Results 151 to 160 of about 7,289,232 (294)

International consensus recommendations for identifying malnutrition in children with neurological impairment

Developmental Medicine &Child Neurology, EarlyView.
Abstract Children with neurological impairment (CNI) are at increased risk of malnutrition because of functional, medical, and socioeconomic challenges. However, difficulties in obtaining reliable anthropometric measurements and differences in body composition limit the usefulness of conventional nutritional indicators.
Sarah Vermilyea, Jodi Wolff, Gina Rempel, Jessie M. Hulst, Koen Huysentruyt, Mandy Neudecker, Denise Kennedy, Valérie Marchand, Erika Ochoa‐Ortiz, Richard D. Stevenson, Promoting International Collaboration for Nutrition in Neurological Impairment in Children (PICNNIC) Working Group, Lucinda Lourens, Mark Conaway, Tejas S. Desai, Mercedes Ruiz Brunner, Nathalia Sanchez Vargas, Valeria Martinez Tenorio, Kristie L. Bell, Claudio Romano, Richard Grossberg   +19 more
wiley   +1 more source

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review. [PDF]

J Intellect Disabil Res
Poprelka K, Stavrogianni K, Tsalouchidou PE, Stefanatou M, Verentzioti A, Alexoudi A, Bonakis A, Gatzonis S.   +7 more
europepmc   +1 more source

Fragile X syndrome without CCG amplification has an FMR1 deletion

, 1992
We describe a patient with typical clinical features of the fragile X syndrome, but without cytogenetic expression of the fragile X or an amplified CCG trinucleotide repeat fragment.
Baker Elizabeth G, Gross Baerbel, Manca Antonella, Sutherland Grant R, Robinson Hazel M, Gedeon Ági Kyra, Poustka Annemarie Marie, Partington Michael W, Mulley John C, Yu Sui, Korn Bernhard   +10 more
core  

Weight Regain After Incretin Treatment: The Lean Mass Deficit Hypothesis and a Role for Testosterone Combination Therapy in Men

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background Glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs), dual glucose‐dependent insulinotropic polypeptide (GIP)/GLP‐1RA and triple (GIP)/GLP‐1RA/glucagon agonists achieve placebo‐subtracted weight loss of 15% to 22%. Their long‐term value depends on how well the weight loss is maintained and on the composition of weight loss, not only
Michael Zitzmann, Zsolt Bosnyak, Richard Jones, Monica Caliber   +3 more
wiley   +1 more source

Neuropsychiatric Outcomes Associated With GLP‐1 Receptor Agonist Use in Medicare Beneficiaries With Type 2 Diabetes: Variation by Treatment Pattern and Obesity Status

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aims Glucagon‐like peptide‐1 (GLP‐1) receptors are expressed in brain regions governing mood, reward and stress, yet the neuropsychiatric effects of GLP‐1 receptor agonist (GLP‐1 RA) therapy remain poorly characterized. We estimated associations between GLP‐1 RA use and neuropsychiatric disorders and variation by obesity status and treatment ...
Seo Hyon Baik, Fitsum Baye, Haotian Xian, Kin Wah Fung, Clement J. McDonald   +4 more
wiley   +1 more source

Selective autophagy pathways in ageing and neurodegeneration: Emerging roles for mitophagy and nucleophagy

The FEBS Journal, EarlyView.
As we age, cells gradually accumulate damage, which can contribute to disease and neurodegeneration. This review explores how two cellular recycling processes, mitophagy and nucleophagy, remove damaged mitochondria and nuclear material, respectively, to maintain cell health and long‐term neuronal homeostasis.
Maria Markaki, Nektarios Tavernarakis
wiley   +1 more source

Advancing Standardization in Fragile X Syndrome Molecular Diagnosis: A Dual-Structured and Scoping Review. [PDF]

Children (Basel)
Sallum BT, de Figueiredo MGC, Haddad MEO, Santos WS, Cordeiro ML.   +4 more
europepmc   +1 more source

RLIM‐associated neurodevelopmental disorders: From clinical spectrum to molecular mechanisms

The FEBS Journal, EarlyView.
RLIM (RNF12) is an E3 ubiquitin ligase essential for mammalian development. Loss‐of‐function variants cause Tønne–Kalscheuer syndrome, while duplications cause Xq13 duplication syndrome, highlighting RLIM dosage sensitivity. This review summarizes the genetics, clinical features, and molecular mechanisms of RLIM‐associated disorders, integrating ...
Madison Landon, Kyra Swildens, Vera M. Kalscheuer, Cristina Gontan, Francisco Bustos   +4 more
wiley   +1 more source

Phenotypic variability of Fragile-X syndrome in Asian population: A systematic review. [PDF]

Intractable Rare Dis Res
Napitupulu CLM, Tengkawan J, Utari A, Winarni TI, Sihombing NRB.   +4 more
europepmc   +1 more source

Rare Bleeding Disorders and Bleeding Disorder of Unknown Cause: Current Understanding and Recent Developments

Haemophilia, EarlyView.
ABSTRACT Rare bleeding disorders (RBDs) represent a diverse group of inherited conditions involving coagulation factors or platelets. These conditions, such as Glanzmann thrombasthenia (GT) or severe coagulation factor deficiencies, are uncommon. In contrast, bleeding disorder of unknown cause (BDUC) is a diagnosis of exclusion without an identifiable ...
Alessandro Casini, Robert Klamroth, Bauke Haisma, Dino Mehic, Saskia E. M. Schols   +4 more
wiley   +1 more source