CT comparison of primary snoring and obstructive sleep apnea syndrome: role of pharyngeal narrowing ratio and soft palate-tongue contact in awake patient.

Soft palate-tongue contact and automatically calculated pharyngeal narrowing ratio (PNR), defined as a ratio between the airway cross-section at the hard palate level and the narrowest cross-section from the hard palate to the epiglottis, could assist in earlier identification of potential obstructive sleep apnea syndrome (OSA) patients even on awake individuals. Parameters were studied on carotid CTA images from 67 consecutively included awake Caucasians who were later classified by second independent physician into the primary snorers (SNORE, n = 34) or obstructive sleep apnea syndrome patient (OSA, n = 33) group according to the clinical examination, laboratory testing and a full-night video polysomnography (PSG) in the sleep laboratory. Imaging and clinical data were statistically compared between groups. The odd's ratio calculation showed a 2.95 (P = 0.0354) higher risk for OSA development in snoring person with a PNR greater than 8.6. The loose-contact subgroup among OSA patients showed significantly (P = 0.002) higher values of AHI in contrast to the in-contact subgroup.

IMG-01 The spectrum of involuntary movements in patients with motor neuron disease: a cross-sectional study.

Background: We have commonly observed involuntary jerks and tremor in patients with motor neuron disease (MND), even though these features are not considered typical for the disease.Objectives: We conducted prospective clinical and electrophysiological study to explore the prevalence, phenomenology and pathophysiology of involuntary movements in MND.Methods: Seventy-four consecutive patients were clinically examined and video-recorded. Based on regularity and distribution, movements observed at rest position were classified as minipolymyoclonus (MPMC) or rest thumb tremor (RTT) and movements present during action as action MPMC or action tremor. In 11 patients with tremor, accelerometry was recorded at (a) rest position, (b) with arms outstretched (postural condition) and (c) at postural condition with 500 g mass attached to the hand.Results: Involuntary movements were present in 54 patients (73%). Rest MPMC was present in 26 patients (35%), RTT in 22 patients (31%), action MPMC in 22 patients (30%) and action tremor in 20 patients (27%), with some overlap. Sixteen patients (22%) reported negative impact of involuntary movements on their ability to use hands. Regression model showed that lower distal muscle power and less prominent upper motor neuron involvement significantly increased the odds of MND patient having involuntary movements. Sex, age and disease duration did not significantly predict the occurrence of involuntary movements. At rest, tremor frequency ranged from 5.2 to 8.2 Hz, at postural position from 4.9 Hz to 7.6 Hz and during postural position with mass attached from 3.6 Hz to 7.6 Hz. On the group level, tremor peak frequency statistically significantly decreased from 6.1 Hz to 5 Hz without versus with loading.Discussion and conclusions: Involuntary movements are very common yet largely overlooked feature of MND that may also have negative impact on patient's functional abilities. Lower distal muscle power increases and the presence of upper motor neuron signs decreases the probability of involuntary movements. Together with finding of decrease in tremor frequency with mass loading, these results suggest that generation of involuntary movements is of peripheral origin.

Insulinoma presenting itself as a night paroxysmal disorder with spontaneous recovery.

A 64-year-old woman with night paroxysmal episodes is described. Her symptoms began 9 months ago with attacks of bizarre movement, which were always present in the second part of the night. She had no attacks during the daytime. Her husband reported confusion and disorientation followed by long periods of unresponsiveness. The patient underwent a night polysomnography recording. Around 4 o'clock in the morning bizarre movements with stereotypic behaviour appeared. She was rolling her head from side to side, moaning, and stretching her limbs. These periods first lasted for minutes, and were constantly repeated during the night. EEG findings suggested metabolic encephalopathy. At that time finger prick test revealed a profound hypoglycaemia (1.2 mmol/l), high insulin (200 pmol/l), and C-peptide (6.63 nmol/l). Ultrasonography and MRI confirmed the insulinoma in the head of the pancreas. To our knowledge our case is the first patient with insulinoma attacks only during sleep time.

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.