Results 161 to 170 of about 178,919 (265)

Pediatric hereditary angioedema presenting as recurrent episodic abdominal pain and vomiting: Challenges in diagnosis and management

JPGN Reports, EarlyView.
Abstract Recurrent episodic abdominal pain and vomiting, with symptom‐free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions. We present the challenging diagnostic odyssey
Julio Nestor Busaniche, Jhoanna Valery Adauto Luizaga, Maria Soledad Arcucci, Claudio Alberto Salvador Parisi, Judith Cohen Sabban, Agustina Venditti, Valentina Riveros, Giancarlo Testa, Veronica Busoni   +8 more
wiley   +1 more source

Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16. [PDF]

Hum Mutat
Malfatti E, Caramizaru A, Trentin F, Dumitrescu A, Sali L, Bastian A, Lee H, Tajsharghi H, Verebi C, Nectoux J, Leturcq F, Phadke R, Sarkozy A, Manzur A, Fodil R, Dobrescu A.   +15 more
europepmc   +1 more source

Nail Disorders in Systemic Conditions

JEADV Clinical Practice, EarlyView.
ABSTRACT Nail findings in children can be indicative of an underlying systemic disease. Many of these findings are seen in multiple entities and are not specific to one disease. The importance of specifically examining for these nail changes cannot be overstated.
Jane Sanders Bellet
wiley   +1 more source

A Family Exhibiting Autosomal Dominant Inheritance of Multiple Acyl-Coenzyme A (CoA) Dehydrogenase Deficiency (MADD) Disease. [PDF]

Int J Mol Sci
Baldo F, Genova E, Capaci V, Marrone I, Balasan N, Bianco AM, Zupin L, Bruno I, Bonati MT, Celsi F.   +9 more
europepmc   +1 more source

A Novel FAM83H Truncation Mutation Disrupts Enamel Mineralization in Autosomal Dominant Hypocalcified Amelogenesis Imperfecta. [PDF]

Clin Exp Dent Res
Wang Y, Chen H, Lai J, Huang X, Huang Y.
europepmc   +1 more source

Integrative genetic and functional analysis of autosomal dominant hearing loss in 108 multigenerational families. [PDF]

J Mol Med (Berl)
Oziębło D, Leja ML, Gan N, Bałdyga N, Toliat MR, Budde BS, Skarżyński H, Ołdak M.   +7 more
europepmc   +1 more source

MEK Inhibitor Associated Airway Injury in an Infant With Noonan Syndrome: A Case Report

The Laryngoscope, EarlyView.
An infant with Noonan syndrome treated with trametinib developed extensive mucosal sloughing of the upper and lower airway, followed by severe supraglottic scarring. Clinicians should consider airway toxicity as a potential adverse effect of MEK inhibitor therapy.
Veronica Drozdowski‐Nuccio, Rachel D. Yoon, Steven Tomasi, Dana M. Thompson, Inbal Hazkani   +4 more
wiley   +1 more source

Identification of genetic modifiers of autosomal dominant Alzheimer's disease: a genome-wide association study. [PDF]

Lancet Neurol
Patel M, Feng W, Mckay NS, Millar PR, Liu M, Yang C, Cetin A, Johnson M, Budde J, Western D, Marsh TW, Saliu IO, Gordon BA, Guerra JJL, Morris JC, Bateman RJ, McDade E, Holtzman DM, Ryan NS, Benzinger TLS, Renton AE, Goate AM, Ibanez L, Sung YJ, Zhao G, Cruchaga C, Pottier C, Dominantly Inherited Alzheimer Network.   +27 more
europepmc   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Vulnerability of the locus coeruleus-entorhinal cortex white matter tract in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Koops EA, Giudicessi A, Baena A, Martinez L, Bonillas-Felix N, Medrano R, Dutta J, Gonzalez I, Alvarez S, Aguillon D, Quiroz YT, Jacobs HIL.   +11 more
europepmc   +1 more source