Results 111 to 120 of about 18,395,903 (215)

Sleep Duration and its Correlation with Functional Outcomes of Sleep and Physical Activity in Patients with Adult-onset Diabetes [PDF]

Bacgrand & objective: Sleep has an important role in body physiologic cycle but its advantages wouldn’t be considerable till the person experiences sleep problems.
علیزاده, هما, شکوری مقدم, رویا, قربانی, اعظم, قزلباش, سيما   +3 more
core  

A Novel BHLHE41 Variant is Associated with Short Sleep and Resistance to Sleep Deprivation in Humans

, 2014
Study Objectives: Earlier work described a mutation in DEC2 also known as BHLHE41 (basic helix-loop-helix family member e41) as causal in a family of short sleepers, who needed just 6 h sleep per night.
Dinges, David F, Kuna, Samuel T., Van Dongen, Hans P A, Tufik, Sergio [UNIFESP], Pack, Allan I., Dinges, David F., Pellegrino, Renata, Pack, Allan I, Pellegrino, Renata [UNIFESP], Tufik, Sergio, Hogenesch, John B, Maislin, Greg, Hakonarson, Hakon, Kavakli, Ibrahim Halil, Van Dongen, Hans P. A., Goel, Namni, Cardinale, Christopher J., Kuna, Samuel T, Hogenesch, John B., Cardinale, Christopher J   +19 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Burnout among junior doctors in Spain: prevalence, associated working conditions, and implications for health workforce well-being

BMC Health Services Research
Background Burnout syndrome, a consequence of chronic workplace stress, poses a critical challenge for health workforce sustainability. Junior doctors in postgraduate training represent a strategic cohort of the health workforce, as they face multiple ...
Domingo Antonio Sánchez Martínez, Anais Cruz Núñez, Juan Pablo Carrasco, Jon Imanol Sanmiguel Zabala, Antonio Pujol de Castro, Pablo Estrella-Porter, Álvaro Cerame del Campo   +6 more
doaj   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Depressive symptoms, insomnia, and burnout among health-care workers in an integrated medical alliance in Shanghai: implications for workforce well-being and health-system management

Frontiers in Public Health
BackgroundHealth-care workers’ mental health is closely related to workforce stability, quality of care, and health-system resilience. In China, medical alliances are a model for integrating tertiary hospitals, secondary hospitals, and community health ...
Pei Xu, Yanmei Gu, Haonan Shi, Haonan Shi, Zhendong Zhang, Bei Tian, Tingting Wang, Tingting Wang   +7 more
doaj   +1 more source

Free Recall of Word Lists under Total Sleep Deprivation and after Recovery Sleep

, 2012
Study Objectives: One task that has been used to assess memory effects of prior total sleep deprivation (TSD) is the immediate free recall of word lists; however, results have been mixed.
Pompeia, Sabine [UNIFESP], Andersen, Monica Levy [UNIFESP], Tufik, Sergio [UNIFESP], Zanini, Gislaine de Almeida Valverde [UNIFESP], Rodrigues, Camila Cruz [UNIFESP], Silva, Raquel Cristina Martins da [UNIFESP], Bueno, Orlando Francisco Amodeo [UNIFESP]   +6 more
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Feasibility, functionality, and user experience with wearable technologies for acute exacerbation monitoring in patients with severe COPD

Frontiers in Signal Processing
Background: The increasing interest in remote patient monitoring technologies in patients with chronic obstructive pulmonary disease (COPD) requires a phased and stepwise investigative approach, which includes high-risk clinical subgroups who stand to ...
Olivia C. Iorio, Felix-Antoine Coutu, Felix-Antoine Coutu, Dany Malaeb, Bryan A. Ross, Bryan A. Ross, Bryan A. Ross, Bryan A. Ross   +7 more
doaj   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri, Alessandro Serretti, Marco Menchetti, Benedetta Vai, Francesco Benedetti, Lidia Fortaner‐Uyà, Concetta Crisafulli   +6 more
wiley   +1 more source