Results 121 to 130 of about 234,277 (395)

Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore, Gianmichele Migaleddu, Pei‐Chien Tsai, Antonella Fogli, Maria Adelaide Caligo, Gabriele Siciliano, Mirco Cosottini, Yi‐Chung Lee, Yi‐Chu Liao, Michelangelo Mancuso, Roberto Ceravolo, Daniela Frosini   +11 more
wiley   +1 more source

Oropharyngeal Dysphagia and Aspiration Pneumonia Following Coronavirus Disease 2019: A Case Report

Dysphagia (New York. Print), 2020
Cranial nerve involvement is a finding often observed in patients infected with severe acute respiratory syndrome coronavirus 2 during the pandemic outbreak of coronavirus disease 2019 (COVID-19).
Y. Aoyagi, Miho Ohashi, Reisuke Funahashi, Y. Otaka, E. Saitoh   +4 more
semanticscholar   +1 more source

Palliative stenting for oesophagogastric cancer: tumour and host factors and prognosis [PDF]

, 2018
Objectives: Palliative self-expandable metallic stent (SEMS) insertion is common in patients not suitable for resection of oesophagogastric (OG) cancer. Factors which may determine survival, however, are not clear.
Glen, Paul, McMillan, Donald C., Park, James H., Woodley, Niall   +3 more
core   +1 more source

Prenatal Brain Abnormalities in Sodium‐Dependent Multivitamin Transporter Deficiency

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT In treatable neurometabolic disorders, early diagnosis and prompt initiation of treatment are key to improved survival and outcomes. Biallelic variants in SLC5A6 cause sodium‐dependent multivitamin transporter deficiency (OMIM # 618973), which is treatable with high‐dose pantothenic acid, biotin, and alpha lipoic acid.
Eri Ogawa, Kenjiro Kosaki, Toshiki Takenouchi   +2 more
wiley   +1 more source

Factors Associated with Choking During Meals; a Risk Indicator for Repetitive Fevers in the Elderly Community [PDF]

, 2017
Background: Choking during meals is a common symptom in the elderly, however the factors associated with it have not been fully clarified. In this study, we examined the factors associated with choking during meals.
Nagata, E. (Emi), Nishiyama, T. (Takeshi), Oho, T. (Takahiko)   +2 more
core   +3 more sources

Long-term subjective outcomes of barbed reposition pharyngoplasty for obstructive sleep apnea syndrome treatment [PDF]

, 2020
Background: The purpose of this study was to evaluate long-term subjective outcomes of barbed reposition pharyngoplasty for obstructive sleep apnea syndrome (OSAS) treatment using a specific questionnaire, the Palate Postoperative Problem Score (PPOPS ...
Bianchi, G, Cammaroto, G, Cocuzza, S, Corso, RM, De Vito, A, Greco, A, Iannella G, Magliulo, G, Maniaci, A, Meccariello, G, Napoli, G, Pelucchi, S, Sgarzani, R, Vallicelli B, Vicini, C   +14 more
core   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel, Julie McLaughlin, Marta Frigeni   +2 more
wiley   +1 more source

Present state and perceived future use of teledentistry in long-term care facilities in Japan: A cross-sectional study

Digital Health
Objectives Teledentistry could be effective in managing oral health through the provision of oral hygiene instruction and diagnostic services. This study aimed to assess the perception and usefulness of teledentistry in Japanese long-term care facilities.
Takuma Okumura, Kazuharu Nakagawa, Kanako Yoshimi, Mitsuko Saito, Kayoko Ito, Masataka Itoda, Kenji Takeuchi, Shinsuke Mizutani, Mitsuyoshi Yoshida, Yutaka Watanabe, Haruka Tohara   +10 more
doaj   +1 more source

Cervical Deformity Patients Have Baseline Swallowing Dysfunction but Surgery Does Not Increase Dysphagia at 3 Months: Results From a Prospective Cohort Study. [PDF]

, 2019
Study designProspective cohort study.ObjectivesMost studies of dysphagia in the cervical spine have focused on a degenerative patient population; the rate of dysphagia following surgery for cervical deformity (CD) is unknown.
Ames, Christopher P, Bao, Hongda, International Spine Study Group (ISSG), Iyer, Sravisht, Kim, Han Jo, Klineberg, Eric O, Lafage, Virginie, Mundis, Gregory M, Neuman, Brian J, Passias, Peter, Protopsaltis, Themistocles S, Smith, Justin S   +11 more
core  

The UK myotonic dystrophy patient registry: facilitating and accelerating clinical research [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is the most frequent muscular dystrophy worldwide with complex, multi-systemic, and progressively worsening symptoms. There is currently no treatment for this inherited disorder and research can be challenging due to the ...
Atalaia, Antonio, Cordts, Isabell, Hammans, Simon, Hilton-Jones, David, Jimenez-Moreno, Aura Cecilia, Lochmüller, Hanns, Maddison, Paul, Marini-Bettolo, Chiara, Monckton, Darren G., Nikolenko, Nikoletta, Orrell, Richard, Petty, Richard, Phillips, Margaret, Roberts, Mark, Rogers, Mark, Straub, Volker, Thompson, Rachel, Turner, Chris, Wood, Libby   +18 more
core   +4 more sources