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https://www.readbyqxmd.com/read/28098945/frequency-of-cnksr2-mutation-in-the-x-linked-epilepsy-aphasia-spectrum
#1
John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand
Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairments. CNKSR2 (connector enhancer of KSR2) is a synaptic protein involved in Ras signaling-mediated neuronal proliferation, migration and differentiation. Mutations in the X-linked gene CNKSR2 have been described in patients with seizures and neurodevelopmental deficits, especially those affecting language. In this study, we sequenced 112 patients with phenotypes within the epilepsy-aphasia spectrum (EAS) to determine the frequency of CNKSR2 mutation within this complex set of disorders...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098492/insomnia-management-in-the-australian-primary-care-setting
#2
Fatema-Tun-Naher Sake, Keith Wong, Delwyn J Bartlett, Bandana Saini
BACKGROUND AND OBJECTIVE: Insomnia is one of the most prevalent and costly sleep disorders presenting in general practice, and when left untreated, has major health consequences. However, studies are limited on how general practitioners respond to this health issue, especially since the reconceptualization of insomnia in DSM 5. Therefore, the aim of this study was to explore how insomnia is diagnosed and treated in Australian general practices. PARTICIPANTS: Twenty-four (54% male) general practitioners were recruited throughout the greater Sydney metropolitan area in New South Wales using the professional network of research team members and snowballing technique...
January 18, 2017: Behavioral Sleep Medicine
https://www.readbyqxmd.com/read/28098176/comorbid-generalized-anxiety-disorder-and-its-association-with-quality-of-life-in-patients-with-major-depressive-disorder
#3
Yongjie Zhou, Zhongqiang Cao, Mei Yang, Xiaoyan Xi, Yiyang Guo, Maosheng Fang, Lijuan Cheng, Yukai Du
The comorbidity of major depressive disorder (MDD) and generalized anxiety disorder (GAD) is common and often predicts poorer outcomes than either disorder alone. This study aimed to examine the prevalence of comorbid GAD and its association with quality of life (QOL) among MDD patients. A total of 1225 psychiatric outpatients were screened using the Hospital Anxiety and Depression Scale (HADS). Those who scored ≥8 on the HADS were interviewed using DSM-IV criteria by two senior psychiatrists. Patients diagnosed with MDD were further assessed using the 9-item Patient Health Questionnaire, Social Support Rating Scale, Pittsburgh Sleep Quality Index, and World Health Organization QOL Scale, brief version (WHOQOL-BREF)...
January 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28097623/toward-a-functional-definition-of-ankyloglossia-validating-current-grading-scales-for-lingual-frenulum-length-and-tongue-mobility-in-1052-subjects
#4
Audrey Yoon, Soroush Zaghi, Rachel Weitzman, Sandy Ha, Clarice S Law, Christian Guilleminault, Stanley Y C Liu
PURPOSE: Alterations of the lingual frenulum may contribute to oromyofacial dysfunction, speech and swallowing impediments, underdevelopment of the maxillofacial skeleton, and even predispose to sleep breathing disorder. This study aims to assess the utility of existing instruments for evaluation of restricted tongue mobility, describe normal and abnormal ranges of tongue mobility, and provide evidence in support of a reliable and efficient measure of tongue mobility. METHODS: A prospective cohort study of 1052 consecutive patients was evaluated during a 3-month period...
January 17, 2017: Sleep & Breathing, Schlaf & Atmung
https://www.readbyqxmd.com/read/28096882/design-and-methods-of-the-mood-disorder-cohort-research-consortium-mdcrc-study
#5
Chul-Hyun Cho, Yong-Min Ahn, Se Joo Kim, Tae Hyun Ha, Hong Jin Jeon, Boseok Cha, Eunsoo Moon, Dong Yeon Park, Ji Hyun Baek, Hee-Ju Kang, Vin Ryu, Hyonggin An, Heon-Jeong Lee
The Mood Disorder Cohort Research Consortium (MDCRC) study is designed as a naturalistic observational prospective cohort study for early-onset mood disorders (major depressive disorders, bipolar disorders type 1 and 2) in South Korea. The study subjects consist of two populations: 1) patients with mood disorders under 25 years old and 2) patients with mood disorders within 2 years of treatment under 35 years old. After successful screening, the subjects are evaluated using baseline assessments and serial follow-up assessments at 3-month intervals...
January 2017: Psychiatry Investigation
https://www.readbyqxmd.com/read/28096514/tonsillectomy-for-obstructive-sleep-disordered-breathing-a-meta-analysis
#6
REVIEW
Sivakumar Chinnadurai, Atia K Jordan, Nila A Sathe, Christopher Fonnesbeck, Melissa L McPheeters, David O Francis
CONTEXT: The effectiveness of tonsillectomy or adenotonsillectomy (hereafter, "tonsillectomy") for obstructive sleep-disordered breathing (OSDB) compared with watchful waiting with supportive care is poorly understood. OBJECTIVE: To compare sleep, cognitive or behavioral, and health outcomes of tonsillectomy versus watchful waiting with supportive care in children with OSDB. DATA SOURCES: Medline, Embase, and the Cochrane Library. STUDY SELECTION: Two investigators independently screened studies against predetermined criteria...
January 17, 2017: Pediatrics
https://www.readbyqxmd.com/read/28095973/impact-of-obstructive-sleep-apnea-and-its-treatments-on-partners-a-literature-review
#7
Faith S Luyster
STUDY OBJECTIVES: Many adults sleep with a significant other; thus, sleep disorder symptoms and treatments of one partner are likely to impact the other partner's health. A literature review was conducted to examine the impact of obstructive sleep apnea (OSA) and OSA treatments on partner-assessed sleep and daytime functioning and partner involvement in OSA treatment. METHODS: MEDLINE, EMBASE, and CINAHL searches yielded 38 pertinent quantitative and qualitative studies that described sleep and/or daytime functioning assessed in partners of patients with untreated OSA, sleep and/or daytime functioning assessed in partners who were referred for OSA treatment, including continuous positive airway pressure (CPAP) therapy, oral appliance (OA), or surgery, and/or associations between partner involvement and OSA treatment use...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28095972/sex-specific-difference-in-the-association-between-poor-sleep-quality-and-abdominal-obesity-in-rural-chinese-a-large-population-based-study
#8
Ru-Qing Liu, Zhengmin Qian, Si-Quan Wang, Michael G Vaughn, Sarah Dee Geiger, Hong Xian, Shao Lin, Gunther Paul, Xiao-Wen Zeng, Bo-Yi Yang, Li-Wen Hu, Shu-Li Xu, Mo Yang, Guang-Hui Dong
STUDY OBJECTIVES: Existing studies on sleep quality and associated obesity are inconsistent, and few studies have prospectively evaluated the association between sleep quality and abdominal obesity among Chinese individuals. To fill this void, the current study aimed to assess the association between sleep quality and abdominal obesity in a rural Chinese population. METHODS: A representative sample of 9,404 adults aged 20-93 y in northeastern China was selected between 2012 and 2013 by a multistage cluster and random sampling method...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28095970/cyclic-alternating-pattern-associated-with-catathrenia-and-bruxism-in-a-10-year-old-patient
#9
Brian Villafuerte-Trisolini, Fiorella Adrianzén-Álvarez, Kevin R Duque, Jimmy Palacios-García, Darwin Vizcarra-Escobar
Cyclic alternating pattern (CAP) is widely recognized as an expression of sleep instability in electroencephalogram activity during nonrapid eye movement sleep. We report a case with sequences of CAP followed by bruxism and catathrenia in a 10-y-old male patient with a diagnosis of attention deficit hyperactivity disorder in treatment with methylphenidate. We found CAP in 83.1% of all episodes of catathrenia, and the CAP rate was 12.8%. We propose to consider catathrenia as one of the sleep disorders that may be accompanied by CAP...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28095969/body-fat-distribution-ratios-and-obstructive-sleep-apnea-severity-in-youth-with-obesity
#10
Amy Glicksman, Stasia Hadjiyannakis, Nicholas Barrowman, Scott Walker, Lynda Hoey, Sherri Lynne Katz
STUDY OBJECTIVES: Obesity and regional fat distribution, measured by neck fat mass percentage using dual-energy X-ray absorptiometry (DXA), correlate with obstructive sleep apnea (OSA) severity in adults. In obese children, neck-to-waist-circumference ratio predicts OSA. This study examined associations between body fat percentage and distribution and sleep-disordered breathing (SDB) severity in obese youth, measured with DXA. METHODS: Cross-sectional retrospective study conducted at a tertiary children's hospital...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28095965/vamonos-veterans-affairs-metabolism-obstructed-and-non-obstructed-sleep-study-effects-of-cpap-therapy-on-glucose-metabolism-in-patients-with-obstructive-sleep-apnea
#11
Octavian C Ioachimescu, Jeremy Anthony, Tina Constantin, Mary-Margaret Ciavatta, Kandace McCarver, Mary Ellen Sweeney
STUDY OBJECTIVES: Obstructive sleep apnea (OSA) and type 2 diabetes mellitus (T2DM) are prevalent disorders that pose increased risk of cardiovascular disease and death. The objective of this study was to clarify if continuous positive airway pressure (CPAP) therapy for OSA affects T2DM control and emergence. METHODS: Point-of-care, comparative effectiveness study; cross-sectional and longitudinal analyses. RESULTS: Our cohort included 928 consecutive patients; 13% were women; 36% were Caucasians and 61% African-Americans...
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28094865/long-term-side-effects-on-the-temporomandibular-joints-and-orofacial-function-in-patients-with-obstructive-sleep-apnea-treated-with-a-mandibular-advancement-device
#12
Sofie W Knappe, Merete Bakke, Palle Svanholt, Arne Petersson, Liselotte Sonnesen
Patients with obstructive sleep apnea (OSA) in long-term treatment with a mandibular advancement device (MAD) to increase the upper airway space, may develop changes in the temporomandibular joint (TMJ) and the orofacial function due to the protruded jaw position during sleep. The aim was to investigate the influence of long-term MAD treatment on the TMJs, orofacial function and occlusion. This prospective study included 30 men and 13 women (median age 54) with OSA (Apnoea-Hypopnoea Index (AHI): 7-57). They were examined with the Nordic Orofacial Test Screening (NOT-S), the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD) and cone beam computed tomography (CBCT) of the TMJs...
January 17, 2017: Journal of Oral Rehabilitation
https://www.readbyqxmd.com/read/28094660/postoperative-bleeding-and-associated-utilization-following-tonsillectomy-in-children
#13
David O Francis, Christopher Fonnesbeck, Nila Sathe, Melissa McPheeters, Shanthi Krishnaswami, Sivakumar Chinnadurai
Objective To assess posttonsillectomy hemorrhage (PTH), associated nonoperative readmissions/revisits, and reoperations in children. Data Sources MEDLINE, EMBASE, and the Cochrane Library. Review Methods Two investigators independently screened studies against predetermined criteria and extracted key data. Investigators independently assessed study risk of bias and the strength of the evidence of the body of literature. We calculated unadjusted pooled estimates of PTH frequency and conducted a Bayesian meta-analysis to estimate frequency of primary and secondary PTH and PTH-associated reoperation and revisits/readmissions by partial and total tonsillectomy and surgical approach...
January 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28093795/the-natural-history-of-pure-autonomic-failure-a-u-s-prospective-cohort
#14
Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Italo Biaggioni, Phillip A Low, Wolfgang Singer, David S Goldstein, Amanda C Peltier, Cyndia A Shibao, Christopher H Gibbons, Roy Freeman, David Robertson
OBJECTIVE: To define the clinical features and biomarkers that predict which patients with pure autonomic failure will develop Parkinson disease, dementia with Lewy bodies, or multiple system atrophy. METHODS: One hundred patients who presented with pure autonomic failure were recruited at 5 medical centers in the U.S. Seventy-four patients agreed to be followed prospectively. Patients underwent clinical evaluations including neurological rating scales, sleep questionnaires, smell test, and sympathetic and parasympathetic cardiovascular autonomic function tests...
January 17, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28093374/predictors-of-pharmacological-intervention-in-adolescents-with-protracted-symptoms-after-sports-related-concussion
#15
Shanti M Pinto, Maria F Twichell, Luke C Henry
BACKGROUND: Though recovery after concussion is spontaneous and typically occurs within two to three weeks, a subset of adolescents develop persistent symptoms after a sports-related concussion. Medications are frequently prescribed as part of a comprehensive treatment approach to alleviate these symptoms; however, there are no guidelines for prescription of pharmacologic therapy after concussion. OBJECTIVE: To investigate common factors that are associated with the use of medications (anti-epileptic, anti-depressant, neurostimulant, or sleeping medication) during recovery from a sports-related concussion...
January 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28093033/the-functional-impact-of-sleep-disorders-in-children-with-adhd
#16
Stephanie G Craig, Margaret D Weiss, Kristen L Hudec, Christopher Gibbons
OBJECTIVE: Children with ADHD display higher rates of sleep problems, and both sleep disorders and ADHD have been shown to affect functioning in childhood. The current study examines the frequency and relationship between sleep problems and ADHD, and their impact on quality of life (QoL) and functional impairment. METHOD: Parents of 192 children with ADHD ( M = 10.23 years) completed measures regarding their child's ADHD symptoms (Swanson, Nolan and Pelham [SNAP]), sleep disorders (Pediatric Sleep Questionnaire [PSQ]), QoL (Child Health Illness Profile [CHIP-PE]), and functioning (Weiss Functional Impairment Rating Scale-Parent Report [WFIRS-P])...
January 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28092583/deep-learning-and-insomnia-assisting-clinicians-with-their-diagnosis
#17
Mostafa Shahin, Beena Ahmed, Sana Tmar-Ben Hamida, Fathima Mulaffer, Martin Glos, Thomas Penzel
Effective sleep analysis is hampered by the lack of automated tools catering for disordered sleep patterns and cumbersome monitoring hardware. In this paper, we apply deep learning on a set of 57 EEG features extracted from a maximum of two EEG channels to accurately differentiate between patients with insomnia or controls with no sleep complaints. We investigated two different approaches to achieve this. The first approach used EEG data from the whole sleep recording irrespective of the sleep stage (stage-independent classification), while the second used only EEG data from insomnia-impacted specific sleep stages (stage-dependent classification)...
January 9, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28092114/sleep-disordered-breathing-in-pediatric-head-and-neck-vascular-malformations
#18
Megan L Durr, Anna K Meyer, Eric J Kezirian, Mark D Mamlouk, Ilona J Frieden, Kristina W Rosbe
OBJECTIVES: To determine the prevalence of sleep-disordered breathing (SDB) symptoms among children with head and neck vascular malformations and to compare obstructive sleep apnea (OSA)-18 scores between children with head and neck vascular malformations and children with non-head and neck vascular malformations. STUDY DESIGN: Retrospective cohort and prospective cross-sectional studies METHODS: Forty-three pediatric subjects with head and neck vascular malformations evaluated at a tertiary-care multidisciplinary vascular anomalies center were included in a retrospective cohort study...
January 16, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28091622/clinical-variations-in-parkinson-s-disease-patients-with-or-without-rem-sleep-behaviour-disorder-a-meta-analysis
#19
Ruo-Lin Zhu, Cheng-Juan Xie, Pan-Pan Hu, Kai Wang
This study aimed to evaluate the clinical variations in patients with Parkinson's disease (PD) with (PDRBD) or without REM sleep behaviour disorder (RBD) (Non-RBD), and PDRBD patients were classified into Confirmed-RBD (definite diagnosis with polysomnography, PSG) and Probable-RBD (without PSG re-confirmation). The clinical difference between the groups of patients was measured as an odds ratio (OR) or standardized mean difference (SMD, Cohen d). A total of 31 articles with data from 5,785 participants were obtained for our analysis...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28090684/predict-pd-an-online-approach-to-prospectively-identify-risk-indicators-of-parkinson-s-disease
#20
Alastair J Noyce, Lea R'Bibo, Luisa Peress, Jonathan P Bestwick, Kerala L Adams-Carr, Niccolo E Mencacci, Christopher H Hawkes, Joseph M Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J Lees, Anette Schrag
BACKGROUND: A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE: To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS: Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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