Results 51 to 60 of about 113,032 (244)

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Factors associated with cardiovascular events after simultaneous liver–kidney transplant from the US Multicenter Simultaneous Liver–Kidney Transplant Consortium

Hepatology Communications, EarlyView., 2022
Abstract Cardiovascular disease is a leading complication after both liver and kidney transplantation. Factors associated with and rates of cardiovascular events (CVEs) after simultaneous liver–kidney transplant (SLKT) are unknown. This was a retrospective cohort study of adult SLKT recipients between 2002 and 2017 at six centers in six United Network ...
Jennifer Jo, Gonzalo Crespo, Dyanna Gregory, Jasmine Sinha, Jiaheng Xie, Min Zhang, John Magee, Pranab Barman, Yuval A. Patel, Aaron Schluger, Kara Walters, Scott Biggins, Natalia Filipek, Giuseppe Cullaro, Randi Wong, Jennifer C. Lai, Gabriel J. Perreault, Elizabeth C. Verna, Pratima Sharma, Lisa B. VanWagner   +19 more
wiley   +1 more source

Effectiveness of a starch thickened infant formula with reduced lactose content, probiotics and prebiotics on quality of life and clinical outcome in infants with regurgitation and/or colic

Frontiers in Nutrition, 2023
BackgroundRegurgitation and colic are quite common in young infants, leading to a reduced quality of life (QoL) and to parental distress. Their management is challenging and aims to effectively reassure and relieve symptoms.
Jean-Pierre Chouraqui, Sandra Brancato, Berenice Delmas, Thierry Hanh   +3 more
doaj   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

The characteristics of collagen‐induced rheumatoid arthritis in macaques and the changes of heart

Animal Models and Experimental Medicine, EarlyView.
The disease progression in CIA macaques was categorized into three stages: IIR (days 14–34): The indicators related to rheumatoid arthritis and the levels of immunoglobulin were all elevated. There was a small amount of joint effusion, edema and mild synovial hyperplasia. No joint swelling was observed by naked eye.
Lei Zhang, Haifeng Jiang, Zhen Xu, Tingyu Dong, Xiaoyi Liu, Shangxue Yan, Jiajie Kuai, Yan Chang, Wei Wei   +8 more
wiley   +1 more source

Does Mouth-Licking In Vampire Bats Serve Other Functions Besides Food Sharing? [PDF]

Animal Behavior and Cognition
Regurgitated food sharing in vampire bats is a cooperative behavior that has garnered scientific interest as an example of reciprocal helping among kin and non-kin. The amount of food given is estimated via the duration of mouth-licking.
Tatyana Sopka, Elizabeth M. George, Gerald G. Carter   +2 more
doaj   +1 more source

Mechanistic Insights Into Photocatalytic Materials for Toxic Pollutants: Environmental Remediation of Personal Care Products

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Photocatalytic materials have emerged as promising solutions for environmental applications due to their ability to degrade organic pollutants under sunlight or artificial light. In this review, recent progress on the photocatalytic materials used for the degradation of pharmaceutical personal care products (PPCPs) in environmental ...
Urvashi Sen, Gunjan Chauhan, Surbhi Soni, Monika Vats, Anand Kumar, Indra Bahadur   +5 more
wiley   +1 more source

A perspective from the Mesozoic: Evolutionary changes of the mammalian skull and their influence on feeding efficiency and high‐frequency hearing

The Anatomical Record, EarlyView.
Abstract The complex evolutionary history behind modern mammalian chewing performance and hearing function is a result of several changes in the entire skeletomuscular system of the skull and lower jaw. Lately, exciting multifunctional 3D analytical methods and kinematic simulations of feeding functions in both modern and fossil mammals and their ...
Julia A. Schultz
wiley   +1 more source