Incomplete hippocampal inversion and epilepsy: A systematic review and meta-analysis.

OBJECTIVE: Incomplete hippocampal inversion (IHI) is a relatively frequent radiological finding at visual inspection in both epilepsy and healthy controls, but its clinical significance is unclear. Here, we systematically retrieve and assess the association between epilepsy and IHI using a meta-analytic approach. Additionally, we estimate the prevalence of IHI in patients with malformation of cortical development (MCD). METHODS: We systematically searched two databases (Embase and PubMed) to identify potentially eligible studies from their inception to December 2019. For inclusion, studies were population-based, case-control, observational studies reporting on epilepsy and IHI. The risk of developing epilepsy in IHI (estimated with odds ratio [ORs]) and the frequency of IHI among patients with MCD are provided. RESULTS: We screened 3601 records and assessed eligibility of 2812 full-text articles. The final material included 13 studies involving 1630 subjects. Seven studies (1329 subjects: 952 epileptic and 377 nonepileptic) were included for the estimation of the risk of developing epilepsy in the presence of IHI. The estimated OR of active epilepsy in IHI was 1.699 (95% confidence interval = 0.880-3.281), with moderate heterogeneity across studies (I2  = 71%). Seven studies (591 patients) provided information about the frequency of IHI in MCD. Up to one third of patients with MCD (27.9%) presented coexistent IHI. SIGNIFICANCE: The present findings confirm that IHI is commonly observed in patients with MCD especially in periventricular nodular heterotopia or polymicrogyria. However, the estimated OR indicates overall weak increased odds of epilepsy in people with IHI, suggesting that the presence of isolated IHI cannot be considered a strong independent predictor for epilepsy development. Clear-cut neuroradiological criteria for IHI and advanced postprocessing analyses on structural magnetic resonance imaging scans are recommended to highlight differences between epileptogenic and nonepileptogenic IHI.

Isolated rapid eye movement sleep behavior disorder and cyclic alternating pattern: is sleep microstructure a predictive parameter of neurodegeneration?

OBJECTIVE: To evaluate the role of sleep cyclic alternating pattern (CAP) in patients with isolated REM sleep behavior disorder (IRBD) and ascertain whether CAP metrics might represent a marker of phenoconversion to a defined neurodegenerative condition. METHODS: Sixty-seven IRBD patients were included and classified into patients who phenoconverted to a neurodegenerative disease (RBD converters: converter REM sleep behavior disorder [cRBD]; n = 34) and remained disease-free (RBD non-converters: non-converter REM sleep behavior disorder [ncRBD]; n = 33) having a similar follow-up duration. Fourteen age- and gender-balanced healthy controls were included for comparisons. RESULTS: Compared to controls, CAP rate and CAP index were significantly decreased in IRBD mainly due to a decrease of A1 phase subtypes (A1 index) despite an increase in duration of both CAP A and B phases. The cRBD group had significantly lower values of CAP rate and CAP index when compared with the ncRBD group and controls. A1 index was significantly reduced in both ncRBD and cRBD groups compared to controls. When compared to the ncRBD group, A3 index was significantly decreased in the cRBD group. The Kaplan-Meier curve applied to cRBD estimated that a value of CAP rate below 32.9% was related to an average risk of conversion of 9.2 years after baseline polysomnography. CONCLUSION: IRBD is not exclusively a rapid eye movement (REM) sleep parasomnia, as non-rapid eye movement (non-REM) sleep microstructure can also be affected by CAP changes. Further studies are necessary to confirm that a reduction of specific CAP metrics is a marker of neurodegeneration in IRBD.

Herpes Simplex Virus 1 encephalitis with normal cerebrospinal fluid after brain radiotherapy in a patient with glioblastoma. A case report and review of literature.

Herpes simplex virus encephalitis (HSE) is the most common cause of letal encephalitis and its prevalence appears higher among oncologic patients who undergo brain radiotherapy (RT). We describe a case of 76-year-old woman with glioblastoma multiforme (GBM) who developed HSE shortly after brain RT. Cerebrospinal fluid analysis (CSF) was normal and the diagnosis was driven by brain MRI and EEG. Prompt introduction of antiviral therapy improved the clinical picture. We highlight the importance of EEG and brain MRI for the diagnosis and suggest the possibility of antiviral profilaxys in oncologic patients who undergo brain RT.

Quality of life in idiopathic pulmonary fibrosis: The impact of sleep disordered breathing.

PURPOSE: the study aims at describing the role of sleep disordered breathing (SDB) on daytime symptoms, quality of sleep and quality of life (QoL) in patients with moderate-severe IPF. METHODS: we enrolled 34 consecutive room air breathing IPF outpatients who received a full-night polysomnography. The following questionnaires were administered: Epworth Sleepiness Score (ESS), Pittsburg Sleep Quality Index (PSQI), StGeorge's Questionnaire (StGQ). RESULTS: patients were classified in 3 groups:Group A (NO-SDB, 9 patients), Group B(OSAS without sleep-related hypoxemia, 17 patients), Group C(OSAS with sleep-related hypoxemia, 8 patients). Although sleep parameters showed no significant differences among the 3 groups, worse measures were found in group C. 50% of patients (17/34) reported a StGQ score indicating a reduced QoL and the StGQ score was significantly higher in group C patients compared to group A (p < 0.05). In the stepwise multiple regression analysis, 75% of StGQ score variability was significantly predicted by FVC(Forced Vital Capacity) %, DLco (diffusion lung capacity for carbon monoxide)%, PSQI and ESS. CONCLUSIONS: in patients with IPF both subjective and polysomnographic poor sleep quality are extremely common features, they are predicted by variables associated with SBD severity and are linked to low QoL. IPF with more severe SDB present poor sleep quality and a worse QoL compared to SDB-free or OSAS-only.

Arousal responses to respiratory events during sleep: the role of pulse wave amplitude.

The study aims at assessing the changes in electroencephalography (as measured by the A-phases of cyclic alternating pattern) and autonomic activity (based on pulse wave amplitude) at the recovery of airway patency in patients with obstructive sleep apnea syndrome. Analysis of polysomnographic recordings from 20 male individuals with obstructive sleep apnea syndrome was carried out in total sleep time, non-rapid eye movement and rapid eye movement sleep. Scoring quantified the combined occurrence (time range of 4 s before and 4 s after respiratory recovery) or separate occurrence of A-phases (cortical activation), and pulse wave amplitude drops (below 30%) to apneas, hypopneas or flow limitation events. A dual response (A-phase associated with a pulse wave amplitude drop) was the most frequent response (71.8% in total sleep time) for all types of respiratory events, with a progressive reduction from apneas to hypopneas and flow limitation events. The highly significant correlation in total sleep time (r = 0.9351; P < 0.0001) between respiratory events combined with A-phases and respiratory events combined with pulse wave amplitude drops was confirmed both in non-rapid eye movement (r = 0.9622; P < 0.0001) and rapid eye movement sleep (r = 0.7162; P < 0.0006). In conclusion, a dual cortical and autonomic activation is the most common manifestation at the recovery of airway patency. The significant correlation between A-phases and relevant pulse wave amplitude drops suggests a possible role of pulse wave amplitude as a marker of cerebral response to respiratory events.

OSA and Prolonged Oxygen Desaturation During Sleep are Strong Predictors of Poor Outcome in IPF.

PURPOSE: Sleep Breathing Disorders (SBD) are frequently found in idiopathic pulmonary fibrosis (IPF) and they are associated with worse quality of sleep and life and with higher mortality. The study aimed at evaluating the impact of SBD on prognosis (mortality or disease progression) in 35 patients with mild to moderate IPF. METHODS AND RESULTS: Obstructive sleep apnea (OSA) was diagnosed in 25/35 patients with IPF: 14/35 mild, 7/35 moderate, and 4/35 severe. According to the American Academy of Sleep Medicine (AASM) definition, sleep-related hypoxemia was found in 9/35 patients with IPF. According to the presence/absence of SBD, IPF patients were divided into 4 groups: NO-SBD group (Group A, 25.7%), OSA without sleep-related hypoxemia (Group B, 48.5%), OSA with sleep-related hypoxemia group (Group C, 22.8%), and only 1/35 had sleep-related hypoxemia without OSA(Group D, 2.8%). Statistical analysis was focused only on group A, B, and C. Patients with OSAS and sleep-related hypoxemia (Group C) had the worse prognosis, both in terms of mortality or clinical deterioration. SBD were the only independent risk factor (Cox Proportional Hazards Multiple Regression Analysis) for mortality (HR 7.6% IC 1.2-36.3; p = 0.029) and disease progression (HR 9.95% IC 1.8-644.9; p = 0.007). CONCLUSIONS: SBD are associated with a worse prognosis, both in terms of mortality or clinical progression. The presence of SBD should be explored in all IPF patients.

Dermatologic manifestations and neuropathic symptoms in women with Fabry disease.

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain (1). We herein describe the case of a 30-year-old female presenting two classic signs of Fabry disease, angiokeratomas and episodic acroparesthesias, in the absence of other clinical manifestations. An haplotype corresponding to the combination of three different nucleotide polymorphic variants (g. 7192-7198del5+ g. 10115A>G + g. 10956 C>T) at the heterozygous state, was identified (2).