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https://www.readbyqxmd.com/read/29679838/medico-legal-investigation-in-an-explicable-case-of-congenital-central-hypoventilation-syndrome-due-to-a-rare-variant-of-the-phox2b-gene
#1
Francesco Ventura, Rosario Barranco, Tiziana Bachetti, Paolo Nozza, Ezio Fulcheri, Antonella Palmieri, Isabella Ceccherini
The heterozygous PHOX2B gene mutation is related to congenital central hypoventilation syndrome (CCHS). It is characterized by defective autonomous nervous system development leading to inadequate breathing response to hypoxia and hypercapnia, leading to hypoventilation especially during non-REM sleep, but also during waking in the more severe cases. Herein we report a case of sudden death in a 28-day-old child. The mother reported the infant was found lying on her own bed in the prone position. The infant was wearing a romper and lying in her crib without any blanket or other objects...
April 17, 2018: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/29679598/sleep-in-women-across-the-lifespan
#2
REVIEW
Martino Pengo, Christine Won, Ghada Bourjeily
There are many ways in which women experience sleep differently than men. Women contend with distinct sleep challenges, respond differently to sleep disorders, sleep deprivation and deficiency, and face particular health outcomes as a result of poor sleep. Idiosyncrasies - including changes that occur with the biological life cycles of menstruation, pregnancy, and menopause- make the understanding of sleep in women an important topic to study. Each phase of a woman's life, from childhood to menopause, increases the risk of sleep disturbance in unique ways that may require distinct management...
April 18, 2018: Chest
https://www.readbyqxmd.com/read/29671235/evaluation-of-neurotransmitter-alterations-in-four-distinct-brain-regions-after-rapid-eye-movement-sleep-deprivation-remsd-induced-mania-like-behaviour-in-swiss-albino-mice
#3
Saiful Alom Siddique, Thangavel Tamilselvan, Manikkannan Vishnupriya, Elumalai Balamurugan
A number of neurotransmitter systems have been implicated in contributing to the pathology of mood disorders, including those of dopamine (DA), serotonin (5-HT), norepinephrine (NE) and γ-aminobutyric acid (GABA). Rapid eye movement sleep deprivation (REMSD) alters most of the neurotransmitters, which may have adverse behavioural changes and other health consequences like mania and other psychiatric disorders. The exact role of REMSD altered neurotransmitter levels and the manner in which emerging consequences lead to mania-like behaviour is poorly understood...
April 18, 2018: Neurochemical Research
https://www.readbyqxmd.com/read/29662454/the-biological-clock-a-pivotal-hub-in-non-alcoholic-fatty-liver-disease-pathogenesis
#4
REVIEW
Gianluigi Mazzoccoli, Salvatore De Cosmo, Tommaso Mazza
Non-alcoholic fatty liver disease (NAFLD) is the most frequent hepatic pathology in the Western world and may evolve into steatohepatitis (NASH), increasing the risk of cirrhosis, portal hypertension and hepatocellular carcinoma. NAFLD derives from the accumulation of hepatic fat due to discrepant free fatty acid metabolism. Other factors contributing to this are deranged nutrients and bile acids fluxes as well as alterations in nuclear receptors, hormones, and intermediary metabolites, which impact on signaling pathways involved in metabolism and inflammation...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29642737/sudden-unexpected-death-in-neonates-a-clinico-pathological-study
#5
Jeanette A Reyes, Gino R Somers, David A Chiasson
Clinico-pathological studies that focus on sudden unexpected death (SUD) in the neonatal period are rare. The objective of this study was to elucidate the frequency and pathological spectrum of anatomical causes of death (CODs), found in the setting of sudden unexpected death in neonates (SUD-N), and to correlate the COD with premortem circumstantial information. We conducted a detailed review of all autopsy reports on SUD-N cases at our institution from 1997 to 2015. Analyzed clinical data included obstetrical history, postpartum/neonatal medical course, and circumstances surrounding death...
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29627145/influence-of-hypoxia-induced-by-sleep-disordered-breathing-in-case-of-hypertension-and-atrial-fibrillation
#6
REVIEW
Shin-Ichi Ando
Sleep disordered breathing (SDB) has been recognized as one of the important causes or factors of worsening for various cerebro- and cardiovascular diseases. On the other hand, a recent large randomized study and meta-analysis about the effect of continuous positive airway pressure (CPAP) indicated no or only minor effects to improve the outcome of SDB patients. Accumulating evidence has indicated that the key factor of the link between SDB and cardiovascular diseases might be hypoxia caused during repetitive long apneic episodes...
April 4, 2018: Journal of Cardiology
https://www.readbyqxmd.com/read/29624144/pilot-study-of-intracranial-venous-physiology-in-craniosynostosis
#7
Martijn J Cornelissen, Robbin de Goederen, Priya Doerga, Iris Cuperus, Marie-Lise van Veelen, Maarten Lequin, Paul Govaert, Irene M J Mathijssen, Jeroen Dudink, Robert C Tasker
OBJECTIVE In addition to craniocerebral disproportion, other factors, such as Chiari malformation type I, obstructive sleep apnea, and venous outflow obstruction, are considered to have a role in the occurrence of intracranial hypertension in craniosynostosis. This pilot study examined cerebral venous flow velocity to better characterize the complex intracranial venous physiology of craniosynostosis. METHODS The authors performed a prospective cohort study of craniosynostosis patients (n = 34) referred to a single national (tertiary) craniofacial unit...
April 6, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29623059/cognitive-impairments-in-fibromyalgia-syndrome-associations-with-positive-and-negative-affect-alexithymia-pain-catastrophizing-and-self-esteem
#8
Carmen M Galvez-Sánchez, Gustavo A Reyes Del Paso, Stefan Duschek
Fibromyalgia syndrome (FMS) is a chronic condition characterized by widespread pain accompanied by symptoms like depression, anxiety, sleep disturbance and fatigue. In addition, affected patients frequently report cognitive disruption such as forgetfulness, concentration difficulties or mental slowness. Though cognitive deficits in FMS have been confirmed in various studies, not much is known about the mechanisms involved in their origin. This study aimed to investigate the contribution of affect-related variables to cognitive impairments in FMS...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29602778/clinical-imaging-in-dementia-with-lewy-bodies
#9
REVIEW
Ajenthan Surendranathan, John Tiernan O'Brien
Dementia with Lewy bodies (DLB) is a common neurodegenerative dementia in older people; however, the clinical features, particularly cognitive fluctuations and rapid eye movement sleep disorder, are often hard to elicit, leading to difficulty in making the diagnosis clinically. Here we examine the literature for the evidence behind imaging modalities that could assist in making the diagnosis. Dopamine transporter (DAT) imaging remains the best modality for differentiation from dementia of Alzheimer's type with high sensitivity and specificity reported based on pathological diagnoses...
March 29, 2018: Evidence-based Mental Health
https://www.readbyqxmd.com/read/29599979/the-phenotype-psychotype-and-genotype-of-bruxism
#10
Norma Cruz-Fierro, Margarita Martínez-Fierro, Ricardo M Cerda-Flores, Mayra A Gómez-Govea, Iván Delgado-Enciso, Laura E Martínez-De-Villarreal, Mónica T González-Ramírez, Irám Pablo Rodríguez-Sánchez
Bruxism is a jaw muscle activity that involves physio-pathological, psycho-social, hereditary and genetic factors. The purpose of this study was to determine the associations between self-reported bruxism, anxiety, and neuroticism personality trait with the rs6313 polymorphism in the gene HTR2A . A sample of 171 subjects of both sexes (14-53 years of age) was included. The control group (group 1, n=60) exhibited no signs or symptoms of bruxism. The case group had signs and symptoms of bruxism (n=112) and was subdivided into group 2, bruxism during sleep (n=22); group 3, awake bruxism (n=44); and group 4 combined bruxism (n=46)...
March 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29580905/-management-of-epilepsia-in-older
#11
Agathe Alberti, Benjamin Thomas, Cécile Marchal
Epilepsy increases in frequency with age, above 60, with consequences in terms of independence. Stroke and dementia are the most frequent etiologies. Clinical diagnostic of epileptic seizure is challenging at this age, and a clinical algorithm is proposed. Sleep EEG during one hour seems to be the most useful exam. Interictal and critical discharges can be seen during sleep in dementia ; relation between hyperexcitability and evolution of cognition has to be precised in this pathology. In a therapeutical point of view, it is necessary to bear in mind the pharmacological consequences of aging, polytherapies, and the frequency of adverse events in this age group...
March 2018: La Presse Médicale
https://www.readbyqxmd.com/read/29577172/parafoveal-and-optic-disc-vessel-density-in-patients-with-obstructive-sleep-apnea-syndrome-an-optical-coherence-tomography-angiography-study
#12
Laura Moyal, Esther Blumen-Ohana, Marc Blumen, Cybele Blatrix, Frederic Chabolle, Jean-Philippe Nordmann
AIMS: To compare optic disc perfusion, radial peripapillary capillaries (RPC) and macular vascular density, between normal subjects and subjects with obstructive sleep apnea syndrome (OSAS) using spectral-domain OCT angiography (OCTA). METHODS: Sixteen eyes of patients with mild OSAS, 17 eyes with moderate OSAS, 20 eyes with severe OSAS on polygraphy and 28 controls were evaluated with OCTA RT XR Avanti (AngioVue software, Optovue Inc., Fremont, CA). Optic nerve head (ONH), RPC and macular vessel density were measured...
March 25, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29575912/intrathalamic-connections-shape-spindle-activity-a-modelling-study
#13
Bálint Bús, Károly Antal, Zsuzsa Emri
Spindle oscillations are generated predominantly during sleep state II, through cyclical interactions between thalamocortical and reticular neurons. Inhibition from reticular cells is critical for this activity; it enables burst firing by the de-inactivation of T-type Ca2+ channels. While the effect of different channelopathies on spindling is extensively investigated, our knowledge about the role of intrathalamic connections is limited. Therefore, we explored how the connection pattern and the density of reticular inhibitory synapses affect spindle activity in a thalamic network model...
March 2018: Acta Biologica Hungarica
https://www.readbyqxmd.com/read/29575441/lactobacillus-plantarum-mtcc-9510-supplementation-protects-from-chronic-unpredictable-and-sleep-deprivation-induced-behaviour-biochemical-and-selected-gut-microbial-aberrations-in-mice
#14
Jatinder Dhaliwal, Dhirendra Pratap Singh, Shashank Singh, P Anil Kumar, Ravneet Kaur Boparai, Mahendra Bishnoi, Kanthi Kiran Kondepudi, Kanwaljit Chopra
AIM: Here we evaluated any beneficial effects of a potential probiotic bacterial strain (Lactobacillus plantarum MTCC 9510) in two different stress paradigms in mice. METHODS AND RESULTS: L. plantarum MTCC 9510 (2×1010 CFU per mice) was supplemented to male Swiss albino mice either subjected to chronic unpredictable mild stress or sleep deprivation stress. Various behavioral and biochemical tests along with selected gut bacterial abundances were determined. L. plantarum MTCC 9510 supplementation prevented stress-induced behavioral despair (depression, anxiety, learning and memory, stereotypic behavior), oxidative stress markers, and inflammatory cytokines in brain and serum...
March 25, 2018: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/29572319/ossabaw-pigs-with-a-pcsk9-gain-of-function-mutation-develop-accelerated-coronary-atherosclerotic-lesions-a-novel-model-for-preclinical-studies
#15
Fang Yuan, Liang Guo, Kyoung-Ha Park, John R Woollard, Kwon Taek-Geun, Kai Jiang, Tamene Melkamu, Bin Zang, Samantha L Smith, Scott C Fahrenkrug, Frank D Kolodgie, Amir Lerman, Renu Virmani, Lilach O Lerman, Daniel F Carlson
BACKGROUND: Ossabaw pigs are unique miniature swine with genetic predisposition to develop metabolic syndrome and coronary atherosclerosis after extended periods receiving atherogenic diets. We have hypothesized that transgenic Ossabaw swine expressing chimp PCSK9 (proprotein convertase subtilisin-like/kexin type 9) containing the D374Y gain of function would develop familial hypercholesterolemia and coronary artery plaques more rapidly than Landrace swine with the same transgene. METHODS AND RESULTS: Ossabaw and Landrace PCSK9 gain-of-function founders were generated by Sleeping Beauty transposition and cloning...
March 23, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29564775/airway-obstruction-in-sleep-apnea-patients
#16
Magdalena Kostrzewska, Tomasz Trafas, Barbara Bromińska, Halina Batura-Gabryel, Sławomir Michalak, Beata Brajer-Luftmann, Agata Nowicka, Marcin Grabicki, Przemysław Guzik, Tomasz Piorunek
Obstructive sleep apnea (OSA) is a condition of breathing pathology occurring during sleep, characterized by repeated episodes of upper airway obstruction. The aim of the study was to determine the occurrence of airway obstruction in smoking males with OSA in whom lung function tests had not been performed before. One hundred and four current smokers selected from 1241 patients were enrolled for the research. The subjects included in the study smoked minimum 20 cigarettes a day for at least 10 years. The diagnosis of OSA was confirmed by polysomnography (PSG) in the Sleep Laboratory and subjects were assigned to one of three groups, depending on the severity of OSA...
March 22, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29563894/the-cost-of-activity-during-the-rest-phase-animal-models-and-theoretical-perspectives
#17
Antonio A Nunez, Lily Yan, Laura Smale
For humans, activity during the night is correlated with multiple pathologies that may reflect a lack of harmony among components of the circadian system; however, it remains difficult to identify causal links between nocturnal activity and different pathologies based on the data available from epidemiological studies. Animal models that use forced activity or timed sleep deprivation provide evidence of circadian disruptions that may be at the core of the health risks faced by human night and shift workers...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29563238/alzheimer-s-disease-and-sleep-wake-disturbances-amyloid-astrocytes-and-animal-models
#18
William M Vanderheyden, Miranda M Lim, Erik S Musiek, Jason R Gerstner
Sleep-wake abnormalities are common in patients with Alzheimer's disease, and can be a major reason for institutionalization. However, an emerging concept is that these sleep-wake disturbances are part of the causal pathway accelerating the neurodegenerative process. Recently, new findings have provided intriguing evidence for a positive feedback loop between sleep-wake dysfunction and β-amyloid (Aβ) aggregation. Studies in both humans and animal models have shown that extended periods of wakefulness increase Aβ levels and aggregation, and accumulation of Aβ causes fragmentation of sleep...
March 21, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29562536/update-on-vascular-cognitive-impairment-associated-with-subcortical-small-vessel-disease
#19
Anders Wallin, Gustavo C Román, Margaret Esiri, Petronella Kettunen, Johan Svensson, George P Paraskevas, Elisabeth Kapaki
Subcortical small-vessel disease (SSVD) is a disorder well characterized from the clinical, imaging, and neuropathological viewpoints. SSVD is considered the most prevalent ischemic brain disorder, increasing in frequency with age. Vascular risk factors include hypertension, diabetes, hyperlipidemia, elevated homocysteine, and obstructive sleep apnea. Ischemic white matter lesions are the hallmark of SSVD; other pathological lesions include arteriolosclerosis, dilatation of perivascular spaces, venous collagenosis, cerebral amyloid angiopathy, microbleeds, microinfarcts, lacunes, and large infarcts...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29561202/the-inward-rectifier-potassium-current-i-kir-promotes-the-intrinsic-pacemaker-activity-of-thalamocortical-neurons
#20
Yimy Amarillo, Angela Isabel Tissone, German Mato, Marcela S Nadal
Slow repetitive burst firing by hyperpolarized thalamocortical (TC) neurons correlates with global slow rhythms (< 4 Hz), which are the physiological oscillations during N-REM sleep, or pathological ones during idiopathic epilepsy. The pacemaker activity of TC neurons depends on the expression of several subthreshold conductances, which are modulated in a behaviorally dependent manner. Here we show that up-regulation of the small and neglected inward rectifier potassium current IKir induces repetitive burst firing at slow and delta frequency bands...
March 21, 2018: Journal of Neurophysiology
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