Results 71 to 80 of about 31,854 (258)
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? [PDF]
, 2018 Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions.
Aliri Lazcano, Jone +5 more
core +2 more sources
Emerging trends in the management of non‐obstructive azoospermia
UroPrecision, EarlyView.Abstract Ten percent of infertile males have azoospermia, classified into obstructive and nonobstructive types, which require specific medical or surgical treatments. In nonobstructive azoospermia, advancements in microsurgery allow for effective sperm retrieval in about half of cases.
Mina Saad +4 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.The proposed conceptual framework highlighting parents' central role in their child's healthcare experience. Abstract Aim To explore parents' experiences of family‐centered care (FCC) in a pediatric neurology clinic. Method In this explanatory sequential mixed‐methods study, parents of children with neurological conditions completed the Measure of ...
Ege Sarikaya +21 more
wiley +1 more source
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BMC Neurology, 2022 Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL.
Haruo Fujino +6 more
doaj +1 more source
The fetal neurologist: Strategies to improve training, practice, and clinical care
Developmental Medicine &Child Neurology, EarlyView.Abstract Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e.
Tally Lerman‐Sagie, Anthony R. Hart
wiley +1 more source
Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping
Taiwanese Journal of Obstetrics & Gynecology, 2019 Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang +2 more
doaj
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
Frontiers in Cellular Neuroscience, 2017 Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon +2 more
doaj +1 more source
Myotonic dystrophy with pseudohyperkalemia
Nihon Naika Gakkai Zasshi, 2003 症例は43歳,女性. 40歳より筋力低下を自覚. 42歳時高K血症を指摘され来院.特徴的顔貌,ミオトニア,針筋電図より筋強直性ジストロフィーと診断.血清K高値であるが同時採血した動脈血液の全血K値は正常であり,心電図変化も伴わず,偽性高K血症と診断.血清K値は変動し,体動後に上昇する傾向がみられた.筋強直性ジストロフィーでは偽性高K血症を示すことがあり,注意を要すると考えられ報告する.
Kikuko Ota +4 more
openaire +4 more sources
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source