrasco, Kaitlin Smith, Kelly Vallance, Alejandra Dominguez, Danielle Miller, Megan Gibbs, Anish Ray   +8 more
wiley   +1 more source

The Efficacy of Pharmacotherapy Intervention on Anthropometric Outcomes in Survivors of Childhood Brain Tumors: An Updated Systematic Review and Meta‐Analysis

Obesity Reviews, EarlyView.
ABSTRACT Introduction Many survivors of childhood brain tumors face long‐term adverse health outcomes like obesity. Uncertainties surround the effect of interventions to manage obesity‐related outcomes in survivors of childhood brain tumors. The goal of this updated systematic review and meta‐analysis was to provide the best estimate of the treatment ...
David Hart, Lawrence Mbuagbaw, Joseph Beyene, Marwa Akola, Sarah Burrow, M. Constantine Samaan, Lehana Thabane, Adam Fleming, Donna L. Johnston, Shahrad R. Rassekh, Laura Banfield, Russell J. de Souza   +11 more
wiley   +1 more source

Constipation in adults with neurofibromatosis type 1

Orphanet Journal of Rare Diseases, 2017
Background Neurofibromatosis type 1 (NF1) is an autosomal-dominant disease characterised by symptoms of the skin, eyes, nervous system and bones. A previous study indicated that constipation, large rectal diameters and prolonged colorectal transit times ...
Cecilie Ejerskov, Klaus Krogh, John R. Ostergaard, Janne L. Fassov, Annette Haagerup   +4 more
doaj   +1 more source

A rare case of neurofibromatosis - type 1

Asian Journal of Neurosurgery, 2015
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant familial tumor syndrome. Glioblastoma is a malignant brain tumor but is a rare occurrence in patients with NF1. Here, we report a rare occurrence of glioblastoma in a 60-year-old man with NF1, who presented with headache, neck pain, and gait unsteadiness ...
Varghese, Prithvi, Abdul Jalal, Muhammed Jasim   +1 more
openaire   +3 more sources

Bone absorption and deformity in mandible as initial symptom and manifestation of neurofibromatosis type 1: A case report and literature review

Oral Oncology Reports
Neurofibromatosis type 1 (NF-1) is an autosomal dominant inherited genodermatosis disease and tumor susceptibility syndrome with a prevalence of 1/6000–1/3000 reported in most epidemiological studies and 1/3333–1/2558 in live births.
Lini Deng, Yi Wang, Xianwang Xiang, Chuanjun Chen   +3 more
doaj   +1 more source

Periodontal Disease and Salivary Gland Dysfunction in Neurofibromatosis Type 1: A Case–Control Study

Oral Diseases, EarlyView.
ABSTRACT Objectives Neurofibromatosis type 1 (NF1) presents with diverse systemic and oral manifestations. The aim of this study was to investigate the periodontal status and salivary alterations in NF1 individuals. Methods A total of 38 individuals with NF1 diagnostic criteria were compared with a control group paired by age and sex.
Eloá Borges Luna, Gustavo de Souza Vieira, Flávia Lima Kleinsorgen Motta, Ana Beatriz Oliveira Gambôa, Analúcia Rampazzo Xavier, Rafaela Elvira Rozza‐de‐Menezes, Karin Soares Cunha   +6 more
wiley   +1 more source

Genomic profiling of Mexican patients with B‐cell precursor acute lymphoblastic leukemia reveals clinically significant somatic and potential germline variants

The Journal of Pathology: Clinical Research, Volume 12, Issue 5, September 2026.
Abstract B‐cell precursor acute lymphoblastic leukemia (preB‐ALL) is characterized by pathogenic variants currently used in precision oncology. However, the mutational landscape of Mexican children with preB‐ALL has not yet been thoroughly explored and defined in terms of the clinical significance.
Daniel Martínez Anaya, María del Rocío Juárez‐Velázquez, Ulises Juárez Figueroa, Michael Dean, Consuelo Salas Labadía, Marian Valladares Coyotecatl, Adriana Reyes León, Norma López Santiago, Luis Juárez Villegas, Marta Zapata Tarrés, Patricia Pérez‐Vera   +10 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2151-2156, September 2026.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Malignancy in Neurofibromatosis Type 1

The Oncologist, 2000
Abstract Neurofibromatosis type 1 (NF1) represents a major risk factor for development of malignancy, particularly malignant peripheral nerve sheath tumors (MPNST), optic gliomas, other gliomas, and leukemias. The oncologist will see NF1 patients referred for treatment of malignancy, and should be alert to the possibility of undiagnosed ...
openaire   +2 more sources

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source