Results 41 to 50 of about 1,512 (149)

Muscle Changes in Critically Ill Children Following an Early Progressive Exercise in the Paediatric Intensive Care Unit: A Pre‐ and Post‐Intervention Study

Nursing in Critical Care, Volume 31, Issue 3, May 2026.
ABSTRACT Background Most critically ill children in the paediatric intensive care unit (PICU) are immobilised. Prolonged immobilisation in the PICU negatively affects children's physical health outcomes. Aim The aim of the study was to evaluate the effectiveness of an early progressive exercise (EPE) intervention to improve the PICU‐acquired muscle ...
Shaodan Qi, Yuxia Yang, Jing Hu, Weijie Shen, Hao Zhou, Jos M. Latour, Weiming Chen, Ying Gu   +7 more
wiley   +1 more source

Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report

BMC Nephrology, 2020
Background Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail ...
Filippo Pinto e Vairo, Pavel N. Pichurin, Fernando C. Fervenza, Samih H. Nasr, Kevin Mills, Christopher T. Schmitz, Eric W. Klee, Sandra M. Herrmann   +7 more
doaj   +1 more source

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

American 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, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

CDG due to Defective Membrane Transporters: Update

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Congenital disorders of glycosylation are genetic defects in the glycoprotein and glycolipid glycan assembly and attachment. Some 200 CDG have been reported since the first clinical description in 1980. Most CDG are enzymatic deficiencies, but 13 (6.5%) are defects in the ER, Golgi apparatus (GA), and plasma membrane transporters.
D. Quelhas, C. R. Ferreira, J. Jaeken
wiley   +1 more source

Open and arthroscopic deepening trochleoplasty improves post‐operative outcomes: A systematic review of the literature reveals lack of comparability between techniques

Knee Surgery, Sports Traumatology, Arthroscopy, Volume 34, Issue 1, Page 34-51, January 2026.
Abstract Purpose Deepening trochleoplasty improves outcomes in patients with trochlear dysplasia. The aim of this systematic review was to present the outcomes after open thin‐flap, open thick‐flap and arthroscopic deepening trochleoplasty. Methods A systematic review was conducted using the PRISMA guidelines.
Signe Høj, Johanne Kofoed Lundegaard, Lars Blønd, Peter Lavard, Anke Simone Rechter, Christian Dippmann, Kristoffer W. Barfod   +6 more
wiley   +1 more source

Nail-patella syndrome with infertility in a 38 year old Saudi male: A case report

Journal of Dermatology and Dermatologic Surgery, 2016
Nail-patella syndrome (NPS) which also known as hereditary osteo-onychodysplasia is a rare autosomal-dominant disorder characterized by a classic clinical tetrad of changes in the nails, knees, elbows and the presence of iliac horns.
Nada Al-Ghamdi
doaj   +1 more source

Mycophenolate Mofetil–Associated Atypical Posterior Reversible Encephalopathy Syndrome With Anterior Circulation Involvement and Tetraparesis

Case Reports in Medicine, Volume 2026, Issue 1, 2026.
Introduction Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiologic entity characterized by acute neurologic symptoms and vasogenic edema on neuroimaging, classically involving the parieto‐occipital regions. Atypical distributions and presentations can occur, particularly in the setting of immunosuppression.
Smriti Kochhar, Benjamin Walters, Kanishk Aggarwal, Shane Kinard, Rohit Jain, Poulami Jha   +5 more
wiley   +1 more source

A dominant-negative mutation of mouse Lmx1b causes glaucoma and is semi-lethal via LDB1-mediated dimerization [corrected].

PLoS Genetics, 2014
Mutations in the LIM-homeodomain transcription factor LMX1B cause nail-patella syndrome, an autosomal dominant pleiotrophic human disorder in which nail, patella and elbow dysplasia is associated with other skeletal abnormalities and variably nephropathy
Sally H Cross, Danilo G Macalinao, Lisa McKie, Lorraine Rose, Alison L Kearney, Joe Rainger, Caroline Thaung, Margaret Keighren, Shalini Jadeja, Katrine West, Stephen C Kneeland, Richard S Smith, Gareth R Howell, Fiona Young, Morag Robertson, Rob van T' Hof, Simon W M John, Ian J Jackson   +17 more
doaj   +1 more source

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Trisomy 8 mosaicism (T8M) syndrome is a rare aneuploidy condition affecting 1/25,000–50,000 live births. Affected individuals have highly variable phenotypes from very mild dysmorphism to severe structural anomalies caused by chromosomal mosaicism and possibly undetected molecular aberrations. The utilization of chromosome microarray analysis (CMA) and
Zakia Abdelhamed, Daniel Dykas, Autumn DiAdamo, Hongyan Chai, Deqiong Ma, Michele Spencer-Mazon, Yong-Hui Jiang, Jiadi Wen, Allen Bale, Peining Li, Hui Zhang, Richa Sharma   +11 more
wiley   +1 more source

ULTRASONOGRAPHY OF THE CARTILAGINOUS PATELLA IN PEDIATRIC PATIENTS: A CASE SERIES [PDF]

Acta Ortopédica Brasileira
Objective: To analyze cases with clinical suspicion of patellar abnormalities, before ossification of the patella and to characterize the spectrum of abnormalities of the cartilaginous infantile patella by ultrasonography.
Leila Pereira Tenório, José Batista Volpon, Marcello Henrique Nogueira-Barbosa   +2 more
doaj   +1 more source