Results 171 to 180 of about 296,757 (381)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Idiopathic Cardiomyopathy in Children [PDF]

, 1963
Daniel K. Bloomfield, Jerome Liebman
openalex   +1 more source

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source

Prolonged Neuropsychiatric Disability and Cardiomyopathy in Acute Intermittent Porphyria [PDF]

, 1960
M. D. Eilenberg, B. A. Scobie
openalex   +1 more source

Identification of ferroptosis‐related genes involved in chronic obstructive pulmonary disease based on bioinformatics analysis

Animal Models and Experimental Medicine, EarlyView.
The design of the entire paper. Green part represents the bioinformatics analysis approach. Yellow part represents the ideas of animal experiment. Abstract Background Chronic obstructive pulmonary disease (COPD) is a type of chronic respiratory disease.
Xuejing Luan, Jinghui Xie, Lu Zhang, Xiao Ma, Lichangtian Jiao, Jie Zhu   +5 more
wiley   +1 more source

The Ultra Low Frequency Force Ballistocardiograph in Acute Cardiomyopathy [PDF]

, 1967
Brendan Phibbs, CHARLES R. LOWE, Roy W. Holmes   +2 more
openalex   +1 more source

Development of an efficient mice model of cancer‐associated cardiac cachexia

Animal Models and Experimental Medicine, EarlyView.
This work establishes a preclinical framework for targeting ubiquitin pathways to mitigate the morbidity of cancer‐related cardiopathy. Our integrated approach delineates a hierarchical progression from subcellular dysfunction to macroscopic cardiac deterioration. These findings mechanistically link tumor‐induced cachexia to cardiac dysfunction through
Shijie Xiong, Huiting Zheng, Teng Wu, Jing Tan, Tongsheng Huang, Conghui Shen, Yuanjun Ji, Mengying Liu, Junhong Wan, Weibin Cai   +9 more
wiley   +1 more source

Effects of low-dose amiodarone and Betaloc on the treatment of hypertrophic cardiomyopathy complicated with malignant ventricular arrhythmias [PDF]

, 1969
Yu Gao, Zhang Peisheng, Xue Liang
openalex   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, EarlyView.
Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical, and genetic disease mechanisms with a resulting emphasis on ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source