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Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1910
Abstract: DeSanto‐Shinawi syndrome is a rare neurodevelopmental disorder caused by loss‐of‐function variants of WAC, located on chromosome 10p12.1. This syndrome is characterized by dysmorphic facial features, intellectual disability, and behavioral problems.
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Keywords:
comparison patients;
desanto shinawi;
shinawi syndrome;
syndrome ... See more keywords
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Published in 2020 at "International Orthopaedics"
DOI: 10.1007/s00264-020-04715-6
Abstract: SARS-CoV-2 pandemic left a deep mark in the health systems around the globe, leading to an important change in the way we intend the access to the healthcare and its fruition. Hospitals faced something unexpected,…
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Keywords:
covid;
affected sars;
patients affected;
sars cov ... See more keywords
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Published in 2019 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-019-05426-4
Abstract: PurposeThe aim of this study is to analyze the efficacy of a new modified pharyngoplasty technique with barbed sutures: barbed suspension pharyngoplasty (BSP).MethodsWe enrolled patients affected by obstructive sleep apnea–hypopnea syndrome (OSAHS), having the main…
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Keywords:
lateral pharyngeal;
pharyngoplasty;
barbed suspension;
patients affected ... See more keywords
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Published in 2020 at "Supportive Care in Cancer"
DOI: 10.1007/s00520-020-05563-1
Abstract: Stringent measures have been taken to contain COVID-19 spread, limiting access only for urgent visits, surgery procedures, or hospitalizations and using teledermatology services for non-urgent cases. Management of oncological patients affected by chemo-, immune-, and…
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Keywords:
oncological patients;
mucosal adverse;
cutaneous mucosal;
management oncological ... See more keywords
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Published in 2018 at "Clinical Rheumatology"
DOI: 10.1007/s10067-018-4129-8
Abstract: This cross-sectional investigation examined the prevalence and severity of dysphonia, globus pharyngeus, and dysphagia in patients affected by immunomediated (IM) diseases. Seventy subjects were administered the Voice Handicap Index (VHI) (scale 0–4), Glasgow-Edinburgh Throat Scale…
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Keywords:
answers score;
dysphagia;
immunomediated diseases;
patients affected ... See more keywords
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Published in 2017 at "Journal of Neuro-Oncology"
DOI: 10.1007/s11060-017-2517-6
Abstract: Optic pathway glioma (OPG) represents the most common central nervous system tumor in children with Neurofibromatosis type-1 (NF1). Although overall survival is usually good, no clear prognostic factors have been identified so far. We assessed…
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Keywords:
cohort unselected;
unselected patients;
natural history;
patients affected ... See more keywords
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Published in 2020 at "Asian journal of psychiatry"
DOI: 10.1016/j.ajp.2020.102198
Abstract: The Medication Adherence Rating Scale (MARS) is a fast, non-intrusive way of measuring adherence to medication in order to improve the management of patients with schizophrenia. The current cross-sectional study evaluated the reliability of the…
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Keywords:
schizophrenia episodic;
medication adherence;
affected schizophrenia;
medication ... See more keywords
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Published in 2017 at "Clinical Genitourinary Cancer"
DOI: 10.1016/j.clgc.2016.12.027
Abstract: &NA; Given the increasing interest in the possible role of the neutrophil‐to‐lymphocyte ratio (NLR) as an easily available oncologic marker for upper tract urothelial cancer (UTUC), we sought to quantify the prognostic effect of this…
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Keywords:
upper tract;
neutrophil lymphocyte;
lymphocyte ratio;
patients affected ... See more keywords
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Published in 2019 at "Contemporary Clinical Trials Communications"
DOI: 10.1016/j.conctc.2019.100324
Abstract: Background Lymph node involvement is a fundamental prognostic factor in head and neck squamous cell carcinoma (SCC). Lymph node yield (LNY), which is the number of lymph nodes retrieved after neck dissection, and lymph node…
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Keywords:
lymph;
study;
ratio;
patients affected ... See more keywords
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Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.04.005
Abstract: BACKGROUND Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients…
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Keywords:
phenotype;
phenotype patients;
mucolipidosis;
patients affected ... See more keywords
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Published in 2017 at "Oral oncology"
DOI: 10.1016/j.oraloncology.2017.10.004
Abstract: OBJECTIVES The aim of our work was to report on the clinical outcome of a moderately hyprofractionated radiotherapy regimen in elderly patients affected by head and neck squamous cell carcinoma (HNSCC). MATERIAL AND METHODS HNSCC…
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Keywords:
neck squamous;
affected head;
radiotherapy;
elderly patients ... See more keywords