Results 121 to 130 of about 54,719 (217)

Pancreatic Neuroendocrine Tumor Leading to a Diagnosis of Multiple Endocrine Neoplasia Type 1

open access: yesDEN Open, Volume 6, Issue 1, April 2026.
ABSTRACT Pancreatic neuroendocrine neoplasms are rare but occasionally encountered. They are generally highly vascularized solid tumors, often round in shape with clear boundaries, defined contours, and a homogeneous internal structure. However, they can also present with atypical features, such as cystic degeneration, hemorrhage, calcification, and ...
Noriyuki Hirakawa   +9 more
wiley   +1 more source

Socially oriented attention in young children with neurofibromatosis type 1: An eye‐tracking study

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 4, Page 541-548, April 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70050 Abstract Aim To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls). Method Forty‐five preschool children were studied cross‐sectionally (mean age [SD] = 4 
Kristina M. Haebich   +6 more
wiley   +1 more source

Interventions supporting the empowerment of parent carers of children with neurodisability and other long‐term health conditions: A scoping review

open access: yesDevelopmental Medicine &Child Neurology, Volume 68, Issue 4, Page 489-500, April 2026.
This scoping review identified 145 different interventions designed to support parent carer empowerment. These interventions have been catalogued and are presented in an interactive, online database. Abstract Aim To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people ...
Jim Reeder   +7 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

How Far Can we Go? Managing Moyamoya Syndrome in a 3‐Year‐Old With Thalassemia Major: A Rare Pediatric Case From Nepal

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Moyamoya syndrome (MMS) is a rare progressive cerebrovascular disorder causing stenosis of intracranial arteries and collateral vessel formation. Pediatric presentations often include ischemic strokes, and coexisting Thalassemia Major may worsen vascular outcomes.
Kshitiz Parajuli   +8 more
wiley   +1 more source

Neurofibromatosis type 1

open access: yes, 2021
null Aditi Venkatesh, MBBS   +1 more
  +5 more sources

Spontaneous Hemothorax in a Patient with Neurofibromatosis Type 1: A Case Report

open access: yesپزشکی بالینی ابن سینا, 2019
Background: Neurofibromatosis type1 (NF-1) is a hereditary autosomal dominant disease that is accompanied by complications, such as benign and malignant tumors and vascular involvement, including pulmonary hypertension, artery stenosis, and pulmonary ...
Zohreh Kahramfar, Oldooz Aloosh
doaj  

Plexiform neurofibroma

open access: yes
Journal of the European Academy of Dermatology and Venereology, EarlyView.
Francisco Martins   +1 more
wiley   +1 more source

Macroglossia Due to Symmetrical Lipomatosis of the Tongue: A Rare Presentation of Madelung's Disease—Case Report

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
Symmetrical lipomatosis of the tongue is a rare manifestation of Madelung´s disease, characterized by diffuse, non‐encapsulated adipose tissue growth. We present the first reported Latin American case of a 58 year old patient treated with symmetrical bilateral glossectomy which preserved tongue functionality and significantly improved quality of life ...
Daniela Salamanca‐Ramirez   +2 more
wiley   +1 more source

Unraveling a Hidden Mass: A 10‐Year Mystery of Groin Swelling Reveals an Unexpected Diagnosis of Neurofibroma

open access: yesClinical Case Reports, Volume 14, Issue 3, March 2026.
Unravelling a Hidden Mass: Case of 70‐year‐old female presenting with 10‐year history of painless groin swelling. Intraoperative discovery revealed an unexpected neurofibroma. ABSTRACT This case presents the perplexing journey of a 70‐year‐old woman with a decade‐long history of painless, gradually enlarging left‐side groin swelling.
Alaa Tajeldeen Habeeb Abdallah   +6 more
wiley   +1 more source

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