Results 291 to 300 of about 532,874 (343)

Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai, Jenny Anne Downs, Helen Margaret Leonard, Laurence James Walsh, Sobia Zafar   +4 more
wiley   +1 more source

The association between the quality and quantity of carbohydrate intake and the size, depth, and Wagner grade of diabetic foot ulcers in patients with type 2 diabetes. [PDF]

PLoS One
Geravand F, Nasli-Esfahani E, Montazer M, Jalalzadeh M, Azadbakht L.   +4 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Phytol nanoemulsions encapsulated alginate hydrogel beads for the protection and management of alcohol-induced gastric ulcer via nitric oxide synthase and NF-κB/IL-6/TGF-β modulation. [PDF]

PLoS One
Ragab TIM, Kassem AM, Abdallah HMI, El Awdan SA, Ammar NM, El Gendy AEG, Aboulhoda BE, Afifi SM, Esatbeyoglu T, Omara EA, Elshamy AI.   +10 more
europepmc   +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

Therapeutic effect of adalimumab in the treatment of intestinal Behçet's disease in children. [PDF]

Front Pediatr
Gao T, Ren X, Han Y, Wang F, Liu B, Fang Y.   +5 more
europepmc   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

The Effect of Platelet Rich Plasma on Wound Healing in Pressure Ulcer Patient Grade III and IV. [PDF]

Int Wound J
Putri AC, Soedjana H, Hasibuan L, Sundoro A, Septrina R, Sisca F.   +5 more
europepmc   +1 more source

Molecular Profiling and Tumor Microenvironment in Sinonasal Mucosal Melanoma as Biomarkers for Enhanced Prognostic Stratification

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Sinonasal mucosal melanoma (SNMM) is a rare and aggressive melanoma subtype with a notably poor prognosis. Despite molecular characterization advances, SNMM remains clinically challenging, highlighting the need for detailed molecular profiling.
Manuel Molina‐Garcia, Maria Jesus Rojas‐Lechuga, Cristobal Langdon, Judit Mateu, Jaume Bague, Teresa Torres, Vinicius G. de Souza, Manuel Bernal‐Sprekelsen, Isam Alobid, Rui Milton Patricio da Silva‐Júnior, Susana Puig   +10 more
wiley   +1 more source

"An Effective Solution to Accelerate the Healing of Complex Ulcers Using Recombinant Human Epidermal Growth Factor (Intralesional Application): A Review". [PDF]

Drug Des Devel Ther
Cacua Sánchez MT, Carillo Bravo CA.
europepmc   +1 more source