Results 191 to 200 of about 404,286 (313)

Sleep disorders in hepatocellular carcinoma. [PDF]

World J Gastrointest Oncol
Qian J, Ruan MH, Wang ZJ, Dong W, Jia JY, Feng XC, Liu H.   +6 more
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Maladaptive reorganization of mediodorsal thalamus as a central mechanism in neuropathic pain-related sleep disorders. [PDF]

Mil Med Res
Li L, Han Q, Bai HL, Xiao Q, He X, Chen JF, Zhen ZM, Luo XQ, Zhang YJ, Lu MM, Wang X, Li SY, Xiong JX, Wang Y, Hu ZA, Zhang XL, Liu Y, He C.   +17 more
europepmc   +1 more source

Measuring a sleep/stress switch point

The Spielman 3P and Cano-Saper models of insomnia focus on the role of stress in the development of insomnia. To date, the impact of both naturalistic stressors and experimental stressors upon sleep have been inconsistent, due to limitations including ...
Elder, Greg
core  

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

A review of neurophysiological relationships between sleep disorders and depression. [PDF]

Brain Behav Immun Health
Huang Y.
europepmc   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Association Between Work Stress and Sleep Disorders in Law Enforcement: A Systematic Review and Meta-Analysis. [PDF]

Nat Sci Sleep
Yang H, Tang S.
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Association between anxiety and sleep disorders in older adults: evidence from the 2020 health and retirement study. [PDF]

Front Psychol
Zhao Y, Meng S, Yu Z, Jiang T, Yao X, Huang Y, Chen Y, Wang N, Chen Z, Zhang L.   +9 more
europepmc   +1 more source