Results 91 to 100 of about 274,467 (306)

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Analysis of the results of 13 combined pathogen detection in 3966 hospitalised children with acute lower respiratory tract infection

Scientific Reports
Early and accurate identification of infectious pathogens can facilitate appropriate drug use and reduce both the duration and financial burden associated with hospital stays.
Jiming Li, Huifen Zhang, Qunshan Xu, Zhimeng Huang   +3 more
doaj   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Lower Respiratory Tract Infections

, 2012
Lower respiratory tract infections are common and are important in the critical care setting either because they precipitate admission to the critical care unit, e.g. severe viral pneumonia or because they complicate the course of a patient with significant underlying disease or following major surgery, e.g. after multiple trauma.
Humphreys, Hilary, Winter, Bob, Paul, Mical   +2 more
openaire   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Are patient views about antibiotics related to clinician perceptions, management and outcome? A multi-country study in outpatients with acute cough

, 2013
Background: outpatients with acute cough who expect, hope for or ask for antibiotics may be more unwell, benefit more from antibiotic treatment, and be more satisfied with care when they are prescribed antibiotics.
Francis, N.K., Hasse Melbye, Butler, Christopher, GRACE Project Group, Little, P, Verheij, Theo J. M., Francis, N., Nick Francis (475899), Verheij, Theo J.M., Samuel Coenen (397250), Paul Little (475903), Butler, C.C., Goossens, Herman, Nuttall, Jacqui, Kelly, M., Mark Kelly, Little, P., Melbye, H., Goossens, H., Samuel Coenen, Hasse Melbye (475905), Melbye, H, Jacqui Nuttall, Kelly, Mark, Melbye, Hasse, Paul Little, Kerenza Hood, Herman Goossens, Mark Kelly (475900), Herman Goossens (305529), Nuttall, J, Nuttal, Jacqui, Butler, Christopher C., Goossens, H, Hood, K., Little, Paul, Coenen, S, Grace Project Group, x, Jacqui Nuttall (475902), Theo J M Verheij, Verheij, T.J., Theo J. M. Verheij (475904), Verheij, TJ, Francis, Nicholas, Coenen, S., Nuttall, J., Francis, Nick, Nick Francis, Hood, K, Coenen, Samuel, Christopher C Butler, Kerenza Hood (475901), Christopher C. Butler (475906), Kelly, M, Verheij, Th.J.M., Francis, N, Kelly, M.J., Hood, Kerenza, Butler, CC   +58 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Olfactory Bulb Volume Reflects Olfactory Dysfunction and Network Organization: Insights From the Population‐Based Rhineland Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Olfactory dysfunction is common in aging and an early symptom of neurodegenerative diseases, but how structural (olfactory bulb [OB] volume) and functional (olfactory network [OFN] functional connectivity [FC]) brain features interact to shape odor identification ability remains unclear.
Weiyi Zeng, Konstantinos Melas, Santiago Estrada, N. Ahmad Aziz, Monique M. B. Breteler   +4 more
wiley   +1 more source

Female‐Specific Risk of TAS2R Variants in Chronic Rhinosinusitis: A Hospital‐Based Cohort Study From the Taiwan Precision Medicine Initiative

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Bitter taste receptors (T2Rs) function in the innate immune defense of the sinonasal mucosa; however, the genetic association between the TAS2R gene family and chronic rhinosinusitis (CRS) remains understudied in Asian populations.
Rong‐San Jiang, Man‐Wei Hua, I‐Chieh Chen, Yi‐Ming Chen, Shun‐Hung Lin, Kuan‐Yu Lai, Yi‐Chen Chen   +6 more
wiley   +1 more source

Respiratory syncytial virus in pediatric patients admitted to a tertiary center in Amman: clinical characteristics, and age-related patterns

BMC Pediatrics
Background Respiratory syncytial virus (RSV) is a common cause of acute lower respiratory tract infections, particularly in infants and young children during winter.
Montaha Al-Iede, Abdullah Alhouri, Khaled Marwa, Roaa Alnajjar, Mohammad Abuzenah, Bilala Abu-Hussein, Shereen M. Aleidi, Enas AL-Zayadneh, Amirah Daher, Basim Alqutawneh, Lena Sarhan   +10 more
doaj   +1 more source