Results 81 to 90 of about 1,216,010 (296)

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 more
wiley   +1 more source

THBS1 identificated as an endometriosis biomarker through evidence from single-cell and bulk transcriptomic profiling

iScience
Summary: Endometriosis affects a substantial number of women of reproductive age, yet current diagnostic methods rely on invasive procedures. To address this limitation, we investigated THBS1 as a potential biomarker and regulator of disease progression.
Liqi Zhang, Junyan Ma, Yuhui Sun, Jue Zhu, Huaqing Yan, Yichen Chen, Jing Zhang   +6 more
doaj   +1 more source

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report

Clinical Case Reports, 2017
Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic ...
Dina F. Ahram, Yasser Al‐Sarraj, Rowaida Z. Taha, Saba F. Elhag, Fouad A. Al‐Shaban, Hatem El‐Shanti, Marios Kambouris   +6 more
doaj   +1 more source

Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study. [PDF]

, 2018
BackgroundThe p.Asn215Ser or p.N215S GLA variant has been associated with late-onset cardiac variant of Fabry disease.MethodsTo expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males ...
Brand, Eva, Burlina, Alessandro, Cecchi, Franco, Garman, Scott C, Germain, Dominique P, Jovanovic, Ana, Kempf, Judy, Laney, Dawn A, Linhart, Aleš, Maródi, László, Nicholls, Kathy, Ortiz, Alberto, Pieruzzi, Federico, Shankar, Suma P, Waldek, Stephen, Wanner, Christoph   +15 more
core   +1 more source

De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder

, 2019
POU3F3, also referred to as Brain-1, is a well-known transcription factor involved in the development of the central nervous system, but it has not previously been associated with a neurodevelopmental disorder.
Au, C., Baker, S., Bergstrom, K., Bodek, S., Brunner, H., Cunniff, C., Dentici, M., Derizioti, P., Faivre, L., Firth, H., Fisher, S., Gilissen, C., Iglesias, A., Izumi, K., Kleefstra, T., Kroes, H., Lachmeijer, A., Leonard, J., Maas, S., Matsumoto, N., Miyake, N., Niceta, M., Okamoto, N., Pfundt, R., Philippe, C., Powis, Z., Shinde, D., Snijders Blok, L., Tang, S., Tartaglia, M., Tayoun, A., Tomkins, S., Van Gassen, K., Venselaar, H., Vitobello, A., Wiel, L., Wojcik, M., Õunap, K.   +37 more
core   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source

Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data

iScience
Summary: Preterm birth (birth before 37 weeks) is a major cause of neonatal mortality and is linked to various health adversities in childhood and adult life. This study investigates the genetic factors contributing to spontaneous preterm birth (sPTB) in
Esha Bhattacharjee, Ramachandran Thiruvengadam, Divyank Varshney, Jagyashila Das, Ayushi, Rishika Maji, Piyali Mondal, Supratim Ghosh, Pragya Tailor, Uma Chandra Mouli Natchu, Nitya Wadhwa, Pallavi Kshetrapal, Shinjini Bhatnagar, Arindam Maitra   +13 more
doaj   +1 more source

Evaluating the role of a galanin enhancer genotype on a range of metabolic, depressive and addictive phenotypes [PDF]

, 2014
Funded by •ERC. Grant Number: 284167 •NIH. Grant Number: 1RO1DK0921127-01 •NWO.
Day, Ian, Farrer, Lindsay A, Gelernter, Joel, Heron, Jon, Hickman, Matthew, Kranzler, Henry R, Lewis, Glyn, MacKenzie, Alasdair, Minica, Camelia, Munafò, Marcus, Richardson, Tom G, Tavare, Jeremy, Vink, Jacqueline M, Wynick, David   +13 more
core   +2 more sources

Enteropathogenic E. coli shows delayed attachment and host response in human jejunum organoid‐derived monolayers compared to HeLa cells

FEBS Letters, EarlyView.
Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi, Pilar Samperio Ventayol, Natalie Burkard, Nicolas Schlegel, Carmen Aguilar, Sina Bartfeld   +5 more
wiley   +1 more source