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The presence of psychiatric disorders (according to DSM-III-R), the discriminating power of a psychiatric structured interview, and sleep monitoring were investigated in psychophysiological insomnia.Forty young (20-40 years old) patients, selected for putative psychophysiological insomnia, underwent a psychiatric structured interview and home ambulatory sleep monitoring for 2 nights. The results were compared with those of a group of nine young normal sleepers.48% of the insomniacs showed some psychiatric disorders, while 52% did not meet DSM-III-R criteria for a psychiatric diagnosis. Both groups, but not the controls, showed a slight first-night effect in the sleep analysis. The sleep structure of all insomniacs was found to be disturbed, mainly in sleep continuity, but essentially the two groups showed no significant differences. When we used a stepwise logistic regression analysis, the number of sleep stage shifts (indicating sleep instability) was the best variable in discriminating the insomniacs from controls, but not the patients with psychiatric disturbances from those without psychopathologies.The evaluation of young insomniacs with a structured psychiatric interview rather than with ambulatory sleep monitoring seems to be most useful in discriminating between patients with only psychophysiological insomnia and patients with both insomnia and an associated diagnosis of another mental disorder.

The importance of vitamin D in bone and phosphocalcic status is well recognized by the scientific and medical communities; however, recently identified properties of this cholesterol derived molecule, such as immunomodulator and anticancer activities, are yet discussed. Actually, the debate is not so much about the new vitamin D properties, but rather about the optimal concentration required to reach these properties. The difficulty in determining the norms is rendered even more complex by the existence of a vitamin D receptor gene polymorphism. The body pool of this vitamin depends essentially on its endogenous synthesis, but also on its dietary intakes. Many epidemiological studies interested in Vitamin D serum level and cancer suggest a relation between low Vitamin D level and cancer risk, especially in breast and colon adenocarcinomas. In vitro, many studies showed, in different human and animal malignant cell lines, that this molecule exerts anticancer activities: it induces apoptosis and cell differentiation as well as it inhibits proliferation and angiogenesis. This review tries to update the current knowledge on vitamin D and, more particularly, the potential interest of this molecule in cancer prevention and management.

Objective The COVID-19 pandemic has strongly affected daily habits and psychological wellbeing, and many studies point to large modifications in several sleep and sleep-related domains. Nevertheless, pre-sleep arousal during the pandemic has been substantially overlooked. Since hyperarousal represents one of the main factors for the development and the perpetuation of chronic insomnia disorder, the assessment of variables associated with high levels of pre-sleep arousal during the pandemic is clinically relevant. The study aimed to assess the prevalence and predictors of perceived sleep quality and pre-sleep arousal in an Italian sample during the COVID-19 lockdown. Methods We used an online survey to collect self-reported sociodemographic, environmental, clinical, sleep, and sleep-related data. Our final sample included 761 participants. Results Beyond a high frequency of poor sleep quality, depressive and stress symptoms, our results show that almost half of the sample suffered from clinically relevant levels of at least one component (ie, cognitive, somatic) of pre-sleep arousal. Subjects with greater pre-sleep arousal exhibited poorer sleep quality. Also, sleep quality was strongly associated with somatic and cognitive pre-sleep arousal. Regarding the predictors of sleep and sleep-related measures, depressive and event-related stress symptoms were the main factors associated with both poor sleep quality and pre-sleep arousal components. Moreover, specific sociodemographic and environmental variables were uniquely related to sleep quality, cognitive or somatic pre-sleep arousal. Conclusions These findings suggest that the assessment of specific sleep-related factors (ie, pre-sleep arousal), together with more global measures of sleep quality, may be crucial to depict the complex impact of the pandemic on sleep, and to help prevent and counteract the spread of insomnia symptoms.

The aims of this study were to assess cognitive function in obstructive sleep apnea (OSA) patients and to evaluate the effect of short- and long-term treatment with continuous positive airway pressure treatment (CPAP). A battery of neuropsychological tests, the Epworth Sleepiness Scale (ESS), and the Beck Inventory Scale were administered to 23 patients with severe OSA (age: 56.5+/-6.13; AHI: 54.9+/-13.37) and to 23 age- and education-matched controls. The OSA patients were evaluated in a baseline condition and in two follow-up treatment sessions (after 15 days and 4 months of CPAP, respectively). At baseline, OSA patients had a significant impairment, compared to controls, in tests of sustained attention, visuospatial learning, executive function, motor performance, and constructional abilities. The longitudinal evaluation showed that after a 15-days CPAP treatment attentive, visuospatial learning, and motor performances returned to normal levels. A 4-months CPAP treatment did not result in any further improvement in cognitive tests. Performance on tests evaluating executive functions and constructional abilities was not affected by short- and long-term treatment with CPAP. The findings of this study confirm the hypothesis of partial reversibility of cognitive dysfunction in OSA patients after CPAP.

Obstructive sleep apnea (OSA) has been associated with a broad range of neurocognitive difficulties. The current view is that the neurocognitive impairment in OSA is due to the adverse effects of sleep fragmentation and/or intermittent hypoxia. The overall picture of cognitive deficits in OSA is complex. On balance, there appears to be negative effects of OSA on cognition, most likely in the domains of attention/vigilance, verbal and visual delayed long-term memory, visuospatial/constructional abilities, and executive dysfunction. Continuous positive airway pressure (CPAP) is the most effective and widely used treatment of OSA. In the majority of studies of OSA patients treated with CPAP, attention/vigilance improved, but changes in global functioning, executive functioning, and memory improved in about half of the studies. This may be due, in part, to variability in study design and sampling methodology across studies. Structural volume changes have been demonstrated in brain regions of OSA patients including areas that regulate memory and executive function (e.g., frontal cortex, anterior cingulate, and hippocampus). Growing evidence suggests that the OSA-related changes in brain morphology may improve with CPAP treatment. Neuroimaging studies performed during cognitive testing have provided insight into CPAP's effect on function of neuroanatomical circuits in the brain. Although neuroimaging can provide important insights into the structural and functional differences associated with OSA, one of the challenges is to interpret the findings in light of comorbid conditions that also cause neural injury. The purpose of this article is to provide a narrative review of the publications on cognition and neuroimaging in OSA before and after CPAP treatment.

Background Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterised by distinctive craniofacial and skeletal abnormalities. TRPS is generally associated with mutations in the TRPS1 gene at 8q23.3 or microdeletions of the 8q23.3-q24.11 region. However, three deletions affecting the same chromosome region and a familial translocation t(8;13) co-segregating with TRPS, which do not encompass or disrupt the TRPS1 gene, have been reported. A deregulated expression of TRPS1 has been hypothesised as cause of the TRPS phenotype of these patients. Case presentation We report the clinical and molecular characterisation of a 57-year-old Caucasian woman carrying the t(2;8)(p16.1;q23.3) de novo balanced translocation. The proband presented with peculiar clinical features (severe craniofacial dysmorphism, alopecia universalis, severe scoliosis, mitral valve prolapse, mild mental impairment and normal growth parameters) that partially overlap with TRPS I. Mutational and array CGH analyses ruled out any genetic defect affecting TRPS1 or genomic alteration at the translocation breakpoint or elsewhere in the genome. Breakpoint mapping excluded disruption of TRPS1, and revealed that the chromosome 8q23.3 breakpoint was located within the IVS10 of the long intergenic non-coding RNA LINC00536, at approximately 300 kb from the TRPS1 5’ end. Conversely, the 2p16.1 breakpoint mapped within a LINE sequence, in a region that lacks transcriptional regulatory elements. As a result of the translocation, nucleotide base pair additions and deletions were detected at both breakpoint junction fragments, and an evolutionarily conserved VISTA enhancer element from 2p16.1 was relocated at approximately 325 kb from the TRPS1 promoter. Conclusions We suggest that the disruption of the genomic architecture of cis regulatory elements downstream the TRPS1 5′ region, combined with the translocation of a novel enhancer element nearby TRPS1, might be the pathogenetic mechanism underpinning the proband’s phenotype. The clinical and genetic characterisation of the present subject allowed us to make a genetic diagnosis in the context of a known syndrome, contributing to a better comprehension of the complex transcriptional regulation of TRPS1 and TRPS ethiopathogenesis.

Habitual snoring and obstructive sleep apnoea in children, which are frequently associated with adenotonsillar hypertrophy, may begin early in life and in relation with orocraniofacial features. The aim of this study was to detect the presence of early bone craniofacial modifications in young children with a long history of habitual snoring. Twenty-six habitually snoring children (mean age 4.6 yrs) were studied by nocturnal portable recording or diurnal polysomnography, cephalometry and orthodontic evaluation. A comparison of cephalometric findings was made between the studied group and 26 age-matched children (mean age 5.1 yrs) with no history of snoring or respiratory problems during sleep. The cephalometric analyses showed a significant increase in craniomandibular intermaxillar, lower and upper goniac angles with a retroposition and posterior rotation of the mandible (high angle face) and a reduction in the rhinopharynx space caused by higher thickness of adenoids in habitually snoring children compared with controls. Cross-bites and labial incompetence as well as daytime symptoms and familiarity for habitual snoring were found in most of the studied group of snorers compared with controls. The results indicate that upper airway obstruction during sleep is associated with mild but significant cephalometric and craniofacial modifications in children complaining of habitual snoring. Whether this skeletal conformation is genetically determined or influenced by the early onset of habitual snoring remains to be assessed.

Some clinical features as the awakenings with feeling of choking, the abnormal motor activity during sleep and the excessive daytime sleepiness are relatively common both in obstructive sleep apnea syndrome and in nocturnal frontal lobe epilepsy. In these cases, a full-night video-polysomnographic monitoring is of the utmost importance to provide a differential diagnosis between the two conditions, and to verify, in the case of the co-existence of the two disorders, which is the one responsible for sleep disruption. In the present case reports, we described 2 patients referred to our Sleep Disorders Center with the above mentioned clinical features and with a previous clinical diagnosis of obstructive sleep apnea syndrome. After the recording of them, by means of full-night video-polysomnography, they were both diagnosed as having nocturnal frontal lobe epilepsy as the main sleep disorder and then successfully treated with carbamazepine.

Nineteen children born to patients with panic disorder and a comparison group of 16 children born to unaffected, non-psychiatric patient subjects exposed to novel and mildly stressful situations (visiting an unfamiliar place and watching a movie containing anxiogenic scenes) were assessed for their behaviors, heart rate, respiratory rate and salivary cortisol secretion. At arrival children born to patients with panic disorder had significantly longer latency of first spontaneous verbal comment, fewer prosocial behavior, and increased distress and attachment behavior. During the projection of the movie, children of the two groups differed for attachment, distress, and exploration behaviors. During the anxiogenic scenes children born to patients with panic disorder showed increased behavioral inhibition and higher heart rate. Autonomic modulation, respiratory rates and cortisol secretion were similar in the two groups. Some distinct psychophysiological patterns may constitute early manifestations of the transmitted liability to panic disorder. (C) 1997 Elsevier Science Ltd. Z8 0 ZR 0 ZB 29 ZS 3

After benzodiazepine (BDZ) administration, a decrease in cardiac vagal tone has been described during wakefulness, but data on cardiac autonomic function during sleep are lacking. Melatonin (MLT), reported to have hypnotic properties, caused an increase in vagal tone in animals. The aim of this study was to evaluate heart rate (HR) variability during sleep after a single bedtime dose of triazolam (TRI, 0.125 mg) and MLT (100 mg) in six healthy young subjects. We evaluated tonic (vagal activity) HR modifications in relation to sleep as well as phasic (sympathetic activity) HR modifications in relation to spontaneous body movements during rapid-eye-movement (REM) and non-REM (NREM) sleep. No significant change in sympathetic activity was observed after TRI and MLT in comparison with placebo, whereas TRI caused a significant decrease in vagal tone during sleep. Our nocturnal study seems to confirm previous diurnal findings about a decrease in vagal tone by BDZs.

The objective of this study was to compare the results of oxygen desaturations and sleep apnoea during a daytime nap (D) versus nocturnal sleep (N) evaluation, recorded by a portable multichannel monitoring device in patients with a clinical suspicion of obstructive sleep apnoea (OSA). Two polysomnographic studies were performed, by means of the Healthdyne NightWatch System, in 82 subjects (mean age 57·9 years). No difference was found in the apnoea + hypopnoea index (AHI) and mean S aO 2 between D and N recordings. At an AHI threshold of 20, in the D recordings, compared to the N ones, the sensitivity was 91% and the specificity 100%. A good correlation was found for AHI and oxygen desaturation index (ODI) between the two experimental conditions ( r =0·89 and 0·79, respectively). Our study shows that D recordings seem to be accurate for OSA diagnosis in the majority of patients with a clinical suspicion of sleep apnoea syndrome.